Incidental Mutation 'R7111:Tacc2'
ID 551513
Institutional Source Beutler Lab
Gene Symbol Tacc2
Ensembl Gene ENSMUSG00000030852
Gene Name transforming, acidic coiled-coil containing protein 2
Synonyms
MMRRC Submission 045203-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7111 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 130179168-130366515 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 130330618 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 191 (A191T)
Ref Sequence ENSEMBL: ENSMUSP00000146848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033141] [ENSMUST00000059145] [ENSMUST00000084513] [ENSMUST00000124096] [ENSMUST00000207282] [ENSMUST00000207376] [ENSMUST00000207395] [ENSMUST00000207549] [ENSMUST00000207789] [ENSMUST00000208722] [ENSMUST00000208743] [ENSMUST00000209108]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000033141
AA Change: A191T

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000033141
Gene: ENSMUSG00000030852
AA Change: A191T

DomainStartEndE-ValueType
low complexity region 37 63 N/A INTRINSIC
internal_repeat_1 71 181 1.04e-5 PROSPERO
low complexity region 235 246 N/A INTRINSIC
internal_repeat_2 258 345 6.53e-5 PROSPERO
internal_repeat_1 373 456 1.04e-5 PROSPERO
low complexity region 461 476 N/A INTRINSIC
low complexity region 493 504 N/A INTRINSIC
low complexity region 538 552 N/A INTRINSIC
internal_repeat_2 629 716 6.53e-5 PROSPERO
coiled coil region 763 790 N/A INTRINSIC
Pfam:TACC 829 1035 3.4e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000059145
AA Change: A301T

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000061242
Gene: ENSMUSG00000030852
AA Change: A301T

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 possibly damaging
Transcript: ENSMUST00000084513
AA Change: A2008T

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000081561
Gene: ENSMUSG00000030852
AA Change: A2008T

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: ENSMUST00000207282
AA Change: A191T

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000207376
Predicted Effect probably benign
Transcript: ENSMUST00000207395
AA Change: A47T

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000207549
Predicted Effect probably benign
Transcript: ENSMUST00000207789
Predicted Effect possibly damaging
Transcript: ENSMUST00000208722
AA Change: A301T

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000208743
AA Change: A191T

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000209108
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (54/54)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 T G 19: 57,062,309 (GRCm39) N384T probably benign Het
Agap3 A G 5: 24,706,396 (GRCm39) Y843C probably damaging Het
Aldh9a1 T A 1: 167,182,021 (GRCm39) V118E probably benign Het
Arhgef26 T A 3: 62,252,689 (GRCm39) S414T possibly damaging Het
Armc9 T C 1: 86,087,717 (GRCm39) Y18H probably damaging Het
Bod1l A G 5: 41,970,463 (GRCm39) probably null Het
Casp1 A T 9: 5,299,816 (GRCm39) E96D probably benign Het
Ccdc171 A G 4: 83,611,998 (GRCm39) I898V probably benign Het
Cd79b T C 11: 106,205,365 (GRCm39) I42M possibly damaging Het
Cdca7 G A 2: 72,315,575 (GRCm39) R346H probably damaging Het
Cdh20 T C 1: 110,065,638 (GRCm39) S176P Het
Cdh23 T A 10: 60,222,823 (GRCm39) D1200V probably damaging Het
Cdkn1c T C 7: 143,014,326 (GRCm39) D40G possibly damaging Het
Ckap5 G A 2: 91,437,917 (GRCm39) R1666H probably damaging Het
Cxcl1 A G 5: 91,039,182 (GRCm39) T5A unknown Het
Dnah2 A C 11: 69,337,579 (GRCm39) probably null Het
Dnai3 T C 3: 145,803,028 (GRCm39) I54M probably damaging Het
Ephb3 A T 16: 21,037,577 (GRCm39) K500* probably null Het
Fam13c T A 10: 70,390,336 (GRCm39) H533Q probably benign Het
Fat4 T A 3: 39,064,682 (GRCm39) D4879E probably damaging Het
Grk6 G T 13: 55,606,733 (GRCm39) W511L probably damaging Het
Hivep3 G C 4: 119,952,431 (GRCm39) S249T possibly damaging Het
Iqch T A 9: 63,419,599 (GRCm39) Y496F possibly damaging Het
Itga2 T C 13: 115,037,066 (GRCm39) I21V unknown Het
Itpr2 A T 6: 146,226,554 (GRCm39) C1397S probably damaging Het
Krt86 A T 15: 101,374,498 (GRCm39) Y297F possibly damaging Het
Limch1 G T 5: 67,182,519 (GRCm39) probably null Het
Mfsd6 G T 1: 52,748,917 (GRCm39) probably null Het
Mx1 A G 16: 97,256,376 (GRCm39) V181A probably damaging Het
Nme8 G A 13: 19,859,817 (GRCm39) R268W probably benign Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or10p1 T A 10: 129,443,829 (GRCm39) I174F possibly damaging Het
Or5d36 G A 2: 87,901,000 (GRCm39) T242I probably damaging Het
Pappa2 T A 1: 158,784,096 (GRCm39) I305F probably benign Het
Pdlim3 A G 8: 46,370,539 (GRCm39) K232E probably damaging Het
Rcn1 T C 2: 105,219,359 (GRCm39) E278G probably damaging Het
Ros1 T C 10: 52,057,906 (GRCm39) D47G probably benign Het
Sema4c G A 1: 36,592,160 (GRCm39) T229M possibly damaging Het
Serpina3j T A 12: 104,283,792 (GRCm39) W297R probably damaging Het
Serpinb11 A G 1: 107,304,614 (GRCm39) E193G probably benign Het
Shank2 A G 7: 143,965,289 (GRCm39) I966V probably benign Het
Siglece T C 7: 43,309,327 (GRCm39) D77G probably damaging Het
Sqstm1 G T 11: 50,093,418 (GRCm39) Q327K probably benign Het
Stip1 C T 19: 6,999,178 (GRCm39) G467S possibly damaging Het
Styxl2 T C 1: 165,954,723 (GRCm39) E9G possibly damaging Het
Svep1 A T 4: 58,118,207 (GRCm39) D838E possibly damaging Het
Tnfrsf18 T A 4: 156,113,168 (GRCm39) W285R probably damaging Het
Tspan9 T C 6: 127,942,726 (GRCm39) D167G probably null Het
Uaca C T 9: 60,779,120 (GRCm39) T1169I probably benign Het
Umod G T 7: 119,076,369 (GRCm39) Y132* probably null Het
Vmn2r31 A G 7: 7,399,480 (GRCm39) F159S probably damaging Het
Vmn2r82 C T 10: 79,214,605 (GRCm39) T196I probably benign Het
Wrap53 A T 11: 69,453,305 (GRCm39) W379R probably damaging Het
Zfp866 A T 8: 70,219,221 (GRCm39) V133D probably benign 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
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
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'- AGCGGGACTTACAACTTAGAC -3'
(R):5'- CTGGTGCTAAGTGTTCCTCAC -3'

Sequencing Primer
(F):5'- CATCGAGCTGGTGGATAACTTCC -3'
(R):5'- ACTGGGGACTGGACTCTCTTC -3'
Posted On 2019-05-15