Incidental Mutation 'IGL02639:4930447A16Rik'
| ID |
301656 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
4930447A16Rik
|
| Ensembl Gene |
ENSMUSG00000022288 |
| Gene Name |
RIKEN cDNA 4930447A16 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
IGL02639
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
37425835-37440897 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 37430048 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 71
(R71*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022897
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022897]
[ENSMUST00000090150]
[ENSMUST00000116445]
[ENSMUST00000119730]
[ENSMUST00000120746]
[ENSMUST00000168992]
[ENSMUST00000153775]
[ENSMUST00000148652]
[ENSMUST00000150453]
|
| AlphaFold |
Q9D5F6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022897
AA Change: R71*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090150
|
| SMART Domains |
Protein: ENSMUSP00000087611
Gene: ENSMUSG00000051359
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
64 |
92 |
4.19e-4 |
SMART |
|
EFh
|
100 |
128 |
4.7e-7 |
SMART |
|
EFh
|
148 |
176 |
1.95e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116445
|
| SMART Domains |
Protein: ENSMUSP00000112146
Gene: ENSMUSG00000051359
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
64 |
92 |
4.19e-4 |
SMART |
|
EFh
|
100 |
128 |
4.7e-7 |
SMART |
|
EFh
|
148 |
176 |
1.95e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119730
|
| SMART Domains |
Protein: ENSMUSP00000113858
Gene: ENSMUSG00000051359
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
64 |
92 |
4.19e-4 |
SMART |
|
EFh
|
100 |
128 |
4.7e-7 |
SMART |
|
EFh
|
148 |
176 |
1.95e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120746
|
| SMART Domains |
Protein: ENSMUSP00000112898
Gene: ENSMUSG00000051359
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
64 |
92 |
4.19e-4 |
SMART |
|
EFh
|
100 |
128 |
4.7e-7 |
SMART |
|
EFh
|
148 |
176 |
1.95e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123777
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127335
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140044
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132423
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151356
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145909
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135401
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128804
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168992
|
| SMART Domains |
Protein: ENSMUSP00000130126
Gene: ENSMUSG00000051359
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
64 |
92 |
4.19e-4 |
SMART |
|
EFh
|
100 |
128 |
4.7e-7 |
SMART |
|
EFh
|
148 |
176 |
1.95e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153775
|
| SMART Domains |
Protein: ENSMUSP00000114576
Gene: ENSMUSG00000051359
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
64 |
92 |
4.19e-4 |
SMART |
|
EFh
|
100 |
128 |
4.7e-7 |
SMART |
|
EFh
|
148 |
174 |
1.4e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148652
|
| SMART Domains |
Protein: ENSMUSP00000121460
Gene: ENSMUSG00000051359
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
64 |
92 |
4.19e-4 |
SMART |
|
EFh
|
100 |
128 |
4.7e-7 |
SMART |
|
Pfam:EF-hand_5
|
149 |
163 |
1.2e-4 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150453
|
| SMART Domains |
Protein: ENSMUSP00000119726
Gene: ENSMUSG00000051359
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_7
|
3 |
88 |
3.9e-8 |
PFAM |
|
Pfam:EF-hand_8
|
39 |
88 |
8.2e-8 |
PFAM |
|
Pfam:EF-hand_1
|
64 |
88 |
5e-8 |
PFAM |
|
Pfam:EF-hand_6
|
64 |
88 |
1.6e-6 |
PFAM |
|
Pfam:EF-hand_5
|
65 |
86 |
2.5e-8 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
T |
11: 110,178,899 (GRCm39) |
I1140N |
possibly damaging |
Het |
| Atp6v0a1 |
T |
A |
11: 100,946,344 (GRCm39) |
I773N |
possibly damaging |
Het |
| Atp9a |
A |
G |
2: 168,491,540 (GRCm39) |
M675T |
probably damaging |
Het |
| Baz1a |
A |
G |
12: 54,942,810 (GRCm39) |
|
probably benign |
Het |
| Cd5l |
T |
C |
3: 87,275,813 (GRCm39) |
V261A |
probably damaging |
Het |
| Copb1 |
A |
G |
7: 113,825,830 (GRCm39) |
|
probably benign |
Het |
| Cul5 |
T |
C |
9: 53,566,642 (GRCm39) |
D130G |
possibly damaging |
Het |
| Cyp2j5 |
T |
A |
4: 96,546,986 (GRCm39) |
Q176L |
probably benign |
Het |
| Ddo |
A |
G |
10: 40,523,733 (GRCm39) |
D241G |
probably damaging |
Het |
| Defa29 |
A |
G |
8: 21,816,137 (GRCm39) |
C77R |
possibly damaging |
Het |
| Dpp4 |
T |
C |
2: 62,182,584 (GRCm39) |
N566D |
probably benign |
Het |
| Eif1ad14 |
G |
T |
12: 87,886,269 (GRCm39) |
T120K |
probably benign |
Het |
| Emilin2 |
T |
C |
17: 71,581,544 (GRCm39) |
D394G |
probably benign |
Het |
| Fbf1 |
T |
C |
11: 116,043,426 (GRCm39) |
E461G |
probably benign |
Het |
| Fgfr2 |
A |
G |
7: 129,830,532 (GRCm39) |
|
probably benign |
Het |
| Fibcd1 |
G |
A |
2: 31,707,162 (GRCm39) |
T365M |
probably damaging |
Het |
| Fndc3a |
A |
C |
14: 72,811,797 (GRCm39) |
H344Q |
probably benign |
Het |
| Fnip1 |
T |
A |
11: 54,366,466 (GRCm39) |
C52* |
probably null |
Het |
| Fto |
T |
A |
8: 92,136,156 (GRCm39) |
N143K |
probably damaging |
Het |
| Hells |
G |
T |
19: 38,926,873 (GRCm39) |
L84F |
probably damaging |
Het |
| Hydin |
G |
A |
8: 111,265,081 (GRCm39) |
V2755I |
probably benign |
Het |
| Irgq |
C |
A |
7: 24,230,887 (GRCm39) |
A26E |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,471,964 (GRCm39) |
I1518V |
probably damaging |
Het |
| Klhl29 |
A |
T |
12: 5,187,453 (GRCm39) |
Y304N |
probably damaging |
Het |
| Muc6 |
T |
C |
7: 141,235,843 (GRCm39) |
|
probably benign |
Het |
| Myo15a |
T |
C |
11: 60,369,447 (GRCm39) |
F736L |
probably benign |
Het |
| Nynrin |
G |
T |
14: 56,108,112 (GRCm39) |
W1073L |
probably damaging |
Het |
| Or10h28 |
G |
A |
17: 33,488,369 (GRCm39) |
V224M |
possibly damaging |
Het |
| Or10w1 |
A |
T |
19: 13,631,960 (GRCm39) |
T51S |
possibly damaging |
Het |
| Or14c46 |
A |
T |
7: 85,918,928 (GRCm39) |
I23N |
probably damaging |
Het |
| Or14j10 |
A |
T |
17: 37,934,878 (GRCm39) |
I216N |
probably benign |
Het |
| Or1e29 |
A |
T |
11: 73,667,371 (GRCm39) |
C261S |
probably benign |
Het |
| Or51a10 |
C |
A |
7: 103,698,988 (GRCm39) |
C191F |
probably damaging |
Het |
| Or52e8b |
T |
A |
7: 104,673,429 (GRCm39) |
I253F |
probably damaging |
Het |
| Pdzd2 |
T |
A |
15: 12,592,329 (GRCm39) |
K105M |
probably damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Pola2 |
A |
G |
19: 6,003,802 (GRCm39) |
V191A |
probably benign |
Het |
| Slc22a8 |
A |
T |
19: 8,571,323 (GRCm39) |
Y18F |
probably benign |
Het |
| Slc26a5 |
C |
T |
5: 22,024,765 (GRCm39) |
V440M |
probably damaging |
Het |
|
| Other mutations in 4930447A16Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02163:4930447A16Rik
|
APN |
15 |
37,439,852 (GRCm39) |
intron |
probably benign |
|
|
R0569:4930447A16Rik
|
UTSW |
15 |
37,425,863 (GRCm39) |
start codon destroyed |
probably null |
|
|
R1596:4930447A16Rik
|
UTSW |
15 |
37,426,018 (GRCm39) |
intron |
probably benign |
|
|
R1728:4930447A16Rik
|
UTSW |
15 |
37,439,844 (GRCm39) |
intron |
probably benign |
|
|
R1729:4930447A16Rik
|
UTSW |
15 |
37,439,844 (GRCm39) |
intron |
probably benign |
|
|
R1967:4930447A16Rik
|
UTSW |
15 |
37,439,842 (GRCm39) |
intron |
probably benign |
|
|
R2018:4930447A16Rik
|
UTSW |
15 |
37,440,742 (GRCm39) |
intron |
probably benign |
|
|
R4811:4930447A16Rik
|
UTSW |
15 |
37,425,952 (GRCm39) |
intron |
probably benign |
|
|
R5760:4930447A16Rik
|
UTSW |
15 |
37,439,835 (GRCm39) |
intron |
probably benign |
|
|
R6572:4930447A16Rik
|
UTSW |
15 |
37,425,961 (GRCm39) |
nonsense |
probably null |
|
|
R6604:4930447A16Rik
|
UTSW |
15 |
37,439,823 (GRCm39) |
intron |
probably benign |
|
|
R8544:4930447A16Rik
|
UTSW |
15 |
37,425,979 (GRCm39) |
intron |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation