Incidental Mutation 'R7521:Tacc1'
ID 582667
Institutional Source Beutler Lab
Gene Symbol Tacc1
Ensembl Gene ENSMUSG00000065954
Gene Name transforming, acidic coiled-coil containing protein 1
Synonyms 4833447E04Rik, B230378H13Rik, Tacc1
MMRRC Submission 045593-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.310) question?
Stock # R7521 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 25644568-25730901 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25665268 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 488 (V488A)
Ref Sequence ENSEMBL: ENSMUSP00000081043 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084030] [ENSMUST00000084512] [ENSMUST00000210016] [ENSMUST00000210767] [ENSMUST00000210933] [ENSMUST00000211622]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000084030
AA Change: V488A

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000081043
Gene: ENSMUSG00000065954
AA Change: V488A

DomainStartEndE-ValueType
low complexity region 24 45 N/A INTRINSIC
Pfam:TACC 569 769 3.6e-84 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000084512
AA Change: V80A

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000081560
Gene: ENSMUSG00000065954
AA Change: V80A

DomainStartEndE-ValueType
low complexity region 24 45 N/A INTRINSIC
Pfam:TACC 160 366 3.5e-82 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000210016
AA Change: V39A

PolyPhen 2 Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000210767
Predicted Effect possibly damaging
Transcript: ENSMUST00000210933
AA Change: V50A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000211622
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg1 A G 17: 31,283,543 (GRCm39) N76S probably benign Het
Ahnak T C 19: 8,979,715 (GRCm39) V333A possibly damaging Het
Arid1b GGCGGC GGCGGCAGCGGC 17: 5,046,135 (GRCm39) probably benign Het
Arid1b GGGCGGCGGCGGCGGCGGCGGCGG GGGCGGCGGCGGCGGCGGCGGCGGCGGCGG 17: 5,046,119 (GRCm39) probably benign Het
Arid1b A G 17: 5,392,865 (GRCm39) T2079A probably benign Het
Clca3a2 A G 3: 144,507,674 (GRCm39) *190R probably null Het
Cntnap3 G T 13: 64,919,815 (GRCm39) Q681K probably benign Het
Coro7 T C 16: 4,449,346 (GRCm39) D689G probably benign Het
Dnah9 A T 11: 65,880,663 (GRCm39) S2645T probably damaging Het
Dnm3 A T 1: 161,962,113 (GRCm39) L32H probably damaging Het
Dtx4 T C 19: 12,469,861 (GRCm39) K89E probably benign Het
Exph5 T A 9: 53,285,377 (GRCm39) N819K possibly damaging Het
Fpgt A G 3: 154,792,765 (GRCm39) S421P possibly damaging Het
Gbp5 T C 3: 142,206,382 (GRCm39) V22A probably benign Het
Gpatch1 C T 7: 34,993,213 (GRCm39) R544Q probably damaging Het
Grm5 T A 7: 87,723,480 (GRCm39) L590Q possibly damaging Het
Hc T C 2: 34,935,344 (GRCm39) D172G possibly damaging Het
Ifi209 A T 1: 173,470,261 (GRCm39) N283I probably damaging Het
Igsf11 C T 16: 38,829,274 (GRCm39) T115M probably damaging Het
Il17rd T A 14: 26,816,823 (GRCm39) M320K probably benign Het
Kdm5a T A 6: 120,409,148 (GRCm39) C1610* probably null Het
Mast3 T A 8: 71,241,412 (GRCm39) I175L probably benign Het
Mif A T 10: 75,695,942 (GRCm39) S21T possibly damaging Het
Mindy2 T C 9: 70,514,792 (GRCm39) Q542R probably benign Het
Nalcn T A 14: 123,530,870 (GRCm39) E1389D probably damaging Het
Or55b3 C T 7: 102,126,402 (GRCm39) R225H possibly damaging Het
Or5k8 T C 16: 58,644,257 (GRCm39) I272V probably benign Het
Or5t16 T A 2: 86,818,954 (GRCm39) T189S probably damaging Het
