Incidental Mutation 'IGL00741:Tacc3'
ID 14349
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tacc3
Ensembl Gene ENSMUSG00000037313
Gene Name transforming, acidic coiled-coil containing protein 3
Synonyms Arnt interacting protein, Aint
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00741
Quality Score
Status
Chromosome 5
Chromosomal Location 33815472-33836339 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 33826984 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold no structure available at present
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: 40,941,768 (GRCm39) probably benign Het
Abcc9 A C 6: 142,632,956 (GRCm39) V262G probably benign Het
Adamtsl1 T C 4: 86,195,185 (GRCm39) V534A probably damaging Het
Arhgap31 A G 16: 38,423,363 (GRCm39) V901A probably damaging Het
C3 A G 17: 57,527,206 (GRCm39) probably benign Het
Chd7 T C 4: 8,839,454 (GRCm39) V1330A probably damaging Het
Dop1a A G 9: 86,404,859 (GRCm39) T255A possibly damaging Het
Eef1a2 T C 2: 180,794,803 (GRCm39) Q132R possibly damaging Het
Pamr1 A C 2: 102,416,966 (GRCm39) S93R possibly damaging Het
Tcerg1 A G 18: 42,701,518 (GRCm39) E860G possibly damaging Het
Tmco4 T A 4: 138,723,885 (GRCm39) probably null Het
Zfyve16 A G 13: 92,660,761 (GRCm39) L16P probably damaging Het
Other mutations in Tacc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00742:Tacc3 APN 5 33,818,578 (GRCm39) missense possibly damaging 0.86
IGL01390:Tacc3 APN 5 33,825,405 (GRCm39) unclassified probably benign
R0714:Tacc3 UTSW 5 33,828,741 (GRCm39) splice site probably benign
R1440:Tacc3 UTSW 5 33,825,321 (GRCm39) missense probably benign 0.01
R1480:Tacc3 UTSW 5 33,821,941 (GRCm39) missense probably benign 0.04
R1500:Tacc3 UTSW 5 33,818,652 (GRCm39) missense probably damaging 0.99
R1851:Tacc3 UTSW 5 33,825,544 (GRCm39) missense probably benign 0.03
R2136:Tacc3 UTSW 5 33,828,748 (GRCm39) missense probably damaging 1.00
R2433:Tacc3 UTSW 5 33,829,083 (GRCm39) missense possibly damaging 0.92
R4415:Tacc3 UTSW 5 33,824,028 (GRCm39) splice site probably null
R4576:Tacc3 UTSW 5 33,818,841 (GRCm39) intron probably benign
R4825:Tacc3 UTSW 5 33,829,357 (GRCm39) missense probably damaging 1.00
R4960:Tacc3 UTSW 5 33,829,326 (GRCm39) missense probably benign 0.30
R7121:Tacc3 UTSW 5 33,824,509 (GRCm39) missense possibly damaging 0.71
R7464:Tacc3 UTSW 5 33,818,628 (GRCm39) missense probably benign 0.12
R8071:Tacc3 UTSW 5 33,821,169 (GRCm39) missense possibly damaging 0.92
R8425:Tacc3 UTSW 5 33,821,874 (GRCm39) missense unknown
R8722:Tacc3 UTSW 5 33,825,553 (GRCm39) missense probably damaging 1.00
R8809:Tacc3 UTSW 5 33,824,029 (GRCm39) unclassified probably benign
R8987:Tacc3 UTSW 5 33,826,169 (GRCm39) missense possibly damaging 0.67
R9485:Tacc3 UTSW 5 33,821,644 (GRCm39) missense possibly damaging 0.47
RF020:Tacc3 UTSW 5 33,818,568 (GRCm39) start codon destroyed probably null 0.53
Posted On 2012-12-06