Incidental Mutation 'R2301:Traf5'
| ID |
244410 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Traf5
|
| Ensembl Gene |
ENSMUSG00000026637 |
| Gene Name |
TNF receptor-associated factor 5 |
| Synonyms |
|
| MMRRC Submission |
040300-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2301 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
191729166-191776868 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 191729926 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 375
(N375S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082710
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085573]
|
| AlphaFold |
P70191 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085573
AA Change: N375S
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000082710
Gene: ENSMUSG00000026637
AA Change: N375S
| 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: N72S
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194408
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195647
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Catsper1 |
A |
G |
19: 5,390,426 (GRCm39) |
K602E |
probably benign |
Het |
| Chst13 |
A |
T |
6: 90,295,271 (GRCm39) |
S47R |
probably damaging |
Het |
| Clrn1 |
T |
G |
3: 58,753,773 (GRCm39) |
Y196S |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 47,595,394 (GRCm39) |
S2022P |
probably damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,354,606 (GRCm39) |
F3123I |
probably damaging |
Het |
| Dpp9 |
C |
T |
17: 56,501,973 (GRCm39) |
E532K |
probably benign |
Het |
| Eif4g3 |
T |
A |
4: 137,899,970 (GRCm39) |
D970E |
probably damaging |
Het |
| Fam222b |
T |
C |
11: 78,045,369 (GRCm39) |
V310A |
probably damaging |
Het |
| Gm16380 |
A |
G |
9: 53,791,484 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf2a1l |
G |
T |
17: 89,018,900 (GRCm39) |
R328L |
probably benign |
Het |
| Hectd4 |
T |
A |
5: 121,491,600 (GRCm39) |
F3679L |
probably benign |
Het |
| Itgb8 |
T |
C |
12: 119,166,190 (GRCm39) |
I114V |
probably benign |
Het |
| Klf10 |
A |
G |
15: 38,297,326 (GRCm39) |
V223A |
possibly damaging |
Het |
| Lyn |
G |
A |
4: 3,780,959 (GRCm39) |
R345H |
probably damaging |
Het |
| Med13l |
T |
A |
5: 118,731,512 (GRCm39) |
C63S |
probably damaging |
Het |
| Nlrp1a |
T |
C |
11: 70,996,927 (GRCm39) |
T960A |
possibly damaging |
Het |
| Ogfod1 |
C |
T |
8: 94,763,996 (GRCm39) |
S27L |
probably damaging |
Het |
| Or4k51 |
T |
A |
2: 111,584,621 (GRCm39) |
V9E |
probably benign |
Het |
| Pcdha1 |
A |
G |
18: 37,289,236 (GRCm39) |
Y864C |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,793,586 (GRCm39) |
K1758E |
probably benign |
Het |
| Polk |
T |
C |
13: 96,620,652 (GRCm39) |
E516G |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slco5a1 |
C |
T |
1: 12,949,486 (GRCm39) |
G635S |
probably damaging |
Het |
| Sptbn2 |
G |
A |
19: 4,784,166 (GRCm39) |
R636Q |
probably benign |
Het |
| Tmem139 |
G |
T |
6: 42,240,364 (GRCm39) |
C57F |
possibly damaging |
Het |
| Tti2 |
T |
C |
8: 31,645,823 (GRCm39) |
V379A |
probably benign |
Het |
| Zfp106 |
T |
C |
2: 120,366,131 (GRCm39) |
E92G |
probably benign |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAGCAGCGAGTCAAACTC -3'
(R):5'- ATCCATGTCTGCTTGGCGTC -3'
Sequencing Primer
(F):5'- TACAGGGACAGGTGCGTTC -3'
(R):5'- CGTCAGCTTACCACGATTGAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation