Incidental Mutation 'IGL00535:4921513D11Rik'
| ID |
332456 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
4921513D11Rik
|
| Ensembl Gene |
ENSMUSG00000066944 |
| Gene Name |
RIKEN cDNA 4921513D11 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.226)
|
| Stock # |
IGL00535
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
79934106-79936110 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to G
at 79935328 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153443
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040368]
[ENSMUST00000224618]
[ENSMUST00000225357]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040368
|
| SMART Domains |
Protein: ENSMUSP00000044543
Gene: ENSMUSG00000036368
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
9 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
54 |
N/A |
INTRINSIC |
|
Blast:PAS
|
70 |
133 |
4e-16 |
BLAST |
|
low complexity region
|
137 |
149 |
N/A |
INTRINSIC |
|
SCOP:d1hxia_
|
290 |
386 |
4e-5 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000086570
AA Change: F147C
|
| SMART Domains |
Protein: ENSMUSP00000083761
Gene: ENSMUSG00000036368
AA Change: F147C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
195 |
210 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223555
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224618
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225357
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armc3 |
A |
G |
2: 19,308,669 (GRCm39) |
E767G |
possibly damaging |
Het |
| Btaf1 |
A |
T |
19: 36,974,935 (GRCm39) |
D1403V |
probably damaging |
Het |
| Chd2 |
C |
A |
7: 73,190,576 (GRCm39) |
M2I |
probably benign |
Het |
| Cyp2r1 |
C |
A |
7: 114,151,061 (GRCm39) |
M419I |
probably benign |
Het |
| Dnttip2 |
A |
T |
3: 122,078,148 (GRCm39) |
R727W |
probably damaging |
Het |
| Gtf3c1 |
G |
T |
7: 125,243,325 (GRCm39) |
H1760N |
probably benign |
Het |
| Iffo1 |
C |
T |
6: 125,137,516 (GRCm39) |
A532V |
probably damaging |
Het |
| Ints6 |
T |
C |
14: 62,940,628 (GRCm39) |
D574G |
probably damaging |
Het |
| Rims1 |
A |
T |
1: 22,503,172 (GRCm39) |
S671T |
probably benign |
Het |
| Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
| Spam1 |
T |
A |
6: 24,796,722 (GRCm39) |
Y224* |
probably null |
Het |
| Spata6l |
T |
A |
19: 28,937,073 (GRCm39) |
|
probably benign |
Het |
| Spata7 |
A |
C |
12: 98,635,099 (GRCm39) |
E345A |
probably damaging |
Het |
| Tbc1d32 |
A |
G |
10: 56,091,221 (GRCm39) |
|
probably benign |
Het |
| Tex28 |
T |
C |
X: 73,204,647 (GRCm39) |
H215R |
probably damaging |
Het |
| Tmigd3 |
A |
T |
3: 105,824,384 (GRCm39) |
R118* |
probably null |
Het |
| Wnk4 |
T |
A |
11: 101,155,175 (GRCm39) |
M362K |
probably damaging |
Het |
|
| Other mutations in 4921513D11Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02131:4921513D11Rik
|
APN |
17 |
79,935,084 (GRCm39) |
intron |
probably benign |
|
|
R0358:4921513D11Rik
|
UTSW |
17 |
79,935,585 (GRCm39) |
intron |
probably benign |
|
|
R0746:4921513D11Rik
|
UTSW |
17 |
79,935,715 (GRCm39) |
intron |
probably benign |
|
|
R0781:4921513D11Rik
|
UTSW |
17 |
79,935,180 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1803:4921513D11Rik
|
UTSW |
17 |
79,935,095 (GRCm39) |
intron |
probably benign |
|
|
R1923:4921513D11Rik
|
UTSW |
17 |
79,935,562 (GRCm39) |
intron |
probably benign |
|
|
R4968:4921513D11Rik
|
UTSW |
17 |
79,935,651 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5156:4921513D11Rik
|
UTSW |
17 |
79,935,638 (GRCm39) |
intron |
probably benign |
|
|
R8178:4921513D11Rik
|
UTSW |
17 |
79,935,699 (GRCm39) |
missense |
|
|
|
| Posted On |
2015-08-05 |
Incidental Mutation