Incidental Mutation 'R0028:Traf5'
| ID |
15740 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Traf5
|
| Ensembl Gene |
ENSMUSG00000026637 |
| Gene Name |
TNF receptor-associated factor 5 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0028 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
191729166-191776868 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to A
at 191758421 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082710
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085573]
|
| AlphaFold |
P70191 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085573
|
| SMART Domains |
Protein: ENSMUSP00000082710
Gene: ENSMUSG00000026637
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
45 |
84 |
1.74e-4 |
SMART |
|
Pfam:zf-TRAF
|
128 |
183 |
4.8e-21 |
PFAM |
|
Pfam:zf-TRAF
|
183 |
241 |
4.2e-19 |
PFAM |
|
MATH
|
402 |
525 |
2.42e-21 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195526
|
| Meta Mutation Damage Score |
0.1847 |
| Coding Region Coverage |
- 1x: 80.7%
- 3x: 72.7%
- 10x: 50.3%
- 20x: 30.1%
|
| Validation Efficiency |
96% (74/77) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The scaffold protein encoded by this gene is a member of the tumor necrosis factor receptor-associated factor (TRAF) protein family and contains a meprin and TRAF homology (MATH) domain, a RING-type zinc finger, and two TRAF-type zinc fingers. TRAF proteins are associated with, and mediate signal transduction from members of the TNF receptor superfamily. This protein is one of the components of a multiple protein complex which binds to tumor necrosis factor (TNF) receptor cytoplasmic domains and mediates TNF-induced activation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous null mice show defects in lymphocyte activation but are otherwise viable and develop normally. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
C |
17: 24,596,698 (GRCm39) |
F384L |
probably benign |
Het |
| AC159748.1 |
T |
C |
10: 5,542,006 (GRCm38) |
|
silent |
Het |
| Adamts12 |
C |
T |
15: 11,215,710 (GRCm39) |
R244C |
probably damaging |
Het |
| Bms1 |
T |
C |
6: 118,393,480 (GRCm39) |
I131V |
probably benign |
Het |
| Ccdc107 |
A |
G |
4: 43,495,549 (GRCm39) |
T151A |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Col4a4 |
A |
G |
1: 82,465,231 (GRCm39) |
|
probably null |
Het |
| Creb1 |
A |
G |
1: 64,609,307 (GRCm39) |
D126G |
probably damaging |
Het |
| Ddb1 |
T |
A |
19: 10,596,610 (GRCm39) |
V443E |
probably damaging |
Het |
| Dnmt3a |
T |
A |
12: 3,950,337 (GRCm39) |
S634T |
probably damaging |
Het |
| Fras1 |
A |
C |
5: 96,825,175 (GRCm39) |
N1455T |
probably benign |
Het |
| Fyb1 |
A |
G |
15: 6,674,395 (GRCm39) |
|
probably benign |
Het |
| Gpr141 |
C |
T |
13: 19,936,599 (GRCm39) |
V59M |
probably damaging |
Het |
| Ikbke |
T |
C |
1: 131,199,921 (GRCm39) |
I222V |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,275,895 (GRCm39) |
H6222Q |
probably damaging |
Het |
| Mapk8ip3 |
C |
T |
17: 25,123,871 (GRCm39) |
|
probably benign |
Het |
| Phactr1 |
A |
T |
13: 43,210,655 (GRCm39) |
D74V |
probably damaging |
Het |
| Prickle2 |
T |
C |
6: 92,399,323 (GRCm39) |
I185V |
probably benign |
Het |
| Rnasel |
A |
T |
1: 153,630,465 (GRCm39) |
D327V |
probably benign |
Het |
| Slc25a13 |
T |
C |
6: 6,181,047 (GRCm39) |
N46D |
probably benign |
Het |
| Slc28a2 |
T |
A |
2: 122,282,083 (GRCm39) |
F261L |
probably damaging |
Het |
| Slc6a15 |
A |
T |
10: 103,252,541 (GRCm39) |
Y568F |
probably benign |
Het |
| Slc7a1 |
A |
G |
5: 148,272,321 (GRCm39) |
V452A |
probably benign |
Het |
| Tectb |
T |
C |
19: 55,183,109 (GRCm39) |
I330T |
probably benign |
Het |
| Tmem92 |
C |
T |
11: 94,669,778 (GRCm39) |
V118I |
possibly damaging |
Het |
| Tmf1 |
T |
C |
6: 97,135,059 (GRCm39) |
E985G |
probably damaging |
Het |
| Trip11 |
T |
C |
12: 101,851,016 (GRCm39) |
E731G |
probably damaging |
Het |
| Unc5a |
A |
G |
13: 55,151,726 (GRCm39) |
S50G |
possibly damaging |
Het |
| Wrnip1 |
T |
C |
13: 33,004,280 (GRCm39) |
L517P |
probably damaging |
Het |
| Zfp202 |
T |
A |
9: 40,123,048 (GRCm39) |
H603Q |
probably damaging |
Het |
|
| Other mutations in Traf5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00499:Traf5
|
APN |
1 |
191,741,589 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01462:Traf5
|
APN |
1 |
191,731,828 (GRCm39) |
missense |
probably benign |
|
|
IGL02262:Traf5
|
APN |
1 |
191,729,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02579:Traf5
|
APN |
1 |
191,731,848 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03308:Traf5
|
APN |
1 |
191,729,461 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4445001:Traf5
|
UTSW |
1 |
191,729,768 (GRCm39) |
missense |
|
|
|
R0689:Traf5
|
UTSW |
1 |
191,729,837 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1511:Traf5
|
UTSW |
1 |
191,731,912 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1641:Traf5
|
UTSW |
1 |
191,729,470 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2235:Traf5
|
UTSW |
1 |
191,738,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2246:Traf5
|
UTSW |
1 |
191,751,190 (GRCm39) |
splice site |
probably null |
|
|
R2301:Traf5
|
UTSW |
1 |
191,729,926 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3973:Traf5
|
UTSW |
1 |
191,729,837 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4396:Traf5
|
UTSW |
1 |
191,729,806 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4793:Traf5
|
UTSW |
1 |
191,729,765 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4834:Traf5
|
UTSW |
1 |
191,751,198 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5779:Traf5
|
UTSW |
1 |
191,729,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5795:Traf5
|
UTSW |
1 |
191,731,807 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5843:Traf5
|
UTSW |
1 |
191,729,446 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5912:Traf5
|
UTSW |
1 |
191,730,030 (GRCm39) |
intron |
probably benign |
|
|
R5963:Traf5
|
UTSW |
1 |
191,731,977 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6246:Traf5
|
UTSW |
1 |
191,754,853 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6287:Traf5
|
UTSW |
1 |
191,731,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6455:Traf5
|
UTSW |
1 |
191,731,887 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7248:Traf5
|
UTSW |
1 |
191,743,432 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7452:Traf5
|
UTSW |
1 |
191,731,792 (GRCm39) |
missense |
|
|
|
R8147:Traf5
|
UTSW |
1 |
191,746,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9301:Traf5
|
UTSW |
1 |
191,729,489 (GRCm39) |
missense |
|
|
|
R9307:Traf5
|
UTSW |
1 |
191,747,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-21 |
Incidental Mutation