Incidental Mutation 'IGL00963:Ankrd13a'
| ID |
27494 |
| 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 # |
IGL00963
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
114913009-114943882 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 114939863 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 497
(S497P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099638
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102578]
|
| AlphaFold |
Q80UP5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102578
AA Change: S497P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099638
Gene: ENSMUSG00000041870
AA Change: S497P
| 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 |
unknown
Transcript: ENSMUST00000137519
AA Change: S431P
|
| SMART Domains |
Protein: ENSMUSP00000116994
Gene: ENSMUSG00000041870
AA Change: S431P
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AI606181 |
A |
C |
19: 41,582,228 (GRCm39) |
|
probably benign |
Het |
| Alyref2 |
C |
T |
1: 171,331,816 (GRCm39) |
Q198* |
probably null |
Het |
| Chd5 |
C |
A |
4: 152,467,395 (GRCm39) |
N1644K |
probably damaging |
Het |
| Col13a1 |
T |
C |
10: 61,674,476 (GRCm39) |
|
probably benign |
Het |
| Ctnna3 |
T |
A |
10: 64,781,728 (GRCm39) |
D730E |
probably damaging |
Het |
| Dock11 |
A |
G |
X: 35,296,035 (GRCm39) |
Q1197R |
possibly damaging |
Het |
| Drosha |
T |
A |
15: 12,926,083 (GRCm39) |
I1224N |
probably damaging |
Het |
| Dsc1 |
T |
C |
18: 20,245,043 (GRCm39) |
K42R |
probably null |
Het |
| Engase |
A |
G |
11: 118,373,824 (GRCm39) |
D322G |
probably damaging |
Het |
| Ephb2 |
T |
C |
4: 136,386,262 (GRCm39) |
D829G |
probably benign |
Het |
| Fgfr2 |
C |
T |
7: 129,830,491 (GRCm39) |
M47I |
probably damaging |
Het |
| Gad1-ps |
G |
T |
10: 99,281,310 (GRCm39) |
|
noncoding transcript |
Het |
| Gatb |
A |
G |
3: 85,526,255 (GRCm39) |
S378G |
probably benign |
Het |
| Hivep2 |
G |
A |
10: 14,005,091 (GRCm39) |
S563N |
probably damaging |
Het |
| Irs2 |
G |
A |
8: 11,055,867 (GRCm39) |
A855V |
probably benign |
Het |
| Jagn1 |
T |
C |
6: 113,424,436 (GRCm39) |
S103P |
probably damaging |
Het |
| Kdm6a |
T |
A |
X: 18,112,665 (GRCm39) |
|
probably benign |
Het |
| Lmcd1 |
T |
C |
6: 112,306,895 (GRCm39) |
C356R |
probably damaging |
Het |
| Mefv |
T |
A |
16: 3,533,584 (GRCm39) |
Y229F |
possibly damaging |
Het |
| Myef2 |
T |
C |
2: 124,957,395 (GRCm39) |
Y120C |
probably damaging |
Het |
| Myo9a |
T |
G |
9: 59,807,655 (GRCm39) |
I2074S |
probably damaging |
Het |
| Nhs |
A |
G |
X: 160,630,045 (GRCm39) |
S337P |
probably damaging |
Het |
| Nphp4 |
T |
G |
4: 152,622,318 (GRCm39) |
H566Q |
probably benign |
Het |
| Or2d2 |
A |
T |
7: 106,728,272 (GRCm39) |
C109* |
probably null |
Het |
| Or52z13 |
T |
A |
7: 103,246,844 (GRCm39) |
|
probably null |
Het |
| Pabpc2 |
C |
A |
18: 39,908,390 (GRCm39) |
Q552K |
possibly damaging |
Het |
| Podn |
T |
A |
4: 107,879,371 (GRCm39) |
N104I |
probably damaging |
Het |
| Rit1 |
T |
C |
3: 88,633,738 (GRCm39) |
V94A |
probably damaging |
Het |
| Scn7a |
A |
T |
2: 66,534,289 (GRCm39) |
|
probably benign |
Het |
| Septin4 |
A |
T |
11: 87,474,199 (GRCm39) |
K29M |
possibly damaging |
Het |
| Sowahb |
T |
C |
5: 93,191,870 (GRCm39) |
Y283C |
probably damaging |
Het |
| Srbd1 |
A |
T |
17: 86,422,637 (GRCm39) |
W460R |
probably damaging |
Het |
| Svep1 |
T |
A |
4: 58,072,791 (GRCm39) |
K2173* |
probably null |
Het |
| Tlr6 |
T |
C |
5: 65,112,019 (GRCm39) |
N296S |
possibly damaging |
Het |
| Trpm8 |
A |
G |
1: 88,307,549 (GRCm39) |
D1073G |
possibly damaging |
Het |
| Ttc28 |
A |
T |
5: 111,434,255 (GRCm39) |
K2399* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,717,627 (GRCm39) |
|
probably benign |
Het |
| Uroc1 |
C |
T |
6: 90,315,810 (GRCm39) |
T189I |
probably benign |
Het |
| Usp18 |
C |
T |
6: 121,232,341 (GRCm39) |
Q122* |
probably null |
Het |
| Zfp420 |
T |
C |
7: 29,574,518 (GRCm39) |
I246T |
probably damaging |
Het |
| Zfp644 |
T |
C |
5: 106,786,503 (GRCm39) |
|
probably null |
Het |
| Zfp871 |
A |
T |
17: 32,993,726 (GRCm39) |
V483E |
probably benign |
Het |
|
| Other mutations in Ankrd13a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01303:Ankrd13a
|
APN |
5 |
114,924,063 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01392:Ankrd13a
|
APN |
5 |
114,935,914 (GRCm39) |
missense |
probably benign |
|
|
IGL01480:Ankrd13a
|
APN |
5 |
114,938,879 (GRCm39) |
splice site |
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 |
2013-04-17 |
Incidental Mutation