Incidental Mutation 'R3423:Gm8674'
| ID |
267131 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm8674
|
| Ensembl Gene |
ENSMUSG00000093976 |
| Gene Name |
predicted gene 8674 |
| Synonyms |
|
| MMRRC Submission |
040641-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R3423 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
50053085-50056359 bp(-) (GRCm39) |
| Type of Mutation |
exon |
| DNA Base Change (assembly) |
T to A
at 50055792 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: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (38/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap8 |
A |
G |
17: 32,535,429 (GRCm39) |
F195S |
possibly damaging |
Het |
| Aldh3a1 |
G |
A |
11: 61,106,362 (GRCm39) |
A246T |
probably damaging |
Het |
| Caskin1 |
T |
A |
17: 24,718,539 (GRCm39) |
N331K |
probably damaging |
Het |
| Ceacam5 |
G |
A |
7: 17,491,562 (GRCm39) |
S644N |
possibly damaging |
Het |
| Csmd3 |
A |
T |
15: 47,710,648 (GRCm39) |
D1646E |
probably damaging |
Het |
| Cyp4a12a |
A |
C |
4: 115,184,471 (GRCm39) |
K282T |
probably benign |
Het |
| Dtnb |
C |
T |
12: 3,641,962 (GRCm39) |
R42* |
probably null |
Het |
| Dyrk3 |
A |
G |
1: 131,057,219 (GRCm39) |
I318T |
probably damaging |
Het |
| Fhip2b |
G |
A |
14: 70,824,025 (GRCm39) |
T535M |
probably damaging |
Het |
| Gm11110 |
T |
C |
17: 57,410,435 (GRCm39) |
|
probably benign |
Het |
| Igfn1 |
A |
G |
1: 135,926,379 (GRCm39) |
S24P |
probably benign |
Het |
| Inpp4b |
A |
G |
8: 82,678,890 (GRCm39) |
M307V |
possibly damaging |
Het |
| Ism2 |
T |
C |
12: 87,333,871 (GRCm39) |
N58S |
probably benign |
Het |
| Kmt2a |
A |
C |
9: 44,731,394 (GRCm39) |
|
probably benign |
Het |
| Limk1 |
A |
G |
5: 134,701,523 (GRCm39) |
|
probably null |
Het |
| Lrrc14 |
T |
A |
15: 76,597,318 (GRCm39) |
|
probably null |
Het |
| Mapt |
C |
T |
11: 104,189,548 (GRCm39) |
R189* |
probably null |
Het |
| Meltf |
C |
T |
16: 31,715,343 (GRCm39) |
R679* |
probably null |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Mug2 |
T |
C |
6: 122,024,465 (GRCm39) |
|
probably benign |
Het |
| Myo15a |
G |
A |
11: 60,401,126 (GRCm39) |
|
probably null |
Het |
| Nup98 |
T |
C |
7: 101,834,084 (GRCm39) |
T293A |
probably benign |
Het |
| Nwd2 |
A |
T |
5: 63,957,504 (GRCm39) |
Y278F |
probably damaging |
Het |
| Or12d12 |
T |
A |
17: 37,610,761 (GRCm39) |
D184V |
probably benign |
Het |
| Phactr4 |
A |
C |
4: 132,097,058 (GRCm39) |
D496E |
probably benign |
Het |
| Pramel6 |
T |
A |
2: 87,341,140 (GRCm39) |
|
probably null |
Het |
| Ptprq |
C |
T |
10: 107,418,337 (GRCm39) |
A1680T |
probably damaging |
Het |
| Retnlb |
T |
A |
16: 48,639,008 (GRCm39) |
C70S |
probably damaging |
Het |
| Ros1 |
C |
A |
10: 52,004,512 (GRCm39) |
|
probably null |
Het |
| Sez6l |
T |
C |
5: 112,574,615 (GRCm39) |
D875G |
probably damaging |
Het |
| Slc18b1 |
T |
G |
10: 23,698,874 (GRCm39) |
M348R |
probably damaging |
Het |
| Slc36a3 |
G |
T |
11: 55,033,607 (GRCm39) |
T137K |
probably benign |
Het |
| Sos2 |
T |
C |
12: 69,650,327 (GRCm39) |
N865D |
probably damaging |
Het |
| Sp9 |
G |
A |
2: 73,104,315 (GRCm39) |
A290T |
probably benign |
Het |
| Spg11 |
C |
T |
2: 121,901,534 (GRCm39) |
V1469I |
probably benign |
Het |
| Unc13c |
G |
T |
9: 73,837,935 (GRCm39) |
A972D |
possibly damaging |
Het |
| Vwa3a |
T |
C |
7: 120,398,334 (GRCm39) |
L945P |
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 |
|
|
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 |
|
|
R5065:Gm8674
|
UTSW |
13 |
50,056,613 (GRCm39) |
intron |
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'- GGAGTTCCTTGCTGTTCACC -3'
(R):5'- TGCCTCTGGAAATTGTGACAC -3'
Sequencing Primer
(F):5'- GTTCACCCCCATTTGTTGTATTG -3'
(R):5'- CCTGGAAAATGAGACATGGTTCC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation