Incidental Mutation 'IGL01361:Traf4'
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ID278312
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Traf4
Ensembl Gene ENSMUSG00000017386
Gene NameTNF receptor associated factor 4
SynonymsCART1, A530032M13Rik, msp2
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.943) question?
Stock #IGL01361
Quality Score
Status
Chromosome11
Chromosomal Location78158499-78165589 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 78165400 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 14 (R14L)
Ref Sequence ENSEMBL: ENSMUSP00000017530 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017530] [ENSMUST00000017549]
Predicted Effect possibly damaging
Transcript: ENSMUST00000017530
AA Change: R14L

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000017530
Gene: ENSMUSG00000017386
AA Change: R14L

DomainStartEndE-ValueType
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: ENSMUST00000017549
SMART Domains Protein: ENSMUSP00000017549
Gene: ENSMUSG00000017405

DomainStartEndE-ValueType
S_TKc 4 258 1.59e-81 SMART
low complexity region 288 316 N/A INTRINSIC
low complexity region 364 378 N/A INTRINSIC
Pfam:RCC1 415 464 4.1e-12 PFAM
Pfam:RCC1_2 451 480 9.2e-10 PFAM
Pfam:RCC1 467 516 9.9e-16 PFAM
Pfam:RCC1 585 634 4.4e-15 PFAM
Pfam:RCC1 637 687 2e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125528
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131015
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141444
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142812
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147798
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148218
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149437
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152611
Coding Region Coverage
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd36 T A 11: 5,596,706 probably benign Het
C1qtnf3 G A 15: 10,960,682 G157D probably damaging Het
Cacna1b T C 2: 24,679,095 E940G possibly damaging Het
Camta1 A G 4: 151,144,692 L561P probably damaging Het
Car15 T C 16: 17,837,854 Y27C probably damaging Het
Catsper1 G T 19: 5,339,479 S474I probably damaging Het
Cps1 A G 1: 67,195,145 D897G probably benign Het
Crtc1 A G 8: 70,387,603 L540P probably damaging Het
Fdps A G 3: 89,094,442 probably benign Het
Gprc6a A G 10: 51,615,430 I741T probably damaging Het
Hdac7 A C 15: 97,811,442 M47R possibly damaging Het
Kalrn T C 16: 34,175,722 probably benign Het
Kat14 C A 2: 144,406,620 probably null Het
Kcnu1 T C 8: 25,886,768 V390A possibly damaging Het
Kdm5a T A 6: 120,399,016 Y578N probably damaging Het
Lrp1b T C 2: 41,110,751 probably benign Het
Mpc2 G T 1: 165,479,523 A98S probably benign Het
Nek10 T C 14: 14,850,957 I334T probably damaging Het
Nufip2 T A 11: 77,692,370 V370E possibly damaging Het
Nup160 C A 2: 90,684,012 Y101* probably null Het
Obscn T A 11: 59,028,889 Y6174F probably damaging Het
Omp A T 7: 98,145,282 I46N probably benign Het
Pcbp4 A T 9: 106,463,249 probably null Het
Pctp A G 11: 89,988,726 V103A probably damaging Het
Pla2r1 A G 2: 60,479,470 Y590H probably damaging Het
Ppfibp2 T C 7: 107,744,301 probably null Het
Reln G A 5: 21,919,021 T2829M probably benign Het
Sh3yl1 T A 12: 30,939,564 probably benign Het
Sipa1l3 A T 7: 29,348,687 Y210N probably damaging Het
Slc33a1 C A 3: 63,943,412 C497F probably damaging Het
Srp9 G A 1: 182,131,337 C25Y probably damaging Het
Usf3 C A 16: 44,212,637 probably null Het
Vmn2r85 T C 10: 130,418,821 T665A probably benign Het
Vps13a C T 19: 16,743,007 A405T probably damaging Het
Zan A T 5: 137,414,342 probably benign Het
Zcchc6 A T 13: 59,785,800 I894K probably damaging Het
Other mutations in Traf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01351:Traf4 APN 11 78165400 missense possibly damaging 0.93
IGL01354:Traf4 APN 11 78165400 missense possibly damaging 0.93
IGL01375:Traf4 APN 11 78160082 missense probably benign 0.00
IGL01991:Traf4 APN 11 78160046 missense possibly damaging 0.87
IGL02243:Traf4 APN 11 78160517 missense probably benign 0.00
IGL02800:Traf4 APN 11 78160235 missense possibly damaging 0.67
IGL02883:Traf4 APN 11 78161621 missense possibly damaging 0.72
PIT4453001:Traf4 UTSW 11 78161534 missense probably benign
R2104:Traf4 UTSW 11 78160014 missense probably damaging 0.99
R2199:Traf4 UTSW 11 78159980 missense probably damaging 1.00
R2298:Traf4 UTSW 11 78160851 missense probably benign 0.08
R2351:Traf4 UTSW 11 78160176 missense probably damaging 1.00
R4547:Traf4 UTSW 11 78161037 missense possibly damaging 0.85
R4854:Traf4 UTSW 11 78161520 nonsense probably null
R6905:Traf4 UTSW 11 78160442 missense probably benign 0.03
R6907:Traf4 UTSW 11 78160442 missense probably benign 0.03
R7384:Traf4 UTSW 11 78160791 critical splice donor site probably null
Posted On2015-04-16