Incidental Mutation 'R7150:Tacc2'
ID 554061
Institutional Source Beutler Lab
Gene Symbol Tacc2
Ensembl Gene ENSMUSG00000030852
Gene Name transforming, acidic coiled-coil containing protein 2
Synonyms
MMRRC Submission 045252-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7150 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 130179168-130366515 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 130330807 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 254 (T254A)
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: T254A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000033141
Gene: ENSMUSG00000030852
AA Change: T254A

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: T364A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000061242
Gene: ENSMUSG00000030852
AA Change: T364A

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: T2071A

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000081561
Gene: ENSMUSG00000030852
AA Change: T2071A

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: T254A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000207376
Predicted Effect probably benign
Transcript: ENSMUST00000207395
AA Change: T110A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000207549
Predicted Effect probably benign
Transcript: ENSMUST00000207789
Predicted Effect probably benign
Transcript: ENSMUST00000208722
AA Change: T364A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000208743
AA Change: T254A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000209108
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (59/60)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810004N23Rik T C 8: 125,589,653 (GRCm39) D20G possibly damaging Het
5430401F13Rik T C 6: 131,529,630 (GRCm39) S75P probably benign Het
Acad8 A T 9: 26,889,750 (GRCm39) F315I probably damaging Het
Adcy5 A G 16: 35,118,904 (GRCm39) Y1085C probably damaging Het
Aldh1a7 T C 19: 20,693,382 (GRCm39) K179R probably damaging Het
Arhgap10 C T 8: 77,977,583 (GRCm39) G776R probably damaging Het
Arhgap35 A C 7: 16,296,491 (GRCm39) F858C probably damaging Het
Ash1l C T 3: 88,984,381 (GRCm39) R2957W probably damaging Het
Atp6ap1l G T 13: 91,031,848 (GRCm39) A278E probably damaging Het
Btn1a1 A T 13: 23,643,521 (GRCm39) D309E probably damaging Het
Casd1 C T 6: 4,624,211 (GRCm39) R335C probably benign Het
Ceacam3 A G 7: 16,885,487 (GRCm39) Q30R Het
Cfap20 C T 8: 96,148,795 (GRCm39) C119Y probably damaging Het
Cntrl A T 2: 35,055,457 (GRCm39) probably null Het
Crot A G 5: 9,037,878 (GRCm39) V146A probably damaging Het
Cx3cl1 A G 8: 95,506,591 (GRCm39) S199G probably damaging Het
Ddhd1 A T 14: 45,895,263 (GRCm39) L69Q probably damaging Het
Dnah12 T C 14: 26,583,689 (GRCm39) F3195L probably damaging Het
Dpy19l3 A T 7: 35,408,055 (GRCm39) D450E probably benign Het
Ercc3 A T 18: 32,390,325 (GRCm39) N538I probably damaging Het
Fzd1 A T 5: 4,806,145 (GRCm39) V479E probably benign Het
Gart T C 16: 91,425,351 (GRCm39) Y638C possibly damaging Het
Gm2381 C A 7: 42,469,888 (GRCm39) V79L probably benign Het
Gucy1b1 T C 3: 81,950,469 (GRCm39) Y312C probably damaging Het
Hecw1 T A 13: 14,609,045 (GRCm39) M1L probably benign Het
Ip6k2 A G 9: 108,673,930 (GRCm39) I99V unknown Het
Itgb5 C T 16: 33,761,013 (GRCm39) T616I probably benign Het
Kmt2c A C 5: 25,505,360 (GRCm39) V3316G possibly damaging Het
Lama3 C T 18: 12,601,346 (GRCm39) R1008C probably damaging Het
Lin54 T C 5: 100,633,159 (GRCm39) D175G possibly damaging Het
Lrp2 A G 2: 69,318,395 (GRCm39) S2019P probably damaging Het
Lrrc9 A G 12: 72,513,726 (GRCm39) E528G probably benign Het
Lyz3 T C 10: 117,073,647 (GRCm39) N62S probably benign Het
Mto1 A G 9: 78,364,565 (GRCm39) H299R probably damaging Het
Myo19 G A 11: 84,796,439 (GRCm39) G684R probably benign Het
Or14c45 A C 7: 86,176,322 (GRCm39) D119A probably damaging Het
Or7g32 A T 9: 19,408,145 (GRCm39) M34L probably benign Het
Pcdh18 C A 3: 49,709,143 (GRCm39) C724F probably benign Het
Pcdha3 A T 18: 37,080,165 (GRCm39) K302N probably benign Het
Pcdhgb2 T C 18: 37,825,300 (GRCm39) F764L possibly damaging Het
Pik3cb C A 9: 98,975,143 (GRCm39) G246W probably damaging Het
Polr2m A T 9: 71,390,626 (GRCm39) I192N probably damaging Het
Polr2m G T 9: 71,390,815 (GRCm39) T129K probably benign Het
Pramel48 A G 5: 95,630,680 (GRCm39) I186V possibly damaging Het
Ptpn4 C T 1: 119,619,475 (GRCm39) probably null Het
Scgb1b19 A T 7: 32,986,940 (GRCm39) K30N possibly damaging Het
Shpk A G 11: 73,104,315 (GRCm39) T155A probably damaging Het
Slit3 T C 11: 35,461,546 (GRCm39) Y261H probably damaging Het
Sox13 A G 1: 133,313,243 (GRCm39) F438L possibly damaging Het
Sphk1 A T 11: 116,425,907 (GRCm39) E61D probably benign Het
St18 A G 1: 6,873,243 (GRCm39) D326G probably damaging Het
Syde1 G A 10: 78,422,032 (GRCm39) Q566* probably null Het
Tbc1d1 A G 5: 64,330,827 (GRCm39) E2G probably damaging Het
Trim5 A T 7: 103,926,017 (GRCm39) N181K probably damaging Het
Trpc7 A T 13: 56,931,509 (GRCm39) I730K probably benign Het
Uqcrc1 T A 9: 108,776,926 (GRCm39) M377K probably benign Het
Vmn2r4 T C 3: 64,305,898 (GRCm39) N508S probably benign Het
Vmp1 A T 11: 86,477,402 (GRCm39) S333T probably benign Het
Vps50 T A 6: 3,578,854 (GRCm39) M639K possibly damaging Het
Zfp874b A T 13: 67,622,622 (GRCm39) C225* 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
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
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'- TACCACAGATGCATGTGGC -3'
(R):5'- CTCAGAGGCTGTGGTAAGAG -3'

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