Incidental Mutation 'R6287:Traf5'
| ID |
508258 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Traf5
|
| Ensembl Gene |
ENSMUSG00000026637 |
| Gene Name |
TNF receptor-associated factor 5 |
| Synonyms |
|
| MMRRC Submission |
044457-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6287 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
191729166-191776868 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 191731833 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 336
(L336P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082710
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085573]
|
| AlphaFold |
P70191 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085573
AA Change: L336P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000082710
Gene: ENSMUSG00000026637
AA Change: L336P
| 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 |
unknown
Transcript: ENSMUST00000192628
AA Change: L33P
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194408
|
| Meta Mutation Damage Score |
0.3295 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| Validation Efficiency |
94% (34/36) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy7 |
A |
G |
8: 89,037,736 (GRCm39) |
N268S |
possibly damaging |
Het |
| Ahnak |
T |
A |
19: 8,992,367 (GRCm39) |
H4550Q |
probably benign |
Het |
| C330018D20Rik |
A |
C |
18: 57,095,407 (GRCm39) |
|
probably null |
Het |
| Camta2 |
G |
C |
11: 70,572,295 (GRCm39) |
Q310E |
probably damaging |
Het |
| Caskin1 |
A |
T |
17: 24,715,683 (GRCm39) |
K149M |
probably damaging |
Het |
| Chml |
T |
C |
1: 175,514,569 (GRCm39) |
K108E |
probably benign |
Het |
| Ddx60 |
T |
C |
8: 62,403,612 (GRCm39) |
L345P |
probably damaging |
Het |
| Defb6 |
T |
A |
8: 19,278,085 (GRCm39) |
C52* |
probably null |
Het |
| Flii |
A |
T |
11: 60,612,423 (GRCm39) |
I288N |
probably damaging |
Het |
| Fmnl2 |
T |
C |
2: 52,904,860 (GRCm39) |
Y55H |
probably damaging |
Het |
| Galk2 |
A |
T |
2: 125,712,268 (GRCm39) |
|
probably benign |
Het |
| Ift140 |
T |
A |
17: 25,269,408 (GRCm39) |
C688S |
probably benign |
Het |
| Lmln |
T |
C |
16: 32,894,555 (GRCm39) |
|
probably null |
Het |
| Muc16 |
T |
C |
9: 18,570,330 (GRCm39) |
T730A |
unknown |
Het |
| Nup88 |
T |
C |
11: 70,856,581 (GRCm39) |
E184G |
probably benign |
Het |
| Omt2b |
T |
C |
9: 78,235,543 (GRCm39) |
F27L |
possibly damaging |
Het |
| Or10g3 |
A |
T |
14: 52,609,748 (GRCm39) |
V254E |
probably damaging |
Het |
| Or2a7 |
A |
G |
6: 43,151,369 (GRCm39) |
I150V |
probably benign |
Het |
| Or2y13 |
A |
G |
11: 49,415,072 (GRCm39) |
N174S |
probably damaging |
Het |
| Or4a15 |
G |
A |
2: 89,193,363 (GRCm39) |
R137* |
probably null |
Het |
| Or6c69b |
T |
C |
10: 129,627,254 (GRCm39) |
E68G |
probably damaging |
Het |
| Peg10 |
T |
TCCC |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pigf |
G |
A |
17: 87,304,967 (GRCm39) |
A192V |
probably damaging |
Het |
| Pikfyve |
T |
C |
1: 65,292,691 (GRCm39) |
|
probably null |
Het |
| Ppat |
A |
T |
5: 77,066,061 (GRCm39) |
Y352* |
probably null |
Het |
| Rapgef6 |
T |
G |
11: 54,517,164 (GRCm39) |
|
probably null |
Het |
| Rrp15 |
A |
T |
1: 186,481,373 (GRCm39) |
S45T |
probably benign |
Het |
| Sap18 |
A |
G |
14: 58,035,771 (GRCm39) |
E30G |
probably damaging |
Het |
| Snx6 |
G |
T |
12: 54,793,813 (GRCm39) |
A284E |
possibly damaging |
Het |
| Tm4sf4 |
T |
A |
3: 57,333,112 (GRCm39) |
I26N |
probably damaging |
Het |
| Ttl |
G |
A |
2: 128,931,041 (GRCm39) |
A335T |
probably damaging |
Het |
| Vmn2r87 |
C |
T |
10: 130,314,291 (GRCm39) |
|
probably null |
Het |
| Zfp74 |
G |
A |
7: 29,635,201 (GRCm39) |
T169I |
probably benign |
Het |
| Zfp937 |
A |
T |
2: 150,080,261 (GRCm39) |
H97L |
possibly damaging |
Het |
| Zzef1 |
G |
T |
11: 72,813,938 (GRCm39) |
E2842D |
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 |
|
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAAAGCTGGTTGTGACTTG -3'
(R):5'- TGCCACTTCCATTTCATGAGTG -3'
Sequencing Primer
(F):5'- GACTTGTTAGCTTCTACCACAAATGC -3'
(R):5'- ACTTCCATTTCATGAGTGGATCATTC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation