Mutagenetix > Incidental Mutation

Incidental Mutation 'R2285:Tubgcp6'

243288

Institutional Source

Beutler Lab

Gene Symbol

Tubgcp6

Ensembl Gene

ENSMUSG00000051786

Gene Name

tubulin, gamma complex component 6

Synonyms

MMRRC Submission

040284-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R2285 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88983300-89007411 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89006677 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 115 (V115D)

Ref Sequence

ENSEMBL: ENSMUSP00000104977 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041656] [ENSMUST00000082197] [ENSMUST00000109347] [ENSMUST00000109353]

AlphaFold

G5E8P0

Predicted Effect

probably damaging
Transcript: ENSMUST00000041656
AA Change: V115D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000040132
Gene: ENSMUSG00000051786
AA Change: V115D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000082197

SMART Domains

Protein: ENSMUSP00000080832
Gene: ENSMUSG00000062906

Domain	Start	End	E-Value	Type
Pfam:Hist_deacetyl	13	322	2.1e-85	PFAM
low complexity region	478	489	N/A	INTRINSIC
low complexity region	583	595	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109347

SMART Domains

Protein: ENSMUSP00000104971
Gene: ENSMUSG00000062906

Domain	Start	End	E-Value	Type
Pfam:Hist_deacetyl	13	251	6.1e-66	PFAM
low complexity region	270	282	N/A	INTRINSIC
low complexity region	398	409	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109353
AA Change: V115D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104977
Gene: ENSMUSG00000051786
AA Change: V115D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128908

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129398

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134111

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138245

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143465

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153195

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231098

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.2%
20x: 95.0%

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	G	5: 105,087,037 (GRCm39)	Y532H	probably damaging	Het
Bbs9	T	G	9: 22,590,230 (GRCm39)	L656W	probably damaging	Het
Cibar2	T	C	8: 120,895,276 (GRCm39)	N209D	probably benign	Het
Clu	T	C	14: 66,218,408 (GRCm39)	S423P	probably benign	Het
Cnpy4	A	G	5: 138,191,087 (GRCm39)		probably null	Het
Col28a1	A	T	6: 8,097,078 (GRCm39)	V440E	probably damaging	Het
Colgalt2	A	G	1: 152,344,301 (GRCm39)	N121S	probably benign	Het
Cpa5	G	T	6: 30,615,063 (GRCm39)	V67L	probably benign	Het
Emilin1	G	A	5: 31,075,544 (GRCm39)	R595H	probably damaging	Het
Fat3	G	T	9: 16,287,469 (GRCm39)	Q685K	probably damaging	Het
Gfra4	C	T	2: 130,883,651 (GRCm39)	R34H	probably damaging	Het
Gp2	C	T	7: 119,049,308 (GRCm39)	V410M	possibly damaging	Het
Ints9	T	C	14: 65,245,446 (GRCm39)	F235L	possibly damaging	Het
Kcnh3	A	T	15: 99,139,873 (GRCm39)	I920F	probably benign	Het
Mipep	T	C	14: 61,024,843 (GRCm39)	S95P	possibly damaging	Het
Naip6	C	T	13: 100,437,108 (GRCm39)	A472T	probably benign	Het
Nxpe3	C	T	16: 55,686,588 (GRCm39)	G140D	probably damaging	Het
Or6c66b	A	G	10: 129,376,537 (GRCm39)	I44V	probably benign	Het
Ppcs	T	A	4: 119,276,174 (GRCm39)	K137I	possibly damaging	Het
Tmc1	A	G	19: 20,767,163 (GRCm39)	M731T	probably damaging	Het
Usp54	G	A	14: 20,611,246 (GRCm39)	T1190I	possibly damaging	Het
Zfp51	T	A	17: 21,684,137 (GRCm39)	F251I	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- GTGATGACACAAATTCTCCTCC -3'
(R):5'- GGCCTACAATGCCCTTTTCG -3'

Sequencing Primer
(F):5'- ATTCTCCTCCCCAGAGATAAATG -3'
(R):5'- TCGCAAATCTTTTTCAAGAGGACACC -3'

Posted On

2014-10-16