Incidental Mutation 'IGL02933:Traf1'
| ID |
364185 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Traf1
|
| Ensembl Gene |
ENSMUSG00000026875 |
| Gene Name |
TNF receptor-associated factor 1 |
| Synonyms |
4732496E14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.116)
|
| Stock # |
IGL02933
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
34831762-34851784 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 34839107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 73
(D73Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028234]
[ENSMUST00000113064]
[ENSMUST00000172159]
|
| AlphaFold |
P39428 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028234
AA Change: D73Y
PolyPhen 2
Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000028234
Gene: ENSMUSG00000026875
AA Change: D73Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TRAF_BIRC3_bd
|
175 |
238 |
8.4e-19 |
PFAM |
|
MATH
|
264 |
386 |
8.29e-20 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113064
AA Change: D73Y
PolyPhen 2
Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000108687
Gene: ENSMUSG00000026875
AA Change: D73Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
174 |
187 |
N/A |
INTRINSIC |
|
MATH
|
264 |
386 |
8.29e-20 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129131
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172159
AA Change: D73Y
PolyPhen 2
Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000130759
Gene: ENSMUSG00000026875
AA Change: D73Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
174 |
187 |
N/A |
INTRINSIC |
|
MATH
|
264 |
386 |
8.29e-20 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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 (TNFR) associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the signal transduction from various receptors of the TNFR superfamily. This protein and TRAF2 form a heterodimeric complex, which is required for TNF-alpha-mediated activation of MAPK8/JNK and NF-kappaB. The protein complex formed by this protein and TRAF2 also interacts with inhibitor-of-apoptosis proteins (IAPs), and thus mediates the anti-apoptotic signals from TNF receptors. The expression of this protein can be induced by Epstein-Barr virus (EBV). EBV infection membrane protein 1 (LMP1) is found to interact with this and other TRAF proteins; this interaction is thought to link LMP1-mediated B lymphocyte transformation to the signal transduction from TNFR family receptors. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
PHENOTYPE: Homozygous null mice exhibit abnormal T cell functionality. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(6) : Targeted, knock-out(1) Gene trapped(5) |
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700008O03Rik |
G |
T |
7: 44,012,436 (GRCm39) |
S24Y |
possibly damaging |
Het |
| Adam15 |
T |
C |
3: 89,250,790 (GRCm39) |
T609A |
possibly damaging |
Het |
| Ank1 |
C |
T |
8: 23,612,881 (GRCm39) |
T1485I |
possibly damaging |
Het |
| Bbof1 |
A |
G |
12: 84,473,740 (GRCm39) |
N357D |
probably damaging |
Het |
| Btn1a1 |
A |
G |
13: 23,644,697 (GRCm39) |
F267S |
possibly damaging |
Het |
| C2cd2 |
A |
T |
16: 97,693,401 (GRCm39) |
F157I |
probably benign |
Het |
| Cd55 |
T |
C |
1: 130,380,261 (GRCm39) |
E239G |
probably damaging |
Het |
| Cnpy1 |
T |
A |
5: 28,412,119 (GRCm39) |
H138L |
probably benign |
Het |
| Cpne4 |
T |
C |
9: 104,896,966 (GRCm39) |
V373A |
possibly damaging |
Het |
| Dlg5 |
A |
T |
14: 24,208,567 (GRCm39) |
S880T |
probably benign |
Het |
| Etv1 |
C |
T |
12: 38,831,832 (GRCm39) |
T27I |
probably benign |
Het |
| Fam227b |
T |
A |
2: 125,965,908 (GRCm39) |
|
probably null |
Het |
| Flcn |
T |
C |
11: 59,694,583 (GRCm39) |
S130G |
probably damaging |
Het |
| Flvcr2 |
T |
C |
12: 85,849,902 (GRCm39) |
|
probably benign |
Het |
| Git1 |
C |
A |
11: 77,391,902 (GRCm39) |
H241Q |
probably damaging |
Het |
| Gm14496 |
T |
A |
2: 181,642,256 (GRCm39) |
H642Q |
probably benign |
Het |
| Idh1 |
C |
T |
1: 65,201,072 (GRCm39) |
S293N |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,214,402 (GRCm39) |
S1449P |
probably benign |
Het |
| Mmel1 |
T |
A |
4: 154,968,087 (GRCm39) |
L141Q |
probably damaging |
Het |
| Morn4 |
A |
G |
19: 42,064,661 (GRCm39) |
I109T |
probably benign |
Het |
| Mrgprh |
T |
C |
17: 13,096,596 (GRCm39) |
Y279H |
probably damaging |
Het |
| Or1ak2 |
T |
A |
2: 36,827,310 (GRCm39) |
Y60N |
probably damaging |
Het |
| Osbpl8 |
T |
C |
10: 111,117,991 (GRCm39) |
I578T |
probably damaging |
Het |
| Reg2 |
A |
G |
6: 78,384,917 (GRCm39) |
Y153C |
probably damaging |
Het |
| Sall2 |
T |
C |
14: 52,550,484 (GRCm39) |
S902G |
probably benign |
Het |
| Sesn3 |
C |
T |
9: 14,232,504 (GRCm39) |
T259M |
probably damaging |
Het |
| Trnt1 |
G |
A |
6: 106,750,387 (GRCm39) |
G97D |
probably benign |
Het |
| Ttll11 |
T |
C |
2: 35,869,422 (GRCm39) |
H72R |
probably benign |
Het |
| Txndc12 |
T |
C |
4: 108,715,193 (GRCm39) |
|
probably null |
Het |
| Zan |
C |
A |
5: 137,426,676 (GRCm39) |
S2490I |
unknown |
Het |
| Zfp955a |
T |
C |
17: 33,462,683 (GRCm39) |
|
probably null |
Het |
| Zfyve26 |
A |
C |
12: 79,326,854 (GRCm39) |
S756R |
possibly damaging |
Het |
| Zmynd8 |
T |
C |
2: 165,670,238 (GRCm39) |
N412S |
possibly damaging |
Het |
|
| Other mutations in Traf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01979:Traf1
|
APN |
2 |
34,833,905 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01993:Traf1
|
APN |
2 |
34,836,879 (GRCm39) |
splice site |
probably benign |
|
|
IGL02429:Traf1
|
APN |
2 |
34,839,115 (GRCm39) |
missense |
probably benign |
|
|
IGL02752:Traf1
|
APN |
2 |
34,848,020 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03346:Traf1
|
APN |
2 |
34,838,484 (GRCm39) |
missense |
probably benign |
0.01 |
|
3-1:Traf1
|
UTSW |
2 |
34,839,118 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0220:Traf1
|
UTSW |
2 |
34,839,115 (GRCm39) |
missense |
probably benign |
|
|
R2064:Traf1
|
UTSW |
2 |
34,838,202 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4458:Traf1
|
UTSW |
2 |
34,835,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4797:Traf1
|
UTSW |
2 |
34,846,289 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5398:Traf1
|
UTSW |
2 |
34,835,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6221:Traf1
|
UTSW |
2 |
34,838,313 (GRCm39) |
missense |
probably benign |
0.45 |
|
R6584:Traf1
|
UTSW |
2 |
34,848,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6792:Traf1
|
UTSW |
2 |
34,846,287 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7350:Traf1
|
UTSW |
2 |
34,838,245 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8331:Traf1
|
UTSW |
2 |
34,838,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9443:Traf1
|
UTSW |
2 |
34,836,748 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9470:Traf1
|
UTSW |
2 |
34,833,974 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Traf1
|
UTSW |
2 |
34,835,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation