Incidental Mutation 'IGL02432:Traf3ip3'
ID 293158
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Traf3ip3
Ensembl Gene ENSMUSG00000037318
Gene Name TRAF3 interacting protein 3
Synonyms 6030423D04Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02432
Quality Score
Status
Chromosome 1
Chromosomal Location 192857812-192883854 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 192866884 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 316 (C316Y)
Ref Sequence ENSEMBL: ENSMUSP00000141698 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043550] [ENSMUST00000159666] [ENSMUST00000192020] [ENSMUST00000194278]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000043550
AA Change: C316Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040977
Gene: ENSMUSG00000037318
AA Change: C316Y

DomainStartEndE-ValueType
low complexity region 23 44 N/A INTRINSIC
coiled coil region 279 486 N/A INTRINSIC
transmembrane domain 487 506 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159666
Predicted Effect unknown
Transcript: ENSMUST00000160302
AA Change: C18Y
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160332
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161403
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162454
Predicted Effect probably damaging
Transcript: ENSMUST00000192020
AA Change: C316Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141698
Gene: ENSMUSG00000037318
AA Change: C316Y

DomainStartEndE-ValueType
low complexity region 23 44 N/A INTRINSIC
coiled coil region 279 486 N/A INTRINSIC
transmembrane domain 487 506 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162480
Predicted Effect probably benign
Transcript: ENSMUST00000194278
SMART Domains Protein: ENSMUSP00000141661
Gene: ENSMUSG00000037318

DomainStartEndE-ValueType
low complexity region 23 44 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene encodes a protein that mediates cell growth by modulating the c-Jun N-terminal kinase signal transduction pathway. The encoded protein may also interact with a large multi-protein assembly containing the phosphatase 2A catalytic subunit. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired single positive thymocyte development and increased gamma-delta T cell numbers. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik G A 2: 151,314,481 (GRCm39) T399M probably benign Het
A830018L16Rik A T 1: 11,818,303 (GRCm39) N321I probably damaging Het
Aimp1 T C 3: 132,379,738 (GRCm39) T135A probably benign Het
Ascc3 T C 10: 50,576,589 (GRCm39) M848T probably damaging Het
Cry2 T C 2: 92,244,012 (GRCm39) D387G probably damaging Het
Daxx G A 17: 34,131,311 (GRCm39) D413N probably benign Het
Gbp6 A T 5: 105,422,228 (GRCm39) V492E probably benign Het
Itpr2 T A 6: 146,226,671 (GRCm39) M1358L probably benign Het
Med13l T A 5: 118,876,465 (GRCm39) D880E possibly damaging Het
Mmd2 A T 5: 142,561,094 (GRCm39) I47N probably damaging Het
Mroh2b G A 15: 4,943,668 (GRCm39) M401I probably benign Het
Nrip1 T C 16: 76,088,668 (GRCm39) K963R probably benign Het
Otop2 A G 11: 115,219,988 (GRCm39) H276R probably damaging Het
Pxn T A 5: 115,683,805 (GRCm39) D79E probably damaging Het
Rho G A 6: 115,909,146 (GRCm39) V61I probably damaging Het
Rtp1 A G 16: 23,250,154 (GRCm39) Y173C probably damaging Het
Slc6a17 T C 3: 107,400,493 (GRCm39) D212G possibly damaging Het
Stpg1 A G 4: 135,235,321 (GRCm39) E54G probably damaging Het
Tas2r119 A G 15: 32,177,853 (GRCm39) T140A probably benign Het
Ttc28 G A 5: 111,371,101 (GRCm39) A517T probably damaging Het
Vmn1r30 T C 6: 58,412,655 (GRCm39) N59S probably benign Het
Vmn2r4 C T 3: 64,313,821 (GRCm39) V387M probably benign Het
Other mutations in Traf3ip3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Traf3ip3 APN 1 192,877,128 (GRCm39) intron probably benign
IGL00663:Traf3ip3 APN 1 192,869,446 (GRCm39) missense probably damaging 1.00
IGL01125:Traf3ip3 APN 1 192,866,772 (GRCm39) splice site probably null
IGL01308:Traf3ip3 APN 1 192,867,199 (GRCm39) missense probably damaging 1.00
IGL01608:Traf3ip3 APN 1 192,869,418 (GRCm39) missense probably benign 0.00
IGL02225:Traf3ip3 APN 1 192,877,408 (GRCm39) missense probably benign 0.03
IGL03102:Traf3ip3 APN 1 192,877,385 (GRCm39) missense probably damaging 1.00
IGL03179:Traf3ip3 APN 1 192,876,676 (GRCm39) missense probably damaging 1.00
Flare UTSW 1 192,877,119 (GRCm39) intron probably benign
sunspot UTSW 1 192,876,823 (GRCm39) splice site probably null
IGL02988:Traf3ip3 UTSW 1 192,877,182 (GRCm39) splice site probably null
R0110:Traf3ip3 UTSW 1 192,860,539 (GRCm39) splice site probably null
R0469:Traf3ip3 UTSW 1 192,860,539 (GRCm39) splice site probably null
R0510:Traf3ip3 UTSW 1 192,860,539 (GRCm39) splice site probably null
R0529:Traf3ip3 UTSW 1 192,877,119 (GRCm39) intron probably benign
R1165:Traf3ip3 UTSW 1 192,866,786 (GRCm39) missense probably damaging 0.99
R1559:Traf3ip3 UTSW 1 192,860,599 (GRCm39) missense probably damaging 0.99
R1729:Traf3ip3 UTSW 1 192,864,201 (GRCm39) missense probably benign 0.01
R1896:Traf3ip3 UTSW 1 192,858,042 (GRCm39) missense probably benign
R4085:Traf3ip3 UTSW 1 192,863,628 (GRCm39) missense probably damaging 0.98
R4086:Traf3ip3 UTSW 1 192,863,628 (GRCm39) missense probably damaging 0.98
R4087:Traf3ip3 UTSW 1 192,863,628 (GRCm39) missense probably damaging 0.98
R4088:Traf3ip3 UTSW 1 192,863,628 (GRCm39) missense probably damaging 0.98
R4090:Traf3ip3 UTSW 1 192,863,628 (GRCm39) missense probably damaging 0.98
R4258:Traf3ip3 UTSW 1 192,880,254 (GRCm39) missense probably damaging 1.00
R4817:Traf3ip3 UTSW 1 192,867,137 (GRCm39) missense probably damaging 1.00
R5299:Traf3ip3 UTSW 1 192,860,483 (GRCm39) nonsense probably null
R5906:Traf3ip3 UTSW 1 192,880,314 (GRCm39) missense possibly damaging 0.55
R6268:Traf3ip3 UTSW 1 192,880,344 (GRCm39) start gained probably benign
R6374:Traf3ip3 UTSW 1 192,864,318 (GRCm39) missense possibly damaging 0.88
R8155:Traf3ip3 UTSW 1 192,860,524 (GRCm39) missense probably damaging 1.00
R8527:Traf3ip3 UTSW 1 192,876,851 (GRCm39) missense probably damaging 1.00
R8536:Traf3ip3 UTSW 1 192,876,823 (GRCm39) splice site probably null
R8542:Traf3ip3 UTSW 1 192,876,851 (GRCm39) missense probably damaging 1.00
R8946:Traf3ip3 UTSW 1 192,869,415 (GRCm39) missense probably damaging 1.00
R9005:Traf3ip3 UTSW 1 192,864,285 (GRCm39) missense probably benign
Posted On 2015-04-16