Incidental Mutation 'R4396:Traf5'
| ID |
325474 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Traf5
|
| Ensembl Gene |
ENSMUSG00000026637 |
| Gene Name |
TNF receptor-associated factor 5 |
| Synonyms |
|
| MMRRC Submission |
041129-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4396 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
191729166-191776868 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 191729806 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 415
(V415E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082710
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085573]
|
| AlphaFold |
P70191 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085573
AA Change: V415E
PolyPhen 2
Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000082710
Gene: ENSMUSG00000026637
AA Change: V415E
| 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: V112E
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194408
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195647
|
| Meta Mutation Damage Score |
0.2198 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
98% (52/53) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
T |
C |
7: 119,195,143 (GRCm39) |
F552L |
probably damaging |
Het |
| Actn2 |
A |
G |
13: 12,325,765 (GRCm39) |
L70P |
probably damaging |
Het |
| Btbd7 |
A |
G |
12: 102,751,552 (GRCm39) |
S1071P |
probably benign |
Het |
| Cd200r1 |
T |
A |
16: 44,586,417 (GRCm39) |
W16R |
probably benign |
Het |
| Cdhr2 |
A |
G |
13: 54,863,478 (GRCm39) |
N120D |
probably damaging |
Het |
| Col19a1 |
T |
C |
1: 24,549,947 (GRCm39) |
T317A |
unknown |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dmbt1 |
T |
C |
7: 130,718,361 (GRCm39) |
L1683P |
probably damaging |
Het |
| Dynll1 |
A |
T |
5: 115,438,700 (GRCm39) |
C2S |
probably benign |
Het |
| Elp2 |
T |
A |
18: 24,742,707 (GRCm39) |
S80T |
probably damaging |
Het |
| Fat1 |
T |
A |
8: 45,405,383 (GRCm39) |
N711K |
probably damaging |
Het |
| Fzd3 |
A |
G |
14: 65,473,054 (GRCm39) |
I238T |
probably damaging |
Het |
| Galnt7 |
A |
T |
8: 57,991,215 (GRCm39) |
F432I |
probably damaging |
Het |
| Gemin5 |
T |
A |
11: 58,030,375 (GRCm39) |
T817S |
probably benign |
Het |
| Gm5414 |
T |
G |
15: 101,534,101 (GRCm39) |
E294A |
probably damaging |
Het |
| H2-T5 |
C |
A |
17: 36,472,861 (GRCm39) |
|
probably benign |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Kcnj4 |
C |
A |
15: 79,368,874 (GRCm39) |
A369S |
probably benign |
Het |
| Llgl1 |
T |
C |
11: 60,596,834 (GRCm39) |
V145A |
probably benign |
Het |
| Mdga1 |
T |
C |
17: 30,069,491 (GRCm39) |
D185G |
probably damaging |
Het |
| Mettl2 |
A |
G |
11: 105,017,604 (GRCm39) |
D38G |
probably damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,360,431 (GRCm39) |
R328C |
probably damaging |
Het |
| Mpp4 |
T |
C |
1: 59,183,961 (GRCm39) |
I260V |
possibly damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,651,220 (GRCm39) |
E1112G |
probably damaging |
Het |
| Mtus2 |
T |
A |
5: 148,140,748 (GRCm39) |
N871K |
possibly damaging |
Het |
| Mylk |
C |
T |
16: 34,732,645 (GRCm39) |
Q642* |
probably null |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Or4f57 |
A |
G |
2: 111,790,560 (GRCm39) |
I286T |
probably damaging |
Het |
| Pdzd2 |
A |
T |
15: 12,387,732 (GRCm39) |
D875E |
probably benign |
Het |
| Piezo1 |
G |
T |
8: 123,225,413 (GRCm39) |
T557K |
probably damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Plxnb1 |
T |
C |
9: 108,929,291 (GRCm39) |
V49A |
possibly damaging |
Het |
| Pramel6 |
A |
T |
2: 87,338,874 (GRCm39) |
I25F |
probably damaging |
Het |
| Rreb1 |
C |
T |
13: 38,114,419 (GRCm39) |
Q593* |
probably null |
Het |
| Scn8a |
A |
G |
15: 100,870,711 (GRCm39) |
N254S |
probably damaging |
Het |
| Scnn1g |
T |
G |
7: 121,339,650 (GRCm39) |
S150A |
probably benign |
Het |
| Sec24a |
A |
G |
11: 51,605,991 (GRCm39) |
F686L |
possibly damaging |
Het |
| Sirt1 |
T |
C |
10: 63,157,777 (GRCm39) |
T546A |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Traip |
C |
G |
9: 107,836,686 (GRCm39) |
T110S |
probably benign |
Het |
| Treml2 |
T |
C |
17: 48,615,142 (GRCm39) |
V209A |
probably benign |
Het |
| Trpv5 |
T |
C |
6: 41,634,830 (GRCm39) |
S500G |
probably benign |
Het |
| Usp32 |
G |
A |
11: 84,944,801 (GRCm39) |
L296F |
probably benign |
Het |
| Vmn2r79 |
A |
G |
7: 86,651,099 (GRCm39) |
H166R |
possibly damaging |
Het |
| Zswim1 |
A |
G |
2: 164,667,369 (GRCm39) |
D207G |
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 |
|
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'- GTCCAAAAGCATCAGGGTCAC -3'
(R):5'- GGTAGTGCTCAGATGACAGG -3'
Sequencing Primer
(F):5'- GGTCACCCTCTGCCTGAAC -3'
(R):5'- TCAGATGACAGGCCCGAG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation