Incidental Mutation 'R1590:Ankmy1'
| ID |
177778 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankmy1
|
| Ensembl Gene |
ENSMUSG00000034212 |
| Gene Name |
ankyrin repeat and MYND domain containing 1 |
| Synonyms |
4930483I10Rik |
| MMRRC Submission |
039627-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R1590 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
92787525-92830628 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 92816397 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 239
(Y239C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123787
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112998]
[ENSMUST00000160548]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112998
AA Change: Y239C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108622
Gene: ENSMUSG00000034212
AA Change: Y239C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
68 |
N/A |
INTRINSIC |
|
MORN
|
87 |
108 |
4.22e0 |
SMART |
|
MORN
|
110 |
131 |
7.05e-5 |
SMART |
|
MORN
|
155 |
176 |
7.15e1 |
SMART |
|
ANK
|
378 |
407 |
4.32e-5 |
SMART |
|
Blast:ANK
|
575 |
604 |
2e-10 |
BLAST |
|
ANK
|
607 |
636 |
2.63e2 |
SMART |
|
ANK
|
643 |
675 |
1.87e2 |
SMART |
|
ANK
|
719 |
753 |
1.73e-4 |
SMART |
|
ANK
|
756 |
785 |
6.92e-4 |
SMART |
|
Blast:ANK
|
790 |
828 |
1e-12 |
BLAST |
|
low complexity region
|
876 |
889 |
N/A |
INTRINSIC |
|
Pfam:zf-MYND
|
940 |
980 |
1.8e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160548
AA Change: Y239C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123787
Gene: ENSMUSG00000034212
AA Change: Y239C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
68 |
N/A |
INTRINSIC |
|
MORN
|
87 |
108 |
4.22e0 |
SMART |
|
MORN
|
110 |
131 |
7.05e-5 |
SMART |
|
MORN
|
155 |
176 |
7.15e1 |
SMART |
|
ANK
|
378 |
407 |
4.32e-5 |
SMART |
|
Blast:ANK
|
575 |
604 |
2e-10 |
BLAST |
|
ANK
|
607 |
636 |
2.63e2 |
SMART |
|
ANK
|
643 |
675 |
1.87e2 |
SMART |
|
ANK
|
719 |
753 |
1.73e-4 |
SMART |
|
ANK
|
756 |
785 |
6.92e-4 |
SMART |
|
Blast:ANK
|
790 |
828 |
1e-12 |
BLAST |
|
low complexity region
|
876 |
889 |
N/A |
INTRINSIC |
|
Pfam:zf-MYND
|
941 |
981 |
2.3e-8 |
PFAM |
|
| Meta Mutation Damage Score |
0.5459 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.4%
|
| Validation Efficiency |
97% (69/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamp |
A |
G |
1: 74,322,370 (GRCm39) |
S95P |
probably damaging |
Het |
| Atp12a |
T |
C |
14: 56,617,512 (GRCm39) |
S601P |
probably damaging |
Het |
| Atp1b3 |
T |
C |
9: 96,225,402 (GRCm39) |
T89A |
probably benign |
Het |
| B3galt4 |
G |
A |
17: 34,169,813 (GRCm39) |
R142C |
probably damaging |
Het |
| Brme1 |
A |
T |
8: 84,893,715 (GRCm39) |
Q294L |
probably benign |
Het |
| Btnl2 |
A |
T |
17: 34,580,114 (GRCm39) |
I216F |
possibly damaging |
Het |
| Cabs1 |
A |
T |
5: 88,127,490 (GRCm39) |
H47L |
probably damaging |
Het |
| Ccdc68 |
T |
A |
18: 70,073,251 (GRCm39) |
D66E |
probably benign |
Het |
| Cdc42ep4 |
T |
C |
11: 113,619,392 (GRCm39) |
D333G |
possibly damaging |
Het |
| Ckmt1 |
G |
A |
2: 121,194,003 (GRCm39) |
D389N |
possibly damaging |
Het |
| Dact1 |
G |
T |
12: 71,364,349 (GRCm39) |
V340F |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,412,024 (GRCm39) |
T246A |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,313,580 (GRCm39) |
|
probably null |
Het |
| Ecm1 |
G |
A |
3: 95,643,275 (GRCm39) |
R342C |
probably damaging |
Het |
| Efcab14 |
A |
G |
4: 115,613,746 (GRCm39) |
|
probably benign |
Het |
| Eprs1 |
A |
G |
1: 185,133,707 (GRCm39) |
T795A |
probably damaging |
Het |
| Esp36 |
T |
A |
17: 38,728,202 (GRCm39) |
E26D |
possibly damaging |
Het |
| Fpr-rs7 |
T |
C |
17: 20,333,678 (GRCm39) |
T271A |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,813,131 (GRCm39) |
H3150L |
probably benign |
Het |
| Gimap7 |
G |
A |
6: 48,700,953 (GRCm39) |
V180M |
probably damaging |
Het |
| Gtf3c1 |
T |
C |
7: 125,275,833 (GRCm39) |
H531R |
possibly damaging |
Het |
| Herc1 |
T |
A |
9: 66,399,235 (GRCm39) |
|
probably benign |
Het |
| Hip1r |
A |
G |
5: 124,140,203 (GRCm39) |
Y1061C |
probably benign |
Het |
| Ipo11 |
T |
C |
13: 107,023,225 (GRCm39) |
Y420C |
probably damaging |
Het |
| Ipo8 |
T |
C |
6: 148,712,163 (GRCm39) |
|
probably null |
Het |
| Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
| Klhl1 |
A |
T |
14: 96,606,072 (GRCm39) |
M243K |
probably damaging |
Het |
| Lrp2 |
A |
G |
2: 69,297,107 (GRCm39) |
|
probably null |
Het |
| Mag |
T |
C |
7: 30,601,277 (GRCm39) |
E439G |
probably damaging |
Het |
| Mcm3ap |
T |
A |
10: 76,332,375 (GRCm39) |
F1231I |
probably benign |
Het |
| Mcmdc2 |
C |
T |
1: 9,986,780 (GRCm39) |
Q204* |
probably null |
Het |
| Mpl |
A |
C |
4: 118,301,221 (GRCm39) |
L548R |
probably damaging |
Het |
| Mrps2 |
C |
T |
2: 28,359,500 (GRCm39) |
A119V |
probably benign |
Het |
| Myo18b |
G |
A |
5: 113,023,132 (GRCm39) |
Q87* |
probably null |
Het |
| Nfat5 |
A |
G |
8: 108,020,522 (GRCm39) |
Y22C |
probably damaging |
Het |
| Nnt |
T |
A |
13: 119,523,197 (GRCm39) |
I232L |
possibly damaging |
Het |
| Or2a52 |
A |
G |
6: 43,144,846 (GRCm39) |
N285D |
probably damaging |
Het |
| Or8g17 |
T |
C |
9: 38,930,253 (GRCm39) |
N195D |
probably benign |
Het |
| Or9s13 |
G |
A |
1: 92,548,467 (GRCm39) |
V280M |
possibly damaging |
Het |
| Parp2 |
C |
T |
14: 51,048,001 (GRCm39) |
P76S |
probably benign |
Het |
| Pick1 |
C |
T |
15: 79,129,501 (GRCm39) |
H169Y |
probably benign |
Het |
| Prtg |
T |
A |
9: 72,750,089 (GRCm39) |
F164L |
probably benign |
Het |
| Pygb |
A |
G |
2: 150,659,583 (GRCm39) |
D422G |
possibly damaging |
Het |
| Samd9l |
C |
A |
6: 3,375,761 (GRCm39) |
C500F |
probably benign |
Het |
| Sbno1 |
A |
C |
5: 124,522,567 (GRCm39) |
N1083K |
possibly damaging |
Het |
| Septin7 |
C |
T |
9: 25,188,900 (GRCm39) |
S77F |
probably damaging |
Het |
| Slc25a44 |
A |
G |
3: 88,323,314 (GRCm39) |
V264A |
possibly damaging |
Het |
| Slco1a8 |
C |
T |
6: 141,926,598 (GRCm39) |
S576N |
probably benign |
Het |
| Slf2 |
G |
T |
19: 44,930,512 (GRCm39) |
E530* |
probably null |
Het |
| Svs5 |
A |
G |
2: 164,079,578 (GRCm39) |
S110P |
possibly damaging |
Het |
| Tmbim7 |
G |
T |
5: 3,715,338 (GRCm39) |
|
probably null |
Het |
| Tpgs2 |
T |
C |
18: 25,273,630 (GRCm39) |
D177G |
probably damaging |
Het |
| Uba1y |
T |
A |
Y: 826,893 (GRCm39) |
F516L |
probably damaging |
Het |
| Ulk1 |
A |
G |
5: 110,943,632 (GRCm39) |
V211A |
probably damaging |
Het |
| Vmn1r237 |
T |
A |
17: 21,534,301 (GRCm39) |
I8N |
probably damaging |
Het |
| Vmn2r103 |
G |
T |
17: 20,014,496 (GRCm39) |
M429I |
probably benign |
Het |
| Vmn2r112 |
T |
C |
17: 22,833,989 (GRCm39) |
|
probably null |
Het |
| Vmn2r84 |
T |
C |
10: 130,227,349 (GRCm39) |
|
probably null |
Het |
| Vwa8 |
C |
T |
14: 79,145,670 (GRCm39) |
R116C |
probably damaging |
Het |
|
| Other mutations in Ankmy1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00496:Ankmy1
|
APN |
1 |
92,813,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01061:Ankmy1
|
APN |
1 |
92,798,696 (GRCm39) |
splice site |
probably benign |
|
|
IGL01960:Ankmy1
|
APN |
1 |
92,799,385 (GRCm39) |
splice site |
probably benign |
|
|
IGL01984:Ankmy1
|
APN |
1 |
92,811,487 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02193:Ankmy1
|
APN |
1 |
92,808,767 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02536:Ankmy1
|
APN |
1 |
92,813,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02644:Ankmy1
|
APN |
1 |
92,812,776 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02650:Ankmy1
|
APN |
1 |
92,808,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02660:Ankmy1
|
APN |
1 |
92,823,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02808:Ankmy1
|
APN |
1 |
92,814,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
bali
|
UTSW |
1 |
92,799,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
timor
|
UTSW |
1 |
92,814,003 (GRCm39) |
missense |
probably benign |
0.02 |
|
PIT4687001:Ankmy1
|
UTSW |
1 |
92,812,803 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0313:Ankmy1
|
UTSW |
1 |
92,813,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0373:Ankmy1
|
UTSW |
1 |
92,823,912 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0383:Ankmy1
|
UTSW |
1 |
92,812,775 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0499:Ankmy1
|
UTSW |
1 |
92,813,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0562:Ankmy1
|
UTSW |
1 |
92,827,413 (GRCm39) |
splice site |
probably benign |
|
|
R0607:Ankmy1
|
UTSW |
1 |
92,816,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0739:Ankmy1
|
UTSW |
1 |
92,816,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0962:Ankmy1
|
UTSW |
1 |
92,827,290 (GRCm39) |
nonsense |
probably null |
|
|
R1192:Ankmy1
|
UTSW |
1 |
92,811,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1491:Ankmy1
|
UTSW |
1 |
92,814,531 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1568:Ankmy1
|
UTSW |
1 |
92,808,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1585:Ankmy1
|
UTSW |
1 |
92,827,373 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1664:Ankmy1
|
UTSW |
1 |
92,812,913 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1714:Ankmy1
|
UTSW |
1 |
92,812,916 (GRCm39) |
nonsense |
probably null |
|
|
R1818:Ankmy1
|
UTSW |
1 |
92,814,553 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2014:Ankmy1
|
UTSW |
1 |
92,812,863 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2043:Ankmy1
|
UTSW |
1 |
92,804,249 (GRCm39) |
unclassified |
probably benign |
|
|
R2056:Ankmy1
|
UTSW |
1 |
92,809,553 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R2427:Ankmy1
|
UTSW |
1 |
92,798,529 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3806:Ankmy1
|
UTSW |
1 |
92,811,480 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3883:Ankmy1
|
UTSW |
1 |
92,813,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3884:Ankmy1
|
UTSW |
1 |
92,813,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4118:Ankmy1
|
UTSW |
1 |
92,816,418 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4132:Ankmy1
|
UTSW |
1 |
92,812,822 (GRCm39) |
missense |
probably benign |
|
|
R4441:Ankmy1
|
UTSW |
1 |
92,816,383 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4543:Ankmy1
|
UTSW |
1 |
92,812,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4602:Ankmy1
|
UTSW |
1 |
92,816,372 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4779:Ankmy1
|
UTSW |
1 |
92,814,445 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5200:Ankmy1
|
UTSW |
1 |
92,798,014 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5381:Ankmy1
|
UTSW |
1 |
92,804,284 (GRCm39) |
missense |
probably benign |
|
|
R5425:Ankmy1
|
UTSW |
1 |
92,798,679 (GRCm39) |
nonsense |
probably null |
|
|
R5474:Ankmy1
|
UTSW |
1 |
92,812,926 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5534:Ankmy1
|
UTSW |
1 |
92,814,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5607:Ankmy1
|
UTSW |
1 |
92,804,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6112:Ankmy1
|
UTSW |
1 |
92,798,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6117:Ankmy1
|
UTSW |
1 |
92,788,996 (GRCm39) |
unclassified |
probably benign |
|
|
R6376:Ankmy1
|
UTSW |
1 |
92,816,187 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R6712:Ankmy1
|
UTSW |
1 |
92,798,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6915:Ankmy1
|
UTSW |
1 |
92,816,173 (GRCm39) |
missense |
probably null |
1.00 |
|
R7201:Ankmy1
|
UTSW |
1 |
92,814,546 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7432:Ankmy1
|
UTSW |
1 |
92,823,801 (GRCm39) |
missense |
probably benign |
|
|
R7485:Ankmy1
|
UTSW |
1 |
92,804,379 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7795:Ankmy1
|
UTSW |
1 |
92,811,570 (GRCm39) |
missense |
probably benign |
|
|
R7851:Ankmy1
|
UTSW |
1 |
92,799,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8018:Ankmy1
|
UTSW |
1 |
92,814,003 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8024:Ankmy1
|
UTSW |
1 |
92,812,716 (GRCm39) |
missense |
probably benign |
|
|
R8276:Ankmy1
|
UTSW |
1 |
92,814,531 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8350:Ankmy1
|
UTSW |
1 |
92,804,353 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8373:Ankmy1
|
UTSW |
1 |
92,823,816 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8683:Ankmy1
|
UTSW |
1 |
92,812,972 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9597:Ankmy1
|
UTSW |
1 |
92,804,773 (GRCm39) |
missense |
|
|
|
R9681:Ankmy1
|
UTSW |
1 |
92,813,882 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1176:Ankmy1
|
UTSW |
1 |
92,806,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGGTTCTTCGTCCTCAATGAACG -3'
(R):5'- ACCTGGTAGAAAGCCTGACTGAGTG -3'
Sequencing Primer
(F):5'- TCGGTCGAATAGACGTGCAT -3'
(R):5'- ATCGAGACCTACCCTGATGG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation