Incidental Mutation 'R4472:Tubgcp6'
ID 330434
Institutional Source Beutler Lab
Gene Symbol Tubgcp6
Ensembl Gene ENSMUSG00000051786
Gene Name tubulin, gamma complex component 6
Synonyms
MMRRC Submission 041729-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R4472 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 88983300-89007411 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 88987857 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 1031 (S1031C)
Ref Sequence ENSEMBL: ENSMUSP00000040132 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041656] [ENSMUST00000082439] [ENSMUST00000109353] [ENSMUST00000166480]
AlphaFold G5E8P0
Predicted Effect probably damaging
Transcript: ENSMUST00000041656
AA Change: S1031C

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000040132
Gene: ENSMUSG00000051786
AA Change: S1031C

DomainStartEndE-ValueType
Pfam:Spc97_Spc98 355 1667 3.3e-119 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000082439
SMART Domains Protein: ENSMUSP00000081020
Gene: ENSMUSG00000035757

DomainStartEndE-ValueType
low complexity region 24 38 N/A INTRINSIC
Pfam:UPF0061 79 625 8.3e-131 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000109353
AA Change: S1039C

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104977
Gene: ENSMUSG00000051786
AA Change: S1039C

DomainStartEndE-ValueType
Pfam:Spc97_Spc98 355 1675 2.8e-94 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163290
SMART Domains Protein: ENSMUSP00000131359
Gene: ENSMUSG00000051786

DomainStartEndE-ValueType
Pfam:Spc97_Spc98 91 288 2.9e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164717
Predicted Effect probably benign
Transcript: ENSMUST00000166480
SMART Domains Protein: ENSMUSP00000132108
Gene: ENSMUSG00000051786

DomainStartEndE-ValueType
Pfam:Spc97_Spc98 2 123 5e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168256
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169208
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166994
Predicted Effect probably benign
Transcript: ENSMUST00000170877
Predicted Effect probably benign
Transcript: ENSMUST00000169069
SMART Domains Protein: ENSMUSP00000132786
Gene: ENSMUSG00000051786

DomainStartEndE-ValueType
coiled coil region 77 107 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 97% (66/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of a large multisubunit complex required for microtubule nucleation at the centrosome. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J11Rik A T 9: 39,961,994 (GRCm39) noncoding transcript Het
Accsl T A 2: 93,694,336 (GRCm39) probably null Het
Accsl G T 2: 93,694,337 (GRCm39) probably null Het
Adcy1 G A 11: 7,080,369 (GRCm39) V371M probably damaging Het
Adgrb2 C T 4: 129,902,146 (GRCm39) A509V probably benign Het
Adgrg6 T A 10: 14,312,525 (GRCm39) Q754L probably damaging Het
Agap2 T C 10: 126,927,082 (GRCm39) I1008T probably damaging Het
Aph1c T G 9: 66,735,051 (GRCm39) H150P probably damaging Het
Atcay T C 10: 81,048,361 (GRCm39) R242G possibly damaging Het
Atg2a G A 19: 6,308,985 (GRCm39) V1724M probably damaging Het
Bbs12 T C 3: 37,373,369 (GRCm39) V54A possibly damaging Het
Card14 A G 11: 119,224,784 (GRCm39) M604V possibly damaging Het
Cd28 A T 1: 60,802,393 (GRCm39) H104L probably benign Het
Cntn5 A T 9: 10,048,776 (GRCm39) D262E probably damaging Het
Col6a3 A G 1: 90,749,736 (GRCm39) V366A probably benign Het
Csnk1d G A 11: 120,855,800 (GRCm39) probably benign Het
Dcaf11 T A 14: 55,803,063 (GRCm39) probably benign Het
Dpy19l4 G A 4: 11,304,053 (GRCm39) T119M possibly damaging Het
Eif3f T C 7: 108,540,153 (GRCm39) V316A possibly damaging Het
Fbrsl1 G A 5: 110,526,932 (GRCm39) probably benign Het
Fbxo10 C T 4: 45,043,693 (GRCm39) R710H probably damaging Het
Fbxw9 G A 8: 85,786,829 (GRCm39) D25N probably damaging Het
Gm14295 C T 2: 176,501,386 (GRCm39) T292I possibly damaging Het
Gm4884 C G 7: 40,692,687 (GRCm39) Q219E probably benign Het
Gpr150 A G 13: 76,204,273 (GRCm39) V224A probably benign Het
Hps1 A T 19: 42,750,935 (GRCm39) I355N probably damaging Het
Lmbr1l A G 15: 98,804,178 (GRCm39) S374P probably benign Het
Macf1 A T 4: 123,289,782 (GRCm39) N5458K probably damaging Het
Man1b1 C G 2: 25,222,867 (GRCm39) probably benign Het
Morc3 A G 16: 93,671,645 (GRCm39) probably null Het
Mrgpra4 T C 7: 47,631,539 (GRCm39) T21A probably benign Het
Myo1a G T 10: 127,546,327 (GRCm39) V277L probably benign Het
Nkain4 C G 2: 180,596,415 (GRCm39) M1I probably null Het
Nktr T C 9: 121,577,962 (GRCm39) probably benign Het
Nrxn3 T C 12: 90,171,515 (GRCm39) S276P probably damaging Het
Oas2 A T 5: 120,879,220 (GRCm39) D373E possibly damaging Het
Or8g37 T A 9: 39,731,870 (GRCm39) *312R probably null Het
Oser1 T A 2: 163,257,500 (GRCm39) E11V probably null Het
Oser1 C T 2: 163,257,501 (GRCm39) E11K probably damaging Het
Pacsin3 A G 2: 91,093,288 (GRCm39) probably null Het
Pcdh20 T C 14: 88,706,434 (GRCm39) S289G probably benign Het
Phlpp1 A G 1: 106,314,176 (GRCm39) D1183G probably damaging Het
Pign T C 1: 105,575,945 (GRCm39) K232E probably benign Het
Polk A G 13: 96,630,413 (GRCm39) S383P probably damaging Het
Prom2 C A 2: 127,382,111 (GRCm39) R101L probably benign Het
Rest T C 5: 77,429,027 (GRCm39) V482A probably benign Het
Rexo1 A T 10: 80,378,492 (GRCm39) S476T probably damaging Het
Rnf31 T A 14: 55,840,777 (GRCm39) Y1015N probably damaging Het
Spata3 T C 1: 85,954,152 (GRCm39) Y305H probably benign Het
Sv2a G A 3: 96,099,810 (GRCm39) V587M probably benign Het
Synj1 A G 16: 90,766,069 (GRCm39) probably null Het
Syt17 A G 7: 118,036,040 (GRCm39) probably null Het
Taf2 T C 15: 54,922,276 (GRCm39) D337G possibly damaging Het
Tcaf1 A C 6: 42,656,248 (GRCm39) S243A probably benign Het
Tmem9 A G 1: 135,955,234 (GRCm39) T123A probably benign Het
Trav4-4-dv10 T C 14: 53,921,187 (GRCm39) probably benign Het
Trbv15 G A 6: 41,118,493 (GRCm39) R83Q probably damaging Het
Trim27 A G 13: 21,374,056 (GRCm39) I268V probably benign Het
Vmn1r89 C A 7: 12,953,799 (GRCm39) H110Q probably benign Het
Vmn2r30 T C 7: 7,320,091 (GRCm39) N545S probably damaging Het
Wls G A 3: 159,603,020 (GRCm39) M144I probably benign Het
Yme1l1 T C 2: 23,076,344 (GRCm39) probably null Het
Zeb2 A T 2: 44,913,023 (GRCm39) L56Q probably damaging Het
Other mutations in Tubgcp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00417:Tubgcp6 APN 15 88,988,211 (GRCm39) missense probably benign 0.00
IGL00556:Tubgcp6 APN 15 88,985,165 (GRCm39) missense probably damaging 1.00
IGL00943:Tubgcp6 APN 15 89,006,600 (GRCm39) nonsense probably null
IGL01284:Tubgcp6 APN 15 88,994,258 (GRCm39) missense probably damaging 1.00
IGL01363:Tubgcp6 APN 15 88,991,728 (GRCm39) missense probably damaging 1.00
IGL01386:Tubgcp6 APN 15 88,992,199 (GRCm39) nonsense probably null
IGL01792:Tubgcp6 APN 15 88,985,484 (GRCm39) missense probably damaging 1.00
IGL01866:Tubgcp6 APN 15 88,987,691 (GRCm39) missense probably benign 0.01
IGL02596:Tubgcp6 APN 15 88,985,117 (GRCm39) missense probably damaging 1.00
IGL02858:Tubgcp6 APN 15 88,986,518 (GRCm39) nonsense probably null
IGL02873:Tubgcp6 APN 15 88,988,027 (GRCm39) missense probably benign 0.00
IGL03400:Tubgcp6 APN 15 88,992,302 (GRCm39) unclassified probably benign
IGL02796:Tubgcp6 UTSW 15 89,006,593 (GRCm39) missense probably benign 0.03
R0010:Tubgcp6 UTSW 15 88,987,386 (GRCm39) missense probably benign 0.00
R0308:Tubgcp6 UTSW 15 89,006,639 (GRCm39) missense possibly damaging 0.85
R0440:Tubgcp6 UTSW 15 88,987,268 (GRCm39) missense probably benign 0.12
R0631:Tubgcp6 UTSW 15 88,985,190 (GRCm39) missense probably damaging 1.00
R1653:Tubgcp6 UTSW 15 88,991,645 (GRCm39) missense probably damaging 1.00
R1901:Tubgcp6 UTSW 15 89,000,444 (GRCm39) missense possibly damaging 0.68
R1902:Tubgcp6 UTSW 15 89,000,444 (GRCm39) missense possibly damaging 0.68
R1905:Tubgcp6 UTSW 15 88,984,811 (GRCm39) missense probably damaging 1.00
R2005:Tubgcp6 UTSW 15 88,988,369 (GRCm39) missense probably benign 0.01
R2067:Tubgcp6 UTSW 15 88,988,692 (GRCm39) missense probably benign 0.03
R2083:Tubgcp6 UTSW 15 89,006,579 (GRCm39) missense probably damaging 1.00
R2285:Tubgcp6 UTSW 15 89,006,677 (GRCm39) missense probably damaging 1.00
R2401:Tubgcp6 UTSW 15 88,987,187 (GRCm39) missense probably benign 0.22
R2436:Tubgcp6 UTSW 15 88,986,568 (GRCm39) missense probably benign 0.37
R3017:Tubgcp6 UTSW 15 88,987,285 (GRCm39) nonsense probably null
R3054:Tubgcp6 UTSW 15 89,006,806 (GRCm39) missense probably damaging 1.00
R3932:Tubgcp6 UTSW 15 88,988,617 (GRCm39) unclassified probably benign
R4350:Tubgcp6 UTSW 15 88,988,198 (GRCm39) missense probably benign 0.00
R4864:Tubgcp6 UTSW 15 88,988,021 (GRCm39) missense probably benign
R4937:Tubgcp6 UTSW 15 88,985,752 (GRCm39) missense probably damaging 0.98
R4983:Tubgcp6 UTSW 15 88,990,494 (GRCm39) missense probably damaging 1.00
R4996:Tubgcp6 UTSW 15 88,987,693 (GRCm39) missense possibly damaging 0.89
R5044:Tubgcp6 UTSW 15 88,983,748 (GRCm39) unclassified probably benign
R5122:Tubgcp6 UTSW 15 89,000,306 (GRCm39) missense probably damaging 1.00
R5607:Tubgcp6 UTSW 15 88,995,353 (GRCm39) missense probably benign 0.02
R5608:Tubgcp6 UTSW 15 88,995,353 (GRCm39) missense probably benign 0.02
R5653:Tubgcp6 UTSW 15 88,992,815 (GRCm39) missense possibly damaging 0.47
R5886:Tubgcp6 UTSW 15 88,987,450 (GRCm39) missense possibly damaging 0.82
R5945:Tubgcp6 UTSW 15 88,993,420 (GRCm39) splice site probably null
R6111:Tubgcp6 UTSW 15 88,985,123 (GRCm39) missense possibly damaging 0.83
R6195:Tubgcp6 UTSW 15 89,006,994 (GRCm39) missense probably benign 0.01
R6792:Tubgcp6 UTSW 15 89,007,080 (GRCm39) start gained probably benign
R7074:Tubgcp6 UTSW 15 89,004,839 (GRCm39) missense probably damaging 1.00
R7103:Tubgcp6 UTSW 15 88,985,232 (GRCm39) missense probably damaging 0.96
R7274:Tubgcp6 UTSW 15 88,987,173 (GRCm39) nonsense probably null
R7275:Tubgcp6 UTSW 15 88,987,146 (GRCm39) nonsense probably null
R7514:Tubgcp6 UTSW 15 89,004,728 (GRCm39) missense probably damaging 1.00
R7540:Tubgcp6 UTSW 15 88,986,526 (GRCm39) missense possibly damaging 0.48
R7571:Tubgcp6 UTSW 15 88,984,925 (GRCm39) missense probably damaging 1.00
R7706:Tubgcp6 UTSW 15 88,988,426 (GRCm39) missense probably benign
R7721:Tubgcp6 UTSW 15 88,985,604 (GRCm39) missense probably damaging 1.00
R7980:Tubgcp6 UTSW 15 88,986,232 (GRCm39) missense probably benign 0.03
R7996:Tubgcp6 UTSW 15 88,993,231 (GRCm39) missense possibly damaging 0.92
R8095:Tubgcp6 UTSW 15 89,006,977 (GRCm39) missense probably benign 0.07
R8191:Tubgcp6 UTSW 15 89,004,843 (GRCm39) missense probably damaging 1.00
R8510:Tubgcp6 UTSW 15 88,987,152 (GRCm39) missense possibly damaging 0.91
R8839:Tubgcp6 UTSW 15 88,987,681 (GRCm39) missense possibly damaging 0.91
R8862:Tubgcp6 UTSW 15 89,006,824 (GRCm39) missense probably benign 0.03
R9044:Tubgcp6 UTSW 15 88,987,397 (GRCm39) missense possibly damaging 0.89
R9321:Tubgcp6 UTSW 15 88,992,186 (GRCm39) missense probably damaging 1.00
R9402:Tubgcp6 UTSW 15 88,987,064 (GRCm39) missense probably benign 0.01
R9428:Tubgcp6 UTSW 15 88,985,100 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCATCTGACACATGTCCGTG -3'
(R):5'- GTGACAAACAGCATCTACTGGGG -3'

Sequencing Primer
(F):5'- TGGACATTCCACCGTGGC -3'
(R):5'- ACAGCATCTACTGGGGGATATGTC -3'
Posted On 2015-07-21