Incidental Mutation 'R3442:2900092C05Rik'
| ID |
267416 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
2900092C05Rik
|
| Ensembl Gene |
ENSMUSG00000030385 |
| Gene Name |
RIKEN cDNA 2900092C05 gene |
| Synonyms |
|
| MMRRC Submission |
040660-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R3442 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
12246444-12290250 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 12246583 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 26
(Y26*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032541
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032541]
|
| AlphaFold |
Q5I0V9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000032541
AA Change: Y26*
|
| SMART Domains |
Protein: ENSMUSP00000032541
Gene: ENSMUSG00000030385
AA Change: Y26*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
transmembrane domain
|
96 |
118 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000121897
|
| Meta Mutation Damage Score |
0.9642 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam30 |
T |
C |
3: 98,069,886 (GRCm39) |
I573T |
probably benign |
Het |
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| Cav3 |
G |
A |
6: 112,449,402 (GRCm39) |
C140Y |
possibly damaging |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Cfap91 |
T |
C |
16: 38,154,168 (GRCm39) |
M126V |
probably benign |
Het |
| Dbt |
T |
A |
3: 116,341,840 (GRCm39) |
D480E |
probably benign |
Het |
| Dmbt1 |
G |
A |
7: 130,707,979 (GRCm39) |
C1407Y |
probably damaging |
Het |
| Frem3 |
C |
T |
8: 81,339,669 (GRCm39) |
P654L |
probably damaging |
Het |
| Glb1l2 |
C |
T |
9: 26,692,038 (GRCm39) |
A74T |
probably damaging |
Het |
| Gpx1 |
C |
G |
9: 108,216,549 (GRCm39) |
T13S |
probably benign |
Het |
| Grik3 |
C |
A |
4: 125,587,763 (GRCm39) |
L628M |
probably damaging |
Het |
| Grik3 |
T |
A |
4: 125,587,764 (GRCm39) |
L628Q |
probably damaging |
Het |
| Gsap |
A |
G |
5: 21,483,125 (GRCm39) |
Y610C |
probably damaging |
Het |
| Gtf3c6 |
T |
A |
10: 40,127,169 (GRCm39) |
E123V |
probably null |
Het |
| Htr3b |
T |
C |
9: 48,856,815 (GRCm39) |
D221G |
probably benign |
Het |
| Msmb |
A |
G |
14: 31,872,173 (GRCm39) |
N55D |
probably benign |
Het |
| Mx1 |
T |
A |
16: 97,257,431 (GRCm39) |
I109F |
probably damaging |
Het |
| Mynn |
T |
C |
3: 30,667,712 (GRCm39) |
F471L |
probably damaging |
Het |
| Or9i2 |
T |
C |
19: 13,816,370 (GRCm39) |
T56A |
possibly damaging |
Het |
| Otof |
T |
C |
5: 30,529,033 (GRCm39) |
R1792G |
probably damaging |
Het |
| Sil1 |
A |
T |
18: 35,458,449 (GRCm39) |
L182H |
probably damaging |
Het |
| Sla |
C |
T |
15: 66,655,509 (GRCm39) |
G210D |
probably benign |
Het |
| Slc26a7 |
C |
T |
4: 14,565,511 (GRCm39) |
V191M |
probably benign |
Het |
| Trrap |
A |
G |
5: 144,729,062 (GRCm39) |
M659V |
probably benign |
Het |
| Ubxn6 |
G |
T |
17: 56,376,049 (GRCm39) |
Q371K |
probably benign |
Het |
| Zfat |
A |
T |
15: 67,956,402 (GRCm39) |
D1143E |
probably benign |
Het |
| Zfat |
C |
T |
15: 67,973,430 (GRCm39) |
A1122T |
probably damaging |
Het |
| Zfp950 |
A |
T |
19: 61,107,170 (GRCm39) |
C149* |
probably null |
Het |
|
| Other mutations in 2900092C05Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00714:2900092C05Rik
|
APN |
7 |
12,289,931 (GRCm39) |
splice site |
probably benign |
|
|
IGL01744:2900092C05Rik
|
APN |
7 |
12,284,459 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03047:2900092C05Rik
|
UTSW |
7 |
12,246,568 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0001:2900092C05Rik
|
UTSW |
7 |
12,288,534 (GRCm39) |
splice site |
probably benign |
|
|
R0607:2900092C05Rik
|
UTSW |
7 |
12,288,625 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0831:2900092C05Rik
|
UTSW |
7 |
12,284,523 (GRCm39) |
splice site |
probably benign |
|
|
R1468:2900092C05Rik
|
UTSW |
7 |
12,246,507 (GRCm39) |
start codon destroyed |
probably null |
0.83 |
|
R1468:2900092C05Rik
|
UTSW |
7 |
12,246,507 (GRCm39) |
start codon destroyed |
probably null |
0.83 |
|
R1846:2900092C05Rik
|
UTSW |
7 |
12,246,809 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1852:2900092C05Rik
|
UTSW |
7 |
12,246,629 (GRCm39) |
splice site |
probably null |
|
|
R1912:2900092C05Rik
|
UTSW |
7 |
12,288,582 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3694:2900092C05Rik
|
UTSW |
7 |
12,284,443 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R3751:2900092C05Rik
|
UTSW |
7 |
12,289,973 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5977:2900092C05Rik
|
UTSW |
7 |
12,288,664 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6158:2900092C05Rik
|
UTSW |
7 |
12,246,599 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6777:2900092C05Rik
|
UTSW |
7 |
12,246,756 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6931:2900092C05Rik
|
UTSW |
7 |
12,246,523 (GRCm39) |
missense |
unknown |
|
|
R7284:2900092C05Rik
|
UTSW |
7 |
12,246,605 (GRCm39) |
nonsense |
probably null |
|
|
R7406:2900092C05Rik
|
UTSW |
7 |
12,249,391 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8472:2900092C05Rik
|
UTSW |
7 |
12,246,568 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8802:2900092C05Rik
|
UTSW |
7 |
12,249,415 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8877:2900092C05Rik
|
UTSW |
7 |
12,288,704 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9175:2900092C05Rik
|
UTSW |
7 |
12,249,412 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTAGCCCAAACATTCCACTG -3'
(R):5'- CTGTTGGTCGAAGTATTGCAAG -3'
Sequencing Primer
(F):5'- ACTGCTCTAGCCACTGGG -3'
(R):5'- GTCGAAGTATTGCAAGTAAGCCTCTG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation