Incidental Mutation 'IGL03076:Ankmy2'
| ID |
417676 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ankmy2
|
| Ensembl Gene |
ENSMUSG00000036188 |
| Gene Name |
ankyrin repeat and MYND domain containing 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.709)
|
| Stock # |
IGL03076
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
36207123-36247290 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36215917 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 39
(V39A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039484
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041640]
|
| AlphaFold |
Q3TPE9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041640
AA Change: V39A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000039484
Gene: ENSMUSG00000036188
AA Change: V39A
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
45 |
74 |
1.1e-6 |
SMART |
|
ANK
|
79 |
108 |
7.83e-3 |
SMART |
|
ANK
|
112 |
143 |
9.33e2 |
SMART |
|
Pfam:zf-MYND
|
320 |
357 |
6.6e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220580
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220788
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(3) : Gene trapped(3) |
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcl2 |
A |
G |
1: 106,471,037 (GRCm39) |
V223A |
probably benign |
Het |
| Bsn |
T |
A |
9: 107,982,581 (GRCm39) |
Y3724F |
unknown |
Het |
| Chd8 |
T |
C |
14: 52,463,619 (GRCm39) |
|
probably benign |
Het |
| Cyp2a5 |
T |
C |
7: 26,535,299 (GRCm39) |
V87A |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,807,226 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
C |
T |
12: 110,624,327 (GRCm39) |
R3652W |
probably damaging |
Het |
| Epha5 |
T |
A |
5: 84,479,549 (GRCm39) |
T152S |
probably damaging |
Het |
| Flnb |
T |
G |
14: 7,901,988 (GRCm38) |
N950K |
probably benign |
Het |
| Fmn1 |
A |
G |
2: 113,414,437 (GRCm39) |
D1128G |
probably damaging |
Het |
| Fndc3a |
T |
A |
14: 72,793,908 (GRCm39) |
T922S |
possibly damaging |
Het |
| Fsip2 |
A |
T |
2: 82,812,482 (GRCm39) |
N2934Y |
possibly damaging |
Het |
| Gnptab |
T |
C |
10: 88,276,151 (GRCm39) |
V1146A |
possibly damaging |
Het |
| Gsg1l |
A |
G |
7: 125,522,665 (GRCm39) |
F188L |
probably benign |
Het |
| Kmt2c |
C |
A |
5: 25,504,149 (GRCm39) |
E309* |
probably null |
Het |
| Krt71 |
C |
T |
15: 101,643,032 (GRCm39) |
R492H |
probably benign |
Het |
| Lama1 |
T |
A |
17: 68,023,794 (GRCm39) |
V63E |
possibly damaging |
Het |
| Lrch3 |
T |
C |
16: 32,802,223 (GRCm39) |
V58A |
possibly damaging |
Het |
| Lrrc8b |
T |
A |
5: 105,629,415 (GRCm39) |
L587Q |
probably damaging |
Het |
| Lrrtm1 |
T |
C |
6: 77,221,568 (GRCm39) |
C342R |
probably damaging |
Het |
| Mdm1 |
T |
C |
10: 117,995,588 (GRCm39) |
S541P |
possibly damaging |
Het |
| Mdn1 |
T |
A |
4: 32,735,564 (GRCm39) |
V3410D |
probably damaging |
Het |
| Neb |
G |
A |
2: 52,059,100 (GRCm39) |
H213Y |
probably damaging |
Het |
| Or52p2 |
A |
T |
7: 102,237,679 (GRCm39) |
N90K |
probably benign |
Het |
| Or7e175 |
T |
C |
9: 20,049,023 (GRCm39) |
S204P |
probably benign |
Het |
| Pigt |
A |
G |
2: 164,339,585 (GRCm39) |
E36G |
probably damaging |
Het |
| Plxnb1 |
T |
A |
9: 108,935,970 (GRCm39) |
V1120D |
probably damaging |
Het |
| Rapgef6 |
T |
C |
11: 54,516,793 (GRCm39) |
L350P |
probably damaging |
Het |
| Rasgef1c |
C |
A |
11: 49,861,073 (GRCm39) |
T302K |
probably damaging |
Het |
| Riox2 |
C |
A |
16: 59,311,575 (GRCm39) |
A386D |
possibly damaging |
Het |
| Semp2l1 |
A |
G |
1: 32,584,626 (GRCm39) |
I428T |
probably damaging |
Het |
| Slc12a2 |
T |
C |
18: 58,059,469 (GRCm39) |
|
probably benign |
Het |
| Trim24 |
T |
A |
6: 37,942,567 (GRCm39) |
S992R |
probably damaging |
Het |
| Trpc3 |
T |
C |
3: 36,694,804 (GRCm39) |
N717D |
probably damaging |
Het |
| Vwa5b1 |
T |
C |
4: 138,327,499 (GRCm39) |
D359G |
probably damaging |
Het |
| Wapl |
A |
G |
14: 34,414,046 (GRCm39) |
T303A |
probably benign |
Het |
| Zfp128 |
A |
G |
7: 12,618,636 (GRCm39) |
T45A |
possibly damaging |
Het |
| Zfp280d |
T |
C |
9: 72,219,944 (GRCm39) |
S240P |
probably damaging |
Het |
|
| Other mutations in Ankmy2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01971:Ankmy2
|
APN |
12 |
36,243,792 (GRCm39) |
nonsense |
probably null |
|
|
IGL02588:Ankmy2
|
APN |
12 |
36,226,685 (GRCm39) |
splice site |
probably benign |
|
|
IGL02975:Ankmy2
|
APN |
12 |
36,243,773 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
Concise
|
UTSW |
12 |
36,243,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
7510:Ankmy2
|
UTSW |
12 |
36,207,411 (GRCm39) |
missense |
probably benign |
0.06 |
|
PIT4520001:Ankmy2
|
UTSW |
12 |
36,207,390 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0135:Ankmy2
|
UTSW |
12 |
36,220,434 (GRCm39) |
splice site |
probably benign |
|
|
R0319:Ankmy2
|
UTSW |
12 |
36,215,898 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0347:Ankmy2
|
UTSW |
12 |
36,243,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0485:Ankmy2
|
UTSW |
12 |
36,232,389 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0557:Ankmy2
|
UTSW |
12 |
36,237,765 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1304:Ankmy2
|
UTSW |
12 |
36,236,804 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1397:Ankmy2
|
UTSW |
12 |
36,220,440 (GRCm39) |
splice site |
probably benign |
|
|
R1572:Ankmy2
|
UTSW |
12 |
36,236,941 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1674:Ankmy2
|
UTSW |
12 |
36,237,668 (GRCm39) |
missense |
probably benign |
|
|
R1874:Ankmy2
|
UTSW |
12 |
36,215,930 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1887:Ankmy2
|
UTSW |
12 |
36,220,467 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1985:Ankmy2
|
UTSW |
12 |
36,207,363 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1996:Ankmy2
|
UTSW |
12 |
36,243,796 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4964:Ankmy2
|
UTSW |
12 |
36,236,917 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5534:Ankmy2
|
UTSW |
12 |
36,232,491 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5606:Ankmy2
|
UTSW |
12 |
36,215,920 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5614:Ankmy2
|
UTSW |
12 |
36,243,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5906:Ankmy2
|
UTSW |
12 |
36,226,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6427:Ankmy2
|
UTSW |
12 |
36,237,710 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7065:Ankmy2
|
UTSW |
12 |
36,237,707 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7135:Ankmy2
|
UTSW |
12 |
36,246,311 (GRCm39) |
missense |
probably benign |
|
|
R7705:Ankmy2
|
UTSW |
12 |
36,245,107 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7721:Ankmy2
|
UTSW |
12 |
36,207,143 (GRCm39) |
unclassified |
probably benign |
|
|
R8492:Ankmy2
|
UTSW |
12 |
36,226,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9100:Ankmy2
|
UTSW |
12 |
36,236,806 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Ankmy2
|
UTSW |
12 |
36,236,858 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2016-08-02 |
Incidental Mutation