Incidental Mutation 'R6905:Traf4'
| ID |
538745 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Traf4
|
| Ensembl Gene |
ENSMUSG00000017386 |
| Gene Name |
TNF receptor associated factor 4 |
| Synonyms |
msp2, CART1, A530032M13Rik |
| MMRRC Submission |
044997-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.927)
|
| Stock # |
R6905 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
78049325-78056415 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 78051268 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 296
(R296Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000017530
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017530]
[ENSMUST00000073705]
[ENSMUST00000100782]
[ENSMUST00000155571]
|
| AlphaFold |
Q61382 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017530
AA Change: R296Q
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000017530
Gene: ENSMUSG00000017386
AA Change: R296Q
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
18 |
57 |
1.41e-4 |
SMART |
|
Pfam:zf-TRAF
|
102 |
156 |
3.4e-19 |
PFAM |
|
Pfam:zf-TRAF
|
156 |
210 |
4e-12 |
PFAM |
|
Pfam:zf-TRAF
|
210 |
269 |
4.2e-23 |
PFAM |
|
low complexity region
|
287 |
302 |
N/A |
INTRINSIC |
|
MATH
|
312 |
445 |
1.04e-20 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073705
|
| SMART Domains |
Protein: ENSMUSP00000073384
Gene: ENSMUSG00000037750
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM222A
|
27 |
562 |
5.6e-233 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100782
|
| SMART Domains |
Protein: ENSMUSP00000126620
Gene: ENSMUSG00000037750
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM222A
|
1 |
434 |
1.9e-157 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155571
|
| SMART Domains |
Protein: ENSMUSP00000121832
Gene: ENSMUSG00000037750
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM222A
|
27 |
562 |
3.2e-259 |
PFAM |
|
| Meta Mutation Damage Score |
0.0925 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.8%
|
| Validation Efficiency |
98% (44/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the TNF receptor associated factor (TRAF) family. TRAF proteins are associated with, and mediate signal transduction from members of the TNF receptor superfamily. The encoded protein has been shown to interact with neurotrophin receptor, p75 (NTR/NTSR1), and negatively regulate NTR induced cell death and NF-kappa B activation. This protein has been found to bind to p47phox, a cytosolic regulatory factor included in a multi-protein complex known as NAD(P)H oxidase. This protein thus, is thought to be involved in the oxidative activation of MAPK8/JNK. Alternatively spliced transcript variants have been observed but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations show respiratory problems, various skeletal defects, spina bifida and partial lethality around embryonic day 14. Homozygotes for an ENU-induced mutation exhibit postnatal lethality and hypopigmentation. [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 |
|---|
| 1700025G04Rik |
G |
T |
1: 151,856,189 (GRCm39) |
N59K |
probably damaging |
Het |
| Abi3bp |
A |
G |
16: 56,394,880 (GRCm39) |
D196G |
probably damaging |
Het |
| Ankrd44 |
A |
G |
1: 54,831,653 (GRCm39) |
F50S |
probably damaging |
Het |
| Arid4a |
C |
T |
12: 71,108,318 (GRCm39) |
A41V |
probably benign |
Het |
| Cdk11b |
A |
T |
4: 155,726,065 (GRCm39) |
|
probably benign |
Het |
| Chrm5 |
C |
A |
2: 112,309,901 (GRCm39) |
C405F |
probably benign |
Het |
| Cimip2a |
A |
G |
2: 25,110,491 (GRCm39) |
I100V |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,937,517 (GRCm39) |
|
probably null |
Het |
| Copb1 |
A |
C |
7: 113,853,125 (GRCm39) |
I24S |
probably benign |
Het |
| Ctsh |
A |
T |
9: 89,944,819 (GRCm39) |
K83N |
probably damaging |
Het |
| Dgkd |
A |
G |
1: 87,863,097 (GRCm39) |
E48G |
probably damaging |
Het |
| Dis3l2 |
A |
G |
1: 86,972,561 (GRCm39) |
T657A |
probably benign |
Het |
| Flrt1 |
T |
A |
19: 7,072,757 (GRCm39) |
K597* |
probably null |
Het |
| Ifit1bl2 |
T |
C |
19: 34,596,990 (GRCm39) |
S209G |
possibly damaging |
Het |
| Ifrd2 |
T |
C |
9: 107,465,089 (GRCm39) |
M1T |
probably null |
Het |
| Ighv8-12 |
T |
C |
12: 115,611,705 (GRCm39) |
Y73C |
probably benign |
Het |
| Klhl21 |
C |
A |
4: 152,094,184 (GRCm39) |
A262E |
probably benign |
Het |
| L3mbtl4 |
A |
T |
17: 69,084,883 (GRCm39) |
Y598F |
probably benign |
Het |
| Lad1 |
A |
G |
1: 135,755,618 (GRCm39) |
K298R |
probably benign |
Het |
| Map2k2 |
A |
G |
10: 80,944,701 (GRCm39) |
D71G |
probably damaging |
Het |
| Megf8 |
T |
A |
7: 25,037,357 (GRCm39) |
H752Q |
probably benign |
Het |
| Mms22l |
A |
T |
4: 24,503,107 (GRCm39) |
M200L |
probably benign |
Het |
| Mup5 |
C |
A |
4: 61,751,340 (GRCm39) |
D103Y |
possibly damaging |
Het |
| Nes |
C |
T |
3: 87,885,985 (GRCm39) |
P1371S |
probably damaging |
Het |
| Or4c10b |
A |
T |
2: 89,712,052 (GRCm39) |
D294V |
probably benign |
Het |
| Or4f14c |
A |
T |
2: 111,940,703 (GRCm39) |
M298K |
probably damaging |
Het |
| Or52z14 |
A |
T |
7: 103,253,574 (GRCm39) |
T238S |
probably benign |
Het |
| Osbpl3 |
T |
C |
6: 50,328,862 (GRCm39) |
I114V |
probably damaging |
Het |
| Pank3 |
T |
C |
11: 35,667,239 (GRCm39) |
Y119H |
probably benign |
Het |
| Pcdhb15 |
C |
T |
18: 37,607,748 (GRCm39) |
L327F |
possibly damaging |
Het |
| Pnpla8 |
T |
C |
12: 44,330,336 (GRCm39) |
V78A |
probably damaging |
Het |
| Rbm14 |
A |
G |
19: 4,853,264 (GRCm39) |
|
probably benign |
Het |
| Rev3l |
G |
A |
10: 39,693,323 (GRCm39) |
V468M |
probably benign |
Het |
| Ripk1 |
A |
G |
13: 34,211,973 (GRCm39) |
I428V |
probably benign |
Het |
| Rps5 |
T |
C |
7: 12,659,785 (GRCm39) |
V147A |
probably damaging |
Het |
| Rps6ka2 |
T |
A |
17: 7,495,340 (GRCm39) |
I9N |
probably damaging |
Het |
| Samd9l |
A |
T |
6: 3,375,387 (GRCm39) |
F625I |
probably damaging |
Het |
| Sh3bp1 |
A |
G |
15: 78,789,230 (GRCm39) |
D196G |
probably benign |
Het |
| Slc66a1 |
A |
G |
4: 139,033,752 (GRCm39) |
|
probably null |
Het |
| Smg7 |
A |
T |
1: 152,725,757 (GRCm39) |
|
probably null |
Het |
| Stap1 |
G |
A |
5: 86,238,781 (GRCm39) |
E150K |
possibly damaging |
Het |
| Ticrr |
T |
C |
7: 79,315,598 (GRCm39) |
I284T |
probably benign |
Het |
| Tm4sf1 |
T |
C |
3: 57,202,330 (GRCm39) |
|
probably benign |
Het |
| Trav7d-4 |
G |
T |
14: 53,007,770 (GRCm39) |
A88S |
possibly damaging |
Het |
| Vwde |
T |
C |
6: 13,205,926 (GRCm39) |
E207G |
probably damaging |
Het |
|
| Other mutations in Traf4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01351:Traf4
|
APN |
11 |
78,056,226 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01354:Traf4
|
APN |
11 |
78,056,226 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01361:Traf4
|
APN |
11 |
78,056,226 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01375:Traf4
|
APN |
11 |
78,050,908 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01991:Traf4
|
APN |
11 |
78,050,872 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02243:Traf4
|
APN |
11 |
78,051,343 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02800:Traf4
|
APN |
11 |
78,051,061 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02883:Traf4
|
APN |
11 |
78,052,447 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
PIT4453001:Traf4
|
UTSW |
11 |
78,052,360 (GRCm39) |
missense |
probably benign |
|
|
R2104:Traf4
|
UTSW |
11 |
78,050,840 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2199:Traf4
|
UTSW |
11 |
78,050,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2298:Traf4
|
UTSW |
11 |
78,051,677 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2351:Traf4
|
UTSW |
11 |
78,051,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4547:Traf4
|
UTSW |
11 |
78,051,863 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4854:Traf4
|
UTSW |
11 |
78,052,346 (GRCm39) |
nonsense |
probably null |
|
|
R6907:Traf4
|
UTSW |
11 |
78,051,268 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7384:Traf4
|
UTSW |
11 |
78,051,617 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9051:Traf4
|
UTSW |
11 |
78,052,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9205:Traf4
|
UTSW |
11 |
78,051,927 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9593:Traf4
|
UTSW |
11 |
78,056,253 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9790:Traf4
|
UTSW |
11 |
78,050,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9791:Traf4
|
UTSW |
11 |
78,050,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCGTTGAGGAATGCAGACAC -3'
(R):5'- GTCCTGCTAGTCAACTCCTG -3'
Sequencing Primer
(F):5'- AGACACCTGCAGCTTGTAG -3'
(R):5'- TCCTGTGGAACTAGGTGCC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation