Incidental Mutation 'IGL01866:Tubgcp6'
ID 178503
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tubgcp6
Ensembl Gene ENSMUSG00000051786
Gene Name tubulin, gamma complex component 6
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # IGL01866
Quality Score
Status
Chromosome 15
Chromosomal Location 88983300-89007411 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88987691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1094 (V1094A)
Ref Sequence ENSEMBL: ENSMUSP00000104977 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041656] [ENSMUST00000082439] [ENSMUST00000109353] [ENSMUST00000166480]
AlphaFold G5E8P0
Predicted Effect probably benign
Transcript: ENSMUST00000041656
AA Change: V1086A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000040132
Gene: ENSMUSG00000051786
AA Change: V1086A

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 probably benign
Transcript: ENSMUST00000109353
AA Change: V1094A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000104977
Gene: ENSMUSG00000051786
AA Change: V1094A

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: ENSMUST00000169208
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168256
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166994
Predicted Effect probably benign
Transcript: ENSMUST00000169069
SMART Domains Protein: ENSMUSP00000132786
Gene: ENSMUSG00000051786

DomainStartEndE-ValueType
coiled coil region 77 107 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170877
Coding Region Coverage
Validation Efficiency
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm1 T C 4: 144,255,119 (GRCm39) Y180H possibly damaging Het
Abi3bp A T 16: 56,492,336 (GRCm39) I1361L probably benign Het
Amph A T 13: 19,326,172 (GRCm39) D634V probably damaging Het
Ank1 G A 8: 23,583,871 (GRCm39) V317I possibly damaging Het
Ap4e1 G A 2: 126,888,830 (GRCm39) V460I possibly damaging Het
Arhgap19 A T 19: 41,775,016 (GRCm39) H198Q probably benign Het
Cacna1g C T 11: 94,347,937 (GRCm39) G717D probably damaging Het
Camkk2 A G 5: 122,902,013 (GRCm39) S99P probably damaging Het
Catsperb T A 12: 101,475,570 (GRCm39) Y371* probably null Het
Cbl A T 9: 44,065,122 (GRCm39) C735* probably null Het
Ccdc146 C A 5: 21,538,052 (GRCm39) A91S probably damaging Het
Col1a2 G T 6: 4,524,132 (GRCm39) D531Y probably damaging Het
Dscam T A 16: 96,486,550 (GRCm39) T1042S probably benign Het
Dtnb A G 12: 3,782,626 (GRCm39) Y363C probably benign Het
Ear10 A G 14: 44,160,785 (GRCm39) L14P probably damaging Het
Egf A G 3: 129,529,529 (GRCm39) S294P probably benign Het
Erbb3 T C 10: 128,405,237 (GRCm39) *1340W probably null Het
Fam217b A G 2: 178,062,224 (GRCm39) T63A probably benign Het
Fig4 G A 10: 41,108,160 (GRCm39) P680L possibly damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm6882 T A 7: 21,161,512 (GRCm39) I119F probably damaging Het
Hdac10 C A 15: 89,008,736 (GRCm39) G442W probably damaging Het
Mc2r C T 18: 68,540,494 (GRCm39) M266I possibly damaging Het
Mep1b A G 18: 21,228,050 (GRCm39) Q551R probably benign Het
Mtrf1 T A 14: 79,638,948 (GRCm39) C27S probably benign Het
Myo5c T A 9: 75,176,864 (GRCm39) M603K probably benign Het
Nuf2 A G 1: 169,326,407 (GRCm39) L448P possibly damaging Het
Or10a49 C T 7: 108,468,006 (GRCm39) M118I possibly damaging Het
Or1e30 A T 11: 73,678,654 (GRCm39) I297L probably benign Het
Or2b7 T C 13: 21,739,343 (GRCm39) N283S probably benign Het
Or8g33 A T 9: 39,338,025 (GRCm39) M114K probably damaging Het
Ppp2r5c T C 12: 110,534,261 (GRCm39) Y375H probably benign Het
Pstpip2 A G 18: 77,965,325 (GRCm39) I317M probably benign Het
Pxdn A G 12: 30,034,570 (GRCm39) T208A probably benign Het
Rab3gap1 C T 1: 127,818,817 (GRCm39) H116Y probably damaging Het
Rarb T A 14: 16,443,751 (GRCm38) D179V probably benign Het
Rasal1 G A 5: 120,813,488 (GRCm39) A621T probably damaging Het
Rnf6 G A 5: 146,147,717 (GRCm39) R434C probably damaging Het
Scn10a C A 9: 119,464,568 (GRCm39) E1011* probably null Het
Sec24d C T 3: 123,087,244 (GRCm39) Q137* probably null Het
Slc35g1 C A 19: 38,391,642 (GRCm39) A308E probably damaging Het
Smtnl1 C A 2: 84,649,089 (GRCm39) C55F possibly damaging Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Stt3a A T 9: 36,645,662 (GRCm39) D676E probably benign Het
Sytl2 T C 7: 90,031,047 (GRCm39) probably benign Het
Trabd2b A G 4: 114,266,117 (GRCm39) T44A probably damaging Het
Trim12a T C 7: 103,953,360 (GRCm39) probably benign Het
Tti1 A T 2: 157,849,618 (GRCm39) D540E probably benign Het
Vmn1r34 A G 6: 66,614,373 (GRCm39) Y122H probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Zfp579 T A 7: 4,997,257 (GRCm39) Q218L possibly 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
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
R4472:Tubgcp6 UTSW 15 88,987,857 (GRCm39) missense probably damaging 0.98
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
Posted On 2014-05-07