Incidental Mutation 'IGL02262:Traf5'
| ID |
286794 |
| 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 # |
IGL02262
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
191729166-191776868 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 191729636 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 472
(F472L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082710
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085573]
|
| AlphaFold |
P70191 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085573
AA Change: F472L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082710
Gene: ENSMUSG00000026637
AA Change: F472L
| 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: F169L
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194408
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195647
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
G |
T |
10: 14,317,140 (GRCm39) |
A560E |
probably benign |
Het |
| Apol7c |
A |
T |
15: 77,410,013 (GRCm39) |
M311K |
probably benign |
Het |
| Arap2 |
A |
C |
5: 62,800,184 (GRCm39) |
V1281G |
probably damaging |
Het |
| Cacna1s |
C |
T |
1: 136,035,867 (GRCm39) |
T1388I |
probably damaging |
Het |
| Dcaf13 |
T |
C |
15: 38,982,102 (GRCm39) |
|
probably benign |
Het |
| Dscaml1 |
G |
A |
9: 45,656,414 (GRCm39) |
G1585S |
probably benign |
Het |
| Dscaml1 |
G |
A |
9: 45,643,378 (GRCm39) |
V1266I |
probably benign |
Het |
| Epc1 |
A |
G |
18: 6,437,278 (GRCm39) |
L750P |
probably damaging |
Het |
| Fgd6 |
T |
A |
10: 93,961,490 (GRCm39) |
M1108K |
probably damaging |
Het |
| Gm14496 |
T |
C |
2: 181,637,805 (GRCm39) |
I293T |
probably damaging |
Het |
| Gm21759 |
T |
C |
5: 8,230,747 (GRCm39) |
|
probably benign |
Het |
| Igkv3-10 |
A |
T |
6: 70,550,154 (GRCm39) |
D100V |
possibly damaging |
Het |
| Ipo13 |
A |
C |
4: 117,761,010 (GRCm39) |
I569M |
probably damaging |
Het |
| Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
| Kif26b |
A |
G |
1: 178,743,633 (GRCm39) |
Y1243C |
probably benign |
Het |
| Map3k12 |
T |
C |
15: 102,410,510 (GRCm39) |
E489G |
probably damaging |
Het |
| Mtcl2 |
A |
T |
2: 156,872,826 (GRCm39) |
V895E |
probably damaging |
Het |
| Nrxn1 |
A |
G |
17: 91,011,636 (GRCm39) |
V331A |
probably damaging |
Het |
| Ntrk1 |
G |
A |
3: 87,689,104 (GRCm39) |
L529F |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,919,359 (GRCm39) |
C6882S |
possibly damaging |
Het |
| Or14j5 |
A |
C |
17: 38,162,154 (GRCm39) |
T224P |
probably damaging |
Het |
| Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
| Ppp1r13b |
C |
A |
12: 111,801,645 (GRCm39) |
L346F |
possibly damaging |
Het |
| Psg22 |
T |
C |
7: 18,458,496 (GRCm39) |
S396P |
probably damaging |
Het |
| Rbm19 |
A |
G |
5: 120,281,470 (GRCm39) |
E797G |
probably damaging |
Het |
| Ros1 |
T |
G |
10: 52,055,065 (GRCm39) |
D79A |
probably damaging |
Het |
| Scn10a |
C |
T |
9: 119,487,499 (GRCm39) |
V612I |
possibly damaging |
Het |
| Sema4c |
A |
G |
1: 36,589,422 (GRCm39) |
V568A |
probably damaging |
Het |
| Trim30b |
C |
T |
7: 104,015,107 (GRCm39) |
V94M |
probably damaging |
Het |
| Wasl |
A |
T |
6: 24,619,186 (GRCm39) |
S445T |
unknown |
Het |
| Zfp541 |
A |
G |
7: 15,813,620 (GRCm39) |
K758E |
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 |
|
|
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 |
|
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