Incidental Mutation 'IGL03355:Tipin'
ID 419882
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tipin
Ensembl Gene ENSMUSG00000032397
Gene Name timeless interacting protein
Synonyms 1110005A05Rik, 1110018P21Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.528) question?
Stock # IGL03355
Quality Score
Status
Chromosome 9
Chromosomal Location 64188863-64212706 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 64195406 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 4 (Q4L)
Ref Sequence ENSEMBL: ENSMUSP00000149833 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034964] [ENSMUST00000213165] [ENSMUST00000213289] [ENSMUST00000215031] [ENSMUST00000216594]
AlphaFold Q91WA1
Predicted Effect probably benign
Transcript: ENSMUST00000034964
AA Change: Q4L

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000034964
Gene: ENSMUSG00000032397
AA Change: Q4L

DomainStartEndE-ValueType
low complexity region 19 43 N/A INTRINSIC
Pfam:Swi3 63 143 2.8e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213165
AA Change: Q4L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000213289
AA Change: Q4L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000215031
AA Change: Q4L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000216594
AA Change: Q4L

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is part of the replisome complex, a group of proteins that support DNA replication. It binds TIM and aids in protecting cells against DNA damage and stress. [provided by RefSeq, Feb 2014]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actrt1 T C X: 45,418,624 (GRCm39) V213A probably benign Het
Adam28 A T 14: 68,872,252 (GRCm39) probably benign Het
Apeh T C 9: 107,963,644 (GRCm39) H557R probably benign Het
Atmin T A 8: 117,684,164 (GRCm39) L608* probably null Het
B3gnt5 A T 16: 19,587,903 (GRCm39) M41L probably benign Het
Best3 T C 10: 116,829,010 (GRCm39) F97L possibly damaging Het
Chmp1b2 C A X: 106,831,889 (GRCm39) V180F possibly damaging Het
Col7a1 G A 9: 108,807,228 (GRCm39) V2486M unknown Het
Crym T C 7: 119,798,536 (GRCm39) probably null Het
Cubn T C 2: 13,482,868 (GRCm39) probably null Het
Dnah7b A G 1: 46,158,464 (GRCm39) D349G probably benign Het
Eea1 T C 10: 95,878,074 (GRCm39) probably benign Het
Emc1 C T 4: 139,098,904 (GRCm39) probably benign Het
Eps8 T C 6: 137,489,143 (GRCm39) probably benign Het
Ereg A G 5: 91,236,440 (GRCm39) probably benign Het
Faah G A 4: 115,859,725 (GRCm39) P369S probably benign Het
Fam135a A T 1: 24,068,249 (GRCm39) N703K possibly damaging Het
Frmpd1 T C 4: 45,279,140 (GRCm39) S622P probably damaging Het
Gm10030 A G 9: 110,835,841 (GRCm39) noncoding transcript Het
Gpr179 A T 11: 97,228,434 (GRCm39) S1240R possibly damaging Het
Hax1 A T 3: 89,904,754 (GRCm39) H146Q possibly damaging Het
Ift46 A G 9: 44,693,445 (GRCm39) N31D possibly damaging Het
Kel C T 6: 41,675,821 (GRCm39) probably null Het
Khk A T 5: 31,086,904 (GRCm39) I108L probably benign Het
Morc4 T C X: 138,750,431 (GRCm39) N375S probably null Het
Mta3 A T 17: 84,107,474 (GRCm39) probably benign Het
Nacc2 T C 2: 25,952,249 (GRCm39) K369R probably damaging Het
Nkap T C X: 36,403,323 (GRCm39) probably benign Het
Obscn A T 11: 58,928,618 (GRCm39) L6016Q probably damaging Het
Or52e2 T C 7: 102,804,408 (GRCm39) E182G probably damaging Het
Or8c9 A T 9: 38,240,952 (GRCm39) Q20L probably benign Het
Pde4c T A 8: 71,199,244 (GRCm39) L182Q probably damaging Het
Pla2g10 G T 16: 13,548,284 (GRCm39) probably null Het
Rap1gap2 T A 11: 74,303,170 (GRCm39) I426F probably damaging Het
Rbm33 C A 5: 28,596,059 (GRCm39) probably benign Het
Rnf139 C A 15: 58,771,881 (GRCm39) D635E probably benign Het
Sar1a T C 10: 61,520,718 (GRCm39) V15A possibly damaging Het
Scarb1 A C 5: 125,366,766 (GRCm39) S56A probably benign Het
Scn3a T C 2: 65,290,912 (GRCm39) K1945E possibly damaging Het
Sec62 G A 3: 30,864,071 (GRCm39) G118R unknown Het
Sgce T A 6: 4,689,738 (GRCm39) Q356L probably damaging Het
Slco4c1 A T 1: 96,770,232 (GRCm39) Y277* probably null Het
Smarca4 C T 9: 21,547,132 (GRCm39) T219I probably benign Het
Sphkap A T 1: 83,258,224 (GRCm39) I173N probably damaging Het
Spred3 C T 7: 28,860,997 (GRCm39) C394Y unknown Het
Stra6l A G 4: 45,873,689 (GRCm39) D283G probably benign Het
Tmprss11c T A 5: 86,379,730 (GRCm39) I380F probably benign Het
Tymp T C 15: 89,259,219 (GRCm39) D195G possibly damaging Het
Ugt2b34 T A 5: 87,054,544 (GRCm39) Y79F probably benign Het
Vmn2r16 T A 5: 109,511,580 (GRCm39) S596T possibly damaging Het
Wdhd1 A G 14: 47,481,346 (GRCm39) S1024P possibly damaging Het
Other mutations in Tipin
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01457:Tipin APN 9 64,211,690 (GRCm39) missense probably benign
IGL02164:Tipin APN 9 64,201,631 (GRCm39) missense probably damaging 0.99
IGL02431:Tipin APN 9 64,208,467 (GRCm39) missense probably benign 0.42
R0410:Tipin UTSW 9 64,195,397 (GRCm39) start codon destroyed probably null 1.00
R2080:Tipin UTSW 9 64,197,658 (GRCm39) nonsense probably null
R2870:Tipin UTSW 9 64,211,609 (GRCm39) missense probably benign 0.01
R2870:Tipin UTSW 9 64,211,609 (GRCm39) missense probably benign 0.01
R4552:Tipin UTSW 9 64,195,385 (GRCm39) splice site probably null
R4553:Tipin UTSW 9 64,195,385 (GRCm39) splice site probably null
R4812:Tipin UTSW 9 64,211,694 (GRCm39) missense probably benign
R7330:Tipin UTSW 9 64,195,508 (GRCm39) missense probably benign
R8985:Tipin UTSW 9 64,195,385 (GRCm39) splice site probably null
R9224:Tipin UTSW 9 64,195,430 (GRCm39) missense probably benign 0.28
Posted On 2016-08-02