Incidental Mutation 'R3607:Traf2'
| ID |
269101 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Traf2
|
| Ensembl Gene |
ENSMUSG00000026942 |
| Gene Name |
TNF receptor-associated factor 2 |
| Synonyms |
|
| MMRRC Submission |
040671-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3607 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
25407994-25436952 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25420427 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 141
(T141A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109872
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028311]
[ENSMUST00000114234]
|
| AlphaFold |
P39429 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028311
AA Change: T134A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000028311
Gene: ENSMUSG00000026942
AA Change: T134A
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
34 |
72 |
3.19e-3 |
SMART |
|
Pfam:zf-TRAF
|
178 |
235 |
1.9e-22 |
PFAM |
|
MATH
|
356 |
478 |
3.09e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114234
AA Change: T141A
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000109872
Gene: ENSMUSG00000026942
AA Change: T141A
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
34 |
79 |
3.42e-2 |
SMART |
|
Pfam:zf-TRAF
|
185 |
242 |
2.4e-23 |
PFAM |
|
Pfam:TRAF_BIRC3_bd
|
274 |
337 |
1.6e-34 |
PFAM |
|
MATH
|
363 |
485 |
3.09e-19 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151742
|
| Meta Mutation Damage Score |
0.0769 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.3%
|
| Validation Efficiency |
98% (48/49) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the TNF receptor associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the signal transduction from members of the TNF receptor superfamily. This protein directly interacts with TNF receptors, and forms a heterodimeric complex with TRAF1. This protein is required for TNF-alpha-mediated activation of MAPK8/JNK and NF-kappaB. The protein complex formed by this protein and TRAF1 interacts with the inhibitor-of-apoptosis proteins (IAPs), and functions as a mediator of the anti-apoptotic signals from TNF receptors. The interaction of this protein with TRADD, a TNF receptor associated apoptotic signal transducer, ensures the recruitment of IAPs for the direct inhibition of caspase activation. BIRC2/c-IAP1, an apoptosis inhibitor possessing ubiquitin ligase activity, can unbiquitinate and induce the degradation of this protein, and thus potentiate TNF-induced apoptosis. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of only one transcript has been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Increased lethaltiy is observed with homozygous null mice. Offspring are runted and exhibit atrophic thymii and spleens with reduced numbers of lymphocytes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930510E17Rik |
C |
A |
9: 53,191,083 (GRCm39) |
|
noncoding transcript |
Het |
| Adnp2 |
A |
T |
18: 80,172,284 (GRCm39) |
N708K |
probably damaging |
Het |
| Arhgef17 |
C |
A |
7: 100,580,379 (GRCm39) |
G190W |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,408,406 (GRCm39) |
M2431K |
probably benign |
Het |
| Aurkc |
A |
G |
7: 7,005,859 (GRCm39) |
Y157C |
probably damaging |
Het |
| Bpifb1 |
T |
A |
2: 154,053,485 (GRCm39) |
N242K |
possibly damaging |
Het |
| Cracr2b |
C |
T |
7: 141,046,059 (GRCm39) |
P370S |
possibly damaging |
Het |
| Etv1 |
A |
G |
12: 38,881,085 (GRCm39) |
Y66C |
probably damaging |
Het |
| F830016B08Rik |
A |
T |
18: 60,433,780 (GRCm39) |
K288* |
probably null |
Het |
| Fam131a |
C |
T |
16: 20,520,345 (GRCm39) |
P181L |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,172,511 (GRCm39) |
E2734V |
probably damaging |
Het |
| Fgfrl1 |
C |
A |
5: 108,853,289 (GRCm39) |
T213K |
probably damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
| Gmfg |
T |
A |
7: 28,140,961 (GRCm39) |
|
probably null |
Het |
| Gtpbp8 |
T |
C |
16: 44,564,119 (GRCm39) |
Y184C |
probably damaging |
Het |
| Heatr5b |
T |
C |
17: 79,141,646 (GRCm39) |
E2G |
probably damaging |
Het |
| Itpr2 |
T |
G |
6: 146,129,099 (GRCm39) |
T2005P |
probably damaging |
Het |
| Kmt2a |
G |
A |
9: 44,760,493 (GRCm39) |
T485M |
probably damaging |
Het |
| Kng1 |
T |
C |
16: 22,886,552 (GRCm39) |
F112L |
probably damaging |
Het |
| Kprp |
C |
A |
3: 92,731,588 (GRCm39) |
Q487H |
unknown |
Het |
| Lctl |
T |
C |
9: 64,040,475 (GRCm39) |
Y473H |
probably damaging |
Het |
| Lpin2 |
T |
A |
17: 71,536,387 (GRCm39) |
D225E |
probably damaging |
Het |
| Myom2 |
T |
C |
8: 15,119,775 (GRCm39) |
V177A |
probably damaging |
Het |
| Nkrf |
T |
G |
X: 36,153,730 (GRCm39) |
N184T |
probably benign |
Het |
| Nt5c1b |
A |
G |
12: 10,427,236 (GRCm39) |
N329D |
probably damaging |
Het |
| Ogdhl |
T |
A |
14: 32,057,318 (GRCm39) |
V308E |
probably damaging |
Het |
| Or14a258 |
A |
G |
7: 86,034,903 (GRCm39) |
C322R |
probably benign |
Het |
| Pcnx1 |
T |
A |
12: 81,975,066 (GRCm39) |
F791I |
probably damaging |
Het |
| Prkg2 |
G |
T |
5: 99,095,236 (GRCm39) |
T616K |
probably damaging |
Het |
| Psmd3 |
C |
T |
11: 98,581,780 (GRCm39) |
R302W |
probably damaging |
Het |
| Ptpn1 |
A |
G |
2: 167,817,427 (GRCm39) |
S355G |
probably benign |
Het |
| Pxdn |
A |
G |
12: 30,040,917 (GRCm39) |
N398D |
probably benign |
Het |
| Ranbp10 |
A |
G |
8: 106,502,667 (GRCm39) |
S300P |
probably benign |
Het |
| Rbl1 |
A |
T |
2: 157,019,153 (GRCm39) |
F531I |
probably damaging |
Het |
| Rgl3 |
A |
G |
9: 21,898,987 (GRCm39) |
S151P |
probably damaging |
Het |
| Rnf213 |
C |
A |
11: 119,332,802 (GRCm39) |
C2670* |
probably null |
Het |
| Tex16 |
T |
A |
X: 111,003,667 (GRCm39) |
S159T |
probably damaging |
Het |
| Tnfaip3 |
A |
G |
10: 18,881,350 (GRCm39) |
I312T |
probably damaging |
Het |
| Trpm7 |
T |
C |
2: 126,638,348 (GRCm39) |
|
probably benign |
Het |
| Usp11 |
T |
G |
X: 20,580,871 (GRCm39) |
F426L |
probably damaging |
Het |
| Vcan |
G |
T |
13: 89,851,420 (GRCm39) |
T1180K |
probably damaging |
Het |
| Wasf1 |
G |
C |
10: 40,812,380 (GRCm39) |
A390P |
unknown |
Het |
| Yif1b |
C |
T |
7: 28,937,835 (GRCm39) |
A7V |
possibly damaging |
Het |
|
| Other mutations in Traf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00156:Traf2
|
APN |
2 |
25,410,463 (GRCm39) |
nonsense |
probably null |
|
|
IGL01010:Traf2
|
APN |
2 |
25,410,450 (GRCm39) |
nonsense |
probably null |
|
|
IGL01063:Traf2
|
APN |
2 |
25,414,931 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01146:Traf2
|
APN |
2 |
25,414,931 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02114:Traf2
|
APN |
2 |
25,415,004 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02319:Traf2
|
APN |
2 |
25,426,695 (GRCm39) |
missense |
probably damaging |
0.99 |
|
accessory
|
UTSW |
2 |
25,427,100 (GRCm39) |
frame shift |
probably null |
|
|
infinitum
|
UTSW |
2 |
25,410,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
parallel
|
UTSW |
2 |
25,420,427 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0116:Traf2
|
UTSW |
2 |
25,409,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0238:Traf2
|
UTSW |
2 |
25,427,138 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0238:Traf2
|
UTSW |
2 |
25,427,138 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1741:Traf2
|
UTSW |
2 |
25,414,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3605:Traf2
|
UTSW |
2 |
25,420,427 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4940:Traf2
|
UTSW |
2 |
25,420,300 (GRCm39) |
missense |
probably null |
0.48 |
|
R5296:Traf2
|
UTSW |
2 |
25,410,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5784:Traf2
|
UTSW |
2 |
25,429,049 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7536:Traf2
|
UTSW |
2 |
25,427,118 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7639:Traf2
|
UTSW |
2 |
25,427,100 (GRCm39) |
frame shift |
probably null |
|
|
R8684:Traf2
|
UTSW |
2 |
25,410,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9650:Traf2
|
UTSW |
2 |
25,410,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Traf2
|
UTSW |
2 |
25,427,156 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAAACTTCAACCATGGCAG -3'
(R):5'- AGTGGCCTGTGTCTATACAGTG -3'
Sequencing Primer
(F):5'- CAGTAAATGCTAGGCGACTGC -3'
(R):5'- CCTGTGTCTATACAGTGGTTCTGAG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation