Incidental Mutation 'IGL00650:9130230L23Rik'
| ID |
88900 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
9130230L23Rik
|
| Ensembl Gene |
ENSMUSG00000054598 |
| Gene Name |
RIKEN cDNA 9130230L23 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.210)
|
| Stock # |
IGL00650
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
66145271-66161628 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 66147187 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 76
(N76S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143918
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165250]
[ENSMUST00000201351]
|
| AlphaFold |
Q8CC80 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000067737
AA Change: N76S
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132533
AA Change: N55S
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000165250
AA Change: N76S
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175329
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000201351
AA Change: N76S
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201562
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202278
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202773
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5530401A14Rik |
A |
G |
11: 81,784,694 (GRCm39) |
|
probably benign |
Het |
| Chm |
A |
G |
X: 111,953,292 (GRCm39) |
F574S |
probably damaging |
Het |
| Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
| Dnah3 |
A |
G |
7: 119,538,128 (GRCm39) |
I3619T |
possibly damaging |
Het |
| Dock11 |
A |
T |
X: 35,270,246 (GRCm39) |
|
probably benign |
Het |
| Duox1 |
T |
A |
2: 122,163,622 (GRCm39) |
M818K |
possibly damaging |
Het |
| Ghrhr |
A |
G |
6: 55,356,110 (GRCm39) |
T68A |
probably benign |
Het |
| Hltf |
T |
C |
3: 20,159,796 (GRCm39) |
|
probably benign |
Het |
| Inpp5f |
T |
A |
7: 128,265,991 (GRCm39) |
W211R |
probably benign |
Het |
| Jcad |
A |
G |
18: 4,675,692 (GRCm39) |
I1151M |
probably benign |
Het |
| Klra9 |
T |
C |
6: 130,156,060 (GRCm39) |
K232E |
probably benign |
Het |
| Mycbp2 |
T |
C |
14: 103,380,664 (GRCm39) |
N3664S |
probably damaging |
Het |
| Ndst2 |
A |
C |
14: 20,779,736 (GRCm39) |
I168S |
possibly damaging |
Het |
| Nmral1 |
A |
T |
16: 4,534,240 (GRCm39) |
L67Q |
probably benign |
Het |
| Nrk |
G |
T |
X: 137,873,670 (GRCm39) |
V322F |
probably damaging |
Het |
| Qpct |
G |
A |
17: 79,378,318 (GRCm39) |
V163M |
probably damaging |
Het |
| Rsf1 |
T |
C |
7: 97,331,096 (GRCm39) |
|
probably null |
Het |
| Scn1a |
C |
T |
2: 66,111,137 (GRCm39) |
G1484D |
probably damaging |
Het |
| Skic3 |
A |
G |
13: 76,275,626 (GRCm39) |
D411G |
possibly damaging |
Het |
| Xpo5 |
T |
C |
17: 46,519,172 (GRCm39) |
Y204H |
probably damaging |
Het |
| Zrsr2 |
A |
T |
X: 162,722,313 (GRCm39) |
M313K |
probably benign |
Het |
|
| Other mutations in 9130230L23Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02186:9130230L23Rik
|
APN |
5 |
66,145,811 (GRCm39) |
missense |
unknown |
|
|
R0400:9130230L23Rik
|
UTSW |
5 |
66,147,699 (GRCm39) |
missense |
unknown |
|
|
R1078:9130230L23Rik
|
UTSW |
5 |
66,145,698 (GRCm39) |
missense |
unknown |
|
|
R1188:9130230L23Rik
|
UTSW |
5 |
66,147,741 (GRCm39) |
missense |
unknown |
|
|
R1867:9130230L23Rik
|
UTSW |
5 |
66,157,560 (GRCm39) |
start codon destroyed |
probably null |
|
|
R1868:9130230L23Rik
|
UTSW |
5 |
66,157,560 (GRCm39) |
start codon destroyed |
probably null |
|
|
R5903:9130230L23Rik
|
UTSW |
5 |
66,145,661 (GRCm39) |
missense |
unknown |
|
|
R5925:9130230L23Rik
|
UTSW |
5 |
66,147,735 (GRCm39) |
nonsense |
probably null |
|
|
R7318:9130230L23Rik
|
UTSW |
5 |
66,145,771 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2013-12-03 |
Incidental Mutation