Incidental Mutation 'IGL00741:Tacc3'
ID14349
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tacc3
Ensembl Gene ENSMUSG00000037313
Gene Nametransforming, acidic coiled-coil containing protein 3
SynonymsAint, Arnt interacting protein
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00741
Quality Score
Status
Chromosome5
Chromosomal Location33658128-33678995 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 33669640 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 531 (Y531C)
Ref Sequence ENSEMBL: ENSMUSP00000110069 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074849] [ENSMUST00000079534] [ENSMUST00000114426] [ENSMUST00000201633]
Predicted Effect probably damaging
Transcript: ENSMUST00000074849
AA Change: Y538C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074394
Gene: ENSMUSG00000037313
AA Change: Y538C

DomainStartEndE-ValueType
low complexity region 127 143 N/A INTRINSIC
internal_repeat_1 144 212 2.67e-29 PROSPERO
internal_repeat_1 240 308 2.67e-29 PROSPERO
Pfam:TACC 435 631 2.6e-74 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000079534
AA Change: Y531C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078491
Gene: ENSMUSG00000037313
AA Change: Y531C

DomainStartEndE-ValueType
low complexity region 127 143 N/A INTRINSIC
internal_repeat_1 144 212 2.48e-29 PROSPERO
internal_repeat_1 240 308 2.48e-29 PROSPERO
Pfam:TACC 427 629 2.1e-73 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114426
AA Change: Y531C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110069
Gene: ENSMUSG00000037313
AA Change: Y531C

DomainStartEndE-ValueType
low complexity region 127 143 N/A INTRINSIC
internal_repeat_1 144 212 2.48e-29 PROSPERO
internal_repeat_1 240 308 2.48e-29 PROSPERO
Pfam:TACC 427 629 2.1e-73 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000138240
AA Change: Y95C
SMART Domains Protein: ENSMUSP00000115481
Gene: ENSMUSG00000037313
AA Change: Y95C

DomainStartEndE-ValueType
Pfam:TACC 1 136 5.8e-40 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000139888
AA Change: Y74C
SMART Domains Protein: ENSMUSP00000117407
Gene: ENSMUSG00000037313
AA Change: Y74C

DomainStartEndE-ValueType
Pfam:TACC 1 155 1.2e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201633
SMART Domains Protein: ENSMUSP00000144567
Gene: ENSMUSG00000037313

DomainStartEndE-ValueType
low complexity region 17 33 N/A INTRINSIC
internal_repeat_1 34 102 8.87e-21 PROSPERO
internal_repeat_1 130 198 8.87e-21 PROSPERO
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the transforming acidic colied-coil protein family. The encoded protein is a motor spindle protein that may play a role in stabilization of the mitotic spindle. This protein may also play a role in growth a differentiation of certain cancer cells. [provided by RefSeq, Nov 2011]
PHENOTYPE: Nullizygous mutations cause embryonic growth delay and prenatal death. Homozygotes for a null allele show hematopoietic deficiencies and severe facial clefts. Homozygotes for a hypomorphic allele die neonatally with malformed axial skeletons due to failed mitosis in mesenchymal sclerotome cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik T A 6: 40,964,834 probably benign Het
Abcc9 A C 6: 142,687,230 V262G probably benign Het
Adamtsl1 T C 4: 86,276,948 V534A probably damaging Het
Arhgap31 A G 16: 38,603,001 V901A probably damaging Het
C3 A G 17: 57,220,206 probably benign Het
Chd7 T C 4: 8,839,454 V1330A probably damaging Het
Dopey1 A G 9: 86,522,806 T255A possibly damaging Het
Eef1a2 T C 2: 181,153,010 Q132R possibly damaging Het
Pamr1 A C 2: 102,586,621 S93R possibly damaging Het
Tcerg1 A G 18: 42,568,453 E860G possibly damaging Het
Tmco4 T A 4: 138,996,574 probably null Het
Zfyve16 A G 13: 92,524,253 L16P probably damaging Het
Other mutations in Tacc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00742:Tacc3 APN 5 33661234 missense possibly damaging 0.86
IGL01390:Tacc3 APN 5 33668061 unclassified probably benign
R0714:Tacc3 UTSW 5 33671397 splice site probably benign
R1440:Tacc3 UTSW 5 33667977 missense probably benign 0.01
R1480:Tacc3 UTSW 5 33664597 missense probably benign 0.04
R1500:Tacc3 UTSW 5 33661308 missense probably damaging 0.99
R1851:Tacc3 UTSW 5 33668200 missense probably benign 0.03
R2136:Tacc3 UTSW 5 33671404 missense probably damaging 1.00
R2433:Tacc3 UTSW 5 33671739 missense possibly damaging 0.92
R4415:Tacc3 UTSW 5 33666684 splice site probably null
R4576:Tacc3 UTSW 5 33661497 intron probably benign
R4825:Tacc3 UTSW 5 33672013 missense probably damaging 1.00
R4960:Tacc3 UTSW 5 33671982 missense probably benign 0.30
R7121:Tacc3 UTSW 5 33667165 missense possibly damaging 0.71
R7464:Tacc3 UTSW 5 33661284 missense probably benign 0.12
R8071:Tacc3 UTSW 5 33663825 missense possibly damaging 0.92
R8425:Tacc3 UTSW 5 33664530 missense unknown
R8722:Tacc3 UTSW 5 33668209 missense probably damaging 1.00
RF020:Tacc3 UTSW 5 33661224 start codon destroyed probably null 0.53
Posted On2012-12-06