Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01386:Tubgcp6'

79040

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 #

IGL01386

Quality Score

Status

Chromosome

Chromosomal Location

88983300-89007411 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 88992199 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 595 (Y595*)

Ref Sequence

ENSEMBL: ENSMUSP00000104977 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041656] [ENSMUST00000109353]

AlphaFold

G5E8P0

Predicted Effect

probably null
Transcript: ENSMUST00000041656
AA Change: Y595*

SMART Domains

Protein: ENSMUSP00000040132
Gene: ENSMUSG00000051786
AA Change: Y595*

Domain	Start	End	E-Value	Type
Pfam:Spc97_Spc98	355	1667	3.3e-119	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000109353
AA Change: Y595*

SMART Domains

Protein: ENSMUSP00000104977
Gene: ENSMUSG00000051786
AA Change: Y595*

Domain	Start	End	E-Value	Type
Pfam:Spc97_Spc98	355	1675	2.8e-94	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169069

SMART Domains

Protein: ENSMUSP00000132786
Gene: ENSMUSG00000051786

Domain	Start	End	E-Value	Type
coiled coil region	77	107	N/A	INTRINSIC

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	T	C	12: 80,240,446 (GRCm39)	R214G	probably benign	Het
Cacna1e	T	A	1: 154,348,123 (GRCm39)	K817N	probably benign	Het
Cyp3a16	A	G	5: 145,377,244 (GRCm39)	F448L	probably damaging	Het
Dpp6	T	A	5: 27,869,760 (GRCm39)		probably null	Het
Eif2ak3	C	T	6: 70,869,710 (GRCm39)	T799M	probably damaging	Het
Erbb4	A	T	1: 68,383,090 (GRCm39)	S302R	probably damaging	Het
Fam217a	T	A	13: 35,099,632 (GRCm39)		probably benign	Het
Flt4	C	A	11: 49,528,162 (GRCm39)	A995D	probably benign	Het
Fpr-rs7	G	A	17: 20,334,454 (GRCm39)	S12L	probably damaging	Het
Fsd1	C	T	17: 56,303,733 (GRCm39)	S491F	probably damaging	Het
Hpcal4	T	C	4: 123,083,035 (GRCm39)		probably null	Het
Intu	A	T	3: 40,647,017 (GRCm39)	D630V	probably damaging	Het
Jak3	A	G	8: 72,136,933 (GRCm39)	D703G	probably damaging	Het
Lama4	A	G	10: 38,887,060 (GRCm39)	I122V	probably benign	Het
Mrpl11	A	C	19: 5,013,409 (GRCm39)	K92T	probably null	Het
Mtarc2	A	G	1: 184,551,413 (GRCm39)		probably benign	Het
Mylk	A	G	16: 34,791,610 (GRCm39)		probably null	Het
Or52ab4	A	T	7: 102,987,974 (GRCm39)	K238*	probably null	Het
Parpbp	A	C	10: 87,975,848 (GRCm39)	Y88*	probably null	Het
Plod2	G	A	9: 92,488,655 (GRCm39)	R627Q	probably damaging	Het
Rapsn	G	T	2: 90,867,144 (GRCm39)	A149S	probably damaging	Het
Ripk3	T	G	14: 56,023,484 (GRCm39)	Q109P	probably damaging	Het
Scaf11	T	C	15: 96,318,361 (GRCm39)	D401G	probably damaging	Het
Serpine2	G	A	1: 79,779,268 (GRCm39)	T150I	probably damaging	Het
Sh2d6	T	A	6: 72,495,945 (GRCm39)	T98S	probably benign	Het
Slc28a1	G	T	7: 80,814,427 (GRCm39)	A513S	probably benign	Het
Tanc2	T	C	11: 105,777,207 (GRCm39)	F795S	probably damaging	Het
Tcim	T	A	8: 24,928,705 (GRCm39)	I70F	probably benign	Het
Thbd	G	A	2: 148,249,602 (GRCm39)	Q89*	probably null	Het
Tmem115	C	T	9: 107,411,859 (GRCm39)	T61I	probably damaging	Het
Tsc2	A	T	17: 24,832,259 (GRCm39)	V650E	probably damaging	Het
Uroc1	C	T	6: 90,323,747 (GRCm39)	A398V	probably damaging	Het
Vmn1r31	T	C	6: 58,449,587 (GRCm39)	T93A	probably benign	Het
Vmn2r113	A	G	17: 23,175,024 (GRCm39)	E545G	possibly damaging	Het
Vps13a	A	G	19: 16,678,516 (GRCm39)	V1155A	possibly damaging	Het
Zfp667	A	G	7: 6,307,869 (GRCm39)	H179R	probably benign	Het

Other mutations in Tubgcp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

2013-11-05