Incidental Mutation 'IGL01480:Ankrd10'
| ID |
88583 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ankrd10
|
| Ensembl Gene |
ENSMUSG00000031508 |
| Gene Name |
ankyrin repeat domain 10 |
| Synonyms |
4833425P12Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
IGL01480
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
11661583-11685757 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 11685592 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 9
(V9A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147295
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033905]
[ENSMUST00000169782]
[ENSMUST00000209915]
[ENSMUST00000210530]
[ENSMUST00000210876]
[ENSMUST00000211174]
|
| AlphaFold |
Q99LW0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033905
AA Change: V9A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000033905
Gene: ENSMUSG00000031508
AA Change: V9A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
20 |
49 |
2e-10 |
BLAST |
|
ANK
|
56 |
85 |
2.66e-5 |
SMART |
|
ANK
|
90 |
119 |
6.46e-4 |
SMART |
|
ANK
|
123 |
152 |
1.03e-2 |
SMART |
|
Blast:ANK
|
156 |
185 |
6e-6 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169782
AA Change: V9A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000131657
Gene: ENSMUSG00000031508
AA Change: V9A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
20 |
49 |
1e-10 |
BLAST |
|
ANK
|
56 |
85 |
2.66e-5 |
SMART |
|
ANK
|
90 |
119 |
6.46e-4 |
SMART |
|
ANK
|
123 |
152 |
1.03e-2 |
SMART |
|
Blast:ANK
|
156 |
185 |
4e-6 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198377
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209605
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209915
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210530
AA Change: V9A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210876
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211174
AA Change: V9A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211389
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211445
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck1 |
T |
A |
12: 88,423,635 (GRCm39) |
C379* |
probably null |
Het |
| Ankrd13a |
A |
T |
5: 114,938,879 (GRCm39) |
|
probably benign |
Het |
| Bbs1 |
T |
C |
19: 4,944,421 (GRCm39) |
K403E |
probably damaging |
Het |
| Ccn3 |
A |
G |
15: 54,615,687 (GRCm39) |
Y284C |
probably damaging |
Het |
| Cd200r2 |
A |
G |
16: 44,729,629 (GRCm39) |
I95V |
probably null |
Het |
| Cyba |
T |
C |
8: 123,151,684 (GRCm39) |
E171G |
probably benign |
Het |
| Dnah2 |
T |
A |
11: 69,349,197 (GRCm39) |
M2480L |
possibly damaging |
Het |
| Fxyd7 |
A |
T |
7: 30,746,799 (GRCm39) |
Y20* |
probably null |
Het |
| Il22ra1 |
T |
C |
4: 135,472,112 (GRCm39) |
V216A |
probably benign |
Het |
| Mapk10 |
G |
A |
5: 103,074,018 (GRCm39) |
|
probably benign |
Het |
| Mgat5b |
C |
A |
11: 116,869,278 (GRCm39) |
T607K |
probably benign |
Het |
| Optn |
G |
A |
2: 5,050,829 (GRCm39) |
S184L |
probably benign |
Het |
| Or10d5 |
G |
A |
9: 39,861,284 (GRCm39) |
A261V |
probably benign |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Or1p1c |
A |
T |
11: 74,160,427 (GRCm39) |
I71L |
possibly damaging |
Het |
| Or7a42 |
T |
C |
10: 78,791,978 (GRCm39) |
|
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,321,078 (GRCm39) |
L462P |
possibly damaging |
Het |
| Prkca |
C |
T |
11: 108,083,027 (GRCm39) |
V73M |
probably damaging |
Het |
| Prkca |
A |
G |
11: 107,877,115 (GRCm39) |
F339L |
possibly damaging |
Het |
| Ptch2 |
T |
C |
4: 116,971,279 (GRCm39) |
V1062A |
probably damaging |
Het |
| Serpina11 |
T |
A |
12: 103,949,110 (GRCm39) |
K354* |
probably null |
Het |
| Sf1 |
T |
C |
19: 6,422,052 (GRCm39) |
|
probably benign |
Het |
| Stam2 |
A |
G |
2: 52,606,451 (GRCm39) |
S112P |
probably benign |
Het |
| Tlr5 |
G |
A |
1: 182,801,064 (GRCm39) |
E123K |
probably benign |
Het |
| Tpp1 |
T |
C |
7: 105,398,260 (GRCm39) |
E301G |
probably damaging |
Het |
| Vmn2r58 |
T |
A |
7: 41,514,116 (GRCm39) |
I176F |
probably benign |
Het |
|
| Other mutations in Ankrd10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03029:Ankrd10
|
APN |
8 |
11,669,304 (GRCm39) |
splice site |
probably null |
|
|
R0098:Ankrd10
|
UTSW |
8 |
11,662,560 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0393:Ankrd10
|
UTSW |
8 |
11,685,482 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R2870:Ankrd10
|
UTSW |
8 |
11,665,682 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2870:Ankrd10
|
UTSW |
8 |
11,665,682 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4176:Ankrd10
|
UTSW |
8 |
11,662,644 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5985:Ankrd10
|
UTSW |
8 |
11,669,077 (GRCm39) |
nonsense |
probably null |
|
|
R6999:Ankrd10
|
UTSW |
8 |
11,669,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7108:Ankrd10
|
UTSW |
8 |
11,662,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7322:Ankrd10
|
UTSW |
8 |
11,665,841 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7522:Ankrd10
|
UTSW |
8 |
11,682,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7559:Ankrd10
|
UTSW |
8 |
11,662,548 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7629:Ankrd10
|
UTSW |
8 |
11,665,769 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8263:Ankrd10
|
UTSW |
8 |
11,665,707 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8493:Ankrd10
|
UTSW |
8 |
11,678,518 (GRCm39) |
nonsense |
probably null |
|
|
R8713:Ankrd10
|
UTSW |
8 |
11,678,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8897:Ankrd10
|
UTSW |
8 |
11,665,788 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
| Posted On |
2013-11-18 |
Incidental Mutation