Incidental Mutation 'IGL02431:Tipin'
ID 293141
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 # IGL02431
Quality Score
Status
Chromosome 9
Chromosomal Location 64188863-64212706 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 64208467 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 204 (K204E)
Ref Sequence ENSEMBL: ENSMUSP00000149833 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034964] [ENSMUST00000216594]
AlphaFold Q91WA1
Predicted Effect probably benign
Transcript: ENSMUST00000034964
AA Change: K204E

PolyPhen 2 Score 0.416 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000034964
Gene: ENSMUSG00000032397
AA Change: K204E

DomainStartEndE-ValueType
low complexity region 19 43 N/A INTRINSIC
Pfam:Swi3 63 143 2.8e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216594
AA Change: K204E

PolyPhen 2 Score 0.416 (Sensitivity: 0.89; Specificity: 0.90)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T A 17: 24,517,958 (GRCm39) I784L probably benign Het
Abcc1 T A 16: 14,237,598 (GRCm39) V473E probably damaging Het
Agap3 A G 5: 24,706,010 (GRCm39) E758G probably damaging Het
C6 A T 15: 4,789,343 (GRCm39) K263* probably null Het
Cep78 T C 19: 15,936,943 (GRCm39) T588A probably benign Het
Cfap20dc T C 14: 8,659,424 (GRCm38) N57S probably damaging Het
Col4a3 C T 1: 82,657,344 (GRCm39) Q815* probably null Het
Dcaf10 A G 4: 45,342,630 (GRCm39) M155V probably benign Het
Fam228b T C 12: 4,812,370 (GRCm39) Y136C probably damaging Het
Fryl A T 5: 73,255,651 (GRCm39) H793Q probably benign Het
Gm10134 T C 2: 28,396,429 (GRCm39) probably benign Het
Gm6505 T C 3: 28,819,169 (GRCm39) noncoding transcript Het
Il31ra A G 13: 112,666,830 (GRCm39) F416S probably damaging Het
Lipc A G 9: 70,841,750 (GRCm39) probably benign Het
Lrp4 A G 2: 91,306,982 (GRCm39) K368E possibly damaging Het
Lrriq1 A T 10: 103,036,500 (GRCm39) N884K probably damaging Het
Mrgprx1 T C 7: 47,670,875 (GRCm39) R291G probably benign Het
Myo15a T A 11: 60,401,465 (GRCm39) V3057E possibly damaging Het
Or11g1 T A 14: 50,651,226 (GRCm39) I75N probably damaging Het
Or14j8 T A 17: 38,263,413 (GRCm39) R167S probably benign Het
Postn A T 3: 54,282,517 (GRCm39) I493F probably damaging Het
Ptpn22 C A 3: 103,810,713 (GRCm39) F713L probably benign Het
Pygm T C 19: 6,438,148 (GRCm39) V239A probably damaging Het
Rangrf C A 11: 68,863,565 (GRCm39) C147F probably benign Het
Rnf112 C T 11: 61,341,205 (GRCm39) R460H probably benign Het
Sh3d19 A G 3: 86,014,305 (GRCm39) E423G probably damaging Het
Tasor2 A G 13: 3,624,736 (GRCm39) V1738A possibly damaging Het
Traf3ip1 A T 1: 91,427,357 (GRCm39) Q109L unknown Het
Ttc21b A T 2: 66,082,229 (GRCm39) probably benign Het
Ttn C A 2: 76,804,460 (GRCm39) A271S probably benign Het
Vegfb C A 19: 6,963,386 (GRCm39) probably null Het
Vmn1r15 T A 6: 57,235,888 (GRCm39) L252H possibly damaging Het
Wipi1 A T 11: 109,494,617 (GRCm39) V72D probably damaging Het
Zmym1 G A 4: 126,941,557 (GRCm39) Q944* probably null 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
IGL03355:Tipin APN 9 64,195,406 (GRCm39) missense probably benign 0.29
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 2015-04-16