Mutagenetix > Incidental Mutation

Incidental Mutation 'R2285:Tubgcp6'

243288

Institutional Source

Beutler Lab

Gene Symbol

Tubgcp6

Ensembl Gene

ENSMUSG00000051786

Gene Name

tubulin, gamma complex associated protein 6

Synonyms

MMRRC Submission

040284-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R2285 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89098357-89123112 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89122474 bp (GRCm38)

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: 104,939,171	Y532H	probably damaging	Het
Bbs9	T	G	9: 22,678,934	L656W	probably damaging	Het
Clu	T	C	14: 65,980,959	S423P	probably benign	Het
Cnpy4	A	G	5: 138,192,825		probably null	Het
Col28a1	A	T	6: 8,097,078	V440E	probably damaging	Het
Colgalt2	A	G	1: 152,468,550	N121S	probably benign	Het
Cpa5	G	T	6: 30,615,064	V67L	probably benign	Het
Emilin1	G	A	5: 30,918,200	R595H	probably damaging	Het
Fam92b	T	C	8: 120,168,537	N209D	probably benign	Het
Fat3	G	T	9: 16,376,173	Q685K	probably damaging	Het
Gfra4	C	T	2: 131,041,731	R34H	probably damaging	Het
Gp2	C	T	7: 119,450,085	V410M	possibly damaging	Het
Ints9	T	C	14: 65,007,997	F235L	possibly damaging	Het
Kcnh3	A	T	15: 99,241,992	I920F	probably benign	Het
Mipep	T	C	14: 60,787,394	S95P	possibly damaging	Het
Naip6	C	T	13: 100,300,600	A472T	probably benign	Het
Nxpe3	C	T	16: 55,866,225	G140D	probably damaging	Het
Olfr792	A	G	10: 129,540,668	I44V	probably benign	Het
Ppcs	T	A	4: 119,418,977	K137I	possibly damaging	Het
Tmc1	A	G	19: 20,789,799	M731T	probably damaging	Het
Usp54	G	A	14: 20,561,178	T1190I	possibly damaging	Het
Zfp51	T	A	17: 21,463,875	F251I	probably damaging	Het

Other mutations in Tubgcp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Tubgcp6	APN	15	89,104,008 (GRCm38)	missense	probably benign	0.00
IGL00556:Tubgcp6	APN	15	89,100,962 (GRCm38)	missense	probably damaging	1.00
IGL00943:Tubgcp6	APN	15	89,122,397 (GRCm38)	nonsense	probably null
IGL01284:Tubgcp6	APN	15	89,110,055 (GRCm38)	missense	probably damaging	1.00
IGL01363:Tubgcp6	APN	15	89,107,525 (GRCm38)	missense	probably damaging	1.00
IGL01386:Tubgcp6	APN	15	89,107,996 (GRCm38)	nonsense	probably null
IGL01792:Tubgcp6	APN	15	89,101,281 (GRCm38)	missense	probably damaging	1.00
IGL01866:Tubgcp6	APN	15	89,103,488 (GRCm38)	missense	probably benign	0.01
IGL02596:Tubgcp6	APN	15	89,100,914 (GRCm38)	missense	probably damaging	1.00
IGL02858:Tubgcp6	APN	15	89,102,315 (GRCm38)	nonsense	probably null
IGL02873:Tubgcp6	APN	15	89,103,824 (GRCm38)	missense	probably benign	0.00
IGL03400:Tubgcp6	APN	15	89,108,099 (GRCm38)	unclassified	probably benign
IGL02796:Tubgcp6	UTSW	15	89,122,390 (GRCm38)	missense	probably benign	0.03
R0010:Tubgcp6	UTSW	15	89,103,183 (GRCm38)	missense	probably benign	0.00
R0308:Tubgcp6	UTSW	15	89,122,436 (GRCm38)	missense	possibly damaging	0.85
R0440:Tubgcp6	UTSW	15	89,103,065 (GRCm38)	missense	probably benign	0.12
R0631:Tubgcp6	UTSW	15	89,100,987 (GRCm38)	missense	probably damaging	1.00
R1653:Tubgcp6	UTSW	15	89,107,442 (GRCm38)	missense	probably damaging	1.00
R1901:Tubgcp6	UTSW	15	89,116,241 (GRCm38)	missense	possibly damaging	0.68
R1902:Tubgcp6	UTSW	15	89,116,241 (GRCm38)	missense	possibly damaging	0.68
R1905:Tubgcp6	UTSW	15	89,100,608 (GRCm38)	missense	probably damaging	1.00
R2005:Tubgcp6	UTSW	15	89,104,166 (GRCm38)	missense	probably benign	0.01
R2067:Tubgcp6	UTSW	15	89,104,489 (GRCm38)	missense	probably benign	0.03
R2083:Tubgcp6	UTSW	15	89,122,376 (GRCm38)	missense	probably damaging	1.00
R2401:Tubgcp6	UTSW	15	89,102,984 (GRCm38)	missense	probably benign	0.22
R2436:Tubgcp6	UTSW	15	89,102,365 (GRCm38)	missense	probably benign	0.37
R3017:Tubgcp6	UTSW	15	89,103,082 (GRCm38)	nonsense	probably null
R3054:Tubgcp6	UTSW	15	89,122,603 (GRCm38)	missense	probably damaging	1.00
R3932:Tubgcp6	UTSW	15	89,104,414 (GRCm38)	unclassified	probably benign
R4350:Tubgcp6	UTSW	15	89,103,995 (GRCm38)	missense	probably benign	0.00
R4472:Tubgcp6	UTSW	15	89,103,654 (GRCm38)	missense	probably damaging	0.98
R4864:Tubgcp6	UTSW	15	89,103,818 (GRCm38)	missense	probably benign
R4937:Tubgcp6	UTSW	15	89,101,549 (GRCm38)	missense	probably damaging	0.98
R4983:Tubgcp6	UTSW	15	89,106,291 (GRCm38)	missense	probably damaging	1.00
R4996:Tubgcp6	UTSW	15	89,103,490 (GRCm38)	missense	possibly damaging	0.89
R5044:Tubgcp6	UTSW	15	89,099,545 (GRCm38)	unclassified	probably benign
R5122:Tubgcp6	UTSW	15	89,116,103 (GRCm38)	missense	probably damaging	1.00
R5607:Tubgcp6	UTSW	15	89,111,150 (GRCm38)	missense	probably benign	0.02
R5608:Tubgcp6	UTSW	15	89,111,150 (GRCm38)	missense	probably benign	0.02
R5653:Tubgcp6	UTSW	15	89,108,612 (GRCm38)	missense	possibly damaging	0.47
R5886:Tubgcp6	UTSW	15	89,103,247 (GRCm38)	missense	possibly damaging	0.82
R5945:Tubgcp6	UTSW	15	89,109,217 (GRCm38)	splice site	probably null
R6111:Tubgcp6	UTSW	15	89,100,920 (GRCm38)	missense	possibly damaging	0.83
R6195:Tubgcp6	UTSW	15	89,122,791 (GRCm38)	missense	probably benign	0.01
R6792:Tubgcp6	UTSW	15	89,122,877 (GRCm38)	start gained	probably benign
R7074:Tubgcp6	UTSW	15	89,120,636 (GRCm38)	missense	probably damaging	1.00
R7103:Tubgcp6	UTSW	15	89,101,029 (GRCm38)	missense	probably damaging	0.96
R7274:Tubgcp6	UTSW	15	89,102,970 (GRCm38)	nonsense	probably null
R7275:Tubgcp6	UTSW	15	89,102,943 (GRCm38)	nonsense	probably null
R7514:Tubgcp6	UTSW	15	89,120,525 (GRCm38)	missense	probably damaging	1.00
R7540:Tubgcp6	UTSW	15	89,102,323 (GRCm38)	missense	possibly damaging	0.48
R7571:Tubgcp6	UTSW	15	89,100,722 (GRCm38)	missense	probably damaging	1.00
R7706:Tubgcp6	UTSW	15	89,104,223 (GRCm38)	missense	probably benign
R7721:Tubgcp6	UTSW	15	89,101,401 (GRCm38)	missense	probably damaging	1.00
R7980:Tubgcp6	UTSW	15	89,102,029 (GRCm38)	missense	probably benign	0.03
R7996:Tubgcp6	UTSW	15	89,109,028 (GRCm38)	missense	possibly damaging	0.92
R8095:Tubgcp6	UTSW	15	89,122,774 (GRCm38)	missense	probably benign	0.07
R8191:Tubgcp6	UTSW	15	89,120,640 (GRCm38)	missense	probably damaging	1.00
R8510:Tubgcp6	UTSW	15	89,102,949 (GRCm38)	missense	possibly damaging	0.91
R8839:Tubgcp6	UTSW	15	89,103,478 (GRCm38)	missense	possibly damaging	0.91
R8862:Tubgcp6	UTSW	15	89,122,621 (GRCm38)	missense	probably benign	0.03
R9044:Tubgcp6	UTSW	15	89,103,194 (GRCm38)	missense	possibly damaging	0.89
R9321:Tubgcp6	UTSW	15	89,107,983 (GRCm38)	missense	probably damaging	1.00
R9402:Tubgcp6	UTSW	15	89,102,861 (GRCm38)	missense	probably benign	0.01
R9428:Tubgcp6	UTSW	15	89,100,897 (GRCm38)	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