Incidental Mutation 'R5372:Tacc2'
ID 428796
Institutional Source Beutler Lab
Gene Symbol Tacc2
Ensembl Gene ENSMUSG00000030852
Gene Name transforming, acidic coiled-coil containing protein 2
Synonyms
MMRRC Submission 042948-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5372 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 130179168-130366515 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 130224990 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 558 (H558Q)
Ref Sequence ENSEMBL: ENSMUSP00000146419 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059145] [ENSMUST00000084513] [ENSMUST00000124096] [ENSMUST00000207789] [ENSMUST00000207918] [ENSMUST00000208722] [ENSMUST00000215492]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000059145
SMART Domains Protein: ENSMUSP00000061242
Gene: ENSMUSG00000030852

DomainStartEndE-ValueType
low complexity region 87 102 N/A INTRINSIC
low complexity region 147 173 N/A INTRINSIC
internal_repeat_1 181 291 2.03e-5 PROSPERO
low complexity region 345 356 N/A INTRINSIC
internal_repeat_1 483 566 2.03e-5 PROSPERO
low complexity region 571 586 N/A INTRINSIC
low complexity region 603 614 N/A INTRINSIC
low complexity region 648 662 N/A INTRINSIC
coiled coil region 873 900 N/A INTRINSIC
Pfam:TACC 939 1145 4e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000084513
AA Change: H558Q

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000081561
Gene: ENSMUSG00000030852
AA Change: H558Q

DomainStartEndE-ValueType
internal_repeat_1 19 346 3.83e-6 PROSPERO
low complexity region 398 410 N/A INTRINSIC
low complexity region 413 431 N/A INTRINSIC
internal_repeat_1 778 1068 3.83e-6 PROSPERO
low complexity region 1397 1415 N/A INTRINSIC
low complexity region 1723 1739 N/A INTRINSIC
low complexity region 1794 1809 N/A INTRINSIC
low complexity region 1854 1880 N/A INTRINSIC
low complexity region 2052 2063 N/A INTRINSIC
low complexity region 2278 2293 N/A INTRINSIC
low complexity region 2310 2321 N/A INTRINSIC
low complexity region 2355 2369 N/A INTRINSIC
coiled coil region 2606 2633 N/A INTRINSIC
Pfam:TACC 2673 2873 6.1e-87 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124096
SMART Domains Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
Pfam:Pkinase 1 118 4.8e-19 PFAM
Pfam:Pkinase_Tyr 1 118 1.7e-50 PFAM
low complexity region 146 160 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000207789
Predicted Effect probably benign
Transcript: ENSMUST00000207918
AA Change: H558Q

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207999
Predicted Effect probably benign
Transcript: ENSMUST00000208722
Predicted Effect probably benign
Transcript: ENSMUST00000215492
AA Change: H577Q

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 96% (89/93)
MGI Phenotype FUNCTION: This gene encodes a member of the transforming, acidic coiled-coil (TACC) family of proteins. Members of this family are centrosomal proteins that interact with microtubules and tubulin. TACC proteins are thought to be involved in centrosome/mitotic spindle dynamics and gene regulation. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are healthy and fertile and do not display any increase in tumorigenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,848,988 (GRCm39) D108E probably damaging Het
Abhd12b A G 12: 70,227,800 (GRCm39) D194G probably damaging Het
Adck5 A G 15: 76,478,707 (GRCm39) probably benign Het
Adgrb3 C T 1: 25,167,940 (GRCm39) V792I probably benign Het
Anxa8 G A 14: 33,815,868 (GRCm39) V174M probably damaging Het
Apol9b A T 15: 77,619,920 (GRCm39) R239W probably benign Het
Arhgap26 A G 18: 38,775,509 (GRCm39) noncoding transcript Het
Atrnl1 A G 19: 57,743,968 (GRCm39) Y1190C probably benign Het
Brinp3 T G 1: 146,707,464 (GRCm39) L376R probably damaging Het
Btbd2 A T 10: 80,484,475 (GRCm39) M132K probably damaging Het
C130073F10Rik A T 4: 101,747,684 (GRCm39) I115K probably damaging Het
C1ra T A 6: 124,498,584 (GRCm39) Y426N probably damaging Het
Cacna1b A T 2: 24,623,971 (GRCm39) V203E probably damaging Het
Catsperg1 T A 7: 28,910,137 (GRCm39) D68V probably benign Het
Ccdc158 A C 5: 92,780,419 (GRCm39) S885A possibly damaging Het
Cdc42bpa T C 1: 179,892,544 (GRCm39) V236A probably damaging Het
Cdca7 A T 2: 72,312,793 (GRCm39) E176D probably damaging Het
Cdk17 A G 10: 93,061,901 (GRCm39) D211G probably benign Het
Clca3a2 A C 3: 144,503,286 (GRCm39) M888R probably benign Het
Clcn7 T A 17: 25,376,153 (GRCm39) M568K possibly damaging Het
Clip1 G T 5: 123,768,303 (GRCm39) N811K probably benign Het
Col12a1 T A 9: 79,585,648 (GRCm39) Y1243F probably damaging Het
Dctn1 T A 6: 83,167,192 (GRCm39) D315E probably damaging Het
Dgcr2 T C 16: 17,690,508 (GRCm39) T41A probably benign Het
Dync2h1 G A 9: 7,176,962 (GRCm39) probably benign Het
Ep300 A G 15: 81,521,031 (GRCm39) I1264V unknown Het
Fam167b A T 4: 129,472,092 (GRCm39) L26Q possibly damaging Het
Fam178b T A 1: 36,603,929 (GRCm39) I457F possibly damaging Het
Fgd4 A T 16: 16,302,155 (GRCm39) N133K probably benign Het
Fndc1 C G 17: 7,984,042 (GRCm39) V1295L unknown Het
Gad2 A T 2: 22,580,255 (GRCm39) D552V possibly damaging Het
Hars2 T C 18: 36,923,534 (GRCm39) Y361H possibly damaging Het
Heca T A 10: 17,790,887 (GRCm39) S390C probably damaging Het
Hephl1 G T 9: 15,009,195 (GRCm39) Y132* probably null Het
Hormad1 T A 3: 95,483,735 (GRCm39) D182E probably damaging Het
Ifna15 G A 4: 88,476,338 (GRCm39) P49S probably damaging Het
Khsrp T C 17: 57,331,292 (GRCm39) T429A possibly damaging Het
Magi2 A G 5: 20,907,108 (GRCm39) Q1094R possibly damaging Het
Map3k11 T A 19: 5,740,990 (GRCm39) I239K probably damaging Het
Mtus2 A G 5: 148,250,222 (GRCm39) T1319A probably damaging Het
Nup54 A G 5: 92,565,716 (GRCm39) I406T probably damaging Het
Nxpe2 T C 9: 48,250,819 (GRCm39) T43A possibly damaging Het
Nynrin A G 14: 56,105,948 (GRCm39) E889G probably benign Het
Opa1 A C 16: 29,404,937 (GRCm39) H45P probably benign Het
Or14c44 T A 7: 86,062,176 (GRCm39) I202N possibly damaging Het
Or4f60 A G 2: 111,902,454 (GRCm39) I158T probably benign Het
Or56b2j A G 7: 104,353,002 (GRCm39) D76G probably benign Het
Or8a1b T C 9: 37,623,234 (GRCm39) M114V possibly damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Papola A G 12: 105,793,309 (GRCm39) K543R probably benign Het
Plcxd3 G A 15: 4,604,270 (GRCm39) V293I probably benign Het
Polr2g T C 19: 8,774,667 (GRCm39) Y72C probably damaging Het
Ppp1r21 A G 17: 88,858,103 (GRCm39) K205E probably benign Het
Ptpre A G 7: 135,255,669 (GRCm39) K53E possibly damaging Het
Rasal3 T C 17: 32,610,318 (GRCm39) K990E probably benign Het
Rgs3 A T 4: 62,570,934 (GRCm39) probably benign Het
Rhd A G 4: 134,611,943 (GRCm39) T254A possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Scube3 G T 17: 28,371,456 (GRCm39) C57F probably damaging Het
Sh2d5 A G 4: 137,982,010 (GRCm39) D57G possibly damaging Het
Slc12a6 T A 2: 112,177,705 (GRCm39) L608* probably null Het
Slk A T 19: 47,613,832 (GRCm39) N896I probably damaging Het
Smc6 A G 12: 11,332,431 (GRCm39) D211G probably damaging Het
Sox6 A T 7: 115,149,386 (GRCm39) Y371* probably null Het
Srcap G A 7: 127,156,785 (GRCm39) probably null Het
Stard5 T A 7: 83,282,428 (GRCm39) D80E probably damaging Het
Supv3l1 C T 10: 62,268,136 (GRCm39) V570M probably damaging Het
Syt7 G T 19: 10,403,985 (GRCm39) V180L probably damaging Het
Tas2r120 T A 6: 132,634,446 (GRCm39) M176K possibly damaging Het
Tmem135 A T 7: 88,814,382 (GRCm39) probably null Het
Trim35 T C 14: 66,534,715 (GRCm39) V66A possibly damaging Het
Tspan12 A G 6: 21,772,698 (GRCm39) S284P probably benign Het
Ttll3 A T 6: 113,378,382 (GRCm39) K257* probably null Het
Uggt1 C A 1: 36,283,141 (GRCm39) probably benign Het
Vmn2r7 T A 3: 64,623,745 (GRCm39) I283F probably damaging Het
Wdfy2 T G 14: 63,192,334 (GRCm39) H363Q probably damaging Het
Wdr4 T A 17: 31,729,554 (GRCm39) K95N probably damaging Het
Zfp141 T C 7: 42,126,620 (GRCm39) N91S possibly damaging Het
Zfp383 C T 7: 29,614,695 (GRCm39) R317* probably null Het
Other mutations in Tacc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00836:Tacc2 APN 7 130,360,898 (GRCm39) missense probably damaging 1.00
IGL01396:Tacc2 APN 7 130,360,919 (GRCm39) missense probably damaging 0.98
IGL01621:Tacc2 APN 7 130,331,498 (GRCm39) missense probably damaging 0.99
IGL02000:Tacc2 APN 7 130,330,898 (GRCm39) splice site probably null
IGL02075:Tacc2 APN 7 130,330,582 (GRCm39) missense probably benign 0.03
IGL02201:Tacc2 APN 7 130,227,942 (GRCm39) missense possibly damaging 0.84
IGL02205:Tacc2 APN 7 130,228,412 (GRCm39) missense probably damaging 1.00
IGL02399:Tacc2 APN 7 130,225,129 (GRCm39) missense probably benign 0.15
IGL02456:Tacc2 APN 7 130,227,991 (GRCm39) missense probably benign 0.35
IGL02559:Tacc2 APN 7 130,360,997 (GRCm39) missense probably damaging 1.00
IGL02734:Tacc2 APN 7 130,227,829 (GRCm39) missense probably damaging 0.98
IGL02800:Tacc2 APN 7 130,225,809 (GRCm39) missense probably benign 0.40
IGL02938:Tacc2 APN 7 130,330,671 (GRCm39) missense probably damaging 1.00
IGL03031:Tacc2 APN 7 130,225,585 (GRCm39) missense possibly damaging 0.94
IGL03278:Tacc2 APN 7 130,335,298 (GRCm39) critical splice donor site probably null
IGL03283:Tacc2 APN 7 130,343,996 (GRCm39) missense possibly damaging 0.47
IGL03371:Tacc2 APN 7 130,227,791 (GRCm39) missense possibly damaging 0.90
aces UTSW 7 130,335,258 (GRCm39) missense probably damaging 1.00
Jacks UTSW 7 130,227,494 (GRCm39) missense probably damaging 0.98
kings UTSW 7 130,225,213 (GRCm39) missense probably damaging 0.96
R0002:Tacc2 UTSW 7 130,223,515 (GRCm39) missense probably damaging 0.99
R0119:Tacc2 UTSW 7 130,223,605 (GRCm39) missense probably damaging 0.98
R0244:Tacc2 UTSW 7 130,353,555 (GRCm39) splice site probably benign
R0619:Tacc2 UTSW 7 130,318,483 (GRCm39) missense probably damaging 1.00
R0624:Tacc2 UTSW 7 130,179,239 (GRCm39) missense probably damaging 0.99
R0632:Tacc2 UTSW 7 130,227,325 (GRCm39) nonsense probably null
R1015:Tacc2 UTSW 7 130,225,795 (GRCm39) missense probably benign
R1081:Tacc2 UTSW 7 130,330,304 (GRCm39) missense possibly damaging 0.46
R1086:Tacc2 UTSW 7 130,228,227 (GRCm39) missense possibly damaging 0.94
R1351:Tacc2 UTSW 7 130,264,733 (GRCm39) intron probably benign
R1538:Tacc2 UTSW 7 130,227,149 (GRCm39) missense probably benign 0.03
R1743:Tacc2 UTSW 7 130,228,328 (GRCm39) nonsense probably null
R1771:Tacc2 UTSW 7 130,343,970 (GRCm39) missense probably damaging 1.00
R1876:Tacc2 UTSW 7 130,225,475 (GRCm39) missense probably benign 0.38
R1893:Tacc2 UTSW 7 130,227,055 (GRCm39) missense probably benign 0.01
R1899:Tacc2 UTSW 7 130,225,932 (GRCm39) missense possibly damaging 0.81
R2005:Tacc2 UTSW 7 130,333,280 (GRCm39) missense probably damaging 1.00
R2131:Tacc2 UTSW 7 130,223,587 (GRCm39) missense possibly damaging 0.90
R2338:Tacc2 UTSW 7 130,335,299 (GRCm39) splice site probably null
R2407:Tacc2 UTSW 7 130,223,770 (GRCm39) missense possibly damaging 0.65
R3051:Tacc2 UTSW 7 130,227,226 (GRCm39) missense possibly damaging 0.81
R3052:Tacc2 UTSW 7 130,227,226 (GRCm39) missense possibly damaging 0.81
R3053:Tacc2 UTSW 7 130,227,226 (GRCm39) missense possibly damaging 0.81
R3116:Tacc2 UTSW 7 130,360,979 (GRCm39) missense probably damaging 1.00
R3412:Tacc2 UTSW 7 130,336,724 (GRCm39) missense probably benign 0.02
R3683:Tacc2 UTSW 7 130,226,800 (GRCm39) missense probably benign 0.40
R3685:Tacc2 UTSW 7 130,226,800 (GRCm39) missense probably benign 0.40
R3872:Tacc2 UTSW 7 130,224,152 (GRCm39) missense probably benign 0.02
R4063:Tacc2 UTSW 7 130,330,852 (GRCm39) missense probably damaging 0.97
R4410:Tacc2 UTSW 7 130,343,941 (GRCm39) missense possibly damaging 0.80
R4434:Tacc2 UTSW 7 130,225,271 (GRCm39) missense probably damaging 0.96
R4438:Tacc2 UTSW 7 130,225,271 (GRCm39) missense probably damaging 0.96
R4618:Tacc2 UTSW 7 130,227,946 (GRCm39) missense probably benign 0.10
R4674:Tacc2 UTSW 7 130,226,591 (GRCm39) missense possibly damaging 0.75
R4742:Tacc2 UTSW 7 130,227,697 (GRCm39) missense probably benign 0.00
R4934:Tacc2 UTSW 7 130,330,318 (GRCm39) missense probably damaging 1.00
R4947:Tacc2 UTSW 7 130,227,629 (GRCm39) missense probably damaging 0.98
R4964:Tacc2 UTSW 7 130,330,507 (GRCm39) missense probably damaging 1.00
R4966:Tacc2 UTSW 7 130,330,507 (GRCm39) missense probably damaging 1.00
R4967:Tacc2 UTSW 7 130,225,678 (GRCm39) missense probably damaging 0.99
R5052:Tacc2 UTSW 7 130,336,744 (GRCm39) missense probably damaging 1.00
R5276:Tacc2 UTSW 7 130,331,047 (GRCm39) missense probably damaging 1.00
R5330:Tacc2 UTSW 7 130,335,258 (GRCm39) missense probably damaging 1.00
R5331:Tacc2 UTSW 7 130,335,258 (GRCm39) missense probably damaging 1.00
R5556:Tacc2 UTSW 7 130,276,336 (GRCm39) missense probably damaging 0.97
R5645:Tacc2 UTSW 7 130,225,781 (GRCm39) missense possibly damaging 0.80
R5886:Tacc2 UTSW 7 130,330,850 (GRCm39) missense probably benign 0.18
R5996:Tacc2 UTSW 7 130,225,213 (GRCm39) missense probably damaging 0.96
R6074:Tacc2 UTSW 7 130,227,165 (GRCm39) missense possibly damaging 0.92
R6127:Tacc2 UTSW 7 130,227,845 (GRCm39) missense possibly damaging 0.92
R6156:Tacc2 UTSW 7 130,227,494 (GRCm39) missense probably damaging 0.98
R6298:Tacc2 UTSW 7 130,228,255 (GRCm39) missense probably benign 0.26
R6444:Tacc2 UTSW 7 130,225,142 (GRCm39) missense possibly damaging 0.46
R6533:Tacc2 UTSW 7 130,224,567 (GRCm39) missense possibly damaging 0.94
R6724:Tacc2 UTSW 7 130,330,492 (GRCm39) missense probably damaging 1.00
R7111:Tacc2 UTSW 7 130,330,618 (GRCm39) missense probably benign 0.16
R7150:Tacc2 UTSW 7 130,330,807 (GRCm39) missense probably benign
R7290:Tacc2 UTSW 7 130,331,103 (GRCm39) missense probably benign 0.07
R7404:Tacc2 UTSW 7 130,225,066 (GRCm39) missense probably benign 0.22
R7460:Tacc2 UTSW 7 130,226,363 (GRCm39) missense probably benign 0.39
R7651:Tacc2 UTSW 7 130,224,884 (GRCm39) missense probably benign 0.25
R7666:Tacc2 UTSW 7 130,318,544 (GRCm39) start gained probably benign
R7695:Tacc2 UTSW 7 130,330,633 (GRCm39) missense probably benign 0.08
R7766:Tacc2 UTSW 7 130,345,328 (GRCm39) missense probably damaging 1.00
R7793:Tacc2 UTSW 7 130,224,843 (GRCm39) missense probably benign 0.34
R7861:Tacc2 UTSW 7 130,227,161 (GRCm39) missense probably benign 0.00
R8204:Tacc2 UTSW 7 130,226,159 (GRCm39) missense probably damaging 0.97
R8244:Tacc2 UTSW 7 130,330,406 (GRCm39) missense probably damaging 1.00
R8245:Tacc2 UTSW 7 130,331,303 (GRCm39) missense probably damaging 1.00
R8283:Tacc2 UTSW 7 130,227,034 (GRCm39) missense probably benign 0.02
R8348:Tacc2 UTSW 7 130,225,019 (GRCm39) missense possibly damaging 0.84
R8369:Tacc2 UTSW 7 130,223,888 (GRCm39) missense probably damaging 0.98
R8381:Tacc2 UTSW 7 130,225,972 (GRCm39) missense probably benign 0.00
R8804:Tacc2 UTSW 7 130,294,693 (GRCm39) missense probably benign
R8809:Tacc2 UTSW 7 130,276,421 (GRCm39) missense possibly damaging 0.94
R8835:Tacc2 UTSW 7 130,228,258 (GRCm39) missense probably benign 0.00
R8880:Tacc2 UTSW 7 130,318,564 (GRCm39) missense possibly damaging 0.86
R8918:Tacc2 UTSW 7 130,227,823 (GRCm39) missense probably benign 0.00
R8936:Tacc2 UTSW 7 130,228,367 (GRCm39) missense possibly damaging 0.94
R8953:Tacc2 UTSW 7 130,227,487 (GRCm39) missense probably benign 0.00
R9026:Tacc2 UTSW 7 130,225,266 (GRCm39) missense probably damaging 1.00
R9193:Tacc2 UTSW 7 130,228,304 (GRCm39) missense probably benign 0.04
R9221:Tacc2 UTSW 7 130,226,209 (GRCm39) missense probably benign 0.00
R9221:Tacc2 UTSW 7 130,226,058 (GRCm39) missense probably damaging 0.98
R9222:Tacc2 UTSW 7 130,227,985 (GRCm39) missense probably benign 0.00
R9264:Tacc2 UTSW 7 130,228,533 (GRCm39) missense probably damaging 1.00
R9312:Tacc2 UTSW 7 130,223,978 (GRCm39) missense probably benign 0.00
R9380:Tacc2 UTSW 7 130,226,771 (GRCm39) missense possibly damaging 0.86
R9515:Tacc2 UTSW 7 130,366,041 (GRCm39) missense probably damaging 1.00
R9705:Tacc2 UTSW 7 130,361,018 (GRCm39) missense probably damaging 1.00
X0010:Tacc2 UTSW 7 130,336,787 (GRCm39) missense probably damaging 1.00
Z1176:Tacc2 UTSW 7 130,346,327 (GRCm39) missense probably damaging 1.00
Z1176:Tacc2 UTSW 7 130,226,000 (GRCm39) missense possibly damaging 0.59
Z1176:Tacc2 UTSW 7 130,225,100 (GRCm39) missense probably benign 0.01
Z1177:Tacc2 UTSW 7 130,336,679 (GRCm39) missense possibly damaging 0.96
Z1177:Tacc2 UTSW 7 130,227,504 (GRCm39) missense probably damaging 0.99
Z1177:Tacc2 UTSW 7 130,226,710 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCCCATGGCATTTCAAATGAAAG -3'
(R):5'- TGAGGTAGCTGTGTCAGTCAC -3'

Sequencing Primer
(F):5'- GTTCAGTGGAACCAACTGATG -3'
(R):5'- TCAGTCACATGGGATTCAGC -3'
Posted On 2016-09-06