Incidental Mutation 'R4645:Traf3'
| ID |
350182 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Traf3
|
| Ensembl Gene |
ENSMUSG00000021277 |
| Gene Name |
TNF receptor-associated factor 3 |
| Synonyms |
CAP-1, CRAF1, CD40bp, LAP1 |
| MMRRC Submission |
041906-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4645 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
111132804-111233587 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 111228400 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 537
(V537A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021706
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021706]
[ENSMUST00000060274]
[ENSMUST00000117269]
|
| AlphaFold |
Q60803 |
| PDB Structure |
Crystal structure of TRAF3/Cardif [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021706
AA Change: V537A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000021706
Gene: ENSMUSG00000021277
AA Change: V537A
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
52 |
87 |
5.85e-2 |
SMART |
|
Pfam:zf-TRAF
|
135 |
191 |
4.6e-18 |
PFAM |
|
Pfam:zf-TRAF
|
191 |
250 |
9.9e-14 |
PFAM |
|
coiled coil region
|
298 |
337 |
N/A |
INTRINSIC |
|
MATH
|
419 |
542 |
5.69e-18 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060274
AA Change: V512A
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000058361
Gene: ENSMUSG00000021277
AA Change: V512A
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
52 |
87 |
5.85e-2 |
SMART |
|
Pfam:zf-TRAF
|
135 |
191 |
1.5e-17 |
PFAM |
|
coiled coil region
|
273 |
312 |
N/A |
INTRINSIC |
|
MATH
|
394 |
517 |
5.69e-18 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117269
AA Change: V512A
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000112517
Gene: ENSMUSG00000021277
AA Change: V512A
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
52 |
87 |
5.85e-2 |
SMART |
|
Pfam:zf-TRAF
|
135 |
191 |
1.5e-17 |
PFAM |
|
coiled coil region
|
273 |
312 |
N/A |
INTRINSIC |
|
MATH
|
394 |
517 |
5.69e-18 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143395
|
| Meta Mutation Damage Score |
0.3205 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
98% (53/54) |
| 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 (TNFR) superfamily. This protein participates in the signal transduction of CD40, a TNFR family member important for the activation of the immune response. This protein is found to be a critical component of the lymphotoxin-beta receptor (LTbetaR) signaling complex, which induces NF-kappaB activation and cell death initiated by LTbeta ligation. Epstein-Barr virus encoded latent infection membrane protein-1 (LMP1) can interact with this and several other members of the TRAF family, which may be essential for the oncogenic effects of LMP1. Several alternatively spliced transcript variants encoding three distinct isoforms have been reported. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygous mutation of this gene results in progressive runting, hypoglycemia, and depletion of peripheral white blood cells, leading to death by 10 days of age. Immune responses to T-dependent antigen are impaired in lethally irradiated mice reconstituted with mutant cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
T |
C |
17: 46,635,700 (GRCm39) |
E101G |
probably damaging |
Het |
| Adgrf5 |
A |
G |
17: 43,748,416 (GRCm39) |
E29G |
probably damaging |
Het |
| Agfg2 |
T |
A |
5: 137,682,854 (GRCm39) |
|
probably benign |
Het |
| Ap4b1 |
A |
G |
3: 103,728,765 (GRCm39) |
S468G |
probably benign |
Het |
| AY702103 |
G |
T |
17: 50,546,941 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc14 |
T |
C |
16: 34,542,110 (GRCm39) |
L536S |
probably damaging |
Het |
| Ccr9 |
G |
T |
9: 123,608,658 (GRCm39) |
M101I |
probably benign |
Het |
| Celsr1 |
A |
T |
15: 85,800,957 (GRCm39) |
V2496E |
probably benign |
Het |
| Celsr2 |
C |
A |
3: 108,303,285 (GRCm39) |
G2486V |
probably damaging |
Het |
| Cntnap3 |
A |
G |
13: 64,926,602 (GRCm39) |
|
probably null |
Het |
| Erlin1 |
T |
C |
19: 44,057,759 (GRCm39) |
Y22C |
probably damaging |
Het |
| Fam135b |
T |
C |
15: 71,334,189 (GRCm39) |
T1002A |
probably benign |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Glud1 |
T |
C |
14: 34,033,063 (GRCm39) |
V70A |
probably damaging |
Het |
| Hdlbp |
A |
G |
1: 93,349,842 (GRCm39) |
|
probably benign |
Het |
| Immt |
T |
C |
6: 71,833,923 (GRCm39) |
L184P |
probably damaging |
Het |
| Iqsec1 |
T |
G |
6: 90,644,995 (GRCm39) |
K983T |
probably damaging |
Het |
| Klhl6 |
A |
T |
16: 19,765,897 (GRCm39) |
N568K |
probably damaging |
Het |
| Lbhd1 |
T |
G |
19: 8,861,452 (GRCm39) |
|
probably benign |
Het |
| Lrit2 |
C |
T |
14: 36,794,432 (GRCm39) |
R499C |
probably benign |
Het |
| Lrp6 |
T |
C |
6: 134,461,213 (GRCm39) |
D748G |
probably damaging |
Het |
| Lrriq4 |
A |
G |
3: 30,704,892 (GRCm39) |
K292E |
probably benign |
Het |
| Ly96 |
G |
T |
1: 16,761,940 (GRCm39) |
E49* |
probably null |
Het |
| Lztr1 |
C |
T |
16: 17,341,955 (GRCm39) |
|
probably benign |
Het |
| Mmp12 |
A |
G |
9: 7,347,515 (GRCm39) |
M31V |
probably benign |
Het |
| Mok |
A |
T |
12: 110,774,873 (GRCm39) |
|
