Incidental Mutation 'R8946:Traf3ip3'
ID 681276
Institutional Source Beutler Lab
Gene Symbol Traf3ip3
Ensembl Gene ENSMUSG00000037318
Gene Name TRAF3 interacting protein 3
Synonyms 6030423D04Rik
MMRRC Submission 068784-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8946 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 192857812-192883854 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 192869415 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 257 (C257R)
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: C257R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000040977
Gene: ENSMUSG00000037318
AA Change: C257R

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 unknown
Transcript: ENSMUST00000159666
AA Change: C12R
Predicted Effect probably benign
Transcript: ENSMUST00000160302
Predicted Effect
Predicted Effect probably damaging
Transcript: ENSMUST00000192020
AA Change: C257R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000141698
Gene: ENSMUSG00000037318
AA Change: C257R

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: ENSMUST00000194278
SMART Domains Protein: ENSMUSP00000141661
Gene: ENSMUSG00000037318

DomainStartEndE-ValueType
low complexity region 23 44 N/A INTRINSIC
Meta Mutation Damage Score 0.5903 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 97% (65/67)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap12 A G 10: 4,304,368 (GRCm39) S393G probably damaging Het
Ankrd28 A G 14: 31,430,083 (GRCm39) F862L probably damaging Het
Ankrd31 T C 13: 97,046,037 (GRCm39) *1546Q probably null Het
Ankrd33b T C 15: 31,297,894 (GRCm39) T288A probably benign Het
Aox1 T C 1: 58,145,227 (GRCm39) I1331T possibly damaging Het
Atp13a5 A G 16: 29,146,601 (GRCm39) L231P probably damaging Het
C1qtnf12 T C 4: 156,050,882 (GRCm39) F284L probably damaging Het
Caprin1 A T 2: 103,608,378 (GRCm39) H250Q probably damaging Het
Cd2bp2 A C 7: 126,793,923 (GRCm39) I122S probably damaging Het
Cd300lf T A 11: 115,024,738 (GRCm39) probably benign Het
Ceacam14 A G 7: 17,547,999 (GRCm39) I30V probably benign Het
Chchd1 T A 14: 20,753,385 (GRCm39) *56R probably null Het
Ckap5 A G 2: 91,409,861 (GRCm39) T948A probably benign Het
Clec12a A T 6: 129,340,949 (GRCm39) N243I possibly damaging Het
Col11a2 A G 17: 34,270,757 (GRCm39) M462V probably benign Het
Col6a5 C T 9: 105,822,833 (GRCm39) E175K unknown Het
Csnka2ip T C 16: 64,300,667 (GRCm39) probably benign Het
D130040H23Rik C A 8: 69,755,033 (GRCm39) T146N possibly damaging Het
Dennd5b T C 6: 148,943,485 (GRCm39) probably benign Het
Fanci A G 7: 79,045,726 (GRCm39) T23A probably benign Het
Fmnl1 T C 11: 103,071,741 (GRCm39) Y83H probably damaging Het
Galnt13 C A 2: 54,770,075 (GRCm39) T289N probably benign Het
Gcn1 A G 5: 115,733,404 (GRCm39) D1074G probably benign Het
Gm10801 ATTTTCAGTTTTCTTGCCATATTCCACGTCCTGCACTGGACATTTCTAAATTTTCCACCTTTTTCAGTTTTC ATTTTCAGTTTTC 2: 98,492,669 (GRCm39) probably null Het
Gnl1 T C 17: 36,294,479 (GRCm39) I366T probably benign Het
Gtf2ird2 A T 5: 134,245,161 (GRCm39) Y473F probably damaging Het
Ikzf1 T A 11: 11,719,485 (GRCm39) D397E possibly damaging Het
Ints15 C G 5: 143,300,795 (GRCm39) E19Q probably benign Het
Intu C T 3: 40,637,789 (GRCm39) A425V possibly damaging Het
Irag1 A T 7: 110,477,347 (GRCm39) probably null Het
Jakmip1 G A 5: 37,343,084 (GRCm39) probably null Het
Lif C A 11: 4,219,225 (GRCm39) P168Q possibly damaging Het
Myh11 A C 16: 14,048,580 (GRCm39) S576A probably benign Het
Neb A G 2: 52,041,425 (GRCm39) V6559A probably damaging Het
Nphs1 A G 7: 30,162,625 (GRCm39) N368S probably damaging Het
Npsr1 G A 9: 24,224,525 (GRCm39) V148I probably benign Het
Or51f1 C A 7: 102,505,725 (GRCm39) G255* probably null Het
Or52ab4 T C 7: 102,987,573 (GRCm39) F104S probably damaging Het
Or56a5 T A 7: 104,792,832 (GRCm39) I223F probably damaging Het
Or5b111 A T 19: 13,291,502 (GRCm39) L49Q probably damaging Het
Or7e166 C T 9: 19,624,885 (GRCm39) T254I probably damaging Het
Patz1 T C 11: 3,241,856 (GRCm39) C415R probably damaging Het
Pcdha9 A T 18: 37,131,546 (GRCm39) N205I possibly damaging Het
Pcdhga12 A T 18: 37,899,711 (GRCm39) E181V probably benign Het
Pcnx1 T C 12: 82,018,158 (GRCm39) Y1333H probably damaging Het
Phf7 A T 14: 30,970,106 (GRCm39) probably benign Het
Pomc T G 12: 4,010,298 (GRCm39) S180A probably benign Het
Ppp1r7 T A 1: 93,288,536 (GRCm39) probably null Het
Prrc2c A T 1: 162,536,478 (GRCm39) probably benign Het
Rsf1 GGC GGCCACGGCCGC 7: 97,229,113 (GRCm39) probably benign Het
Semp2l1 C T 1: 32,585,685 (GRCm39) R75Q probably benign Het
Senp1 T C 15: 97,940,782 (GRCm39) K664E probably damaging Het
Skint7 A G 4: 111,839,198 (GRCm39) N164S possibly damaging Het
Smg1 C A 7: 117,751,900 (GRCm39) R2775M probably null Het
Snrnp27 C T 6: 86,653,226 (GRCm39) V131M probably damaging Het
Spire1 C A 18: 67,629,686 (GRCm39) R357L probably damaging Het
Sspo G A 6: 48,434,071 (GRCm39) V959I probably damaging Het
St6galnac2 T C 11: 116,568,458 (GRCm39) H335R probably damaging Het
Stard13 C T 5: 150,984,267 (GRCm39) R623H probably damaging Het
Syde1 T A 10: 78,424,683 (GRCm39) E383V probably damaging Het
Taf10 A G 7: 105,393,524 (GRCm39) M1T probably null Het
Trpm8 G A 1: 88,276,061 (GRCm39) probably benign Het
Veph1 A G 3: 66,171,301 (GRCm39) probably null Het
Vmn1r169 A T 7: 23,276,640 (GRCm39) T11S possibly damaging Het
Wdhd1 A T 14: 47,482,752 (GRCm39) S961T probably benign Het
Zfp773 T C 7: 7,135,469 (GRCm39) T376A possibly damaging 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
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
R9005:Traf3ip3 UTSW 1 192,864,285 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TACACGGCCAATTAGGGACAG -3'
(R):5'- ACTTCCCCTCAGAGTGCCTTAG -3'

Sequencing Primer
(F):5'- CCAATTAGGGACAGCATGACATAGAC -3'
(R):5'- TAGCCATCTCTGCACCTAGAGG -3'
Posted On 2021-08-31