Incidental Mutation 'R1893:Tacc2'
ID 211706
Institutional Source Beutler Lab
Gene Symbol Tacc2
Ensembl Gene ENSMUSG00000030852
Gene Name transforming, acidic coiled-coil containing protein 2
Synonyms
MMRRC Submission 039913-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1893 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 130179168-130366515 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 130227055 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 1247 (S1247G)
Ref Sequence ENSEMBL: ENSMUSP00000081561 (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: S1247G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000081561
Gene: ENSMUSG00000030852
AA Change: S1247G

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 unknown
Transcript: ENSMUST00000207918
AA Change: S1247G
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207999
Predicted Effect probably benign
Transcript: ENSMUST00000208722
Predicted Effect unknown
Transcript: ENSMUST00000215492
AA Change: S1266G
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 93.0%
Validation Efficiency 99% (99/100)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,415,928 (GRCm39) Y674H possibly damaging Het
Aars2 G A 17: 45,825,725 (GRCm39) R347Q probably benign Het
Abca15 A T 7: 119,939,776 (GRCm39) M293L possibly damaging Het
Abcb7 A T X: 103,386,142 (GRCm39) H97Q probably damaging Het
Aldh1l2 G T 10: 83,328,400 (GRCm39) N772K probably damaging Het
Ascc2 T A 11: 4,622,305 (GRCm39) L457Q probably benign Het
Aspm T A 1: 139,407,605 (GRCm39) I2164N probably damaging Het
Cabs1 A G 5: 88,127,894 (GRCm39) T182A probably benign Het
Carmil1 T C 13: 24,208,446 (GRCm39) E833G possibly damaging Het
Ccdc102a G A 8: 95,640,171 (GRCm39) T41M probably damaging Het
Cimap1c A G 9: 56,756,498 (GRCm39) Y173H probably benign Het
Clec2h T C 6: 128,647,795 (GRCm39) V48A probably benign Het
Cpb2 G A 14: 75,493,403 (GRCm39) V27I probably benign Het
Cr2 T C 1: 194,837,495 (GRCm39) H1201R probably benign Het
Cyp2d9 T C 15: 82,336,807 (GRCm39) V52A probably damaging Het
Cyp4a12a C A 4: 115,183,864 (GRCm39) N223K probably benign Het
Cyp7b1 G A 3: 18,150,731 (GRCm39) S336L possibly damaging Het
Dnah10 T C 5: 124,831,381 (GRCm39) V803A probably benign Het
Dnah17 T A 11: 117,957,794 (GRCm39) T2745S probably benign Het
Ep300 T A 15: 81,515,847 (GRCm39) probably benign Het
Epha3 A G 16: 63,388,762 (GRCm39) S829P probably damaging Het
Fads3 C A 19: 10,033,868 (GRCm39) H418N probably benign Het
Fat1 T C 8: 45,476,893 (GRCm39) S1980P probably damaging Het
Fgf20 T C 8: 40,732,844 (GRCm39) E198G possibly damaging Het
Fgl2 G A 5: 21,580,669 (GRCm39) R337H probably benign Het
Gbp2 G T 3: 142,335,933 (GRCm39) probably benign Het
Gja10 G A 4: 32,601,541 (GRCm39) S281L probably benign Het
Gm5422 G A 10: 31,125,609 (GRCm39) noncoding transcript Het
Gmpr T A 13: 45,674,423 (GRCm39) D129E possibly damaging Het
Gtf3c4 C T 2: 28,724,374 (GRCm39) V453I possibly damaging Het
Heatr6 T C 11: 83,648,140 (GRCm39) V111A probably benign Het
Hipk3 G A 2: 104,263,601 (GRCm39) R905W probably damaging Het
Hpn T A 7: 30,798,773 (GRCm39) D103V probably damaging Het
Ipcef1 G A 10: 6,850,680 (GRCm39) R304W probably damaging Het
Iqcb1 A G 16: 36,652,245 (GRCm39) D52G probably damaging Het
Klhdc7b C T 15: 89,271,898 (GRCm39) probably null Het
Klhl1 A T 14: 96,477,642 (GRCm39) probably null Het
Lrrn1 A T 6: 107,545,083 (GRCm39) I294F possibly damaging Het
Map3k1 A T 13: 111,904,567 (GRCm39) F406I possibly damaging Het
Map4k4 T A 1: 40,040,717 (GRCm39) V579E probably benign Het
Mapre2 A G 18: 23,986,774 (GRCm39) K62R probably damaging Het
Mdga1 A T 17: 30,068,200 (GRCm39) Y305N probably damaging Het
Mgl2 T A 11: 70,024,993 (GRCm39) probably null Het
Mnx1 C T 5: 29,682,828 (GRCm39) G149D unknown Het
Mtbp T A 15: 55,421,064 (GRCm39) S17T probably benign Het
Neu3 T C 7: 99,472,627 (GRCm39) T37A possibly damaging Het
Nr1i3 T C 1: 171,044,792 (GRCm39) probably null Het
Or10al2 A T 17: 37,983,747 (GRCm39) K278* probably null Het
Or10g6 A T 9: 39,934,270 (GRCm39) I194F possibly damaging Het
Or6ae1 T C 7: 139,742,734 (GRCm39) N43S probably damaging Het
Or9s18 T A 13: 65,300,806 (GRCm39) M256K possibly damaging Het
Osr2 A G 15: 35,300,608 (GRCm39) T55A possibly damaging Het
Palld A G 8: 61,969,655 (GRCm39) V981A probably damaging Het
Pbx1 A T 1: 168,030,979 (GRCm39) M213K possibly damaging Het
Pcdhb12 C A 18: 37,570,136 (GRCm39) H427Q probably benign Het
Perm1 C T 4: 156,302,340 (GRCm39) R295C probably benign Het
Phaf1 G T 8: 105,973,133 (GRCm39) V248F probably damaging Het
Polm T C 11: 5,785,574 (GRCm39) T162A possibly damaging Het
Prox1 A G 1: 189,892,715 (GRCm39) probably benign Het
Ptpn7 A T 1: 135,062,641 (GRCm39) T127S probably benign Het
Pxk C T 14: 8,151,507 (GRCm38) R441* probably null Het
Rab21 T C 10: 115,126,805 (GRCm39) T181A probably benign Het
Rab38 A T 7: 88,139,924 (GRCm39) T198S probably benign Het
Rnase4 C G 14: 51,342,395 (GRCm39) Q40E possibly damaging Het
Rnf213 T A 11: 119,307,274 (GRCm39) W645R probably damaging Het
Rnf8 A G 17: 29,840,524 (GRCm39) I51M probably damaging Het
Sbpl T A 17: 24,172,241 (GRCm39) D226V unknown Het
Sdf4 T G 4: 156,085,205 (GRCm39) I180S probably benign Het
Simc1 A G 13: 54,687,528 (GRCm39) K99R probably damaging Het
Slc2a4 T C 11: 69,837,398 (GRCm39) Q49R probably damaging Het
Slco1a4 T C 6: 141,780,342 (GRCm39) probably null Het
Slco5a1 C A 1: 12,964,696 (GRCm39) C527F probably damaging Het
Sox6 T A 7: 115,143,803 (GRCm39) N405I probably benign Het
Sphkap G A 1: 83,256,687 (GRCm39) P354L probably benign Het
Spi1 A G 2: 90,944,702 (GRCm39) D149G probably benign Het
Sptan1 T A 2: 29,910,472 (GRCm39) D1812E probably damaging Het
Sub1 A T 15: 11,991,130 (GRCm39) V37E possibly damaging Het
Sult2a6 T C 7: 13,959,814 (GRCm39) T240A probably benign Het
Taf4 T C 2: 179,574,823 (GRCm39) D594G probably damaging Het
Tap1 T G 17: 34,413,915 (GRCm39) D643E probably damaging Het
Ticam1 T C 17: 56,578,894 (GRCm39) N67S probably benign Het
Tlr6 A G 5: 65,110,556 (GRCm39) F784L probably damaging Het
Tmprss15 A G 16: 78,868,306 (GRCm39) V202A probably benign Het
Trp53bp2 T C 1: 182,259,193 (GRCm39) V82A probably benign Het
Ube2o C T 11: 116,439,661 (GRCm39) V170I possibly damaging Het
Ube2q2l A G 6: 136,378,825 (GRCm39) S2P possibly damaging Het
Vmn1r177 G A 7: 23,565,573 (GRCm39) T101I probably benign Het
Vmn2r68 A T 7: 84,883,867 (GRCm39) Y79* probably null Het
Wdr35 A C 12: 9,035,994 (GRCm39) Y255S probably benign Het
Zfp507 A T 7: 35,502,052 (GRCm39) probably benign Het
Zfp688 G A 7: 127,018,409 (GRCm39) R239C probably damaging Het
Zfp74 T A 7: 29,635,470 (GRCm39) probably null Het
Zfp932 A G 5: 110,157,069 (GRCm39) N223D possibly damaging 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
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
R5372:Tacc2 UTSW 7 130,224,990 (GRCm39) missense probably benign 0.09
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'- TAGTGCTGCCAGGAAGGATG -3'
(R):5'- GGGTAAGTTCTACTGGCCTC -3'

Sequencing Primer
(F):5'- CTGCCAGGAAGGATGCAGAAG -3'
(R):5'- TGCTGCATCCTCACTGGCAG -3'
Posted On 2014-06-30