Incidental Mutation 'IGL01652:Ankrd13a'
| ID |
102854 |
| 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: 0.106)
|
| Stock # |
IGL01652
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
114913009-114943882 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 114929397 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 158
(D158V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099638
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102578]
|
| AlphaFold |
Q80UP5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102578
AA Change: D158V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099638
Gene: ENSMUSG00000041870
AA Change: D158V
| 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 |
probably damaging
Transcript: ENSMUST00000137519
AA Change: D91V
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000116994
Gene: ENSMUSG00000041870
AA Change: D91V
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alk |
A |
T |
17: 72,910,526 (GRCm39) |
V60E |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,726,690 (GRCm39) |
K868R |
probably benign |
Het |
| Arhgap12 |
G |
T |
18: 6,061,853 (GRCm39) |
N380K |
possibly damaging |
Het |
| Cpn1 |
A |
T |
19: 43,974,533 (GRCm39) |
F65L |
possibly damaging |
Het |
| Dlec1 |
T |
A |
9: 118,972,975 (GRCm39) |
H1496Q |
probably benign |
Het |
| Dock1 |
C |
T |
7: 134,379,226 (GRCm39) |
|
probably benign |
Het |
| Dok1 |
T |
C |
6: 83,009,543 (GRCm39) |
N143D |
probably damaging |
Het |
| Fcmr |
C |
T |
1: 130,806,244 (GRCm39) |
P363L |
probably benign |
Het |
| Galk2 |
A |
G |
2: 125,738,685 (GRCm39) |
T171A |
probably benign |
Het |
| Hrh3 |
G |
T |
2: 179,742,896 (GRCm39) |
P244Q |
possibly damaging |
Het |
| Icam1 |
T |
C |
9: 20,930,472 (GRCm39) |
Y109H |
probably damaging |
Het |
| Nup93 |
T |
C |
8: 95,023,187 (GRCm39) |
V132A |
possibly damaging |
Het |
| Or4c113 |
A |
T |
2: 88,884,913 (GRCm39) |
Y286N |
probably damaging |
Het |
| Pla2g4f |
T |
C |
2: 120,132,716 (GRCm39) |
I707V |
possibly damaging |
Het |
| Rpgrip1 |
G |
A |
14: 52,382,949 (GRCm39) |
|
probably benign |
Het |
| Sbf2 |
A |
T |
7: 110,046,327 (GRCm39) |
V290E |
probably damaging |
Het |
| Stard3 |
T |
G |
11: 98,269,559 (GRCm39) |
|
probably benign |
Het |
| Sufu |
T |
C |
19: 46,464,059 (GRCm39) |
Y424H |
probably damaging |
Het |
| Trim35 |
T |
G |
14: 66,546,250 (GRCm39) |
V339G |
probably damaging |
Het |
| Vmn1r80 |
A |
G |
7: 11,927,063 (GRCm39) |
I58V |
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 |
|
|
IGL01480:Ankrd13a
|
APN |
5 |
114,938,879 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2014-01-21 |
Incidental Mutation