Incidental Mutation 'R2199:Traf4'
| ID |
238571 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Traf4
|
| Ensembl Gene |
ENSMUSG00000017386 |
| Gene Name |
TNF receptor associated factor 4 |
| Synonyms |
msp2, CART1, A530032M13Rik |
| MMRRC Submission |
040201-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.927)
|
| Stock # |
R2199 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
78049325-78056415 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78050806 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 450
(Y450C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000017530
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017530]
[ENSMUST00000073705]
[ENSMUST00000100782]
[ENSMUST00000155571]
|
| AlphaFold |
Q61382 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000017530
AA Change: Y450C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000017530
Gene: ENSMUSG00000017386
AA Change: Y450C
| 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 |
noncoding transcript
Transcript: ENSMUST00000148218
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149437
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
C |
17: 24,554,598 (GRCm39) |
I119V |
probably benign |
Het |
| Arfgap2 |
T |
A |
2: 91,096,037 (GRCm39) |
|
probably null |
Het |
| Ccm2 |
T |
C |
11: 6,540,790 (GRCm39) |
V216A |
probably damaging |
Het |
| Ctdspl2 |
T |
C |
2: 121,817,510 (GRCm39) |
|
probably null |
Het |
| Dmxl2 |
T |
C |
9: 54,283,527 (GRCm39) |
T2769A |
probably benign |
Het |
| Dnah3 |
C |
T |
7: 119,550,792 (GRCm39) |
V3165M |
possibly damaging |
Het |
| Dnajc1 |
A |
C |
2: 18,313,710 (GRCm39) |
F137C |
probably damaging |
Het |
| Gli2 |
A |
T |
1: 118,765,378 (GRCm39) |
D924E |
possibly damaging |
Het |
| Gnrhr |
T |
C |
5: 86,345,677 (GRCm39) |
N3S |
probably benign |
Het |
| Grhl1 |
G |
T |
12: 24,662,169 (GRCm39) |
R536L |
probably damaging |
Het |
| Hormad1 |
T |
C |
3: 95,475,033 (GRCm39) |
|
probably null |
Het |
| Il20 |
T |
A |
1: 130,838,476 (GRCm39) |
I74L |
probably benign |
Het |
| Ints11 |
A |
G |
4: 155,959,738 (GRCm39) |
K115R |
probably benign |
Het |
| Irx4 |
A |
T |
13: 73,413,720 (GRCm39) |
E63D |
probably benign |
Het |
| Itch |
A |
C |
2: 155,044,141 (GRCm39) |
Q482P |
probably benign |
Het |
| Kctd8 |
C |
A |
5: 69,498,588 (GRCm39) |
M19I |
probably benign |
Het |
| Klhl31 |
T |
C |
9: 77,557,383 (GRCm39) |
L33P |
probably damaging |
Het |
| Lrp1 |
A |
T |
10: 127,382,709 (GRCm39) |
C3691S |
probably damaging |
Het |
| Lrrc39 |
A |
G |
3: 116,364,610 (GRCm39) |
D167G |
probably damaging |
Het |
| Lrrd1 |
A |
T |
5: 3,916,478 (GRCm39) |
I832L |
possibly damaging |
Het |
| Lrriq1 |
A |
G |
10: 102,904,774 (GRCm39) |
V1620A |
probably damaging |
Het |
| Ltbr |
T |
C |
6: 125,289,024 (GRCm39) |
K213E |
probably benign |
Het |
| Megf8 |
T |
A |
7: 25,039,039 (GRCm39) |
D883E |
possibly damaging |
Het |
| Nherf2 |
T |
C |
17: 24,859,570 (GRCm39) |
E174G |
probably null |
Het |
| Nmt1 |
T |
A |
11: 102,954,682 (GRCm39) |
S405T |
probably damaging |
Het |
| Nsd3 |
G |
T |
8: 26,156,073 (GRCm39) |
V547F |
probably damaging |
Het |
| Or4c110 |
A |
G |
2: 88,831,894 (GRCm39) |
V246A |
probably damaging |
Het |
| Or7g16 |
C |
A |
9: 18,727,219 (GRCm39) |
V124F |
probably damaging |
Het |
| Otud7a |
A |
G |
7: 63,407,404 (GRCm39) |
K569R |
possibly damaging |
Het |
| Otud7b |
A |
G |
3: 96,063,089 (GRCm39) |
Y776C |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,006,341 (GRCm39) |
I73T |
probably damaging |
Het |
| Rnf213 |
A |
T |
11: 119,350,835 (GRCm39) |
H3890L |
probably benign |
Het |
| Sall3 |
T |
C |
18: 81,015,085 (GRCm39) |
T948A |
probably benign |
Het |
| Slc44a3 |
T |
C |
3: 121,307,393 (GRCm39) |
I198V |
probably benign |
Het |
| Smg7 |
C |
A |
1: 152,730,079 (GRCm39) |
D405Y |
probably damaging |
Het |
| Synpo2l |
A |
G |
14: 20,711,987 (GRCm39) |
L211S |
probably benign |
Het |
| Thsd7b |
A |
G |
1: 130,145,895 (GRCm39) |
Y1601C |
probably benign |
Het |
| Trpv1 |
A |
G |
11: 73,131,077 (GRCm39) |
K239E |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,585,150 (GRCm39) |
G20302S |
probably damaging |
Het |
| Ube2o |
A |
G |
11: 116,435,571 (GRCm39) |
S406P |
probably benign |
Het |
| Xrn2 |
C |
T |
2: 146,866,670 (GRCm39) |
A80V |
probably damaging |
Het |
| Zfp616 |
C |
T |
11: 73,975,456 (GRCm39) |
T575I |
possibly 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 |
|
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 |
|
|
R6905:Traf4
|
UTSW |
11 |
78,051,268 (GRCm39) |
missense |
probably benign |
0.03 |
|
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'- GAAGCACCAATTGGAGGCAC -3'
(R):5'- TGACCCAGGTTTGGCTAAGC -3'
Sequencing Primer
(F):5'- CACCAATTGGAGGCACCTGAG -3'
(R):5'- GCCACAGCATGTCACTGAG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation