Incidental Mutation 'IGL02579:Traf5'
| ID |
299291 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02579
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
191729166-191776868 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 191731848 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 28
(P28Q)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085573]
|
| AlphaFold |
P70191 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085573
AA Change: P331Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000082710
Gene: ENSMUSG00000026637
AA Change: P331Q
| 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: ENSMUST00000175262
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000192628
AA Change: P28Q
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194408
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
G |
5: 9,005,537 (GRCm39) |
E1140G |
probably damaging |
Het |
| Alcam |
T |
C |
16: 52,091,135 (GRCm39) |
E461G |
probably damaging |
Het |
| Bahcc1 |
A |
G |
11: 120,176,175 (GRCm39) |
|
probably benign |
Het |
| Calhm6 |
C |
A |
10: 34,003,423 (GRCm39) |
M161I |
probably benign |
Het |
| Dnmt1 |
A |
G |
9: 20,829,416 (GRCm39) |
M729T |
possibly damaging |
Het |
| Enpep |
G |
A |
3: 129,077,739 (GRCm39) |
T626M |
probably benign |
Het |
| Gje1 |
A |
T |
10: 14,592,492 (GRCm39) |
C97S |
probably benign |
Het |
| Igkv4-58 |
T |
A |
6: 69,477,385 (GRCm39) |
I71F |
probably damaging |
Het |
| Itfg1 |
G |
A |
8: 86,507,194 (GRCm39) |
T222M |
possibly damaging |
Het |
| Mon1b |
G |
T |
8: 114,365,455 (GRCm39) |
R261L |
possibly damaging |
Het |
| Mtmr6 |
T |
A |
14: 60,519,378 (GRCm39) |
|
probably benign |
Het |
| Nwd1 |
A |
T |
8: 73,434,155 (GRCm39) |
I1251F |
probably damaging |
Het |
| Or5b101 |
T |
C |
19: 13,004,892 (GRCm39) |
D267G |
probably damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Pold1 |
T |
C |
7: 44,192,703 (GRCm39) |
E53G |
probably damaging |
Het |
| Prkdc |
A |
T |
16: 15,488,465 (GRCm39) |
D529V |
possibly damaging |
Het |
| Rgl2 |
A |
G |
17: 34,156,134 (GRCm39) |
T741A |
probably benign |
Het |
| Tex44 |
A |
G |
1: 86,354,169 (GRCm39) |
N26S |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,589,433 (GRCm39) |
Y21274H |
probably damaging |
Het |
| Vmn2r76 |
T |
A |
7: 85,877,961 (GRCm39) |
K479* |
probably null |
Het |
| Zfp322a |
A |
T |
13: 23,541,613 (GRCm39) |
V43E |
probably damaging |
Het |
| Zfp385c |
C |
A |
11: 100,521,605 (GRCm39) |
G152C |
probably damaging |
Het |
| Zfpm2 |
A |
T |
15: 40,962,868 (GRCm39) |
N177Y |
possibly 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 |
|
IGL03308:Traf5
|
APN |
1 |
191,729,461 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4445001:Traf5
|
UTSW |
1 |
191,729,768 (GRCm39) |
missense |
|
|
|
R0028:Traf5
|
UTSW |
1 |
191,758,421 (GRCm39) |
intron |
probably benign |
|
|
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 |
2015-04-16 |
Incidental Mutation