Incidental Mutation 'IGL01457:Tipin'
ID84834
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tipin
Ensembl Gene ENSMUSG00000032397
Gene Nametimeless interacting protein
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.330) question?
Stock #IGL01457
Quality Score
Status
Chromosome9
Chromosomal Location64281581-64305424 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 64304408 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 259 (T259A)
Ref Sequence ENSEMBL: ENSMUSP00000149833 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034964] [ENSMUST00000068367] [ENSMUST00000113890] [ENSMUST00000120760] [ENSMUST00000168844] [ENSMUST00000216594]
Predicted Effect probably benign
Transcript: ENSMUST00000034964
AA Change: T259A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034964
Gene: ENSMUSG00000032397
AA Change: T259A

DomainStartEndE-ValueType
low complexity region 19 43 N/A INTRINSIC
Pfam:Swi3 63 143 2.8e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000068367
SMART Domains Protein: ENSMUSP00000063830
Gene: ENSMUSG00000032396

DomainStartEndE-ValueType
low complexity region 125 137 N/A INTRINSIC
RNB 382 734 4.82e-127 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113890
SMART Domains Protein: ENSMUSP00000109522
Gene: ENSMUSG00000032396

DomainStartEndE-ValueType
low complexity region 125 137 N/A INTRINSIC
RNB 382 734 4.82e-127 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120760
SMART Domains Protein: ENSMUSP00000113503
Gene: ENSMUSG00000032396

DomainStartEndE-ValueType
low complexity region 125 137 N/A INTRINSIC
RNB 382 734 4.82e-127 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000168844
SMART Domains Protein: ENSMUSP00000129772
Gene: ENSMUSG00000032396

DomainStartEndE-ValueType
low complexity region 208 220 N/A INTRINSIC
RNB 465 817 4.82e-127 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000216594
AA Change: T259A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,660,951 Y1019F probably benign Het
4930455H04Rik T G 3: 116,968,551 probably benign Het
4930548H24Rik A T 5: 31,487,427 I175L probably benign Het
4932415D10Rik C A 10: 82,284,734 K4147N probably damaging Het
9830107B12Rik A T 17: 48,128,583 probably benign Het
Abcc8 A G 7: 46,135,493 V737A possibly damaging Het
Adamts20 T A 15: 94,331,448 Y930F probably damaging Het
Alkbh8 T A 9: 3,369,825 F365I probably damaging Het
App G A 16: 85,103,239 H108Y probably damaging Het
Bfsp1 T C 2: 143,827,644 probably benign Het
Cabin1 T C 10: 75,742,429 N478S probably damaging Het
Camsap3 G A 8: 3,604,795 V796I probably damaging Het
Carns1 A T 19: 4,166,499 probably null Het
Clca1 C T 3: 145,007,778 M697I probably benign Het
Cltc C T 11: 86,702,248 M1600I probably benign Het
Cnot1 T A 8: 95,741,009 N1499Y probably damaging Het
Crebbp T A 16: 4,124,768 I196L probably damaging Het
Drc3 C A 11: 60,358,649 probably benign Het
Fam161a T A 11: 23,020,702 Y234* probably null Het
Il1r1 C A 1: 40,313,170 P500Q probably damaging Het
Katnal1 G T 5: 148,893,797 probably benign Het
Klhdc2 A G 12: 69,297,053 N20S probably benign Het
Kmt2e A T 5: 23,502,019 T1527S possibly damaging Het
Magi1 C T 6: 93,747,224 G270D probably damaging Het
Mdn1 T A 4: 32,715,922 S2035T possibly damaging Het
Mki67 A T 7: 135,699,546 M1253K probably benign Het
Myh7 T C 14: 54,988,879 M435V possibly damaging Het
Myh8 A G 11: 67,292,679 I739V probably benign Het
Npnt T C 3: 132,885,982 K430R probably damaging Het
Nrd1 A G 4: 109,047,660 N696S probably benign Het
Oit3 T C 10: 59,425,484 probably benign Het
Olfr1350 A G 7: 6,570,212 T74A probably benign Het
Olfr478 A T 7: 108,032,121 I74K possibly damaging Het
Olfr571 A G 7: 102,909,719 I40T possibly damaging Het
Olfr642 A G 7: 104,050,169 Y62H probably damaging Het
Pkd1 G A 17: 24,594,821 probably null Het
Plat A G 8: 22,776,828 M279V probably benign Het
Prkd1 A T 12: 50,392,910 L378* probably null Het
Rasgef1a C T 6: 118,084,545 T157I probably benign Het
Rbm22 A G 18: 60,560,857 N11S probably damaging Het
Ros1 T C 10: 52,046,330 probably benign Het
Sema6d T A 2: 124,653,642 F3Y unknown Het
Sis T C 3: 72,961,021 D112G probably benign Het
Slit1 C A 19: 41,611,044 G1023C probably damaging Het
Sptb T C 12: 76,612,555 probably benign Het
Sspo T C 6: 48,498,343 I4881T probably benign Het
Supt6 C A 11: 78,221,143 D1038Y probably damaging Het
Tbc1d2b A T 9: 90,205,091 L945Q probably damaging Het
Tgfbr3 G T 5: 107,149,898 A212E probably damaging Het
Traip T C 9: 107,970,472 S365P probably benign Het
Tst T C 15: 78,399,767 T287A probably benign Het
Tube1 C T 10: 39,145,722 probably benign Het
Uhrf1bp1l T C 10: 89,805,762 S932P probably benign Het
Vmn1r37 T A 6: 66,731,409 N6K probably damaging Het
Vmn2r111 C A 17: 22,571,985 E111* probably null Het
Vmn2r17 C T 5: 109,453,032 T732I probably benign Het
Vmn2r69 A T 7: 85,406,628 D767E possibly damaging Het
Other mutations in Tipin
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02164:Tipin APN 9 64294349 missense probably damaging 0.99
IGL02431:Tipin APN 9 64301185 missense probably benign 0.42
IGL03355:Tipin APN 9 64288124 missense probably benign 0.29
R0410:Tipin UTSW 9 64288115 start codon destroyed probably null 1.00
R2080:Tipin UTSW 9 64290376 nonsense probably null
R2870:Tipin UTSW 9 64304327 missense probably benign 0.01
R2870:Tipin UTSW 9 64304327 missense probably benign 0.01
R4552:Tipin UTSW 9 64288103 splice site probably null
R4553:Tipin UTSW 9 64288103 splice site probably null
R4812:Tipin UTSW 9 64304412 missense probably benign
R7330:Tipin UTSW 9 64288226 missense probably benign
Posted On2013-11-11