Incidental Mutation 'R1065:Traf3ip1'
ID 85949
Institutional Source Beutler Lab
Gene Symbol Traf3ip1
Ensembl Gene ENSMUSG00000034292
Gene Name TRAF3 interacting protein 1
Synonyms MIP-T3, 3930402D05Rik
MMRRC Submission 039151-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1065 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 91422369-91457029 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 91428506 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 122 (D122E)
Ref Sequence ENSEMBL: ENSMUSP00000140151 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047242] [ENSMUST00000189341]
AlphaFold Q149C2
Predicted Effect unknown
Transcript: ENSMUST00000047242
AA Change: D122E
SMART Domains Protein: ENSMUSP00000042391
Gene: ENSMUSG00000034292
AA Change: D122E

DomainStartEndE-ValueType
Pfam:MIP-T3 49 619 7e-207 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000189341
AA Change: D122E
SMART Domains Protein: ENSMUSP00000140151
Gene: ENSMUSG00000034292
AA Change: D122E

DomainStartEndE-ValueType
Pfam:MIP-T3 49 648 7.1e-203 PFAM
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.5%
Validation Efficiency 97% (36/37)
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trap allele exhibit embryonic lethality, cardiac edema, abnormal neural development, polydactyly, and microphthalmia associated with a lack of embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cd300ld2 T C 11: 114,904,586 (GRCm39) T94A probably damaging Het
Cdc42bpg G A 19: 6,372,856 (GRCm39) S1515N probably damaging Het
Ckb T C 12: 111,637,681 (GRCm39) E150G probably benign Het
Clec2m A G 6: 129,300,013 (GRCm39) I155T possibly damaging Het
Cobl T A 11: 12,204,327 (GRCm39) M785L possibly damaging Het
Col6a5 T C 9: 105,758,982 (GRCm39) N2075D probably damaging Het
Commd7 G C 2: 153,461,447 (GRCm39) probably benign Het
Corin G A 5: 72,458,993 (GRCm39) R927* probably null Het
Dync2i1 C T 12: 116,219,696 (GRCm39) R82H probably damaging Het
Ift122 A T 6: 115,852,286 (GRCm39) probably null Het
Il1b G A 2: 129,209,927 (GRCm39) T83I probably benign Het
Ints4 T C 7: 97,157,099 (GRCm39) probably null Het
Msh6 T G 17: 88,295,891 (GRCm39) probably benign Het
Mtmr3 T C 11: 4,442,859 (GRCm39) K392E probably damaging Het
Or5t9 A G 2: 86,659,888 (GRCm39) H264R probably damaging Het
Pde3a T C 6: 141,422,458 (GRCm39) probably benign Het
Pde6h A C 6: 136,936,368 (GRCm39) K37T probably damaging Het
Plat C A 8: 23,266,879 (GRCm39) D290E probably damaging Het
Polk A C 13: 96,644,760 (GRCm39) L122R probably damaging Het
Ppp1r3g T A 13: 36,153,418 (GRCm39) D279E probably benign Het
Ptpru T C 4: 131,535,651 (GRCm39) E370G possibly damaging Het
Ralgapa2 T C 2: 146,292,478 (GRCm39) Y187C probably benign Het
Rps6ka2 C T 17: 7,549,157 (GRCm39) probably benign Het
Slit3 T C 11: 35,012,462 (GRCm39) S41P possibly damaging Het
Smarca5 A T 8: 81,431,343 (GRCm39) L958Q probably damaging Het
Snx9 T C 17: 5,952,636 (GRCm39) probably benign Het
Stkld1 A T 2: 26,830,050 (GRCm39) N72I probably damaging Het
Strc C A 2: 121,197,132 (GRCm39) D1532Y probably damaging Het
Sucla2 C T 14: 73,798,074 (GRCm39) probably benign Het
Svil T G 18: 5,063,777 (GRCm39) probably benign Het
Vmn2r7 A T 3: 64,614,559 (GRCm39) D509E possibly damaging Het
Vps52 C A 17: 34,180,213 (GRCm39) Q306K probably benign Het
Zfp407 C T 18: 84,577,898 (GRCm39) A1072T probably benign Het
Zfp418 C A 7: 7,184,561 (GRCm39) Q175K probably benign Het
Zxdc T C 6: 90,355,885 (GRCm39) S465P probably damaging Het
Other mutations in Traf3ip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01355:Traf3ip1 APN 1 91,446,019 (GRCm39) missense probably damaging 0.98
IGL01997:Traf3ip1 APN 1 91,435,292 (GRCm39) critical splice donor site probably null
IGL02431:Traf3ip1 APN 1 91,427,357 (GRCm39) missense unknown
IGL03106:Traf3ip1 APN 1 91,450,609 (GRCm39) missense probably benign 0.26
eclectic UTSW 1 91,435,458 (GRCm39) splice site probably null
R0538:Traf3ip1 UTSW 1 91,427,341 (GRCm39) missense unknown
R1034:Traf3ip1 UTSW 1 91,446,041 (GRCm39) splice site probably null
R1757:Traf3ip1 UTSW 1 91,450,579 (GRCm39) missense probably damaging 1.00
R2360:Traf3ip1 UTSW 1 91,427,374 (GRCm39) missense unknown
R2367:Traf3ip1 UTSW 1 91,435,242 (GRCm39) missense possibly damaging 0.90
R3031:Traf3ip1 UTSW 1 91,447,822 (GRCm39) missense probably damaging 1.00
R3752:Traf3ip1 UTSW 1 91,446,019 (GRCm39) missense probably damaging 0.98
R3752:Traf3ip1 UTSW 1 91,428,639 (GRCm39) splice site probably benign
R4690:Traf3ip1 UTSW 1 91,447,834 (GRCm39) missense possibly damaging 0.90
R4747:Traf3ip1 UTSW 1 91,455,479 (GRCm39) missense probably damaging 1.00
R5328:Traf3ip1 UTSW 1 91,447,791 (GRCm39) missense probably damaging 1.00
R5540:Traf3ip1 UTSW 1 91,429,037 (GRCm39) missense probably benign 0.07
R5910:Traf3ip1 UTSW 1 91,455,467 (GRCm39) missense probably damaging 1.00
R6593:Traf3ip1 UTSW 1 91,455,417 (GRCm39) missense possibly damaging 0.82
R6836:Traf3ip1 UTSW 1 91,448,722 (GRCm39) missense probably benign 0.17
R7249:Traf3ip1 UTSW 1 91,455,361 (GRCm39) missense probably damaging 1.00
R7418:Traf3ip1 UTSW 1 91,435,458 (GRCm39) splice site probably null
R7436:Traf3ip1 UTSW 1 91,439,110 (GRCm39) missense probably benign 0.02
R7597:Traf3ip1 UTSW 1 91,439,167 (GRCm39) missense probably damaging 0.97
R7751:Traf3ip1 UTSW 1 91,422,479 (GRCm39) start gained probably benign
R8031:Traf3ip1 UTSW 1 91,429,141 (GRCm39) missense probably damaging 1.00
R8179:Traf3ip1 UTSW 1 91,428,523 (GRCm39) missense unknown
R8919:Traf3ip1 UTSW 1 91,443,796 (GRCm39) intron probably benign
R9002:Traf3ip1 UTSW 1 91,433,178 (GRCm39) missense probably benign 0.05
R9040:Traf3ip1 UTSW 1 91,429,092 (GRCm39) missense probably damaging 0.99
R9055:Traf3ip1 UTSW 1 91,428,733 (GRCm39) nonsense probably null
R9745:Traf3ip1 UTSW 1 91,439,095 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GCCACACTAACATTTGGAGAGAGGG -3'
(R):5'- GTTACACAGACTTGCCGTGTCAGAG -3'

Sequencing Primer
(F):5'- CAGTGTCATTGGTGCTCAAAC -3'
(R):5'- TGTCAGAGACGTGCATCCTAC -3'
Posted On 2013-11-18