Incidental Mutation 'R6772:Ankrd13a'
| ID |
532205 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd13a
|
| Ensembl Gene |
ENSMUSG00000041870 |
| Gene Name |
ankyrin repeat domain 13a |
| Synonyms |
1100001D10Rik |
| MMRRC Submission |
044888-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
R6772 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
114913009-114943882 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 114939804 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 477
(H477R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099638
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102578]
|
| AlphaFold |
Q80UP5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102578
AA Change: H477R
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000099638
Gene: ENSMUSG00000041870
AA Change: H477R
| 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 |
unknown
Transcript: ENSMUST00000137519
AA Change: H411R
|
| SMART Domains |
Protein: ENSMUSP00000116994
Gene: ENSMUSG00000041870
AA Change: H411R
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
7 |
38 |
2.03e-1 |
SMART |
|
Pfam:GPCR_chapero_1
|
90 |
403 |
8.2e-108 |
PFAM |
|
| Meta Mutation Damage Score |
0.0857 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.7%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
T |
7: 120,126,276 (GRCm39) |
D1144V |
probably damaging |
Het |
| Anxa3 |
A |
T |
5: 96,958,972 (GRCm39) |
I27F |
probably damaging |
Het |
| Aplf |
T |
C |
6: 87,640,781 (GRCm39) |
E76G |
possibly damaging |
Het |
| Bbs1 |
A |
G |
19: 4,956,618 (GRCm39) |
|
probably benign |
Het |
| Camk2a |
T |
C |
18: 61,102,092 (GRCm39) |
S332P |
probably benign |
Het |
| Casz1 |
T |
A |
4: 149,027,663 (GRCm39) |
F1013L |
probably damaging |
Het |
| Cd109 |
A |
T |
9: 78,588,092 (GRCm39) |
I707F |
possibly damaging |
Het |
| Cd4 |
G |
A |
6: 124,849,421 (GRCm39) |
T202I |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,914,983 (GRCm39) |
S997P |
probably benign |
Het |
| Cfap77 |
T |
C |
2: 28,944,951 (GRCm39) |
T24A |
probably damaging |
Het |
| Dscaml1 |
G |
A |
9: 45,621,609 (GRCm39) |
R1019H |
probably damaging |
Het |
| Epb41l4b |
C |
A |
4: 57,063,140 (GRCm39) |
V517F |
probably benign |
Het |
| Exosc10 |
G |
A |
4: 148,665,591 (GRCm39) |
D818N |
probably damaging |
Het |
| Furin |
C |
T |
7: 80,043,240 (GRCm39) |
G324S |
probably damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Ifi206 |
T |
C |
1: 173,308,773 (GRCm39) |
M408V |
unknown |
Het |
| Kdm4a |
T |
C |
4: 117,999,752 (GRCm39) |
|
probably null |
Het |
| Neo1 |
T |
A |
9: 58,810,259 (GRCm39) |
Q1064L |
probably damaging |
Het |
| Nphp4 |
G |
A |
4: 152,628,863 (GRCm39) |
V750I |
probably benign |
Het |
| Pcdhac1 |
T |
C |
18: 37,223,289 (GRCm39) |
V34A |
probably benign |
Het |
| Pdk4 |
T |
C |
6: 5,487,141 (GRCm39) |
I302V |
probably benign |
Het |
| Prl6a1 |
A |
G |
13: 27,503,031 (GRCm39) |
D209G |
probably damaging |
Het |
| Pspn |
T |
C |
17: 57,306,515 (GRCm39) |
Q138R |
probably benign |
Het |
| Ptgs2 |
A |
G |
1: 149,977,829 (GRCm39) |
Y134C |
probably damaging |
Het |
| Rlbp1 |
G |
A |
7: 79,033,798 (GRCm39) |
|
probably benign |
Het |
| Rpia |
T |
C |
6: 70,762,532 (GRCm39) |
I108V |
probably benign |
Het |
| Tcaf1 |
A |
T |
6: 42,652,210 (GRCm39) |
H757Q |
probably damaging |
Het |
| Ttc8 |
A |
C |
12: 98,909,848 (GRCm39) |
S143R |
probably damaging |
Het |
| Uba6 |
A |
G |
5: 86,294,932 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
A |
T |
4: 139,194,541 (GRCm39) |
K4280* |
probably null |
Het |
| Vmn2r15 |
C |
A |
5: 109,434,238 (GRCm39) |
S822I |
probably damaging |
Het |
| Vps53 |
A |
T |
11: 76,070,324 (GRCm39) |
M1K |
probably null |
Het |
| Zfp362 |
A |
G |
4: 128,684,053 (GRCm39) |
M18T |
possibly damaging |
Het |
| Zfp429 |
A |
G |
13: 67,538,317 (GRCm39) |
C376R |
probably damaging |
Het |
| Zfyve9 |
T |
C |
4: 108,496,466 (GRCm39) |
N1395S |
probably damaging |
Het |
| Zmynd8 |
T |
A |
2: 165,649,521 (GRCm39) |
Q857H |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAGGGGCTTTGCATAAGTAATAC -3'
(R):5'- AGCTTTGTGAAATGACCAACAC -3'
Sequencing Primer
(F):5'- GAATTATGAGTTTGAGCCAGCC -3'
(R):5'- CAGAACATTTCCCCAGGAGGTG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation