Incidental Mutation 'R8683:Ankmy1'
| ID |
661852 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankmy1
|
| Ensembl Gene |
ENSMUSG00000034212 |
| Gene Name |
ankyrin repeat and MYND domain containing 1 |
| Synonyms |
4930483I10Rik |
| MMRRC Submission |
068538-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R8683 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
92787525-92830628 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 92812972 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Methionine
at position 446
(L446M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123787
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112998]
[ENSMUST00000160548]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112998
AA Change: L446M
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108622
Gene: ENSMUSG00000034212
AA Change: L446M
| 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 |
possibly damaging
Transcript: ENSMUST00000160548
AA Change: L446M
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000123787
Gene: ENSMUSG00000034212
AA Change: L446M
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
A |
G |
8: 111,768,881 (GRCm39) |
D227G |
possibly damaging |
Het |
| Actl11 |
T |
A |
9: 107,806,065 (GRCm39) |
D129E |
probably benign |
Het |
| Adam12 |
T |
A |
7: 133,491,929 (GRCm39) |
E877D |
possibly damaging |
Het |
| Adarb2 |
T |
A |
13: 8,807,395 (GRCm39) |
V732E |
probably damaging |
Het |
| Adcy1 |
T |
C |
11: 7,111,328 (GRCm39) |
I873T |
probably damaging |
Het |
| Adgrg1 |
C |
T |
8: 95,736,276 (GRCm39) |
H477Y |
probably damaging |
Het |
| Ahctf1 |
T |
C |
1: 179,623,321 (GRCm39) |
E99G |
possibly damaging |
Het |
| Ankk1 |
T |
A |
9: 49,329,292 (GRCm39) |
M93L |
|
Het |
| Anxa10 |
T |
A |
8: 62,510,825 (GRCm39) |
Y309F |
probably damaging |
Het |
| Arg2 |
C |
T |
12: 79,196,794 (GRCm39) |
Q172* |
probably null |
Het |
| Atp6v0a4 |
T |
A |
6: 38,025,926 (GRCm39) |
*834L |
probably null |
Het |
| Avl9 |
T |
A |
6: 56,730,378 (GRCm39) |
S574T |
probably benign |
Het |
| AW551984 |
G |
A |
9: 39,511,005 (GRCm39) |
T194I |
possibly damaging |
Het |
| Azin1 |
G |
A |
15: 38,493,775 (GRCm39) |
L283F |
probably damaging |
Het |
| Birc6 |
G |
A |
17: 74,916,114 (GRCm39) |
A1677T |
possibly damaging |
Het |
| Carm1 |
A |
T |
9: 21,497,464 (GRCm39) |
D342V |
possibly damaging |
Het |
| Ccr4 |
T |
C |
9: 114,321,216 (GRCm39) |
D283G |
probably damaging |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Cntn2 |
A |
T |
1: 132,450,731 (GRCm39) |
L548Q |
probably damaging |
Het |
| Copg1 |
A |
G |
6: 87,869,637 (GRCm39) |
D172G |
probably damaging |
Het |
| Cyp2j12 |
T |
A |
4: 96,009,805 (GRCm39) |
N185Y |
probably benign |
Het |
| Dapk3 |
T |
C |
10: 81,026,069 (GRCm39) |
L120P |
probably damaging |
Het |
| Dclre1b |
A |
C |
3: 103,711,298 (GRCm39) |
S204R |
probably damaging |
Het |
| Dennd2a |
G |
A |
6: 39,500,137 (GRCm39) |
R143* |
probably null |
Het |
| Dnah5 |
A |
T |
15: 28,289,367 (GRCm39) |
E1185D |
probably benign |
Het |
| Dop1b |
C |
T |
16: 93,568,699 (GRCm39) |
T1587I |
probably damaging |
Het |
| Dop1b |
A |
G |
16: 93,570,809 (GRCm39) |
T1603A |
probably benign |
Het |
| Dym |
T |
A |
18: 75,363,089 (GRCm39) |
V531E |
probably damaging |
Het |
| Dync2i1 |
G |
T |
12: 116,193,262 (GRCm39) |
D563E |
probably benign |
Het |
| Ecpas |
T |
C |
4: 58,834,515 (GRCm39) |
S788G |
probably benign |
Het |
| Eif2b4 |
A |
T |
5: 31,345,274 (GRCm39) |
F453L |
probably damaging |
Het |
| Entpd8 |
G |
A |
2: 24,974,992 (GRCm39) |
G441D |
probably damaging |
