Incidental Mutation 'R5065:Gm8674'
| ID |
388304 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm8674
|
| Ensembl Gene |
ENSMUSG00000093976 |
| Gene Name |
predicted gene 8674 |
| Synonyms |
|
| MMRRC Submission |
042655-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R5065 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
50053085-50056359 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 50056613 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179367
|
| SMART Domains |
Protein: ENSMUSP00000137219
Gene: ENSMUSG00000093976
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
70 |
86 |
N/A |
INTRINSIC |
|
Pfam:FAM75
|
92 |
444 |
3.6e-27 |
PFAM |
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310009B15Rik |
T |
A |
1: 138,779,893 (GRCm39) |
N120Y |
probably damaging |
Het |
| A930011G23Rik |
G |
A |
5: 99,382,432 (GRCm39) |
T272M |
probably benign |
Het |
| Aldh9a1 |
A |
G |
1: 167,180,128 (GRCm39) |
E74G |
probably damaging |
Het |
| Asxl3 |
C |
G |
18: 22,658,356 (GRCm39) |
A2122G |
possibly damaging |
Het |
| Bcl2l10 |
A |
T |
9: 75,255,261 (GRCm39) |
E26V |
possibly damaging |
Het |
| Cspg4b |
T |
A |
13: 113,457,453 (GRCm39) |
H1166Q |
probably benign |
Het |
| Dennd2a |
C |
A |
6: 39,472,110 (GRCm39) |
|
probably null |
Het |
| Dock3 |
A |
G |
9: 106,832,883 (GRCm39) |
F129L |
probably damaging |
Het |
| Gm4847 |
A |
T |
1: 166,462,359 (GRCm39) |
I377N |
probably damaging |
Het |
| Hhipl2 |
A |
T |
1: 183,207,580 (GRCm39) |
H433L |
probably benign |
Het |
| Hsfy2 |
G |
A |
1: 56,675,626 (GRCm39) |
Q304* |
probably null |
Het |
| Ighg2c |
T |
C |
12: 113,251,708 (GRCm39) |
I140V |
unknown |
Het |
| Kmt2a |
T |
C |
9: 44,753,997 (GRCm39) |
|
probably benign |
Het |
| Map3k5 |
A |
G |
10: 19,958,213 (GRCm39) |
E671G |
probably damaging |
Het |
| Map6 |
A |
G |
7: 98,985,917 (GRCm39) |
D607G |
probably benign |
Het |
| Mroh4 |
C |
T |
15: 74,500,119 (GRCm39) |
|
probably null |
Het |
| Or10g6 |
A |
G |
9: 39,934,546 (GRCm39) |
I286V |
probably benign |
Het |
| Pcsk6 |
A |
G |
7: 65,560,047 (GRCm39) |
D124G |
possibly damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,445,689 (GRCm39) |
N3790K |
possibly damaging |
Het |
| Polr3b |
C |
A |
10: 84,468,402 (GRCm39) |
N129K |
probably benign |
Het |
| Ptpn23 |
A |
T |
9: 110,227,256 (GRCm39) |
L31Q |
possibly damaging |
Het |
| Sema3c |
A |
G |
5: 17,932,615 (GRCm39) |
N706S |
possibly damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,218,324 (GRCm39) |
I338V |
probably benign |
Het |
| Slc39a7 |
A |
G |
17: 34,250,033 (GRCm39) |
|
probably benign |
Het |
| Snd1 |
C |
A |
6: 28,888,239 (GRCm39) |
N891K |
probably damaging |
Het |
| Sntg1 |
A |
G |
1: 8,433,663 (GRCm39) |
|
probably benign |
Het |
| Stxbp5 |
A |
T |
10: 9,646,295 (GRCm39) |
L780Q |
probably damaging |
Het |
| Tacr1 |
G |
A |
6: 82,531,859 (GRCm39) |
V252M |
possibly damaging |
Het |
| Tdrp |
T |
C |
8: 14,003,791 (GRCm39) |
E182G |
probably damaging |
Het |
| Vmn1r58 |
A |
G |
7: 5,413,834 (GRCm39) |
I132T |
probably benign |
Het |
| Wap |
A |
T |
11: 6,586,840 (GRCm39) |
N86K |
probably damaging |
Het |
|
| Other mutations in Gm8674 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0355:Gm8674
|
UTSW |
13 |
50,055,975 (GRCm39) |
exon |
noncoding transcript |
|
|
R0357:Gm8674
|
UTSW |
13 |
50,056,149 (GRCm39) |
exon |
noncoding transcript |
|
|
R0627:Gm8674
|
UTSW |
13 |
50,053,751 (GRCm39) |
exon |
noncoding transcript |
|
|
R0833:Gm8674
|
UTSW |
13 |
50,058,611 (GRCm39) |
exon |
noncoding transcript |
|
|
R1300:Gm8674
|
UTSW |
13 |
50,055,758 (GRCm39) |
exon |
noncoding transcript |
|
|
R1452:Gm8674
|
UTSW |
13 |
50,054,553 (GRCm39) |
exon |
noncoding transcript |
|
|
R1542:Gm8674
|
UTSW |
13 |
50,054,039 (GRCm39) |
exon |
noncoding transcript |
|
|
R1613:Gm8674
|
UTSW |
13 |
50,056,474 (GRCm39) |
intron |
noncoding transcript |
|
|
R1643:Gm8674
|
UTSW |
13 |
50,055,394 (GRCm39) |
exon |
noncoding transcript |
|
|
R1732:Gm8674
|
UTSW |
13 |
50,055,962 (GRCm39) |
exon |
noncoding transcript |
|
|
R1824:Gm8674
|
UTSW |
13 |
50,054,844 (GRCm39) |
exon |
noncoding transcript |
|
|
R1840:Gm8674
|
UTSW |
13 |
50,055,801 (GRCm39) |
exon |
noncoding transcript |
|
|
R1915:Gm8674
|
UTSW |
13 |
50,054,889 (GRCm39) |
exon |
noncoding transcript |
|
|
R1934:Gm8674
|
UTSW |
13 |
50,055,471 (GRCm39) |
exon |
noncoding transcript |
|
|
R2040:Gm8674
|
UTSW |
13 |
50,055,705 (GRCm39) |
exon |
noncoding transcript |
|
|
R2214:Gm8674
|
UTSW |
13 |
50,055,396 (GRCm39) |
exon |
noncoding transcript |
|
|
R2421:Gm8674
|
UTSW |
13 |
50,054,699 (GRCm39) |
exon |
noncoding transcript |
|
|
R3423:Gm8674
|
UTSW |
13 |
50,055,792 (GRCm39) |
exon |
noncoding transcript |
|
|
R3425:Gm8674
|
UTSW |
13 |
50,055,792 (GRCm39) |
exon |
noncoding transcript |
|
|
R3886:Gm8674
|
UTSW |
13 |
50,056,199 (GRCm39) |
splice site |
noncoding transcript |
|
|
R4083:Gm8674
|
UTSW |
13 |
50,055,047 (GRCm39) |
exon |
noncoding transcript |
|
|
R4343:Gm8674
|
UTSW |
13 |
50,053,742 (GRCm39) |
exon |
noncoding transcript |
|
|
R4570:Gm8674
|
UTSW |
13 |
50,056,570 (GRCm39) |
intron |
noncoding transcript |
|
|
R4936:Gm8674
|
UTSW |
13 |
50,054,791 (GRCm39) |
exon |
noncoding transcript |
|
|
R4967:Gm8674
|
UTSW |
13 |
50,056,034 (GRCm39) |
exon |
noncoding transcript |
|
|
R5067:Gm8674
|
UTSW |
13 |
50,053,870 (GRCm39) |
exon |
noncoding transcript |
|
|
R5120:Gm8674
|
UTSW |
13 |
50,055,984 (GRCm39) |
exon |
noncoding transcript |
|
|
R5208:Gm8674
|
UTSW |
13 |
50,055,957 (GRCm39) |
exon |
noncoding transcript |
|
|
R5268:Gm8674
|
UTSW |
13 |
50,055,390 (GRCm39) |
exon |
noncoding transcript |
|
|
R5471:Gm8674
|
UTSW |
13 |
50,054,849 (GRCm39) |
exon |
noncoding transcript |
|
|
R5773:Gm8674
|
UTSW |
13 |
50,055,912 (GRCm39) |
exon |
noncoding transcript |
|
|
R5809:Gm8674
|
UTSW |
13 |
50,055,924 (GRCm39) |
exon |
noncoding transcript |
|
|
R8162:Gm8674
|
UTSW |
13 |
50,054,407 (GRCm39) |
missense |
noncoding transcript |
|
|
R8239:Gm8674
|
UTSW |
13 |
50,054,262 (GRCm39) |
missense |
noncoding transcript |
|
|
Z1088:Gm8674
|
UTSW |
13 |
50,055,284 (GRCm39) |
exon |
noncoding transcript |
|
|
Z1088:Gm8674
|
UTSW |
13 |
50,054,830 (GRCm39) |
exon |
noncoding transcript |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTCCATGTCACATGTTCAG -3'
(R):5'- AGCTTCAATTCTCACAGCTGC -3'
Sequencing Primer
(F):5'- CCATGTCACATGTTCAGAAGTC -3'
(R):5'- TCAGATAAATGGTGCTGTGTCC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation