Incidental Mutation 'R4868:Itsn1'
| ID |
376365 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itsn1
|
| Ensembl Gene |
ENSMUSG00000022957 |
| Gene Name |
intersectin 1 (SH3 domain protein 1A) |
| Synonyms |
Eh domain, SH3 domain regulator of endocytosis 1, Sh3p17, Ese1, Intersectin-L, EHSH1 |
| MMRRC Submission |
042478-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4868 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
91526198-91717479 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 91582205 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 51
(S51T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093598
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056482]
[ENSMUST00000064797]
[ENSMUST00000095909]
[ENSMUST00000113993]
[ENSMUST00000113996]
[ENSMUST00000113999]
[ENSMUST00000114001]
[ENSMUST00000114002]
[ENSMUST00000135057]
[ENSMUST00000231974]
[ENSMUST00000231535]
[ENSMUST00000159295]
|
| AlphaFold |
Q9Z0R4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056482
AA Change: S51T
PolyPhen 2
Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000056011
Gene: ENSMUSG00000022957
AA Change: S51T
| Domain | Start | End | E-Value | Type |
|---|
|
EH
|
14 |
108 |
1.34e-43 |
SMART |
|
EFh
|
57 |
85 |
2.14e-1 |
SMART |
|
low complexity region
|
138 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
182 |
192 |
N/A |
INTRINSIC |
|
EH
|
214 |
309 |
2.55e-49 |
SMART |
|
EFh
|
258 |
286 |
1.77e-2 |
SMART |
|
low complexity region
|
330 |
342 |
N/A |
INTRINSIC |
|
coiled coil region
|
352 |
447 |
N/A |
INTRINSIC |
|
coiled coil region
|
468 |
515 |
N/A |
INTRINSIC |
|
low complexity region
|
526 |
537 |
N/A |
INTRINSIC |
|
coiled coil region
|
561 |
661 |
N/A |
INTRINSIC |
|
low complexity region
|
687 |
696 |
N/A |
INTRINSIC |
|
SH3
|
741 |
798 |
1.05e-19 |
SMART |
|
SH3
|
909 |
963 |
2.64e-16 |
SMART |
|
SH3
|
998 |
1052 |
1.82e-19 |
SMART |
|
SH3
|
1070 |
1130 |
2.46e-16 |
SMART |
|
SH3
|
1151 |
1206 |
7.97e-25 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064797
AA Change: S51T
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000066361
Gene: ENSMUSG00000022957
AA Change: S51T
| Domain | Start | End | E-Value | Type |
|---|
|
EH
|
14 |
108 |
1.34e-43 |
SMART |
|
EFh
|
57 |
85 |
2.14e-1 |
SMART |
|
low complexity region
|
138 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
182 |
192 |
N/A |
INTRINSIC |
|
EH
|
214 |
309 |
2.55e-49 |
SMART |
|
EFh
|
258 |
286 |
1.77e-2 |
SMART |
|
low complexity region
|
330 |
342 |
N/A |
INTRINSIC |
|
coiled coil region
|
352 |
447 |
N/A |
INTRINSIC |
|
coiled coil region
|
468 |
515 |
N/A |
INTRINSIC |
|
low complexity region
|
526 |
537 |
N/A |
INTRINSIC |
|
coiled coil region
|
561 |
661 |
N/A |
INTRINSIC |
|
low complexity region
|
687 |
696 |
N/A |
INTRINSIC |
|
SH3
|
741 |
803 |
1.62e-16 |
SMART |
|
SH3
|
914 |
968 |
2.64e-16 |
SMART |
|
SH3
|
1003 |
1057 |
1.82e-19 |
SMART |
|
SH3
|
1075 |
1135 |
2.46e-16 |
SMART |
|
SH3
|
1156 |
1211 |
7.97e-25 |
SMART |
|
RhoGEF
|
1239 |
1420 |
1e-63 |
SMART |
|
PH
|
1461 |
1571 |
6.07e-13 |
SMART |
|
C2
|
1595 |
1692 |
1.58e-18 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095909
AA Change: S51T
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000093598
Gene: ENSMUSG00000022957
AA Change: S51T
| Domain | Start | End | E-Value | Type |
|---|
|
EH
|
14 |
108 |
1.34e-43 |
SMART |
|
EFh
|
57 |
85 |
2.14e-1 |
SMART |
|
low complexity region
|
138 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
182 |
192 |
N/A |
INTRINSIC |
|
EH
|
214 |
309 |
2.55e-49 |
SMART |
|
EFh
|
258 |
286 |
1.77e-2 |
SMART |
|
low complexity region
|
330 |
342 |
N/A |
INTRINSIC |
|
coiled coil region
|
352 |
447 |
N/A |
INTRINSIC |
|
coiled coil region
|
468 |
515 |
N/A |
INTRINSIC |
|
low complexity region
|
526 |
537 |
N/A |
INTRINSIC |
|
coiled coil region
|
561 |
607 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113993
AA Change: S51T
PolyPhen 2
Score 0.449 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000109626
Gene: ENSMUSG00000022957
AA Change: S51T
| Domain | Start | End | E-Value | Type |
|---|
|
EH
|
14 |
108 |
1.34e-43 |
SMART |
|
EFh
|
57 |
85 |
2.14e-1 |
SMART |
|
low complexity region
|
138 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
182 |
192 |
N/A |
INTRINSIC |
|
EH
|
214 |
309 |
2.55e-49 |
SMART |
|
EFh
|
258 |
286 |
1.77e-2 |
SMART |
|
low complexity region
|
330 |
342 |
N/A |
INTRINSIC |
|
coiled coil region
|
352 |
447 |
N/A |
INTRINSIC |
|
coiled coil region
|
468 |
515 |
N/A |
INTRINSIC |
|
low complexity region
|
526 |
537 |
N/A |
INTRINSIC |
|
coiled coil region
|
561 |
661 |
N/A |
INTRINSIC |
|
low complexity region
|
687 |
696 |
N/A |
INTRINSIC |
|
SH3
|
741 |
803 |
1.62e-16 |
SMART |
|
SH3
|
914 |
968 |
2.64e-16 |
SMART |
|
SH3
|
1004 |
1064 |
2.46e-16 |
SMART |
|
SH3
|
1085 |
1140 |
7.97e-25 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113996
AA Change: S51T
PolyPhen 2
Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000109629
Gene: ENSMUSG00000022957
AA Change: S51T
| Domain | Start | End | E-Value | Type |
|---|
|
EH
|
14 |
108 |
1.34e-43 |
SMART |
|
EFh
|
57 |
85 |
2.14e-1 |
SMART |
|
low complexity region
|
138 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
182 |
192 |
N/A |
INTRINSIC |
|
EH
|
214 |
309 |
2.55e-49 |
SMART |
|
EFh
|
258 |
286 |
1.77e-2 |
SMART |
|
low complexity region
|
330 |
342 |
N/A |
INTRINSIC |
|
coiled coil region
|
352 |
447 |
N/A |
INTRINSIC |
|
coiled coil region
|
468 |
515 |
N/A |
INTRINSIC |
|
low complexity region
|
526 |
537 |
N/A |
INTRINSIC |
|
coiled coil region
|
561 |
661 |
N/A |
INTRINSIC |
|
low complexity region
|
687 |
696 |
N/A |
INTRINSIC |
|
SH3
|
741 |
798 |
1.05e-19 |
SMART |
|
SH3
|
909 |
963 |
2.64e-16 |
SMART |
|
SH3
|
999 |
1059 |
2.46e-16 |
SMART |
|
SH3
|
1080 |
1135 |
7.97e-25 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113999
AA Change: S51T
PolyPhen 2
Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000109632
Gene: ENSMUSG00000022957
AA Change: S51T
| Domain | Start | End | E-Value | Type |
|---|
|
EH
|
14 |
108 |
1.34e-43 |
SMART |
|
EFh
|
57 |
85 |
2.14e-1 |
SMART |
|
low complexity region
|
138 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
182 |
192 |
N/A |
INTRINSIC |
|
EH
|
214 |
309 |
2.55e-49 |
SMART |
|
EFh
|
258 |
286 |
1.77e-2 |
SMART |
|
low complexity region
|
330 |
342 |
N/A |
INTRINSIC |
|
coiled coil region
|
352 |
447 |
N/A |
INTRINSIC |
|
coiled coil region
|
468 |
515 |
N/A |
INTRINSIC |
|
low complexity region
|
526 |
537 |
N/A |
INTRINSIC |
|
coiled coil region
|
561 |
661 |
N/A |
INTRINSIC |
|
low complexity region
|
687 |
696 |
N/A |
INTRINSIC |
|
SH3
|
741 |
803 |
1.62e-16 |
SMART |
|
SH3
|
914 |
968 |
2.64e-16 |
SMART |
|
SH3
|
1003 |
1057 |
1.82e-19 |
SMART |
|
SH3
|
1075 |
1135 |
2.46e-16 |
SMART |
|
SH3
|
1156 |
1211 |
7.97e-25 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114001
AA Change: S51T
PolyPhen 2
Score 0.591 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000109634
Gene: ENSMUSG00000022957
AA Change: S51T
| Domain | Start | End | E-Value | Type |
|---|
|
EH
|
14 |
108 |
1.34e-43 |
SMART |
|
EFh
|
57 |
85 |
2.14e-1 |
SMART |
|
low complexity region
|
145 |
155 |
N/A |
INTRINSIC |
|
EH
|
177 |
272 |
2.55e-49 |
SMART |
|
EFh
|
221 |
249 |
1.77e-2 |
SMART |
|
low complexity region
|
293 |
305 |
N/A |
INTRINSIC |
|
coiled coil region
|
315 |
410 |
N/A |
INTRINSIC |
|
coiled coil region
|
431 |
478 |
N/A |
INTRINSIC |
|
low complexity region
|
489 |
500 |
N/A |
INTRINSIC |
|
coiled coil region
|
524 |
624 |
N/A |
INTRINSIC |
|
low complexity region
|
650 |
659 |
N/A |
INTRINSIC |
|
SH3
|
704 |
761 |
1.05e-19 |
SMART |
|
SH3
|
872 |
926 |
2.64e-16 |
SMART |
|
SH3
|
961 |
1015 |
1.82e-19 |
SMART |
|
SH3
|
1033 |
1093 |
2.46e-16 |
SMART |
|
SH3
|
1114 |
1169 |
7.97e-25 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133389
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114002
AA Change: S51T
PolyPhen 2
Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000109635
Gene: ENSMUSG00000022957
AA Change: S51T
| Domain | Start | End | E-Value | Type |
|---|
|
EH
|
14 |
108 |
1.34e-43 |
SMART |
|
EFh
|
57 |
85 |
2.14e-1 |
SMART |
|
low complexity region
|
138 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
182 |
192 |
N/A |
INTRINSIC |
|
EH
|
214 |
309 |
2.55e-49 |
SMART |
|
EFh
|
258 |
286 |
1.77e-2 |
SMART |
|
low complexity region
|
330 |
342 |
N/A |
INTRINSIC |
|
coiled coil region
|
352 |
447 |
N/A |
INTRINSIC |
|
coiled coil region
|
468 |
515 |
N/A |
INTRINSIC |
|
low complexity region
|
526 |
537 |
N/A |
INTRINSIC |
|
coiled coil region
|
561 |
661 |
N/A |
INTRINSIC |
|
low complexity region
|
687 |
696 |
N/A |
INTRINSIC |
|
SH3
|
741 |
798 |
1.05e-19 |
SMART |
|
SH3
|
909 |
963 |
2.64e-16 |
SMART |
|
SH3
|
998 |
1052 |
1.82e-19 |
SMART |
|
SH3
|
1070 |
1130 |
2.46e-16 |
SMART |
|
SH3
|
1151 |
1206 |
7.97e-25 |
SMART |
|
RhoGEF
|
1234 |
1415 |
1e-63 |
SMART |
|
PH
|
1456 |
1566 |
6.07e-13 |
SMART |
|
C2
|
1590 |
1687 |
1.58e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135057
AA Change: S51T
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000117018
Gene: ENSMUSG00000022957
AA Change: S51T
| Domain | Start | End | E-Value | Type |
|---|
|
EH
|
14 |
108 |
1.34e-43 |
SMART |
|
EFh
|
57 |
85 |
2.14e-1 |
SMART |
|
low complexity region
|
121 |
131 |
N/A |
INTRINSIC |
|
EH
|
153 |
248 |
2.55e-49 |
SMART |
|
EFh
|
197 |
225 |
1.77e-2 |
SMART |
|
low complexity region
|
269 |
281 |
N/A |
INTRINSIC |
|
coiled coil region
|
291 |
359 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131983
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139890
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231974
AA Change: S51T
PolyPhen 2
Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231535
AA Change: S51T
PolyPhen 2
Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159295
|
| SMART Domains |
Protein: ENSMUSP00000125172
Gene: ENSMUSG00000116933
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OSCP
|
1 |
89 |
1.1e-16 |
PFAM |
|
| Meta Mutation Damage Score |
0.2932 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
99% (91/92) |
| 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 cytoplasmic membrane-associated protein that indirectly coordinates endocytic membrane traffic with the actin assembly machinery. In addition, the encoded protein may regulate the formation of clathrin-coated vesicles and could be involved in synaptic vesicle recycling. This protein has been shown to interact with dynamin, CDC42, SNAP23, SNAP25, SPIN90, EPS15, EPN1, EPN2, and STN2. Multiple transcript variants encoding different isoforms have been found for this gene, but the full-length nature of only two of them have been characterized so far. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous for a gene trapped allele exhibit embryonic lethal. Mice homozygous for a null allele exhibit some postnatal lethality and impaired vesicle recycling in surviving mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
A |
G |
8: 106,436,729 (GRCm39) |
*299W |
probably null |
Het |
| 4933412E24Rik |
G |
A |
15: 59,887,817 (GRCm39) |
L208F |
possibly damaging |
Het |
| Abca8b |
G |
A |
11: 109,865,338 (GRCm39) |
A373V |
probably benign |
Het |
| Actn3 |
A |
T |
19: 4,914,482 (GRCm39) |
W549R |
probably benign |
Het |
| Adamts4 |
C |
T |
1: 171,080,000 (GRCm39) |
|
probably benign |
Het |
| Adcy4 |
T |
C |
14: 56,011,179 (GRCm39) |
I615V |
probably benign |
Het |
| Akap1 |
A |
G |
11: 88,735,379 (GRCm39) |
S428P |
possibly damaging |
Het |
| Akap13 |
A |
T |
7: 75,393,252 (GRCm39) |
R2476W |
probably damaging |
Het |
| Alx3 |
A |
G |
3: 107,507,943 (GRCm39) |
S151G |
possibly damaging |
Het |
| Aoah |
T |
A |
13: 21,099,151 (GRCm39) |
Y243* |
probably null |
Het |
| Asap1 |
A |
G |
15: 63,966,030 (GRCm39) |
V1025A |
probably benign |
Het |
| Atp8b1 |
A |
T |
18: 64,684,937 (GRCm39) |
I728N |
probably damaging |
Het |
| Baz2b |
C |
A |
2: 59,755,226 (GRCm39) |
V1001L |
possibly damaging |
Het |
| Bmpr2 |
T |
A |
1: 59,909,615 (GRCm39) |
S1030T |
probably benign |
Het |
| Cacna2d3 |
A |
T |
14: 28,678,743 (GRCm39) |
|
probably null |
Het |
| Casp3 |
A |
T |
8: 47,087,314 (GRCm39) |
N87I |
probably benign |
Het |
| Ccdc171 |
T |
A |
4: 83,612,569 (GRCm39) |
L995Q |
probably damaging |
Het |
| Ccdc80 |
T |
A |
16: 44,924,776 (GRCm39) |
Y637N |
probably damaging |
Het |
| Ccr4 |
A |
G |
9: 114,321,901 (GRCm39) |
F55L |
probably benign |
Het |
| Cmah |
T |
A |
13: 24,648,247 (GRCm39) |
V494E |
probably damaging |
Het |
| Cnot6l |
A |
G |
5: 96,230,882 (GRCm39) |
Y362H |
probably damaging |
Het |
| Coq6 |
T |
C |
12: 84,417,726 (GRCm39) |
V222A |
probably damaging |
Het |
| Ctdspl2 |
C |
A |
2: 121,823,879 (GRCm39) |
T240N |
possibly damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,085,754 (GRCm39) |
T248A |
possibly damaging |
Het |
| Dctn6 |
A |
T |
8: 34,559,230 (GRCm39) |
|
probably benign |
Het |
| Dhx34 |
T |
C |
7: 15,933,727 (GRCm39) |
D955G |
probably benign |
Het |
| Dnaaf5 |
A |
G |
5: 139,155,941 (GRCm39) |
M541V |
probably benign |
Het |
| Dnah17 |
A |
T |
11: 117,999,038 (GRCm39) |
S912T |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,354,474 (GRCm39) |
V2248E |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,156,675 (GRCm39) |
W1502R |
probably damaging |
Het |
| Dzip1 |
A |
T |
14: 119,114,626 (GRCm39) |
V843E |
probably damaging |
Het |
| Esp23 |
G |
T |
17: 39,384,915 (GRCm39) |
T27K |
probably benign |
Het |
| Esp3 |
A |
T |
17: 40,944,420 (GRCm39) |
M21L |
possibly damaging |
Het |
| Fam43b |
T |
A |
4: 138,123,108 (GRCm39) |
T71S |
probably benign |
Het |
| Fpgs |
G |
A |
2: 32,582,673 (GRCm39) |
R63C |
probably damaging |
Het |
| H2-M11 |
G |
T |
17: 36,859,811 (GRCm39) |
W268L |
probably damaging |
Het |
| Inpp5b |
T |
C |
4: 124,645,203 (GRCm39) |
S210P |
probably damaging |
Het |
| Kctd2 |
G |
A |
11: 115,320,205 (GRCm39) |
V246I |
probably damaging |
Het |
| Krt75 |
C |
T |
15: 101,476,556 (GRCm39) |
G403E |
probably damaging |
Het |
| Lamp3 |
T |
A |
16: 19,520,040 (GRCm39) |
T48S |
probably benign |
Het |
| Lyzl4 |
C |
A |
9: 121,412,075 (GRCm39) |
V114L |
probably damaging |
Het |
| Maml3 |
C |
A |
3: 52,011,345 (GRCm39) |
E74* |
probably null |
Het |
| Map2k7 |
G |
A |
8: 4,297,751 (GRCm39) |
|
probably benign |
Het |
| Mapk8ip3 |
A |
G |
17: 25,120,389 (GRCm39) |
V883A |
probably benign |
Het |
| Mbtps1 |
C |
T |
8: 120,235,667 (GRCm39) |
V1004I |
probably benign |
Het |
| Metap1 |
G |
T |
3: 138,188,850 (GRCm39) |
H48Q |
probably damaging |
Het |
| Mical2 |
T |
A |
7: 111,917,831 (GRCm39) |
V396E |
probably damaging |
Het |
| Mks1 |
T |
A |
11: 87,744,549 (GRCm39) |
|
probably benign |
Het |
| Ndst1 |
T |
C |
18: 60,828,548 (GRCm39) |
T669A |
probably benign |
Het |
| Obox3 |
T |
C |
7: 15,361,235 (GRCm39) |
K10R |
probably damaging |
Het |
| Opn3 |
T |
C |
1: 175,491,127 (GRCm39) |
Y302C |
probably damaging |
Het |
| Or4f62 |
T |
A |
2: 111,986,916 (GRCm39) |
S207T |
probably damaging |
Het |
| Or6b6 |
C |
T |
7: 106,570,974 (GRCm39) |
M192I |
probably benign |
Het |
| Or9g8 |
T |
G |
2: 85,606,970 (GRCm39) |
V14G |
possibly damaging |
Het |
| Pdzph1 |
A |
T |
17: 59,281,751 (GRCm39) |
V177D |
probably benign |
Het |
| Pex5l |
T |
A |
3: 33,006,639 (GRCm39) |
I577F |
probably damaging |
Het |
| Pmpcb |
T |
A |
5: 21,953,851 (GRCm39) |
Y366* |
probably null |
Het |
| Prr14l |
A |
T |
5: 32,987,281 (GRCm39) |
M738K |
probably benign |
Het |
| Prx |