Het |
| Galnt6 |
A |
T |
15: 100,592,603 (GRCm39) |
Y535N |
probably damaging |
Het |
| Garin2 |
TGATGTCACAGATGTCAC |
TGATGTCAC |
12: 78,762,057 (GRCm39) |
|
probably benign |
Het |
| Gm10340 |
T |
A |
14: 14,826,748 (GRCm39) |
D72E |
possibly damaging |
Het |
| Gm13102 |
T |
A |
4: 143,835,680 (GRCm39) |
D449E |
probably damaging |
Het |
| Hdac9 |
T |
A |
12: 34,440,220 (GRCm39) |
K386N |
probably damaging |
Het |
| Hgs |
T |
A |
11: 120,366,044 (GRCm39) |
C212* |
probably null |
Het |
| Hoxa2 |
C |
A |
6: 52,141,540 (GRCm39) |
A29S |
possibly damaging |
Het |
| Ifnar1 |
T |
A |
16: 91,296,332 (GRCm39) |
W278R |
probably damaging |
Het |
| Irf7 |
C |
T |
7: 140,843,422 (GRCm39) |
G389R |
probably null |
Het |
| Lipo3 |
G |
A |
19: 33,759,604 (GRCm39) |
L211F |
probably benign |
Het |
| Mars2 |
C |
T |
1: 55,277,741 (GRCm39) |
T448I |
probably benign |
Het |
| Mcm4 |
C |
A |
16: 15,453,138 (GRCm39) |
G184C |
probably damaging |
Het |
| Mmaa |
C |
T |
8: 79,994,598 (GRCm39) |
A403T |
probably damaging |
Het |
| Mmel1 |
A |
G |
4: 154,973,985 (GRCm39) |
I342V |
probably benign |
Het |
| Myb |
T |
C |
10: 21,026,405 (GRCm39) |
T188A |
possibly damaging |
Het |
| Myo1g |
C |
T |
11: 6,467,569 (GRCm39) |
|
probably null |
Het |
| Npas2 |
A |
G |
1: 39,386,708 (GRCm39) |
Q659R |
probably benign |
Het |
| Npr1 |
A |
G |
3: 90,362,497 (GRCm39) |
V941A |
probably benign |
Het |
| Numa1 |
T |
G |
7: 101,626,617 (GRCm39) |
M1R |
probably null |
Het |
| Obscn |
T |
C |
11: 58,967,705 (GRCm39) |
S2700G |
probably benign |
Het |
| Or2t35 |
T |
A |
14: 14,407,480 (GRCm38) |
L84H |
probably benign |
Het |
| Or4k2 |
A |
T |
14: 50,424,203 (GRCm39) |
M157K |
possibly damaging |
Het |
| Or5g25 |
A |
T |
2: 85,478,410 (GRCm39) |
I85N |
probably benign |
Het |
| Pdpr |
T |
A |
8: 111,850,492 (GRCm39) |
H476Q |
probably damaging |
Het |
| Pkd1l1 |
A |
T |
11: 8,821,805 (GRCm39) |
S1630T |
|
Het |
| Prdm16 |
A |
G |
4: 154,613,161 (GRCm39) |
S89P |
probably damaging |
Het |
| Ptgdr2 |
T |
A |
19: 10,917,893 (GRCm39) |
W137R |
possibly damaging |
Het |
| Ptpra |
A |
G |
2: 130,394,187 (GRCm39) |
I784V |
possibly damaging |
Het |
| Rabepk |
G |
T |
2: 34,685,188 (GRCm39) |
D77E |
possibly damaging |
Het |
| Sh2b1 |
GGGGACCAGCTCAGCCACGGGGACCAGCTC |
GGGGACCAGCTCAGCCACAGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,743 (GRCm39) |
|
probably benign |
Het |
| Smc3 |
T |
A |
19: 53,629,616 (GRCm39) |
S994T |
possibly damaging |
Het |
| Sparc |
A |
G |
11: 55,292,783 (GRCm39) |
C147R |
probably damaging |
Het |
| Supt6 |
A |
T |
11: 78,108,727 (GRCm39) |
D1191E |
probably benign |
Het |
| Susd4 |
T |
C |
1: 182,719,832 (GRCm39) |
|
probably null |
Het |
| Tbc1d5 |
A |
G |
17: 51,291,631 (GRCm39) |
|
probably null |
Het |
| Tecta |
T |
G |
9: 42,278,268 (GRCm39) |
D1080A |
probably damaging |
Het |
| Tenm4 |
G |
T |
7: 96,552,064 (GRCm39) |
W2538L |
probably damaging |
Het |
| Trappc9 |
A |
G |
15: 72,884,664 (GRCm39) |
F439L |
probably benign |
Het |
| Tsbp1 |
A |
T |
17: 34,667,782 (GRCm39) |
Q158L |
possibly damaging |
Het |
| Vegfa |
A |
T |
17: 46,342,396 (GRCm39) |
S141T |
probably benign |
Het |
| Vmn2r9 |
T |
A |
5: 108,996,873 (GRCm39) |
D132V |
probably benign |
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 |
|
R1590:Ankmy1
|
UTSW |
1 |
92,816,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- GTGCTAGCGTCCACATTTTC -3'
(R):5'- GGGGCAGTGACTTCAGAATTG -3'
Sequencing Primer
(F):5'- CAGTCTTCACTGGGGAGACTTC -3'
(R):5'- GCAGTGACTTCAGAATTGTCCCTG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation