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 |