probably benign |
Het |
| Mpi |
T |
C |
9: 57,458,040 (GRCm39) |
H54R |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Or4c101 |
T |
C |
2: 88,390,722 (GRCm39) |
I292T |
probably damaging |
Het |
| Pomt1 |
G |
T |
2: 32,132,888 (GRCm39) |
|
probably benign |
Het |
| Ptpn20 |
G |
A |
14: 33,353,169 (GRCm39) |
V303I |
probably benign |
Het |
| Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
| Shank2 |
A |
G |
7: 143,964,159 (GRCm39) |
K799R |
possibly damaging |
Het |
| Sim1 |
A |
T |
10: 50,860,093 (GRCm39) |
T652S |
probably benign |
Het |
| Slc8a2 |
C |
T |
7: 15,868,164 (GRCm39) |
T132I |
probably damaging |
Het |
| Spaca6 |
A |
T |
17: 18,056,307 (GRCm39) |
|
probably benign |
Het |
| Sympk |
G |
T |
7: 18,777,385 (GRCm39) |
R545L |
possibly damaging |
Het |
| Tenm4 |
G |
T |
7: 96,544,949 (GRCm39) |
G2322W |
probably damaging |
Het |
| Thap1 |
A |
G |
8: 26,652,597 (GRCm39) |
T135A |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,578,680 (GRCm39) |
D24071G |
probably damaging |
Het |
| Tysnd1 |
G |
T |
10: 61,531,962 (GRCm39) |
V205L |
probably benign |
Het |
| Unc79 |
T |
C |
12: 103,079,081 (GRCm39) |
S1749P |
probably benign |
Het |
| Vmn2r50 |
T |
A |
7: 9,771,162 (GRCm39) |
*846C |
probably null |
Het |
| Vmn2r74 |
C |
T |
7: 85,606,317 (GRCm39) |
S343N |
probably benign |
Het |
| Zfyve28 |
T |
G |
5: 34,379,787 (GRCm39) |
|
probably benign |
Het |
| Zmym2 |
T |
C |
14: 57,165,764 (GRCm39) |
S696P |
probably damaging |
Het |
| Zscan4e |
T |
C |
7: 11,041,002 (GRCm39) |
Y290C |
possibly damaging |
Het |
| Zswim2 |
G |
T |
2: 83,745,891 (GRCm39) |
H516N |
probably benign |
Het |
|
| Other mutations in Traf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00420:Traf3
|
APN |
12 |
111,205,501 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02015:Traf3
|
APN |
12 |
111,219,174 (GRCm39) |
missense |
probably benign |
|
|
IGL02318:Traf3
|
APN |
12 |
111,204,031 (GRCm39) |
missense |
probably benign |
|
|
IGL02429:Traf3
|
APN |
12 |
111,209,899 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL03088:Traf3
|
APN |
12 |
111,228,277 (GRCm39) |
missense |
probably damaging |
0.99 |
|
bananasplit
|
UTSW |
12 |
111,228,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Han
|
UTSW |
12 |
111,228,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Hulk
|
UTSW |
12 |
111,228,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Magnificent
|
UTSW |
12 |
111,204,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
sundae
|
UTSW |
12 |
111,221,658 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0023:Traf3
|
UTSW |
12 |
111,209,912 (GRCm39) |
nonsense |
probably null |
|
|
R0143:Traf3
|
UTSW |
12 |
111,228,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1453:Traf3
|
UTSW |
12 |
111,221,757 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1507:Traf3
|
UTSW |
12 |
111,227,194 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1651:Traf3
|
UTSW |
12 |
111,228,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1714:Traf3
|
UTSW |
12 |
111,208,907 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1996:Traf3
|
UTSW |
12 |
111,227,095 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1997:Traf3
|
UTSW |
12 |
111,227,095 (GRCm39) |
missense |
probably benign |
0.21 |
|
R3946:Traf3
|
UTSW |
12 |
111,221,679 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4477:Traf3
|
UTSW |
12 |
111,215,036 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4723:Traf3
|
UTSW |
12 |
111,228,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4820:Traf3
|
UTSW |
12 |
111,227,204 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5123:Traf3
|
UTSW |
12 |
111,209,952 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5775:Traf3
|
UTSW |
12 |
111,219,162 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5825:Traf3
|
UTSW |
12 |
111,221,795 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5912:Traf3
|
UTSW |
12 |
111,221,783 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6611:Traf3
|
UTSW |
12 |
111,204,074 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6933:Traf3
|
UTSW |
12 |
111,221,658 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7389:Traf3
|
UTSW |
12 |
111,204,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7425:Traf3
|
UTSW |
12 |
111,227,095 (GRCm39) |
nonsense |
probably null |
|
|
R8512:Traf3
|
UTSW |
12 |
111,228,426 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8705:Traf3
|
UTSW |
12 |
111,208,938 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8744:Traf3
|
UTSW |
12 |
111,228,230 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9144:Traf3
|
UTSW |
12 |
111,228,294 (GRCm39) |
missense |
probably benign |
|
|
X0052:Traf3
|
UTSW |
12 |
111,219,170 (GRCm39) |
missense |
probably benign |
0.41 |
|
Z1176:Traf3
|
UTSW |
12 |
111,228,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Traf3
|
UTSW |
12 |
111,227,926 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTACCTGAATGGGGACGGAATG -3'
(R):5'- ACCTCCGTGAAGACACTAGC -3'
Sequencing Primer
(F):5'- CATTATGCGTGGAGAATATGATGCTC -3'
(R):5'- TCCGTGAAGACACTAGCTCACC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation