Incidental Mutation 'IGL02273:Tacc1'
ID287226
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tacc1
Ensembl Gene ENSMUSG00000065954
Gene Nametransforming, acidic coiled-coil containing protein 1
Synonyms4833447E04Rik, B230378H13Rik, Tacc1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.317) question?
Stock #IGL02273
Quality Score
Status
Chromosome8
Chromosomal Location25154552-25256588 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 25159781 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Valine at position 768 (L768V)
Ref Sequence ENSEMBL: ENSMUSP00000081043 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084030] [ENSMUST00000084512]
Predicted Effect probably damaging
Transcript: ENSMUST00000084030
AA Change: L768V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000081043
Gene: ENSMUSG00000065954
AA Change: L768V

DomainStartEndE-ValueType
low complexity region 24 45 N/A INTRINSIC
Pfam:TACC 569 769 3.6e-84 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000084512
AA Change: L360V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000081560
Gene: ENSMUSG00000065954
AA Change: L360V

DomainStartEndE-ValueType
low complexity region 24 45 N/A INTRINSIC
Pfam:TACC 160 366 3.5e-82 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184998
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209441
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus may represent a breast cancer candidate gene. It is located close to FGFR1 on a region of chromosome 8 that is amplified in some breast cancers. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930451I11Rik T C 7: 126,830,759 T89A probably benign Het
4932438A13Rik T A 3: 36,921,437 probably benign Het
Amhr2 T C 15: 102,452,489 V353A probably benign Het
Bbox1 A T 2: 110,275,616 Y194* probably null Het
Bnipl C A 3: 95,245,775 R131L possibly damaging Het
Casp8ap2 T C 4: 32,643,974 S1016P probably damaging Het
Cblb A G 16: 52,047,294 I88M possibly damaging Het
Cyp24a1 A T 2: 170,496,358 Y89N probably damaging Het
Ddx25 G T 9: 35,546,826 N332K possibly damaging Het
Dnaaf5 C T 5: 139,177,916 Q348* probably null Het
Dnah3 A T 7: 119,951,271 I3264N probably damaging Het
Eml4 T A 17: 83,456,379 probably null Het
Farsa C T 8: 84,867,826 A368V probably damaging Het
Fat1 T C 8: 44,950,331 Y40H probably damaging Het
Glt1d1 T A 5: 127,657,144 probably benign Het
Gm5422 A G 10: 31,250,007 noncoding transcript Het
Gpr135 A G 12: 72,069,958 I345T probably damaging Het
Hmcn2 G A 2: 31,424,377 V3616I probably benign Het
Kif9 A T 9: 110,510,470 K460M probably damaging Het
Ldhd T C 8: 111,627,290 E426G probably benign Het
Mdh1 A T 11: 21,559,786 N196K probably benign Het
Nfkb1 A T 3: 135,605,207 C444S probably benign Het
Pfkfb2 G A 1: 130,707,582 R81C probably damaging Het
Pfpl T C 19: 12,429,963 V526A possibly damaging Het
Phf20l1 T A 15: 66,640,025 V951E probably damaging Het
Pik3cg A T 12: 32,176,810 L1026Q probably damaging Het
Pms1 T C 1: 53,207,997 N263S probably damaging Het
Prkcb T A 7: 122,627,767 F659I probably damaging Het
Prr14 A G 7: 127,475,936 I69M probably damaging Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Senp5 T C 16: 31,989,872 H161R probably benign Het
Spc25 A G 2: 69,204,929 probably benign Het
Spty2d1 A G 7: 46,997,573 V536A probably damaging Het
Susd2 A G 10: 75,640,938 S84P possibly damaging Het
Tbpl2 A T 2: 24,096,519 I5N probably benign Het
Tmc2 A G 2: 130,229,206 D285G probably damaging Het
Tns3 A T 11: 8,434,531 V1429E probably damaging Het
Trmt44 T C 5: 35,574,113 Y190C probably damaging Het
Ubr4 G A 4: 139,472,578 R4591H possibly damaging Het
Zfc3h1 T A 10: 115,427,099 D1739E probably benign Het
Zfp26 A G 9: 20,441,448 V107A probably damaging Het
Other mutations in Tacc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02142:Tacc1 APN 8 25175217 missense probably damaging 1.00
IGL02728:Tacc1 APN 8 25175219 missense probably damaging 1.00
IGL02738:Tacc1 APN 8 25201143 missense probably damaging 1.00
R0194:Tacc1 UTSW 8 25182376 missense probably benign 0.45
R0617:Tacc1 UTSW 8 25178004 splice site probably benign
R1469:Tacc1 UTSW 8 25182255 missense probably benign 0.00
R1469:Tacc1 UTSW 8 25182255 missense probably benign 0.00
R1785:Tacc1 UTSW 8 25164493 missense probably damaging 1.00
R1786:Tacc1 UTSW 8 25164493 missense probably damaging 1.00
R1889:Tacc1 UTSW 8 25175253 missense probably damaging 0.99
R2131:Tacc1 UTSW 8 25164493 missense probably damaging 1.00
R2133:Tacc1 UTSW 8 25164493 missense probably damaging 1.00
R2419:Tacc1 UTSW 8 25182813 missense possibly damaging 0.90
R4740:Tacc1 UTSW 8 25182565 missense possibly damaging 0.94
R4793:Tacc1 UTSW 8 25182389 missense possibly damaging 0.96
R4911:Tacc1 UTSW 8 25182606 missense possibly damaging 0.66
R5177:Tacc1 UTSW 8 25201221 missense probably damaging 1.00
R5320:Tacc1 UTSW 8 25181865 missense probably benign 0.31
R5377:Tacc1 UTSW 8 25182283 missense possibly damaging 0.94
R5452:Tacc1 UTSW 8 25164415 missense probably null 1.00
R5930:Tacc1 UTSW 8 25182199 missense probably benign
R5952:Tacc1 UTSW 8 25181995 missense possibly damaging 0.85
R6767:Tacc1 UTSW 8 25240800 start codon destroyed probably null
R7200:Tacc1 UTSW 8 25241640 unclassified probably benign
R7464:Tacc1 UTSW 8 25164464 missense probably damaging 1.00
R7521:Tacc1 UTSW 8 25175252 missense possibly damaging 0.82
R7599:Tacc1 UTSW 8 25201285 start codon destroyed probably damaging 1.00
R8050:Tacc1 UTSW 8 25169214 missense probably benign 0.12
R8205:Tacc1 UTSW 8 25182787 missense probably benign 0.03
R8377:Tacc1 UTSW 8 25182283 missense possibly damaging 0.68
R8418:Tacc1 UTSW 8 25241516 missense probably damaging 1.00
R8780:Tacc1 UTSW 8 25182061 missense probably benign 0.00
Posted On2015-04-16