Incidental Mutation 'R4577:Map4'
| ID |
499988 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map4
|
| Ensembl Gene |
ENSMUSG00000032479 |
| Gene Name |
microtubule-associated protein 4 |
| Synonyms |
MAP 4, Mtap4 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4577 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
109760528-109913023 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 109910489 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1061
(T1061A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132662
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035055]
[ENSMUST00000062368]
[ENSMUST00000111991]
[ENSMUST00000163979]
[ENSMUST00000164930]
[ENSMUST00000165596]
[ENSMUST00000165876]
[ENSMUST00000198511]
[ENSMUST00000199161]
[ENSMUST00000199461]
[ENSMUST00000199498]
[ENSMUST00000196171]
[ENSMUST00000199529]
[ENSMUST00000197928]
[ENSMUST00000199548]
[ENSMUST00000199693]
[ENSMUST00000198425]
[ENSMUST00000200066]
|
| AlphaFold |
P27546 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035055
AA Change: T1061A
PolyPhen 2
Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000035055
Gene: ENSMUSG00000032479
AA Change: T1061A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
254 |
265 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
266 |
379 |
4.96e-7 |
PROSPERO |
|
low complexity region
|
401 |
420 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
439 |
550 |
4.96e-7 |
PROSPERO |
|
low complexity region
|
659 |
674 |
N/A |
INTRINSIC |
|
low complexity region
|
720 |
742 |
N/A |
INTRINSIC |
|
low complexity region
|
760 |
775 |
N/A |
INTRINSIC |
|
low complexity region
|
879 |
889 |
N/A |
INTRINSIC |
|
Pfam:Tubulin-binding
|
903 |
926 |
2e-12 |
PFAM |
|
Pfam:Tubulin-binding
|
965 |
995 |
4.9e-18 |
PFAM |
|
Pfam:Tubulin-binding
|
996 |
1026 |
7.4e-18 |
PFAM |
|
Pfam:Tubulin-binding
|
1027 |
1058 |
4.4e-15 |
PFAM |
|
low complexity region
|
1093 |
1108 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062368
|
| SMART Domains |
Protein: ENSMUSP00000062622
Gene: ENSMUSG00000032480
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
12 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
64 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
76 |
123 |
2.53e-5 |
PROSPERO |
|
low complexity region
|
217 |
228 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
268 |
314 |
2.53e-5 |
PROSPERO |
|
low complexity region
|
321 |
342 |
N/A |
INTRINSIC |
|
DEXDc
|
461 |
650 |
9.66e-29 |
SMART |
|
low complexity region
|
679 |
689 |
N/A |
INTRINSIC |
|
HELICc
|
711 |
816 |
1.63e-17 |
SMART |
|
HA2
|
879 |
969 |
5.16e-22 |
SMART |
|
Pfam:OB_NTP_bind
|
984 |
1134 |
5.7e-9 |
PFAM |
|
low complexity region
|
1200 |
1208 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111991
|
| SMART Domains |
Protein: ENSMUSP00000107622
Gene: ENSMUSG00000032480
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
47 |
94 |
6.21e-5 |
PROSPERO |
|
low complexity region
|
188 |
199 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
239 |
285 |
6.21e-5 |
PROSPERO |
|
low complexity region
|
292 |
313 |
N/A |
INTRINSIC |
|
DEXDc
|
432 |
621 |
9.66e-29 |
SMART |
|
low complexity region
|
650 |
660 |
N/A |
INTRINSIC |
|
HELICc
|
682 |
787 |
1.63e-17 |
SMART |
|
HA2
|
850 |
940 |
5.16e-22 |
SMART |
|
Pfam:OB_NTP_bind
|
952 |
1106 |
2.1e-7 |
PFAM |
|
low complexity region
|
1171 |
1179 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163979
AA Change: T350A
PolyPhen 2
Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000129362
Gene: ENSMUSG00000032479
AA Change: T350A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
341 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
376 |
N/A |
INTRINSIC |
|
low complexity region
|
506 |
521 |
N/A |
INTRINSIC |
|
low complexity region
|
567 |
589 |
N/A |
INTRINSIC |
|
low complexity region
|
607 |
622 |
N/A |
INTRINSIC |
|
low complexity region
|
726 |
736 |
N/A |
INTRINSIC |
|
Pfam:Tubulin-binding
|
743 |
773 |
5.8e-16 |
PFAM |
|
Pfam:Tubulin-binding
|
774 |
804 |
2.2e-18 |
PFAM |
|
Pfam:Tubulin-binding
|
805 |
836 |
1.6e-11 |
PFAM |
|
low complexity region
|
871 |
886 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164930
AA Change: T870A
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000131285
Gene: ENSMUSG00000032479
AA Change: T870A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
341 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
376 |
N/A |
INTRINSIC |
|
low complexity region
|
506 |
521 |
N/A |
INTRINSIC |
|
low complexity region
|
567 |
589 |
N/A |
INTRINSIC |
|
low complexity region
|
607 |
622 |
N/A |
INTRINSIC |
|
low complexity region
|
726 |
736 |
N/A |
INTRINSIC |
|
Pfam:Tubulin-binding
|
743 |
773 |
6e-16 |
PFAM |
|
Pfam:Tubulin-binding
|
774 |
804 |
4.5e-19 |
PFAM |
|
Pfam:Tubulin-binding
|
805 |
835 |
2.3e-18 |
PFAM |
|
Pfam:Tubulin-binding
|
836 |
867 |
1.6e-11 |
PFAM |
|
low complexity region
|
902 |
917 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165596
|
| SMART Domains |
Protein: ENSMUSP00000129174
Gene: ENSMUSG00000032480
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
70 |
117 |
6.77e-5 |
PROSPERO |
|
low complexity region
|
211 |
222 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
262 |
308 |
6.77e-5 |
PROSPERO |
|
low complexity region
|
315 |
336 |
N/A |
INTRINSIC |
|
DEXDc
|
455 |
644 |
9.66e-29 |
SMART |
|
low complexity region
|
673 |
683 |
N/A |
INTRINSIC |
|
HELICc
|
705 |
810 |
1.63e-17 |
SMART |
|
HA2
|
873 |
963 |
5.16e-22 |
SMART |
|
Pfam:OB_NTP_bind
|
975 |
1129 |
1.8e-7 |
PFAM |
|
low complexity region
|
1194 |
1202 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165876
AA Change: T1061A
PolyPhen 2
Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000132662
Gene: ENSMUSG00000032479
AA Change: T1061A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
254 |
265 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
266 |
379 |
4.95e-7 |
PROSPERO |
|
low complexity region
|
401 |
420 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
439 |
550 |
4.95e-7 |
PROSPERO |
|
low complexity region
|
659 |
674 |
N/A |
INTRINSIC |
|
low complexity region
|
720 |
742 |
N/A |
INTRINSIC |
|
low complexity region
|
760 |
775 |
N/A |
INTRINSIC |
|
low complexity region
|
879 |
889 |
N/A |
INTRINSIC |
|
Pfam:Tubulin-binding
|
896 |
926 |
8.5e-16 |
PFAM |
|
Pfam:Tubulin-binding
|
965 |
995 |
6.4e-19 |
PFAM |
|
Pfam:Tubulin-binding
|
996 |
1026 |
3.3e-18 |
PFAM |
|
Pfam:Tubulin-binding
|
1027 |
1058 |
2.3e-11 |
PFAM |
|
low complexity region
|
1093 |
1108 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198511
AA Change: T151A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000142558
Gene: ENSMUSG00000032479
AA Change: T151A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
17 |
N/A |
INTRINSIC |
|
Pfam:Tubulin-binding
|
24 |
54 |
7.3e-14 |
PFAM |
|
Pfam:Tubulin-binding
|
55 |
85 |
5.3e-17 |
PFAM |
|
Pfam:Tubulin-binding
|
86 |
116 |
2.8e-16 |
PFAM |
|
Pfam:Tubulin-binding
|
117 |
148 |
1.9e-9 |
PFAM |
|
low complexity region
|
183 |
198 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199161
AA Change: T144A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000143205
Gene: ENSMUSG00000032479
AA Change: T144A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tubulin-binding
|
16 |
46 |
6.7e-14 |
PFAM |
|
Pfam:Tubulin-binding
|
47 |
77 |
4.9e-17 |
PFAM |
|
Pfam:Tubulin-binding
|
78 |
108 |
2.5e-16 |
PFAM |
|
Pfam:Tubulin-binding
|
109 |
140 |
1.7e-9 |
PFAM |
|
low complexity region
|
176 |
191 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199461
AA Change: T212A
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000143296
Gene: ENSMUSG00000032479
AA Change: T212A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
99 |
109 |
N/A |
INTRINSIC |
|
Pfam:Tubulin-binding
|
116 |
146 |
1e-13 |
PFAM |
|
Pfam:Tubulin-binding
|
147 |
177 |
3.8e-16 |
PFAM |
|
Pfam:Tubulin-binding
|
178 |
209 |
2.6e-9 |
PFAM |
|
low complexity region
|
244 |
259 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199498
AA Change: T839A
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000142439
Gene: ENSMUSG00000032479
AA Change: T839A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
341 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
376 |
N/A |
INTRINSIC |
|
low complexity region
|
506 |
521 |
N/A |
INTRINSIC |
|
low complexity region
|
567 |
589 |
N/A |
INTRINSIC |
|
low complexity region
|
607 |
622 |
N/A |
INTRINSIC |
|
low complexity region
|
726 |
736 |
N/A |
INTRINSIC |
|
Pfam:Tubulin-binding
|
743 |
773 |
5.8e-16 |
PFAM |
|
Pfam:Tubulin-binding
|
774 |
804 |
2.2e-18 |
PFAM |
|
Pfam:Tubulin-binding
|
805 |
836 |
1.6e-11 |
PFAM |
|
low complexity region
|
871 |
886 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196171
|
| SMART Domains |
Protein: ENSMUSP00000143616
Gene: ENSMUSG00000032480
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
39 |
86 |
5.84e-5 |
PROSPERO |
|
low complexity region
|
180 |
191 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
231 |
277 |
5.84e-5 |
PROSPERO |
|
low complexity region
|
284 |
305 |
N/A |
INTRINSIC |
|
DEXDc
|
424 |
613 |
9.66e-29 |
SMART |
|
low complexity region
|
642 |
652 |
N/A |
INTRINSIC |
|
HELICc
|
674 |
779 |
1.63e-17 |
SMART |
|
HA2
|
842 |
932 |
5.16e-22 |
SMART |
|
Pfam:OB_NTP_bind
|
947 |
1097 |
2.8e-9 |
PFAM |
|
low complexity region
|
1163 |
1171 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199529
|
| SMART Domains |
Protein: ENSMUSP00000142489
Gene: ENSMUSG00000032480
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
47 |
94 |
6.21e-5 |
PROSPERO |
|
low complexity region
|
188 |
199 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
239 |
285 |
6.21e-5 |
PROSPERO |
|
low complexity region
|
292 |
313 |
N/A |
INTRINSIC |
|
DEXDc
|
432 |
621 |
9.66e-29 |
SMART |
|
low complexity region
|
650 |
660 |
N/A |
INTRINSIC |
|
HELICc
|
682 |
787 |
1.63e-17 |
SMART |
|
HA2
|
850 |
940 |
5.16e-22 |
SMART |
|
Pfam:OB_NTP_bind
|
952 |
1106 |
2.1e-7 |
PFAM |
|
low complexity region
|
1171 |
1179 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197928
|
| SMART Domains |
Protein: ENSMUSP00000142549
Gene: ENSMUSG00000032480
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
47 |
94 |
6.21e-5 |
PROSPERO |
|
low complexity region
|
188 |
199 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
239 |
285 |
6.21e-5 |
PROSPERO |
|
low complexity region
|
292 |
313 |
N/A |
INTRINSIC |
|
DEXDc
|
432 |
621 |
9.66e-29 |
SMART |
|
low complexity region
|
650 |
660 |
N/A |
INTRINSIC |
|
HELICc
|
682 |
787 |
1.63e-17 |
SMART |
|
HA2
|
850 |
940 |
5.16e-22 |
SMART |
|
Pfam:OB_NTP_bind
|
952 |
1106 |
2.1e-7 |
PFAM |
|
low complexity region
|
1171 |
1179 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199548
|
| SMART Domains |
Protein: ENSMUSP00000143408
Gene: ENSMUSG00000032479
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
99 |
109 |
N/A |
INTRINSIC |
|
Pfam:Tubulin-binding
|
116 |
146 |
1.1e-13 |
PFAM |
|
Pfam:Tubulin-binding
|
147 |
177 |
7.9e-17 |
PFAM |
|
Pfam:Tubulin-binding
|
178 |
208 |
4.1e-16 |
PFAM |
|
Pfam:Tubulin-binding
|
209 |
240 |
2.8e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196914
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196763
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199332
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199693
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198026
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198425
|
| SMART Domains |
Protein: ENSMUSP00000142659
Gene: ENSMUSG00000032480
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
70 |
117 |
6.77e-5 |
PROSPERO |
|
low complexity region
|
211 |
222 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
262 |
308 |
6.77e-5 |
PROSPERO |
|
low complexity region
|
315 |
336 |
N/A |
INTRINSIC |
|
DEXDc
|
455 |
644 |
9.66e-29 |
SMART |
|
low complexity region
|
673 |
683 |
N/A |
INTRINSIC |
|
HELICc
|
705 |
810 |
1.63e-17 |
SMART |
|
HA2
|
873 |
963 |
5.16e-22 |
SMART |
|
Pfam:OB_NTP_bind
|
975 |
1129 |
1.8e-7 |
PFAM |
|
low complexity region
|
1194 |
1202 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000200480
AA Change: T51A
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200066
|
| SMART Domains |
Protein: ENSMUSP00000143371
Gene: ENSMUSG00000032480
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
47 |
94 |
6.21e-5 |
PROSPERO |
|
low complexity region
|
188 |
199 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
239 |
285 |
6.21e-5 |
PROSPERO |
|
low complexity region
|
292 |
313 |
N/A |
INTRINSIC |
|
DEXDc
|
432 |
621 |
9.66e-29 |
SMART |
|
low complexity region
|
650 |
660 |
N/A |
INTRINSIC |
|
HELICc
|
682 |
787 |
1.63e-17 |
SMART |
|
HA2
|
850 |
940 |
5.16e-22 |
SMART |
|
Pfam:OB_NTP_bind
|
952 |
1106 |
2.1e-7 |
PFAM |
|
low complexity region
|
1171 |
1179 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200593
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199985
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a major non-neuronal microtubule-associated protein. This protein contains a domain similar to the microtubule-binding domains of neuronal microtubule-associated protein (MAP2) and microtubule-associated protein tau (MAPT/TAU). This protein promotes microtubule assembly, and has been shown to counteract destabilization of interphase microtubule catastrophe promotion. Cyclin B was found to interact with this protein, which targets cell division cycle 2 (CDC2) kinase to microtubules. The phosphorylation of this protein affects microtubule properties and cell cycle progression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele are viable and do not display any overt phenotypic abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AAdacl4fm3 |
A |
C |
4: 144,430,323 (GRCm39) |
I222S |
probably damaging |
Het |
| Abca1 |
C |
A |
4: 53,062,568 (GRCm39) |
C1429F |
possibly damaging |
Het |
| Acacb |
A |
G |
5: 114,364,892 (GRCm39) |
E1524G |
probably damaging |
Het |
| Ankrd50 |
A |
G |
3: 38,510,090 (GRCm39) |
V759A |
probably damaging |
Het |
| Ano9 |
T |
C |
7: 140,684,051 (GRCm39) |
Q538R |
probably damaging |
Het |
| Bnip2 |
A |
G |
9: 69,904,444 (GRCm39) |
D67G |
probably benign |
Het |
| Cacna1e |
A |
T |
1: 154,277,773 (GRCm39) |
S2060T |
possibly damaging |
Het |
| Cand2 |
G |
A |
6: 115,768,220 (GRCm39) |
C455Y |
probably damaging |
Het |
| Cdh16 |
T |
C |
8: 105,345,191 (GRCm39) |
D366G |
probably damaging |
Het |
| Cep170b |
A |
G |
12: 112,711,152 (GRCm39) |
R595G |
probably damaging |
Het |
| Chaf1a |
G |
A |
17: 56,372,184 (GRCm39) |
R784Q |
probably damaging |
Het |
| Cimip2a |
T |
C |
2: 25,110,300 (GRCm39) |
S71P |
probably benign |
Het |
| Clca4a |
C |
A |
3: 144,660,730 (GRCm39) |
S698I |
probably damaging |
Het |
| Dnah5 |
A |
C |
15: 28,289,396 (GRCm39) |
Y1195S |
probably benign |
Het |
| Dynlt4 |
A |
G |
4: 116,985,812 (GRCm39) |
T212A |
possibly damaging |
Het |
| Dysf |
T |
C |
6: 84,114,308 (GRCm39) |
I1229T |
probably damaging |
Het |
| Eef2 |
GCCC |
GCCCC |
10: 81,014,601 (GRCm39) |