Or7e177 T C 9: 20,212,036 (GRCm39) I181T probably benign Het
Pcsk5 T A 19: 17,432,196 (GRCm39) D1473V probably benign Het
Phax C T 18: 56,708,990 (GRCm39) Q185* probably null Het
Ppp2r2b T A 18: 43,192,242 (GRCm39) S22C probably benign Het
Prss40 A G 1: 34,597,090 (GRCm39) F153L probably benign Het
Slc22a2 T C 17: 12,805,710 (GRCm39) S154P probably benign Het
Speer4a1 G A 5: 26,241,763 (GRCm39) T121I probably damaging Het
Tdrp G A 8: 14,003,831 (GRCm39) Q169* probably null Het
Tmem30b C T 12: 73,592,092 (GRCm39) R341H probably benign Het
Other mutations in Tacc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02142:Tacc1 APN 8 25,665,233 (GRCm39) missense probably damaging 1.00
IGL02273:Tacc1 APN 8 25,649,797 (GRCm39) missense probably damaging 1.00
IGL02728:Tacc1 APN 8 25,665,235 (GRCm39) missense probably damaging 1.00
IGL02738:Tacc1 APN 8 25,691,159 (GRCm39) missense probably damaging 1.00
R0194:Tacc1 UTSW 8 25,672,392 (GRCm39) missense probably benign 0.45
R0617:Tacc1 UTSW 8 25,668,020 (GRCm39) splice site probably benign
R1469:Tacc1 UTSW 8 25,672,271 (GRCm39) missense probably benign 0.00
R1469:Tacc1 UTSW 8 25,672,271 (GRCm39) missense probably benign 0.00
R1785:Tacc1 UTSW 8 25,654,509 (GRCm39) missense probably damaging 1.00
R1786:Tacc1 UTSW 8 25,654,509 (GRCm39) missense probably damaging 1.00
R1889:Tacc1 UTSW 8 25,665,269 (GRCm39) missense probably damaging 0.99
R2131:Tacc1 UTSW 8 25,654,509 (GRCm39) missense probably damaging 1.00
R2133:Tacc1 UTSW 8 25,654,509 (GRCm39) missense probably damaging 1.00
R2419:Tacc1 UTSW 8 25,672,829 (GRCm39) missense possibly damaging 0.90
R4740:Tacc1 UTSW 8 25,672,581 (GRCm39) missense possibly damaging 0.94
R4793:Tacc1 UTSW 8 25,672,405 (GRCm39) missense possibly damaging 0.96
R4911:Tacc1 UTSW 8 25,672,622 (GRCm39) missense possibly damaging 0.66
R5177:Tacc1 UTSW 8 25,691,237 (GRCm39) missense probably damaging 1.00
R5320:Tacc1 UTSW 8 25,671,881 (GRCm39) missense probably benign 0.31
R5377:Tacc1 UTSW 8 25,672,299 (GRCm39) missense possibly damaging 0.94
R5452:Tacc1 UTSW 8 25,654,431 (GRCm39) missense probably null 1.00
R5930:Tacc1 UTSW 8 25,672,215 (GRCm39) missense probably benign
R5952:Tacc1 UTSW 8 25,672,011 (GRCm39) missense possibly damaging 0.85
R6767:Tacc1 UTSW 8 25,730,816 (GRCm39) start codon destroyed probably null
R7200:Tacc1 UTSW 8 25,731,656 (GRCm39) unclassified probably benign
R7464:Tacc1 UTSW 8 25,654,480 (GRCm39) missense probably damaging 1.00
R7599:Tacc1 UTSW 8 25,691,301 (GRCm39) start codon destroyed probably damaging 1.00
R8050:Tacc1 UTSW 8 25,659,230 (GRCm39) missense probably benign 0.12
R8205:Tacc1 UTSW 8 25,672,803 (GRCm39) missense probably benign 0.03
R8377:Tacc1 UTSW 8 25,672,299 (GRCm39) missense possibly damaging 0.68
R8418:Tacc1 UTSW 8 25,731,532 (GRCm39) missense probably damaging 1.00
R8780:Tacc1 UTSW 8 25,672,077 (GRCm39) missense probably benign 0.00
R9120:Tacc1 UTSW 8 25,659,255 (GRCm39) missense probably damaging 1.00
R9121:Tacc1 UTSW 8 25,659,255 (GRCm39) missense probably damaging 1.00
R9122:Tacc1 UTSW 8 25,659,255 (GRCm39) missense probably damaging 1.00
R9132:Tacc1 UTSW 8 25,672,151 (GRCm39) missense possibly damaging 0.71
R9238:Tacc1 UTSW 8 25,672,634 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- ACTAACTGTCCCTCAGGAGAC -3'
(R):5'- CTGGTTTGAAGGGCTGAAGC -3'

Sequencing Primer
(F):5'- TGTACCTGCTCCTGAGGATGAAAAC -3'
(R):5'- GGGCTGAAGCTCTCTCCTAG -3'
Posted On 2019-10-17