Incidental Mutation 'IGL02728:Tacc1'
ID305292
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: 0.383) question?
Stock #IGL02728
Quality Score
Status
Chromosome8
Chromosomal Location25154552-25256588 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 25175219 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 50 (D50G)
Ref Sequence ENSEMBL: ENSMUSP00000147525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084030] [ENSMUST00000084512] [ENSMUST00000210016] [ENSMUST00000210767] [ENSMUST00000210933] [ENSMUST00000211622]
Predicted Effect possibly damaging
Transcript: ENSMUST00000084030
AA Change: D499G

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000081043
Gene: ENSMUSG00000065954
AA Change: D499G

DomainStartEndE-ValueType
low complexity region 24 45 N/A INTRINSIC
Pfam:TACC 569 769 3.6e-84 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000084512
AA Change: D91G

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000081560
Gene: ENSMUSG00000065954
AA Change: D91G

DomainStartEndE-ValueType
low complexity region 24 45 N/A INTRINSIC
Pfam:TACC 160 366 3.5e-82 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000210016
AA Change: D50G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000210767
Predicted Effect possibly damaging
Transcript: ENSMUST00000210933
AA Change: D61G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000211622
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 G T 9: 90,191,827 probably benign Het
Als2 A G 1: 59,196,347 V726A probably benign Het
Apba1 G A 19: 23,944,905 G779E possibly damaging Het
Atr T A 9: 95,936,475 V2167E probably damaging Het
Bod1l T C 5: 41,826,503 K566E probably damaging Het
Btd T C 14: 31,667,362 F347L probably benign Het
Btg2 T C 1: 134,078,905 probably benign Het
Cblb T A 16: 52,183,309 S717T probably benign Het
Cep250 T A 2: 155,983,278 probably benign Het
Cep350 T C 1: 155,953,222 N312S probably benign Het
Clasp1 A T 1: 118,602,377 T1490S probably damaging Het
Col7a1 T A 9: 108,984,104 C2906S probably benign Het
Csmd1 C T 8: 15,999,779 probably null Het
Cspg4 T A 9: 56,886,481 V500E probably damaging Het
Cyp7b1 T A 3: 18,072,575 D469V probably damaging Het
Dhh A T 15: 98,894,311 probably null Het
Dhrs3 A G 4: 144,920,072 R231G probably damaging Het
Disp3 A G 4: 148,272,038 S122P probably damaging Het
Dnah1 T C 14: 31,283,998 I2275V probably benign Het
Dock8 A C 19: 25,132,220 N922T probably benign Het
Eef1d A G 15: 75,903,096 L154P probably damaging Het
Eif4ebp1 C A 8: 27,273,482 P101Q possibly damaging Het
Eif4g1 T G 16: 20,686,752 probably benign Het
Emb A G 13: 117,232,765 M50V probably benign Het
Eml4 T C 17: 83,473,139 probably null Het
Fkbp10 G T 11: 100,415,977 R65L probably damaging Het
Gm10436 G T 12: 88,176,022 H275Q probably benign Het
Gm5878 T C 6: 85,118,592 N83S probably benign Het
Gm8165 C T 14: 43,676,237 A57T unknown Het
Gpr179 A G 11: 97,337,900 V1143A probably damaging Het
Hat1 T C 2: 71,421,260 Y218H probably damaging Het
Hfm1 T A 5: 106,878,823 N885I probably benign Het
Inha T C 1: 75,509,447 S129P probably damaging Het
Ints9 T C 14: 64,993,008 I128T probably damaging Het
Klra9 T C 6: 130,191,186 probably null Het
Lrba A G 3: 86,776,049 E2726G probably damaging Het
Lrp1b T C 2: 40,801,398 N3356D probably benign Het
Map3k5 A G 10: 20,118,292 D1008G possibly damaging Het
Med4 T A 14: 73,517,975 L241Q possibly damaging Het
Mtch1 A G 17: 29,338,742 V254A possibly damaging Het
Napg C T 18: 62,994,304 probably benign Het
Olfr173 C T 16: 58,797,480 R122H probably benign Het
Olfr339 T C 2: 36,422,144 S249P possibly damaging Het
Olfr823 T A 10: 130,112,618 R57S probably damaging Het
Olfr853 A G 9: 19,537,846 F28S possibly damaging Het
Olfr924 T C 9: 38,848,926 S271P probably damaging Het
Pias1 T A 9: 62,923,644 S161C probably damaging Het
Pias1 G T 9: 62,923,645 N160K possibly damaging Het
Pigp G A 16: 94,367,607 P37S probably damaging Het
Pik3c2b T A 1: 133,092,327 V1070E probably benign Het
Prepl T C 17: 85,070,582 T457A probably damaging Het
Psg23 G A 7: 18,606,928 A467V probably benign Het
Rad54l T C 4: 116,122,949 R13G probably benign Het
Rassf5 T C 1: 131,180,599 D248G probably damaging Het
Rspo1 A G 4: 125,005,162 N92S probably damaging Het
Scube1 G A 15: 83,659,016 probably benign Het
Sec31b C A 19: 44,523,115 V616F probably damaging Het
Sema3a T C 5: 13,565,914 V435A probably damaging Het
Slc7a10 T A 7: 35,197,698 I208N probably damaging Het
Stab2 A T 10: 86,856,556 M2151K possibly damaging Het
Tas2r121 G T 6: 132,700,517 T164N probably damaging Het
Tatdn2 T C 6: 113,704,715 W570R probably damaging Het
Telo2 A T 17: 25,104,654 F600I probably damaging Het
Trim36 T A 18: 46,172,602 H426L probably benign Het
Trpm6 A T 19: 18,809,652 N531Y possibly damaging Het
Ttc30a1 T A 2: 75,980,849 M297L probably benign Het
Ttc39a T C 4: 109,442,723 C470R probably damaging Het
Ttn C T 2: 76,784,939 E8485K probably damaging Het
Ubr4 A T 4: 139,468,811 I1253F probably damaging Het
Unc79 A T 12: 103,122,429 H1724L possibly damaging Het
Vmn1r40 T A 6: 89,715,016 C89S probably benign Het
Wdr55 A G 18: 36,763,382 E375G probably benign Het
Other mutations in Tacc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02142:Tacc1 APN 8 25175217 missense probably damaging 1.00
IGL02273:Tacc1 APN 8 25159781 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
Posted On2015-04-16