|
probably null |
Het |
| Ep300 |
T |
C |
15: 81,533,210 (GRCm39) |
S1756P |
unknown |
Het |
| Ep300 |
T |
A |
15: 81,495,611 (GRCm39) |
|
probably benign |
Het |
| F3 |
A |
G |
3: 121,527,763 (GRCm39) |
I254V |
probably benign |
Het |
| Frmd4a |
C |
A |
2: 4,608,490 (GRCm39) |
A786E |
possibly damaging |
Het |
| Fsd1l |
T |
C |
4: 53,686,397 (GRCm39) |
F270S |
probably damaging |
Het |
| Galnt3 |
T |
C |
2: 65,928,203 (GRCm39) |
Y231C |
probably benign |
Het |
| Gm10220 |
A |
C |
5: 26,322,869 (GRCm39) |
I181S |
probably benign |
Het |
| Gnb5 |
G |
A |
9: 75,250,823 (GRCm39) |
V316I |
possibly damaging |
Het |
| Gys2 |
A |
G |
6: 142,400,236 (GRCm39) |
F325S |
possibly damaging |
Het |
| Hmgn2 |
G |
A |
4: 133,694,668 (GRCm39) |
|
probably benign |
Het |
| Hsph1 |
A |
G |
5: 149,542,308 (GRCm39) |
V705A |
probably benign |
Het |
| Ighg2b |
T |
C |
12: 113,270,512 (GRCm39) |
E206G |
unknown |
Het |
| Iqub |
A |
T |
6: 24,501,290 (GRCm39) |
I220N |
probably damaging |
Het |
| Jmjd1c |
A |
G |
10: 67,085,529 (GRCm39) |
T2259A |
probably damaging |
Het |
| Kcnq3 |
T |
C |
15: 66,158,063 (GRCm39) |
K4R |
unknown |
Het |
| Klk12 |
A |
G |
7: 43,422,667 (GRCm39) |
D198G |
probably damaging |
Het |
| L3mbtl2 |
G |
A |
15: 81,570,486 (GRCm39) |
E655K |
probably benign |
Het |
| Lrp1b |
C |
T |
2: 40,711,731 (GRCm39) |
C3163Y |
probably damaging |
Het |
| Map3k19 |
T |
A |
1: 127,750,550 (GRCm39) |
R934* |
probably null |
Het |
| Mbnl1 |
G |
A |
3: 60,437,199 (GRCm39) |
V50I |
probably damaging |
Het |
| Med15 |
G |
A |
16: 17,492,379 (GRCm39) |
Q132* |
probably null |
Het |
| Mef2a |
T |
C |
7: 66,890,187 (GRCm39) |
N131S |
probably benign |
Het |
| Mtmr3 |
G |
C |
11: 4,447,375 (GRCm39) |
L361V |
probably damaging |
Het |
| Myo5a |
A |
G |
9: 75,124,827 (GRCm39) |
E1792G |
probably damaging |
Het |
| Nup88 |
C |
A |
11: 70,860,543 (GRCm39) |
A55S |
probably damaging |
Het |
| Or1ab2 |
T |
A |
8: 72,864,167 (GRCm39) |
Y252* |
probably null |
Het |
| Or4a79 |
T |
C |
2: 89,552,387 (GRCm39) |
K23E |
possibly damaging |
Het |
| Pacs1 |
G |
T |
19: 5,193,861 (GRCm39) |
S556* |
probably null |
Het |
| Parp4 |
A |
G |
14: 56,827,867 (GRCm39) |
E206G |
probably benign |
Het |
| Paxbp1 |
T |
G |
16: 90,812,042 (GRCm39) |
K889N |
probably damaging |
Het |
| Pcdhga2 |
G |
A |
18: 37,802,302 (GRCm39) |
A49T |
possibly damaging |
Het |
| Pcsk6 |
T |
A |
7: 65,609,014 (GRCm39) |
L292* |
probably null |
Het |
| Plb1 |
C |
T |
5: 32,404,901 (GRCm39) |
Q20* |
probably null |
Het |
| Plec |
C |
A |
15: 76,068,269 (GRCm39) |
Q1142H |
possibly damaging |
Het |
| Pnpla2 |
T |
C |
7: 141,037,257 (GRCm39) |
S87P |
probably damaging |
Het |
| Prss28 |
T |
C |
17: 25,529,079 (GRCm39) |
V140A |
probably damaging |
Het |
| Rad17 |
A |
T |
13: 100,769,786 (GRCm39) |
S258T |
probably damaging |
Het |
| Rnf111 |
A |
T |
9: 70,336,866 (GRCm39) |
C932* |
probably null |
Het |
| Sdc2 |
T |
C |
15: 33,017,278 (GRCm39) |
Y31H |
probably damaging |
Het |
| Selenoh |
T |
C |
2: 84,500,675 (GRCm39) |
E55G |
possibly damaging |
Het |
| Serpina3k |
T |
G |
12: 104,310,451 (GRCm39) |
V327G |
possibly damaging |
Het |
| Setd1b |
A |
G |
5: 123,286,679 (GRCm39) |
E575G |
unknown |
Het |
| Slco1a4 |
A |
T |
6: 141,765,266 (GRCm39) |
S325R |
probably damaging |
Het |
| Smtnl1 |
C |
A |
2: 84,648,787 (GRCm39) |
V156L |
possibly damaging |
Het |
| Spef1l |
A |
G |
7: 139,558,043 (GRCm39) |
I51T |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,392,039 (GRCm39) |
D1607G |
probably damaging |
Het |
| Tmem101 |
T |
A |
11: 102,046,663 (GRCm39) |
M69L |
possibly damaging |
Het |
| Treh |
G |
A |
9: 44,597,208 (GRCm39) |
M542I |
probably benign |
Het |
| Trim30b |
T |
C |
7: 104,006,538 (GRCm39) |
Y106C |
possibly damaging |
Het |
| Ttc6 |
T |
C |
12: 57,623,441 (GRCm39) |
I280T |
probably benign |
Het |
| Ubtfl1 |
A |
G |
9: 18,320,789 (GRCm39) |
T106A |
probably damaging |
Het |
| Wdr27 |
T |
C |
17: 15,123,724 (GRCm39) |
H583R |
probably benign |
Het |
| Xirp2 |
C |
T |
2: 67,344,241 (GRCm39) |
P2161S |
probably damaging |
Het |
|
| Other mutations in Map4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00565:Map4
|
APN |
9 |
109,901,672 (GRCm39) |
splice site |
probably benign |
|
|
IGL01331:Map4
|
APN |
9 |
109,863,869 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01599:Map4
|
APN |
9 |
109,863,836 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL01631:Map4
|
APN |
9 |
109,892,201 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02208:Map4
|
APN |
9 |
109,807,938 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
IGL02455:Map4
|
APN |
9 |
109,828,901 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02625:Map4
|
APN |
9 |
109,893,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4486001:Map4
|
UTSW |
9 |
109,901,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0149:Map4
|
UTSW |
9 |
109,896,692 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0384:Map4
|
UTSW |
9 |
109,863,696 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0392:Map4
|
UTSW |
9 |
109,907,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0496:Map4
|
UTSW |
9 |
109,868,918 (GRCm39) |
intron |
probably benign |
|
|
R0526:Map4
|
UTSW |
9 |
109,866,346 (GRCm39) |
splice site |
probably null |
|
|
R0555:Map4
|
UTSW |
9 |
109,808,171 (GRCm39) |
splice site |
probably benign |
|
|
R0571:Map4
|
UTSW |
9 |
109,865,834 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0698:Map4
|
UTSW |
9 |
109,897,856 (GRCm39) |
nonsense |
probably null |
|
|
R0762:Map4
|
UTSW |
9 |
109,867,546 (GRCm39) |
intron |
probably benign |
|
|
R0862:Map4
|
UTSW |
9 |
109,808,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0864:Map4
|
UTSW |
9 |
109,808,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1168:Map4
|
UTSW |
9 |
109,864,032 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1238:Map4
|
UTSW |
9 |
109,897,648 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1735:Map4
|
UTSW |
9 |
109,864,023 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1869:Map4
|
UTSW |
9 |
109,897,996 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1869:Map4
|
UTSW |
9 |
109,864,032 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2196:Map4
|
UTSW |
9 |
109,900,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2264:Map4
|
UTSW |
9 |
109,910,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2507:Map4
|
UTSW |
9 |
109,866,551 (GRCm39) |
intron |
probably benign |
|
|
R2512:Map4
|
UTSW |
9 |
109,863,770 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R3087:Map4
|
UTSW |
9 |
109,882,257 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R3154:Map4
|
UTSW |
9 |
109,828,860 (GRCm39) |
missense |
probably benign |
0.19 |
|
R3498:Map4
|
UTSW |
9 |
109,864,280 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3547:Map4
|
UTSW |
9 |
109,881,266 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3751:Map4
|
UTSW |
9 |
109,867,742 (GRCm39) |
intron |
probably benign |
|
|
R4036:Map4
|
UTSW |
9 |
109,861,283 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4423:Map4
|
UTSW |
9 |
109,896,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4505:Map4
|
UTSW |
9 |
109,861,253 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4561:Map4
|
UTSW |
9 |
109,881,439 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4601:Map4
|
UTSW |
9 |
109,881,887 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4795:Map4
|
UTSW |
9 |
109,864,331 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4801:Map4
|
UTSW |
9 |
109,864,325 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4802:Map4
|
UTSW |
9 |
109,864,325 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4999:Map4
|
UTSW |
9 |
109,867,445 (GRCm39) |
intron |
probably benign |
|
|
R5020:Map4
|
UTSW |
9 |
109,897,868 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5021:Map4
|
UTSW |
9 |
109,867,157 (GRCm39) |
nonsense |
probably null |
|
|
R5049:Map4
|
UTSW |
9 |
109,908,882 (GRCm39) |
nonsense |
probably null |
|
|
R5451:Map4
|
UTSW |
9 |
109,866,851 (GRCm39) |
intron |
probably benign |
|
|
R5452:Map4
|
UTSW |
9 |
109,866,851 (GRCm39) |
intron |
probably benign |
|
|
R5453:Map4
|
UTSW |
9 |
109,866,851 (GRCm39) |
intron |
probably benign |
|
|
R5492:Map4
|
UTSW |
9 |
109,881,450 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5532:Map4
|
UTSW |
9 |
109,863,746 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5602:Map4
|
UTSW |
9 |
109,881,768 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5628:Map4
|
UTSW |
9 |
109,910,915 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5896:Map4
|
UTSW |
9 |
109,901,702 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6017:Map4
|
UTSW |
9 |
109,863,687 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6084:Map4
|
UTSW |
9 |
109,893,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6294:Map4
|
UTSW |
9 |
109,831,814 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6397:Map4
|
UTSW |
9 |
109,856,784 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6773:Map4
|
UTSW |
9 |
109,863,993 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6997:Map4
|
UTSW |
9 |
109,881,982 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7141:Map4
|
UTSW |
9 |
109,807,938 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R7187:Map4
|
UTSW |
9 |
109,882,201 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7320:Map4
|
UTSW |
9 |
109,910,585 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7469:Map4
|
UTSW |
9 |
109,856,865 (GRCm39) |
splice site |
probably null |
|
|
R7479:Map4
|
UTSW |
9 |
109,897,892 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7487:Map4
|
UTSW |
9 |
109,856,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7690:Map4
|
UTSW |
9 |
109,828,861 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7780:Map4
|
UTSW |
9 |
109,863,720 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7998:Map4
|
UTSW |
9 |
109,908,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8028:Map4
|
UTSW |
9 |
109,897,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8557:Map4
|
UTSW |
9 |
109,893,370 (GRCm39) |
splice site |
probably null |
|
|
R8950:Map4
|
UTSW |
9 |
109,901,702 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8972:Map4
|
UTSW |
9 |
109,864,185 (GRCm39) |
missense |
probably benign |
|
|
R9145:Map4
|
UTSW |
9 |
109,855,268 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9297:Map4
|
UTSW |
9 |
109,882,480 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9332:Map4
|
UTSW |
9 |
109,864,223 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9354:Map4
|
UTSW |
9 |
109,897,847 (GRCm39) |
missense |
probably benign |
|
|
R9419:Map4
|
UTSW |
9 |
109,882,029 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9430:Map4
|
UTSW |
9 |
109,863,760 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9437:Map4
|
UTSW |
9 |
109,864,155 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9718:Map4
|
UTSW |
9 |
109,901,774 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Map4
|
UTSW |
9 |
109,897,591 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CACAGAGTTCCATAATGAGATTCCC -3'
(R):5'- ATCTGGCTGTCCAAGGTCTG -3'
Sequencing Primer
(F):5'- TTCCCAAGAGTGGCATTAGC -3'
(R):5'- CAAGGTCTGGGGCTCCCTTTG -3'
|
| Posted On |
2017-11-30 |
Incidental Mutation