T |
C |
7: 27,217,004 (GRCm39) |
S641P |
probably benign |
Het |
| Ptchd3 |
A |
G |
11: 121,721,883 (GRCm39) |
Y252C |
possibly damaging |
Het |
| Reg3a |
A |
G |
6: 78,358,883 (GRCm39) |
E27G |
probably damaging |
Het |
| Ripor2 |
A |
G |
13: 24,878,124 (GRCm39) |
T300A |
possibly damaging |
Het |
| Sdf4 |
T |
A |
4: 156,093,642 (GRCm39) |
S259T |
probably damaging |
Het |
| Sike1 |
A |
G |
3: 102,904,730 (GRCm39) |
|
probably null |
Het |
| Sis |
T |
G |
3: 72,850,881 (GRCm39) |
I606L |
probably benign |
Het |
| Slc30a9 |
T |
C |
5: 67,482,026 (GRCm39) |
I94T |
probably benign |
Het |
| Slc5a4a |
T |
C |
10: 76,014,065 (GRCm39) |
I424T |
probably damaging |
Het |
| Spx |
C |
T |
6: 142,362,116 (GRCm39) |
R72* |
probably null |
Het |
| St7 |
C |
A |
6: 17,819,265 (GRCm39) |
N56K |
probably damaging |
Het |
| Tcte2 |
C |
A |
17: 13,948,270 (GRCm39) |
G3V |
probably damaging |
Het |
| Tent5b |
A |
G |
4: 133,213,393 (GRCm39) |
|
probably null |
Het |
| Tgfb3 |
T |
C |
12: 86,108,955 (GRCm39) |
D258G |
probably benign |
Het |
| Timeless |
G |
T |
10: 128,083,230 (GRCm39) |
G659V |
probably benign |
Het |
| Tnn |
T |
C |
1: 159,958,443 (GRCm39) |
R467G |
possibly damaging |
Het |
| Tor1b |
T |
C |
2: 30,846,589 (GRCm39) |
|
probably null |
Het |
| Trank1 |
T |
A |
9: 111,194,709 (GRCm39) |
L911Q |
probably damaging |
Het |
| Ttll2 |
C |
T |
17: 7,618,998 (GRCm39) |
V310I |
probably benign |
Het |
| Ttyh3 |
A |
T |
5: 140,615,221 (GRCm39) |
I389N |
probably damaging |
Het |
| Tut4 |
T |
C |
4: 108,406,417 (GRCm39) |
|
probably benign |
Het |
| Ube3b |
T |
C |
5: 114,536,488 (GRCm39) |
V216A |
probably benign |
Het |
| Vezf1 |
T |
A |
11: 87,965,520 (GRCm39) |
V254E |
probably damaging |
Het |
| Vmn1r122 |
T |
C |
7: 20,867,227 (GRCm39) |
E276G |
probably benign |
Het |
| Vmn1r167 |
T |
A |
7: 23,204,161 (GRCm39) |
N285I |
probably benign |
Het |
| Vmn2r45 |
T |
A |
7: 8,484,480 (GRCm39) |
I442F |
probably benign |
Het |
| Vwa8 |
C |
A |
14: 79,420,522 (GRCm39) |
A1741E |
probably damaging |
Het |
| Wdr20 |
T |
A |
12: 110,704,668 (GRCm39) |
V69E |
probably damaging |
Het |
| Xkr4 |
T |
G |
1: 3,287,074 (GRCm39) |
Q372P |
probably damaging |
Het |
|
| Other mutations in Itsn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01109:Itsn1
|
APN |
16 |
91,603,089 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01799:Itsn1
|
APN |
16 |
91,645,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02328:Itsn1
|
APN |
16 |
91,612,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02333:Itsn1
|
APN |
16 |
91,617,564 (GRCm39) |
intron |
probably benign |
|
|
IGL02503:Itsn1
|
APN |
16 |
91,686,092 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL02628:Itsn1
|
APN |
16 |
91,696,511 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02666:Itsn1
|
APN |
16 |
91,617,606 (GRCm39) |
intron |
probably benign |
|
|
IGL03007:Itsn1
|
APN |
16 |
91,581,050 (GRCm39) |
splice site |
probably benign |
|
|
IGL03223:Itsn1
|
APN |
16 |
91,702,194 (GRCm39) |
missense |
probably benign |
0.00 |
|
raphael
|
UTSW |
16 |
91,617,684 (GRCm39) |
intron |
probably benign |
|
|
Sector
|
UTSW |
16 |
91,705,375 (GRCm39) |
critical splice donor site |
probably null |
|
|
Weevil
|
UTSW |
16 |
91,615,440 (GRCm39) |
intron |
probably benign |
|
|
R0234:Itsn1
|
UTSW |
16 |
91,625,168 (GRCm39) |
nonsense |
probably null |
|
|
R0234:Itsn1
|
UTSW |
16 |
91,625,168 (GRCm39) |
nonsense |
probably null |
|
|
R0255:Itsn1
|
UTSW |
16 |
91,602,978 (GRCm39) |
unclassified |
probably benign |
|
|
R0432:Itsn1
|
UTSW |
16 |
91,612,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0455:Itsn1
|
UTSW |
16 |
91,665,036 (GRCm39) |
intron |
probably benign |
|
|
R0471:Itsn1
|
UTSW |
16 |
91,696,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0558:Itsn1
|
UTSW |
16 |
91,696,511 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0563:Itsn1
|
UTSW |
16 |
91,617,684 (GRCm39) |
intron |
probably benign |
|
|
R1657:Itsn1
|
UTSW |
16 |
91,706,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1671:Itsn1
|
UTSW |
16 |
91,609,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1742:Itsn1
|
UTSW |
16 |
91,613,847 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1859:Itsn1
|
UTSW |
16 |
91,686,042 (GRCm39) |
intron |
probably benign |
|
|
R1898:Itsn1
|
UTSW |
16 |
91,696,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2016:Itsn1
|
UTSW |
16 |
91,702,389 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2221:Itsn1
|
UTSW |
16 |
91,650,656 (GRCm39) |
intron |
probably benign |
|
|
R2244:Itsn1
|
UTSW |
16 |
91,650,659 (GRCm39) |
missense |
probably null |
|
|
R3160:Itsn1
|
UTSW |
16 |
91,649,932 (GRCm39) |
nonsense |
probably null |
|
|
R3162:Itsn1
|
UTSW |
16 |
91,649,932 (GRCm39) |
nonsense |
probably null |
|
|
R3814:Itsn1
|
UTSW |
16 |
91,649,809 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4162:Itsn1
|
UTSW |
16 |
91,649,790 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4254:Itsn1
|
UTSW |
16 |
91,615,440 (GRCm39) |
intron |
probably benign |
|
|
R4319:Itsn1
|
UTSW |
16 |
91,615,440 (GRCm39) |
intron |
probably benign |
|
|
R4321:Itsn1
|
UTSW |
16 |
91,615,440 (GRCm39) |
intron |
probably benign |
|
|
R4323:Itsn1
|
UTSW |
16 |
91,615,440 (GRCm39) |
intron |
probably benign |
|
|
R4326:Itsn1
|
UTSW |
16 |
91,650,743 (GRCm39) |
intron |
probably benign |
|
|
R4515:Itsn1
|
UTSW |
16 |
91,696,537 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4584:Itsn1
|
UTSW |
16 |
91,617,471 (GRCm39) |
intron |
probably benign |
|
|
R4600:Itsn1
|
UTSW |
16 |
91,696,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4649:Itsn1
|
UTSW |
16 |
91,638,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4834:Itsn1
|
UTSW |
16 |
91,703,677 (GRCm39) |
nonsense |
probably null |
|
|
R5036:Itsn1
|
UTSW |
16 |
91,579,123 (GRCm39) |
splice site |
probably benign |
|
|
R5122:Itsn1
|
UTSW |
16 |
91,690,732 (GRCm39) |
intron |
probably benign |
|
|
R5161:Itsn1
|
UTSW |
16 |
91,705,726 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5437:Itsn1
|
UTSW |
16 |
91,615,479 (GRCm39) |
intron |
probably benign |
|
|
R5538:Itsn1
|
UTSW |
16 |
91,580,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5683:Itsn1
|
UTSW |
16 |
91,702,268 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5697:Itsn1
|
UTSW |
16 |
91,598,477 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5749:Itsn1
|
UTSW |
16 |
91,703,743 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6083:Itsn1
|
UTSW |
16 |
91,649,899 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6148:Itsn1
|
UTSW |
16 |
91,613,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6291:Itsn1
|
UTSW |
16 |
91,664,984 (GRCm39) |
intron |
probably benign |
|
|
R6524:Itsn1
|
UTSW |
16 |
91,708,883 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7175:Itsn1
|
UTSW |
16 |
91,664,938 (GRCm39) |
missense |
unknown |
|
|
R7261:Itsn1
|
UTSW |
16 |
91,702,194 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7320:Itsn1
|
UTSW |
16 |
91,636,587 (GRCm39) |
missense |
unknown |
|
|
R7366:Itsn1
|
UTSW |
16 |
91,705,338 (GRCm39) |
missense |
unknown |
|
|
R7462:Itsn1
|
UTSW |
16 |
91,650,073 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7665:Itsn1
|
UTSW |
16 |
91,638,491 (GRCm39) |
missense |
unknown |
|
|
R7720:Itsn1
|
UTSW |
16 |
91,664,971 (GRCm39) |
missense |
unknown |
|
|
R7856:Itsn1
|
UTSW |
16 |
91,705,375 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7864:Itsn1
|
UTSW |
16 |
91,598,454 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7896:Itsn1
|
UTSW |
16 |
91,615,446 (GRCm39) |
missense |
unknown |
|
|
R7897:Itsn1
|
UTSW |
16 |
91,615,446 (GRCm39) |
missense |
unknown |
|
|
R7980:Itsn1
|
UTSW |
16 |
91,702,182 (GRCm39) |
missense |
unknown |
|
|
R7998:Itsn1
|
UTSW |
16 |
91,647,824 (GRCm39) |
missense |
unknown |
|
|
R8075:Itsn1
|
UTSW |
16 |
91,686,097 (GRCm39) |
missense |
unknown |
|
|
R8144:Itsn1
|
UTSW |
16 |
91,708,893 (GRCm39) |
missense |
unknown |
|
|
R8160:Itsn1
|
UTSW |
16 |
91,615,446 (GRCm39) |
missense |
unknown |
|
|
R8161:Itsn1
|
UTSW |
16 |
91,615,446 (GRCm39) |
missense |
unknown |
|
|
R8176:Itsn1
|
UTSW |
16 |
91,645,597 (GRCm39) |
splice site |
probably null |
|
|
R8215:Itsn1
|
UTSW |
16 |
91,608,996 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8385:Itsn1
|
UTSW |
16 |
91,690,699 (GRCm39) |
missense |
unknown |
|
|
R8725:Itsn1
|
UTSW |
16 |
91,636,721 (GRCm39) |
missense |
unknown |
|
|
R9012:Itsn1
|
UTSW |
16 |
91,645,849 (GRCm39) |
missense |
unknown |
|
|
R9039:Itsn1
|
UTSW |
16 |
91,703,658 (GRCm39) |
missense |
unknown |
|
|
R9092:Itsn1
|
UTSW |
16 |
91,609,002 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9134:Itsn1
|
UTSW |
16 |
91,666,514 (GRCm39) |
missense |
unknown |
|
|
R9401:Itsn1
|
UTSW |
16 |
91,612,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9449:Itsn1
|
UTSW |
16 |
91,625,264 (GRCm39) |
makesense |
probably null |
|
|
R9568:Itsn1
|
UTSW |
16 |
91,649,782 (GRCm39) |
missense |
probably benign |
|
|
R9616:Itsn1
|
UTSW |
16 |
91,650,055 (GRCm39) |
missense |
probably benign |
0.11 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTAAAGTGGACGGTCATCCCAG -3'
(R):5'- TAACTTCTGCACTGCCACTTAATG -3'
Sequencing Primer
(F):5'- CCCTTTCAAGTGCTGAGTCAGAG -3'
(R):5'- GCCACTTAATGTTTGCCCTAGG -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation