Incidental Mutation 'IGL01480:Ankrd13a'
ID |
88586 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ankrd13a
|
Ensembl Gene |
ENSMUSG00000041870 |
Gene Name |
ankyrin repeat domain 13a |
Synonyms |
1100001D10Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.132)
|
Stock # |
IGL01480
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
114913009-114943882 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 114938879 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102578]
|
AlphaFold |
Q80UP5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000102578
|
SMART Domains |
Protein: ENSMUSP00000099638 Gene: ENSMUSG00000041870
Domain | Start | End | E-Value | Type |
ANK
|
40 |
69 |
1.51e-4 |
SMART |
ANK
|
73 |
104 |
2.03e-1 |
SMART |
Pfam:GPCR_chapero_1
|
156 |
468 |
5.5e-107 |
PFAM |
UIM
|
480 |
500 |
2.98e2 |
SMART |
UIM
|
517 |
536 |
2.01e1 |
SMART |
UIM
|
547 |
566 |
5.33e1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129001
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131803
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137519
|
SMART Domains |
Protein: ENSMUSP00000116994 Gene: ENSMUSG00000041870
Domain | Start | End | E-Value | Type |
ANK
|
7 |
38 |
2.03e-1 |
SMART |
Pfam:GPCR_chapero_1
|
90 |
403 |
8.2e-108 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140604
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200704
|
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 |
Ankrd10 |
A |
G |
8: 11,685,592 (GRCm39) |
V9A |
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 Ankrd13a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00963:Ankrd13a
|
APN |
5 |
114,939,863 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01303:Ankrd13a
|
APN |
5 |
114,924,063 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01392:Ankrd13a
|
APN |
5 |
114,935,914 (GRCm39) |
missense |
probably benign |
|
IGL01652:Ankrd13a
|
APN |
5 |
114,929,397 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02213:Ankrd13a
|
APN |
5 |
114,924,029 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02512:Ankrd13a
|
APN |
5 |
114,924,827 (GRCm39) |
missense |
probably benign |
0.16 |
IGL03268:Ankrd13a
|
APN |
5 |
114,930,296 (GRCm39) |
missense |
probably damaging |
1.00 |
R0019:Ankrd13a
|
UTSW |
5 |
114,924,142 (GRCm39) |
splice site |
probably benign |
|
R0019:Ankrd13a
|
UTSW |
5 |
114,924,142 (GRCm39) |
splice site |
probably benign |
|
R0465:Ankrd13a
|
UTSW |
5 |
114,942,295 (GRCm39) |
missense |
probably damaging |
0.98 |
R0960:Ankrd13a
|
UTSW |
5 |
114,924,868 (GRCm39) |
missense |
probably benign |
0.03 |
R1222:Ankrd13a
|
UTSW |
5 |
114,938,824 (GRCm39) |
nonsense |
probably null |
|
R1538:Ankrd13a
|
UTSW |
5 |
114,942,295 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1667:Ankrd13a
|
UTSW |
5 |
114,924,794 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1771:Ankrd13a
|
UTSW |
5 |
114,941,649 (GRCm39) |
missense |
probably benign |
0.08 |
R2015:Ankrd13a
|
UTSW |
5 |
114,930,170 (GRCm39) |
missense |
probably damaging |
1.00 |
R4547:Ankrd13a
|
UTSW |
5 |
114,913,357 (GRCm39) |
missense |
probably benign |
0.01 |
R4569:Ankrd13a
|
UTSW |
5 |
114,927,373 (GRCm39) |
missense |
probably damaging |
1.00 |
R5401:Ankrd13a
|
UTSW |
5 |
114,930,234 (GRCm39) |
missense |
probably damaging |
1.00 |
R5635:Ankrd13a
|
UTSW |
5 |
114,939,778 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6238:Ankrd13a
|
UTSW |
5 |
114,924,787 (GRCm39) |
missense |
probably benign |
0.00 |
R6562:Ankrd13a
|
UTSW |
5 |
114,942,453 (GRCm39) |
unclassified |
probably benign |
|
R6623:Ankrd13a
|
UTSW |
5 |
114,924,818 (GRCm39) |
missense |
probably benign |
0.28 |
R6772:Ankrd13a
|
UTSW |
5 |
114,939,804 (GRCm39) |
missense |
probably benign |
0.00 |
R7146:Ankrd13a
|
UTSW |
5 |
114,913,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R7440:Ankrd13a
|
UTSW |
5 |
114,941,636 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7567:Ankrd13a
|
UTSW |
5 |
114,927,545 (GRCm39) |
splice site |
probably null |
|
R7849:Ankrd13a
|
UTSW |
5 |
114,929,343 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8006:Ankrd13a
|
UTSW |
5 |
114,942,484 (GRCm39) |
makesense |
probably null |
|
R8906:Ankrd13a
|
UTSW |
5 |
114,939,798 (GRCm39) |
missense |
probably benign |
0.00 |
R8977:Ankrd13a
|
UTSW |
5 |
114,933,806 (GRCm39) |
nonsense |
probably null |
|
R9231:Ankrd13a
|
UTSW |
5 |
114,942,295 (GRCm39) |
missense |
probably damaging |
0.98 |
R9667:Ankrd13a
|
UTSW |
5 |
114,933,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-11-18 |