Incidental Mutation 'IGL00742:Tacc3'
ID 14348
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tacc3
Ensembl Gene ENSMUSG00000037313
Gene Name transforming, acidic coiled-coil containing protein 3
Synonyms Aint, Arnt interacting protein
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL00742
Quality Score
Status
Chromosome 5
Chromosomal Location 33658128-33678995 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 33661234 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 4 (H4Q)
Ref Sequence ENSEMBL: ENSMUSP00000110069 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019439] [ENSMUST00000074849] [ENSMUST00000079534] [ENSMUST00000114426] [ENSMUST00000152847] [ENSMUST00000201633]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000019439
SMART Domains Protein: ENSMUSP00000019439
Gene: ENSMUSG00000019295

DomainStartEndE-ValueType
Pfam:Tmpp129 17 361 6.8e-146 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000074849
AA Change: H4Q

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000074394
Gene: ENSMUSG00000037313
AA Change: H4Q

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 possibly damaging
Transcript: ENSMUST00000079534
AA Change: H4Q

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000078491
Gene: ENSMUSG00000037313
AA Change: H4Q

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 possibly damaging
Transcript: ENSMUST00000114426
AA Change: H4Q

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000110069
Gene: ENSMUSG00000037313
AA Change: H4Q

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 noncoding transcript
Transcript: ENSMUST00000125527
SMART Domains Protein: ENSMUSP00000115390
Gene: ENSMUSG00000019295

DomainStartEndE-ValueType
Pfam:Tmpp129 17 71 1e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139453
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140931
SMART Domains Protein: ENSMUSP00000114809
Gene: ENSMUSG00000019295

DomainStartEndE-ValueType
Pfam:Tmpp129 17 71 1e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152847
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck5 G T 15: 76,589,100 A50S possibly damaging Het
Adgrg2 C T X: 160,488,719 T778M probably damaging Het
Aimp1 G A 3: 132,671,981 Q208* probably null Het
Auh T C 13: 52,838,102 E210G probably damaging Het
Cdh7 T G 1: 110,065,626 N270K probably benign Het
Chrna9 A G 5: 65,971,115 E218G probably benign Het
Cntn5 G T 9: 9,976,297 T214K probably damaging Het
Col11a1 A T 3: 114,124,315 D766V unknown Het
Ddb1 A G 19: 10,610,760 N203S probably benign Het
Eefsec A T 6: 88,376,279 L136Q possibly damaging Het
Hdac6 T C X: 7,931,329 D1019G probably benign Het
Ift88 T A 14: 57,481,386 probably benign Het
Igf1r T A 7: 68,190,023 C693S probably benign Het
Il18r1 T A 1: 40,480,991 S181T probably benign Het
Krt35 T C 11: 100,093,959 Q291R probably damaging Het
Krt81 G A 15: 101,460,278 R365C probably benign Het
Lpgat1 A G 1: 191,760,209 E269G probably benign Het
Lpin3 A G 2: 160,893,998 D66G probably damaging Het
Map9 T C 3: 82,363,420 V97A probably benign Het
Mcm3ap A G 10: 76,492,935 E1129G probably damaging Het
Mmrn1 A T 6: 60,958,120 H200L probably damaging Het
Mycbp2 A G 14: 103,201,352 L2031S probably damaging Het
Nfatc1 C T 18: 80,698,014 R243H probably benign Het
Olfr615 A T 7: 103,561,356 Y293F probably damaging Het
Omg T A 11: 79,503,913 probably benign Het
Postn T A 3: 54,372,894 N413K possibly damaging Het
Ppp1r3a T C 6: 14,718,609 T769A probably benign Het
Pvr G A 7: 19,914,859 P244S probably damaging Het
Rabl6 T C 2: 25,588,687 E244G probably damaging Het
Satb2 A T 1: 56,831,541 N428K possibly damaging Het
Svopl A G 6: 38,031,017 probably null Het
Synpo2 G T 3: 123,113,876 P597Q probably damaging Het
Ugt2b5 C T 5: 87,127,814 G393S probably damaging Het
Vmn2r5 A G 3: 64,491,413 I715T possibly damaging Het
Other mutations in Tacc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00741:Tacc3 APN 5 33669640 missense probably damaging 1.00
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
R8809:Tacc3 UTSW 5 33666685 unclassified probably benign
R8987:Tacc3 UTSW 5 33668825 missense possibly damaging 0.67
R9485:Tacc3 UTSW 5 33664300 missense possibly damaging 0.47
RF020:Tacc3 UTSW 5 33661224 start codon destroyed probably null 0.53
Posted On 2012-12-06