Incidental Mutation 'R9002:Traf3ip1'
ID 685002
Institutional Source Beutler Lab
Gene Symbol Traf3ip1
Ensembl Gene ENSMUSG00000034292
Gene Name TRAF3 interacting protein 1
Synonyms MIP-T3, 3930402D05Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9002 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 91494647-91529307 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91505456 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 316 (S316P)
Ref Sequence ENSEMBL: ENSMUSP00000042391 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047242] [ENSMUST00000189341]
AlphaFold Q149C2
Predicted Effect probably benign
Transcript: ENSMUST00000047242
AA Change: S316P

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000042391
Gene: ENSMUSG00000034292
AA Change: S316P

DomainStartEndE-ValueType
Pfam:MIP-T3 49 619 7e-207 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189341
SMART Domains Protein: ENSMUSP00000140151
Gene: ENSMUSG00000034292

DomainStartEndE-ValueType
Pfam:MIP-T3 49 648 7.1e-203 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,291,926 M1263K possibly damaging Het
Abca8b C T 11: 109,952,630 D985N probably benign Het
Ak5 A T 3: 152,653,454 M207K probably damaging Het
Akt1 T C 12: 112,659,614 I75V probably benign Het
Ank T A 15: 27,544,327 L58* probably null Het
Ap1g1 A C 8: 109,855,106 T666P probably benign Het
Ap3b2 A T 7: 81,467,444 S615T probably benign Het
Ash1l G T 3: 88,981,408 R198L probably benign Het
Axl A T 7: 25,778,678 C199S probably damaging Het
C1d T C 11: 17,262,787 L44S probably damaging Het
Chst13 G A 6: 90,309,524 P152L probably damaging Het
Col4a4 A G 1: 82,471,311 L1186P probably benign Het
Ctdsp2 T A 10: 126,996,192 I223N probably damaging Het
Eml1 T A 12: 108,538,179 I799N probably damaging Het
Fbxw18 G A 9: 109,690,592 T282I probably damaging Het
Fmo2 A T 1: 162,878,078 C397* probably null Het
Gbp10 C A 5: 105,221,981 V262L probably benign Het
Gm11639 A T 11: 105,029,996 D4671V probably damaging Het
Gm45871 A T 18: 90,591,844 H402L probably damaging Het
Has1 T C 17: 17,843,650 S576G unknown Het
Hat1 C T 2: 71,441,303 R407W probably damaging Het
Hivep2 G T 10: 14,132,413 R1585L probably benign Het
Ifi211 A G 1: 173,906,328 V89A possibly damaging Het
Igkv4-59 T C 6: 69,438,491 T27A possibly damaging Het
Irf9 T A 14: 55,607,683 N333K possibly damaging Het
Jakmip2 C T 18: 43,582,258 V68I probably benign Het
Kif1b T G 4: 149,191,255 I1400L probably damaging Het
Kif2b C T 11: 91,576,227 C410Y probably benign Het
Klk1b16 T C 7: 44,140,765 L153P possibly damaging Het
Kndc1 C T 7: 139,927,795 S1222F possibly damaging Het
Lama5 A G 2: 180,196,518 C855R probably damaging Het
Mast3 A G 8: 70,781,260 L947P probably damaging Het
Mblac2 C A 13: 81,711,953 A142E possibly damaging Het
Mppe1 A G 18: 67,225,854 S348P possibly damaging Het
Mroh8 A C 2: 157,217,019 V909G probably damaging Het
Mthfd1 C T 12: 76,303,980 T712M probably benign Het
Nek10 T C 14: 14,980,590 L982P probably damaging Het
Nlrp4b C T 7: 10,714,959 T363I probably damaging Het
Nol10 A G 12: 17,358,133 E120G probably damaging Het
Olfml1 T C 7: 107,590,216 S163P probably damaging Het
Olfr1104 T C 2: 87,021,897 T216A probably benign Het
Olfr135 A T 17: 38,208,664 N140Y probably benign Het
Olfr522 T C 7: 140,162,285 I222V probably damaging Het
Olfr576 A T 7: 102,965,411 I104F probably damaging Het
Olfr902 T A 9: 38,448,875 M1K probably null Het
Pde6a T A 18: 61,285,989 L812Q probably damaging Het
Pdxp T A 15: 78,918,259 M231K probably damaging Het
Pi4ka A G 16: 17,299,453 L1368P Het
Ppie T C 4: 123,130,551 N171S possibly damaging Het
Rimbp2 T C 5: 128,788,292 H657R probably benign Het
Sarnp T A 10: 128,821,973 probably null Het
Serpinb9c T C 13: 33,150,346 T266A probably damaging Het
Srgap3 T A 6: 112,780,893 I218F possibly damaging Het
Susd1 C A 4: 59,324,882 W717L probably benign Het
Tgfbi A G 13: 56,623,589 Y88C probably damaging Het
Tmc6 A T 11: 117,770,482 F624Y probably damaging Het
Tnni2 A G 7: 142,444,276 E172G probably damaging Het
Tshr C A 12: 91,537,774 N495K possibly damaging Het
Ulk3 C A 9: 57,593,259 A317E probably damaging Het
Usp24 T C 4: 106,418,215 V2229A possibly damaging Het
Usp32 G A 11: 85,053,951 R304C probably damaging Het
Usp40 C T 1: 88,007,341 G28D probably benign Het
Vmn1r41 A G 6: 89,747,127 K217E possibly damaging Het
Vmn2r73 T A 7: 85,858,076 K676M probably benign Het
Vnn1 A G 10: 23,899,451 T200A possibly damaging Het
Zc3hav1 A G 6: 38,325,241 L698P possibly damaging Het
Other mutations in Traf3ip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01355:Traf3ip1 APN 1 91518297 missense probably damaging 0.98
IGL01997:Traf3ip1 APN 1 91507570 critical splice donor site probably null
IGL02431:Traf3ip1 APN 1 91499635 missense unknown
IGL03106:Traf3ip1 APN 1 91522887 missense probably benign 0.26
eclectic UTSW 1 91507736 splice site probably null
R0538:Traf3ip1 UTSW 1 91499619 missense unknown
R1034:Traf3ip1 UTSW 1 91518319 splice site probably null
R1065:Traf3ip1 UTSW 1 91500784 missense unknown
R1757:Traf3ip1 UTSW 1 91522857 missense probably damaging 1.00
R2360:Traf3ip1 UTSW 1 91499652 missense unknown
R2367:Traf3ip1 UTSW 1 91507520 missense possibly damaging 0.90
R3031:Traf3ip1 UTSW 1 91520100 missense probably damaging 1.00
R3752:Traf3ip1 UTSW 1 91500917 splice site probably benign
R3752:Traf3ip1 UTSW 1 91518297 missense probably damaging 0.98
R4690:Traf3ip1 UTSW 1 91520112 missense possibly damaging 0.90
R4747:Traf3ip1 UTSW 1 91527757 missense probably damaging 1.00
R5328:Traf3ip1 UTSW 1 91520069 missense probably damaging 1.00
R5540:Traf3ip1 UTSW 1 91501315 missense probably benign 0.07
R5910:Traf3ip1 UTSW 1 91527745 missense probably damaging 1.00
R6593:Traf3ip1 UTSW 1 91527695 missense possibly damaging 0.82
R6836:Traf3ip1 UTSW 1 91521000 missense probably benign 0.17
R7249:Traf3ip1 UTSW 1 91527639 missense probably damaging 1.00
R7418:Traf3ip1 UTSW 1 91507736 splice site probably null
R7436:Traf3ip1 UTSW 1 91511388 missense probably benign 0.02
R7597:Traf3ip1 UTSW 1 91511445 missense probably damaging 0.97
R7751:Traf3ip1 UTSW 1 91494757 start gained probably benign
R8031:Traf3ip1 UTSW 1 91501419 missense probably damaging 1.00
R8179:Traf3ip1 UTSW 1 91500801 missense unknown
R8919:Traf3ip1 UTSW 1 91516074 intron probably benign
R9040:Traf3ip1 UTSW 1 91501370 missense probably damaging 0.99
R9055:Traf3ip1 UTSW 1 91501011 nonsense probably null
R9745:Traf3ip1 UTSW 1 91511373 nonsense probably null
Predicted Primers PCR Primer
(F):5'- GCAATGTGCTGTGTGAGAGA -3'
(R):5'- CATATTCGTGCATTTGTACACACA -3'

Sequencing Primer
(F):5'- CAATGTGCTGTGTGAGAGATTATC -3'
(R):5'- CATCAGATGACCTGTGAGCATGTC -3'
Posted On 2021-10-11