Incidental Mutation 'R0469:Traf3ip3'
ID 43087
Institutional Source Beutler Lab
Gene Symbol Traf3ip3
Ensembl Gene ENSMUSG00000037318
Gene Name TRAF3 interacting protein 3
Synonyms 6030423D04Rik
MMRRC Submission 038669-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0469 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 192857812-192883854 bp(-) (GRCm39)
Type of Mutation splice site (1006 bp from exon)
DNA Base Change (assembly) T to A at 192860539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000043550] [ENSMUST00000110831] [ENSMUST00000160077] [ENSMUST00000160822] [ENSMUST00000192020] [ENSMUST00000191613] [ENSMUST00000161235] [ENSMUST00000194278] [ENSMUST00000192189] [ENSMUST00000178744] [ENSMUST00000193307]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000043550
AA Change: E461V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000040977
Gene: ENSMUSG00000037318
AA Change: E461V

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: ENSMUST00000110831
SMART Domains Protein: ENSMUSP00000106455
Gene: ENSMUSG00000079144

DomainStartEndE-ValueType
Pfam:DUF4504 13 263 1.4e-83 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160077
SMART Domains Protein: ENSMUSP00000141934
Gene: ENSMUSG00000079144

DomainStartEndE-ValueType
Pfam:DUF4504 13 163 6.7e-36 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000160302
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160332
Predicted Effect probably benign
Transcript: ENSMUST00000160822
SMART Domains Protein: ENSMUSP00000124546
Gene: ENSMUSG00000079144

DomainStartEndE-ValueType
Pfam:DUF4504 15 263 2.7e-75 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000192020
AA Change: E461V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000141698
Gene: ENSMUSG00000037318
AA Change: E461V

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: ENSMUST00000191613
SMART Domains Protein: ENSMUSP00000141799
Gene: ENSMUSG00000079144

DomainStartEndE-ValueType
Pfam:DUF4504 13 70 7.3e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161235
SMART Domains Protein: ENSMUSP00000124191
Gene: ENSMUSG00000079144

DomainStartEndE-ValueType
Pfam:DUF4504 13 263 1.4e-83 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000194278
SMART Domains Protein: ENSMUSP00000141661
Gene: ENSMUSG00000037318

DomainStartEndE-ValueType
low complexity region 23 44 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000192189
Predicted Effect probably benign
Transcript: ENSMUST00000178744
SMART Domains Protein: ENSMUSP00000136653
Gene: ENSMUSG00000079144

DomainStartEndE-ValueType
Pfam:DUF4504 13 263 1.4e-83 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000193307
SMART Domains Protein: ENSMUSP00000142273
Gene: ENSMUSG00000079144

DomainStartEndE-ValueType
Pfam:DUF4504 13 84 3.4e-18 PFAM
Meta Mutation Damage Score 0.1008 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.2%
  • 20x: 92.3%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 A G 5: 105,125,482 (GRCm39) I67T probably damaging Het
Acoxl G A 2: 127,722,423 (GRCm39) probably null Het
Adam10 T A 9: 70,655,530 (GRCm39) W333R probably damaging Het
Ahnak C T 19: 8,995,596 (GRCm39) R5627* probably null Het
Alms1 A T 6: 85,597,351 (GRCm39) R1195* probably null Het
Arih2 T A 9: 108,482,291 (GRCm39) H490L possibly damaging Het
Arpc1b T A 5: 145,064,525 (GRCm39) W361R probably damaging Het
B3gntl1 A T 11: 121,563,851 (GRCm39) V3D probably benign Het
Baiap2l1 T C 5: 144,212,701 (GRCm39) Y438C probably damaging Het
Bicc1 C A 10: 70,915,045 (GRCm39) R73L probably benign Het
Ccdc110 T A 8: 46,388,194 (GRCm39) N50K probably benign Het
Ccdc168 T A 1: 44,100,257 (GRCm39) K280N possibly damaging Het
Cep76 A T 18: 67,767,850 (GRCm39) N227K probably benign Het
Col6a4 A T 9: 105,957,746 (GRCm39) V26D probably damaging Het
Cpe T A 8: 65,064,501 (GRCm39) I233F probably damaging Het
Cpsf2 T C 12: 101,955,045 (GRCm39) V272A probably damaging Het
Defa34 A G 8: 22,155,988 (GRCm39) probably null Het
Dnah12 A G 14: 26,520,856 (GRCm39) R1892G probably damaging Het
Efr3b G T 12: 4,032,058 (GRCm39) D183E probably benign Het
Epyc A G 10: 97,485,625 (GRCm39) T22A probably benign Het
Fam83a C A 15: 57,873,322 (GRCm39) Q384K probably benign Het
Fam83b G T 9: 76,400,108 (GRCm39) L332I possibly damaging Het
Ggn C T 7: 28,870,721 (GRCm39) P47S probably damaging Het
Gli3 T G 13: 15,899,370 (GRCm39) L919R probably damaging Het
Golgb1 A G 16: 36,751,997 (GRCm39) I3144V probably benign Het
Gpr108 T C 17: 57,542,358 (GRCm39) D549G possibly damaging Het
Gpr39 C T 1: 125,605,237 (GRCm39) T55M probably damaging Het
Grk4 A G 5: 34,873,557 (GRCm39) T208A probably damaging Het
Gucy2e T C 11: 69,126,402 (GRCm39) D326G probably benign Het
H2-Eb2 C T 17: 34,553,218 (GRCm39) Q135* probably null Het
Hectd4 T A 5: 121,419,959 (GRCm39) Y635N possibly damaging Het
Hectd4 G A 5: 121,443,736 (GRCm39) E1319K possibly damaging Het
Hnrnph3 T A 10: 62,853,994 (GRCm39) R41S probably benign Het
Hnrnph3 T A 10: 62,855,279 (GRCm39) D2V probably damaging Het
Hs3st2 T C 7: 121,099,792 (GRCm39) S213P probably damaging Het
Ikbkb A T 8: 23,161,651 (GRCm39) C412* probably null Het
Kctd21 T C 7: 96,996,748 (GRCm39) F74L probably damaging Het
Krt23 T A 11: 99,377,608 (GRCm39) I133L probably damaging Het
Krt74 T C 15: 101,671,751 (GRCm39) noncoding transcript Het
Lmtk3 T A 7: 45,443,536 (GRCm39) L740M possibly damaging Het
Lrrc10 T A 10: 116,881,695 (GRCm39) L123Q probably damaging Het
Map1a A T 2: 121,136,255 (GRCm39) H2357L probably benign Het
Mcf2l A G 8: 13,047,337 (GRCm39) D233G probably damaging Het
Mdn1 A G 4: 32,738,619 (GRCm39) N3524S probably benign Het
Msto1 A G 3: 88,818,848 (GRCm39) L269P probably benign Het
Naca C T 10: 127,880,659 (GRCm39) A1897V probably benign Het
Or1j10 A T 2: 36,267,474 (GRCm39) I229F probably benign Het
Or4a39 A T 2: 89,237,135 (GRCm39) M96K probably damaging Het
Or5w15 A G 2: 87,567,825 (GRCm39) V281A probably damaging Het
Or8b12i T C 9: 20,082,561 (GRCm39) Y102C probably benign Het
Pdzrn3 A T 6: 101,128,014 (GRCm39) I884N probably damaging Het
Phf24 G T 4: 42,933,761 (GRCm39) V48L possibly damaging Het
Pkn1 C A 8: 84,398,953 (GRCm39) C678F probably damaging Het
Pla2g4a T A 1: 149,716,398 (GRCm39) M688L possibly damaging Het
Ppp1r3c A T 19: 36,711,617 (GRCm39) F51Y possibly damaging Het
Psen2 T C 1: 180,066,479 (GRCm39) T153A probably damaging Het
Rbmx C T X: 56,436,926 (GRCm39) probably null Het
Rbp3 A G 14: 33,684,376 (GRCm39) K1135R possibly damaging Het
Slco2b1 T A 7: 99,310,743 (GRCm39) M603L probably benign Het
Sncaip A G 18: 53,001,781 (GRCm39) T101A probably benign Het
Ssh1 A T 5: 114,084,766 (GRCm39) D448E probably benign Het
Ssmem1 A T 6: 30,519,547 (GRCm39) probably null Het
Stk11 T C 10: 79,961,920 (GRCm39) V47A probably damaging Het
Sv2b T G 7: 74,786,140 (GRCm39) M427L probably benign Het
Syne1 A G 10: 5,317,600 (GRCm39) L498P probably damaging Het
Syne2 T C 12: 75,900,923 (GRCm39) probably null Het
Taf6l G T 19: 8,755,885 (GRCm39) H254Q probably benign Het
Tas2r123 T C 6: 132,824,295 (GRCm39) V64A probably benign Het
Tm9sf1 A T 14: 55,878,886 (GRCm39) F169I possibly damaging Het
Tmpo A C 10: 90,998,958 (GRCm39) I276M probably benign Het
Tnnc1 A G 14: 30,933,365 (GRCm39) D149G probably damaging Het
Tpr AAGAGAGAGAGAGAG AAGAGAGAGAGAG 1: 150,299,418 (GRCm39) probably null Het
Trim55 G T 3: 19,725,256 (GRCm39) V258L possibly damaging Het
Trpm1 G A 7: 63,873,506 (GRCm39) G587D probably damaging Het
Ttn A G 2: 76,560,756 (GRCm39) V29215A probably damaging Het
Ube2u A G 4: 100,343,870 (GRCm39) I90V probably benign Het
Upb1 T C 10: 75,250,917 (GRCm39) probably null Het
Vmn2r57 A T 7: 41,077,216 (GRCm39) S317T possibly damaging Het
Wdr73 G A 7: 80,547,698 (GRCm39) Q107* probably null Het
Zfp628 A T 7: 4,922,732 (GRCm39) Q318L 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
IGL02432:Traf3ip3 APN 1 192,866,884 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TCCATTGCCCCTAGAAGGGTTCTC -3'
(R):5'- TTCTACTCCATTCAGCGAAGCCAC -3'

Sequencing Primer
(F):5'- AAGGGTTCTCTGCCCCAC -3'
(R):5'- TCAGCGAAGCCACAGACAC -3'
Posted On 2013-05-23