Incidental Mutation 'R7941:Anks1b'
| ID |
649062 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Anks1b
|
| Ensembl Gene |
ENSMUSG00000058589 |
| Gene Name |
ankyrin repeat and sterile alpha motif domain containing 1B |
| Synonyms |
C030032C09Rik, AIDA-1b, LOC380650, Gm10937, E530015N03Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Is this an essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7941 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
89873509-90973300 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 90577155 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 55
(N55I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138679
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099364]
[ENSMUST00000099368]
[ENSMUST00000182045]
[ENSMUST00000182053]
[ENSMUST00000182083]
[ENSMUST00000182113]
[ENSMUST00000182284]
[ENSMUST00000182356]
[ENSMUST00000182427]
[ENSMUST00000182430]
[ENSMUST00000182550]
[ENSMUST00000182595]
[ENSMUST00000182600]
[ENSMUST00000182786]
[ENSMUST00000182907]
[ENSMUST00000182960]
[ENSMUST00000183136]
[ENSMUST00000183156]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099364
AA Change: N55I
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000096965
Gene: ENSMUSG00000058589
AA Change: N55I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
58 |
N/A |
INTRINSIC |
|
PTB
|
131 |
269 |
1.5e-40 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099368
AA Change: N828I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000096968
Gene: ENSMUSG00000058589
AA Change: N828I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
46 |
N/A |
INTRINSIC |
|
ANK
|
58 |
87 |
1.88e-5 |
SMART |
|
ANK
|
91 |
123 |
3.13e-2 |
SMART |
|
ANK
|
127 |
156 |
6.92e-4 |
SMART |
|
ANK
|
160 |
189 |
3.08e-1 |
SMART |
|
ANK
|
193 |
222 |
1.43e-5 |
SMART |
|
ANK
|
225 |
254 |
4.75e-2 |
SMART |
|
low complexity region
|
498 |
513 |
N/A |
INTRINSIC |
|
low complexity region
|
551 |
577 |
N/A |
INTRINSIC |
|
low complexity region
|
659 |
670 |
N/A |
INTRINSIC |
|
SAM
|
806 |
875 |
2.06e-19 |
SMART |
|
SAM
|
880 |
931 |
4.44e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182045
AA Change: N55I
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000138679
Gene: ENSMUSG00000058589
AA Change: N55I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SAM_1
|
34 |
69 |
1.6e-9 |
PFAM |
|
Pfam:SAM_2
|
34 |
75 |
1.1e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182053
AA Change: N24I
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000138644
Gene: ENSMUSG00000058589
AA Change: N24I
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
2 |
71 |
1.19e-19 |
SMART |
|
SAM
|
76 |
144 |
5.66e-17 |
SMART |
|
PTB
|
192 |
330 |
2.94e-38 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182083
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182113
AA Change: N55I
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000138655
Gene: ENSMUSG00000058589
AA Change: N55I
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
33 |
102 |
1.19e-19 |
SMART |
|
SAM
|
107 |
175 |
5.66e-17 |
SMART |
|
low complexity region
|
195 |
210 |
N/A |
INTRINSIC |
|
PTB
|
307 |
445 |
2.94e-38 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182284
AA Change: N55I
PolyPhen 2
Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000138794
Gene: ENSMUSG00000058589
AA Change: N55I
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
33 |
102 |
1.19e-19 |
SMART |
|
SAM
|
107 |
175 |
5.66e-17 |
SMART |
|
PTB
|
248 |
386 |
2.94e-38 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182356
|
| SMART Domains |
Protein: ENSMUSP00000138234
Gene: ENSMUSG00000058589
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
1 |
45 |
4.05e1 |
SMART |
|
SAM
|
50 |
118 |
5.66e-17 |
SMART |
|
low complexity region
|
138 |
153 |
N/A |
INTRINSIC |
|
PTB
|
226 |
364 |
2.94e-38 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182427
AA Change: N24I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000138480
Gene: ENSMUSG00000058589
AA Change: N24I
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
2 |
71 |
1.19e-19 |
SMART |
|
SAM
|
76 |
144 |
5.66e-17 |
SMART |
|
low complexity region
|
164 |
179 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182430
AA Change: N55I
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000138660
Gene: ENSMUSG00000058589
AA Change: N55I
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
33 |
102 |
1.19e-19 |
SMART |
|
SAM
|
107 |
175 |
5.66e-17 |
SMART |
|
PTB
|
223 |
361 |
2.94e-38 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182550
AA Change: N55I
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000138643
Gene: ENSMUSG00000058589
AA Change: N55I
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
33 |
102 |
1.19e-19 |
SMART |
|
SAM
|
107 |
175 |
5.66e-17 |
SMART |
|
low complexity region
|
195 |
210 |
N/A |
INTRINSIC |
|
PTB
|
308 |
446 |
2.94e-38 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182595
AA Change: N55I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000138314
Gene: ENSMUSG00000058589
AA Change: N55I
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
33 |
102 |
1.19e-19 |
SMART |
|
SAM
|
107 |
175 |
5.66e-17 |
SMART |
|
low complexity region
|
195 |
210 |
N/A |
INTRINSIC |
|
PTB
|
283 |
421 |
2.94e-38 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182600
|
| SMART Domains |
Protein: ENSMUSP00000138650
Gene: ENSMUSG00000058589
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
1 |
45 |
4.05e1 |
SMART |
|
SAM
|
50 |
118 |
5.66e-17 |
SMART |
|
PTB
|
216 |
354 |
2.94e-38 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182786
|
| SMART Domains |
Protein: ENSMUSP00000138720
Gene: ENSMUSG00000058589
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SAM_2
|
1 |
42 |
8.4e-8 |
PFAM |
|
Pfam:SAM_1
|
2 |
43 |
5.4e-7 |
PFAM |
|
Pfam:SAM_1
|
51 |
97 |
4.4e-10 |
PFAM |
|
Pfam:SAM_2
|
52 |
95 |
6.1e-7 |
PFAM |
|
PTB
|
155 |
293 |
2.94e-38 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182907
|
| SMART Domains |
Protein: ENSMUSP00000138614
Gene: ENSMUSG00000058589
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
45 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182960
AA Change: N55I
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000138222
Gene: ENSMUSG00000058589
AA Change: N55I
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
33 |
102 |
1.19e-19 |
SMART |
|
SAM
|
107 |
175 |
5.66e-17 |
SMART |
|
PTB
|
247 |
385 |
2.94e-38 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183136
AA Change: N55I
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000138738
Gene: ENSMUSG00000058589
AA Change: N55I
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
33 |
102 |
1.19e-19 |
SMART |
|
SAM
|
107 |
175 |
5.66e-17 |
SMART |
|
low complexity region
|
195 |
210 |
N/A |
INTRINSIC |
|
PTB
|
307 |
445 |
2.94e-38 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000183156
AA Change: N828I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138539
Gene: ENSMUSG00000058589
AA Change: N828I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
46 |
N/A |
INTRINSIC |
|
ANK
|
58 |
87 |
1.88e-5 |
SMART |
|
ANK
|
91 |
123 |
3.13e-2 |
SMART |
|
ANK
|
127 |
156 |
6.92e-4 |
SMART |
|
ANK
|
160 |
189 |
3.08e-1 |
SMART |
|
ANK
|
193 |
222 |
1.43e-5 |
SMART |
|
ANK
|
225 |
254 |
4.75e-2 |
SMART |
|
low complexity region
|
498 |
513 |
N/A |
INTRINSIC |
|
low complexity region
|
551 |
577 |
N/A |
INTRINSIC |
|
low complexity region
|
659 |
670 |
N/A |
INTRINSIC |
|
SAM
|
806 |
875 |
2.06e-19 |
SMART |
|
SAM
|
880 |
948 |
5.66e-17 |
SMART |
|
low complexity region
|
968 |
983 |
N/A |
INTRINSIC |
|
PTB
|
1056 |
1194 |
2.94e-38 |
SMART |
|
| Meta Mutation Damage Score |
0.2139 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (43/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multi-domain protein that is predominantly expressed in brain and testis. This protein interacts with amyloid beta protein precursor (AbetaPP) and may have a role in normal brain development, and in the pathogenesis of Alzheimer's disease. Expression of this gene has been shown to be elevated in patients with pre-B cell acute lymphocytic leukemia associated with t(1;19) translocation. Alternatively spliced transcript variants encoding different isoforms (some with different subcellular localization, PMID:15004329) have been described for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a conditional allele activated in neurons alters hippocampal synaptic transmission. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl1 |
T |
C |
2: 31,689,679 |
|
probably benign |
Het |
| AI467606 |
A |
G |
7: 127,092,421 |
E56G |
probably damaging |
Het |
| Ak9 |
C |
T |
10: 41,409,137 |
P1403S |
unknown |
Het |
| Akr1c14 |
A |
G |
13: 4,059,713 |
K28E |
probably benign |
Het |
| Ampd2 |
C |
A |
3: 108,080,116 |
V134L |
probably benign |
Het |
| C87414 |
A |
T |
5: 93,638,028 |
V131D |
probably benign |
Het |
| Cabyr |
T |
C |
18: 12,744,768 |
L54P |
probably damaging |
Het |
| Cachd1 |
A |
T |
4: 100,988,173 |
N954I |
probably damaging |
Het |
| Cenpf |
A |
G |
1: 189,657,286 |
S1450P |
probably damaging |
Het |
| Chst10 |
T |
A |
1: 38,871,691 |
I131L |
probably damaging |
Het |
| Cluh |
A |
T |
11: 74,659,757 |
M270L |
probably benign |
Het |
| Dagla |
T |
C |
19: 10,271,503 |
H29R |
probably damaging |
Het |
| Dusp5 |
A |
G |
19: 53,537,533 |
N202S |
probably benign |
Het |
| Elavl3 |
A |
G |
9: 22,036,316 |
I110T |
possibly damaging |
Het |
| Fam222b |
G |
T |
11: 78,155,059 |
G482V |
possibly damaging |
Het |
| Fbxl7 |
A |
G |
15: 26,543,613 |
L316P |
probably damaging |
Het |
| Gad1 |
T |
A |
2: 70,594,585 |
|
probably null |
Het |
| H2-K1 |
T |
C |
17: 33,999,331 |
T204A |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,650,084 |
V3296A |
possibly damaging |
Het |
| Hyal1 |
T |
C |
9: 107,578,100 |
F203S |
probably damaging |
Het |
| Il16 |
T |
A |
7: 83,682,829 |
D181V |
probably damaging |
Het |
| Ip6k1 |
T |
C |
9: 108,024,432 |
F69L |
probably damaging |
Het |
| Klf4 |
G |
A |
4: 55,531,755 |
|
probably benign |
Het |
| Lsr |
T |
G |
7: 30,973,095 |
I27L |
probably benign |
Het |
| Mettl4 |
A |
T |
17: 94,733,194 |
|
probably null |
Het |
| Mpdz |
A |
G |
4: 81,282,750 |
V1902A |
probably benign |
Het |
| Nfkbiz |
C |
T |
16: 55,821,944 |
G37D |
probably damaging |
Het |
| Olfr1131 |
T |
C |
2: 87,628,904 |
V31A |
probably benign |
Het |
| Otogl |
A |
T |
10: 107,806,802 |
|
probably null |
Het |
| Pcdh1 |
T |
C |
18: 38,199,080 |
D429G |
probably damaging |
Het |
| Prelid2 |
A |
T |
18: 41,932,751 |
L73* |
probably null |
Het |
| Psg20 |
T |
A |
7: 18,681,177 |
|
probably null |
Het |
| Ptprb |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
10: 116,283,677 |
|
probably benign |
Het |
| Rab24 |
C |
T |
13: 55,320,307 |
|
probably null |
Het |
| Rag1 |
T |
G |
2: 101,642,346 |
K817T |
probably benign |
Het |
| Rgl2 |
T |
C |
17: 33,931,739 |
V57A |
probably benign |
Het |
| Ric1 |
T |
C |
19: 29,533,259 |
M80T |
probably damaging |
Het |
| Sh3rf3 |
T |
C |
10: 59,007,061 |
I283T |
probably damaging |
Het |
| Skint2 |
C |
A |
4: 112,625,990 |
N197K |
probably damaging |
Het |
| Snapc4 |
A |
G |
2: 26,376,718 |
I126T |
probably damaging |
Het |
| Srcap |
GTCCTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCT |
GTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCT |
7: 127,558,290 |
|
probably benign |
Het |
| Svip |
T |
C |
7: 52,003,413 |
K51R |
probably benign |
Het |
| Syndig1 |
T |
A |
2: 149,899,788 |
V98E |
probably benign |
Het |
| Tshz1 |
A |
T |
18: 84,015,392 |
M297K |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,919,350 |
V3785A |
probably benign |
Het |
| Usf3 |
T |
C |
16: 44,215,561 |
S135P |
probably damaging |
Het |
| Vmn2r10 |
A |
T |
5: 108,996,440 |
M548K |
probably damaging |
Het |
| Vmn2r92 |
T |
C |
17: 18,184,837 |
S748P |
possibly damaging |
Het |
| Zbtb39 |
A |
G |
10: 127,743,540 |
Y661C |
probably damaging |
Het |
| Zfp804b |
A |
G |
5: 6,770,042 |
I1007T |
probably benign |
Het |
| Zscan4-ps2 |
A |
G |
7: 11,517,672 |
I212V |
probably benign |
Het |
|
| Other mutations in Anks1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01669:Anks1b
|
APN |
10 |
90897238 |
splice site |
probably benign |
|
|
IGL01890:Anks1b
|
APN |
10 |
90644527 |
missense |
probably benign |
0.15 |
|
IGL01966:Anks1b
|
APN |
10 |
90895132 |
missense |
probably damaging |
1.00 |
|
IGL02176:Anks1b
|
APN |
10 |
90042668 |
missense |
probably damaging |
0.99 |
|
IGL02205:Anks1b
|
APN |
10 |
90071094 |
missense |
probably benign |
0.00 |
|
IGL02465:Anks1b
|
APN |
10 |
90163265 |
nonsense |
probably null |
|
|
IGL02534:Anks1b
|
APN |
10 |
90895117 |
missense |
probably benign |
0.45 |
|
IGL02554:Anks1b
|
APN |
10 |
90921378 |
missense |
probably damaging |
1.00 |
|
IGL02820:Anks1b
|
APN |
10 |
90077059 |
missense |
possibly damaging |
0.93 |
|
IGL03164:Anks1b
|
APN |
10 |
90042692 |
missense |
probably damaging |
1.00 |
|
R0096:Anks1b
|
UTSW |
10 |
90074062 |
missense |
possibly damaging |
0.90 |
|
R0482:Anks1b
|
UTSW |
10 |
90359195 |
missense |
probably benign |
0.00 |
|
R0542:Anks1b
|
UTSW |
10 |
90073967 |
splice site |
probably benign |
|
|
R0848:Anks1b
|
UTSW |
10 |
90071125 |
missense |
probably damaging |
0.99 |
|
R1056:Anks1b
|
UTSW |
10 |
90921429 |
splice site |
probably null |
|
|
R1398:Anks1b
|
UTSW |
10 |
90050029 |
missense |
probably damaging |
1.00 |
|
R1446:Anks1b
|
UTSW |
10 |
90511073 |
missense |
probably benign |
0.00 |
|
R1548:Anks1b
|
UTSW |
10 |
90049985 |
missense |
possibly damaging |
0.79 |
|
R1551:Anks1b
|
UTSW |
10 |
90076981 |
missense |
probably benign |
0.00 |
|
R1607:Anks1b
|
UTSW |
10 |
90042548 |
missense |
probably damaging |
1.00 |
|
R1667:Anks1b
|
UTSW |
10 |
90511184 |
critical splice donor site |
probably null |
|
|
R1701:Anks1b
|
UTSW |
10 |
90049954 |
missense |
probably damaging |
1.00 |
|
R1843:Anks1b
|
UTSW |
10 |
90512889 |
critical splice donor site |
probably null |
|
|
R1899:Anks1b
|
UTSW |
10 |
90260756 |
missense |
probably damaging |
1.00 |
|
R1957:Anks1b
|
UTSW |
10 |
90049930 |
missense |
probably damaging |
1.00 |
|
R2036:Anks1b
|
UTSW |
10 |
90969853 |
missense |
probably damaging |
0.99 |
|
R2279:Anks1b
|
UTSW |
10 |
90050096 |
missense |
probably damaging |
1.00 |
|
R2280:Anks1b
|
UTSW |
10 |
90966302 |
missense |
probably damaging |
1.00 |
|
R2937:Anks1b
|
UTSW |
10 |
90077066 |
missense |
probably damaging |
1.00 |
|
R3739:Anks1b
|
UTSW |
10 |
90033216 |
missense |
probably damaging |
1.00 |
|
R4061:Anks1b
|
UTSW |
10 |
90307622 |
missense |
probably damaging |
0.98 |
|
R4459:Anks1b
|
UTSW |
10 |
90510844 |
missense |
probably damaging |
1.00 |
|
R4479:Anks1b
|
UTSW |
10 |
90049892 |
missense |
probably damaging |
1.00 |
|
R4510:Anks1b
|
UTSW |
10 |
90510790 |
missense |
probably benign |
0.01 |
|
R4511:Anks1b
|
UTSW |
10 |
90510790 |
missense |
probably benign |
0.01 |
|
R4780:Anks1b
|
UTSW |
10 |
89873732 |
missense |
probably damaging |
1.00 |
|
R4785:Anks1b
|
UTSW |
10 |
90914750 |
missense |
probably null |
0.88 |
|
R4790:Anks1b
|
UTSW |
10 |
90163275 |
missense |
probably damaging |
0.99 |
|
R5012:Anks1b
|
UTSW |
10 |
90359137 |
missense |
probably benign |
0.06 |
|
R5400:Anks1b
|
UTSW |
10 |
90512824 |
missense |
probably damaging |
1.00 |
|
R5586:Anks1b
|
UTSW |
10 |
90077064 |
missense |
probably damaging |
0.98 |
|
R5687:Anks1b
|
UTSW |
10 |
90914711 |
missense |
probably benign |
0.03 |
|
R5899:Anks1b
|
UTSW |
10 |
90923517 |
splice site |
probably null |
|
|
R5917:Anks1b
|
UTSW |
10 |
90576941 |
intron |
probably benign |
|
|
R5999:Anks1b
|
UTSW |
10 |
90359048 |
missense |
probably damaging |
1.00 |
|
R6080:Anks1b
|
UTSW |
10 |
90966349 |
nonsense |
probably null |
|
|
R6216:Anks1b
|
UTSW |
10 |
90260756 |
missense |
probably damaging |
1.00 |
|
R6265:Anks1b
|
UTSW |
10 |
90941500 |
missense |
probably damaging |
1.00 |
|
R6298:Anks1b
|
UTSW |
10 |
90680837 |
missense |
probably damaging |
1.00 |
|
R6337:Anks1b
|
UTSW |
10 |
90921296 |
missense |
probably benign |
0.27 |
|
R6522:Anks1b
|
UTSW |
10 |
90897327 |
intron |
probably benign |
|
|
R6843:Anks1b
|
UTSW |
10 |
90948598 |
missense |
probably damaging |
1.00 |
|
R6852:Anks1b
|
UTSW |
10 |
90260654 |
missense |
probably damaging |
1.00 |
|
R6933:Anks1b
|
UTSW |
10 |
90069490 |
missense |
probably damaging |
1.00 |
|
R7114:Anks1b
|
UTSW |
10 |
90307698 |
missense |
probably damaging |
1.00 |
|
R7211:Anks1b
|
UTSW |
10 |
90511070 |
missense |
possibly damaging |
0.94 |
|
R7241:Anks1b
|
UTSW |
10 |
90512837 |
missense |
probably damaging |
1.00 |
|
R7264:Anks1b
|
UTSW |
10 |
90512870 |
missense |
probably benign |
0.08 |
|
R7325:Anks1b
|
UTSW |
10 |
90941432 |
missense |
probably damaging |
1.00 |
|
R7392:Anks1b
|
UTSW |
10 |
90680786 |
missense |
possibly damaging |
0.47 |
|
R7578:Anks1b
|
UTSW |
10 |
90049927 |
missense |
probably damaging |
1.00 |
|
R7604:Anks1b
|
UTSW |
10 |
90260846 |
splice site |
probably null |
|
|
R7633:Anks1b
|
UTSW |
10 |
90948584 |
missense |
probably damaging |
1.00 |
|
R7881:Anks1b
|
UTSW |
10 |
90967018 |
missense |
probably benign |
0.07 |
|
R7910:Anks1b
|
UTSW |
10 |
90680792 |
missense |
probably damaging |
1.00 |
|
R8045:Anks1b
|
UTSW |
10 |
90680860 |
missense |
probably benign |
|
|
R8146:Anks1b
|
UTSW |
10 |
90307698 |
missense |
probably damaging |
1.00 |
|
R8176:Anks1b
|
UTSW |
10 |
90069491 |
missense |
probably damaging |
1.00 |
|
R8535:Anks1b
|
UTSW |
10 |
90948631 |
missense |
probably benign |
0.00 |
|
R8681:Anks1b
|
UTSW |
10 |
90050006 |
missense |
probably damaging |
0.99 |
|
R9300:Anks1b
|
UTSW |
10 |
90577104 |
missense |
possibly damaging |
0.93 |
|
R9469:Anks1b
|
UTSW |
10 |
90897343 |
missense |
possibly damaging |
0.58 |
|
R9541:Anks1b
|
UTSW |
10 |
90577085 |
missense |
probably benign |
0.02 |
|
R9550:Anks1b
|
UTSW |
10 |
90576498 |
start codon destroyed |
probably null |
|
|
RF004:Anks1b
|
UTSW |
10 |
90033225 |
missense |
probably damaging |
1.00 |
|
RF008:Anks1b
|
UTSW |
10 |
90033225 |
missense |
probably damaging |
1.00 |
|
RF017:Anks1b
|
UTSW |
10 |
90033225 |
missense |
probably damaging |
1.00 |
|
RF018:Anks1b
|
UTSW |
10 |
90033225 |
missense |
probably damaging |
1.00 |
|
RF023:Anks1b
|
UTSW |
10 |
90033225 |
missense |
probably damaging |
1.00 |
|
X0064:Anks1b
|
UTSW |
10 |
90512845 |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCGGGCTCCTTTGATAACAAC -3'
(R):5'- ACACAACAAGTTCTGTCCTAAAGG -3'
Sequencing Primer
(F):5'- AACTTCCCCAGGAGCATGATGTG -3'
(R):5'- AAGTTCTGTCCTAAAGGCATCCCG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation