Incidental Mutation 'IGL02644:Ankmy1'
| ID |
301872 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ankmy1
|
| Ensembl Gene |
ENSMUSG00000034212 |
| Gene Name |
ankyrin repeat and MYND domain containing 1 |
| Synonyms |
4930483I10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
IGL02644
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
92787525-92830628 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 92812776 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 511
(D511G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123787
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112998]
[ENSMUST00000160548]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112998
AA Change: D511G
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000108622
Gene: ENSMUSG00000034212
AA Change: D511G
| 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 benign
Transcript: ENSMUST00000160548
AA Change: D511G
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000123787
Gene: ENSMUSG00000034212
AA Change: D511G
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
A |
T |
3: 151,198,007 (GRCm39) |
Y89F |
probably benign |
Het |
| Agl |
A |
G |
3: 116,580,246 (GRCm39) |
Y406H |
probably damaging |
Het |
| Ankhd1 |
G |
A |
18: 36,711,828 (GRCm39) |
|
probably null |
Het |
| Arid2 |
T |
C |
15: 96,266,589 (GRCm39) |
Y546H |
probably damaging |
Het |
| Asap1 |
G |
T |
15: 63,982,911 (GRCm39) |
P806T |
probably damaging |
Het |
| Aspa |
T |
A |
11: 73,212,992 (GRCm39) |
T117S |
probably damaging |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Bspry |
A |
T |
4: 62,414,565 (GRCm39) |
H386L |
probably damaging |
Het |
| C1qc |
T |
C |
4: 136,617,629 (GRCm39) |
T156A |
possibly damaging |
Het |
| Cfhr4 |
A |
G |
1: 139,708,905 (GRCm39) |
M1T |
probably null |
Het |
| Copz2 |
A |
T |
11: 96,744,257 (GRCm39) |
|
probably benign |
Het |
| Cybb |
A |
G |
X: 9,333,395 (GRCm39) |
V23A |
probably benign |
Het |
| D630003M21Rik |
T |
A |
2: 158,058,730 (GRCm39) |
D390V |
possibly damaging |
Het |
| Dennd10 |
T |
A |
19: 60,810,741 (GRCm39) |
S43T |
possibly damaging |
Het |
| Dpy19l2 |
G |
T |
9: 24,569,888 (GRCm39) |
P355Q |
probably damaging |
Het |
| Gcn1 |
A |
T |
5: 115,713,250 (GRCm39) |
Q71L |
probably benign |
Het |
| Gpd1l |
T |
C |
9: 114,732,725 (GRCm39) |
|
probably null |
Het |
| Hydin |
A |
G |
8: 111,265,100 (GRCm39) |
D2761G |
probably damaging |
Het |
| Ifi202b |
T |
A |
1: 173,799,280 (GRCm39) |
H256L |
probably benign |
Het |
| Igkv8-24 |
T |
C |
6: 70,193,872 (GRCm39) |
Y112C |
probably damaging |
Het |
| Lama3 |
G |
A |
18: 12,658,910 (GRCm39) |
R2022Q |
probably benign |
Het |
| Mroh4 |
T |
A |
15: 74,482,224 (GRCm39) |
R675S |
possibly damaging |
Het |
| Mtf1 |
T |
G |
4: 124,714,028 (GRCm39) |
C146G |
probably damaging |
Het |
| Nubpl |
A |
G |
12: 52,317,841 (GRCm39) |
D178G |
probably damaging |
Het |
| Or7e165 |
A |
C |
9: 19,695,010 (GRCm39) |
I194L |
probably benign |
Het |
| Pam16 |
A |
G |
16: 4,434,697 (GRCm39) |
S91P |
probably damaging |
Het |
| Pcdhac2 |
A |
G |
18: 37,278,232 (GRCm39) |
E404G |
probably benign |
Het |
| Pde7a |
C |
A |
3: 19,311,031 (GRCm39) |
|
probably benign |
Het |
| Perm1 |
G |
T |
4: 156,303,043 (GRCm39) |
G529V |
probably damaging |
Het |
| Pik3c2a |
T |
C |
7: 115,972,049 (GRCm39) |
T794A |
probably benign |
Het |
| Ppfibp1 |
A |
G |
6: 146,923,938 (GRCm39) |
Y722C |
probably damaging |
Het |
| Ppm1m |
A |
T |
9: 106,074,082 (GRCm39) |
I241N |
probably damaging |
Het |
| Psd |
T |
C |
19: 46,311,834 (GRCm39) |
Y282C |
probably damaging |
Het |
| Rpl27 |
T |
A |
11: 101,336,317 (GRCm39) |
|
probably benign |
Het |
| Scaf1 |
A |
G |
7: 44,655,357 (GRCm39) |
|
probably benign |
Het |
| Sec14l2 |
A |
T |
11: 4,053,380 (GRCm39) |
|
probably benign |
Het |
| Smchd1 |
T |
A |
17: 71,667,016 (GRCm39) |
|
probably benign |
Het |
| Sptb |
A |
T |
12: 76,652,391 (GRCm39) |
D1615E |
probably damaging |
Het |
| Stt3a |
A |
C |
9: 36,663,649 (GRCm39) |
C198G |
possibly damaging |
Het |
| Tas2r144 |
T |
C |
6: 42,192,787 (GRCm39) |
S176P |
possibly damaging |
Het |
| Tlr13 |
A |
G |
X: 105,200,503 (GRCm39) |
D80G |
probably benign |
Het |
| Tmco4 |
A |
G |
4: 138,737,920 (GRCm39) |
|
probably benign |
Het |
| Tnpo2 |
T |
A |
8: 85,771,109 (GRCm39) |
C132S |
possibly damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,698,733 (GRCm39) |
D406G |
probably damaging |
Het |
| Vmn2r125 |
G |
A |
4: 156,703,294 (GRCm39) |
R224Q |
probably benign |
Het |
| Zfp524 |
C |
A |
7: 5,020,479 (GRCm39) |
D2E |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation