Mutagenetix > Incidental Mutation

Incidental Mutation 'R7571:Tubgcp6'

585873

Institutional Source

Beutler Lab

Gene Symbol

Tubgcp6

Ensembl Gene

ENSMUSG00000051786

Gene Name

tubulin, gamma complex associated protein 6

Synonyms

MMRRC Submission

045711-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R7571 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89098357-89123112 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 89100722 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 1694 (V1694G)

Ref Sequence

ENSEMBL: ENSMUSP00000104977 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041656] [ENSMUST00000082439] [ENSMUST00000109353] [ENSMUST00000130700] [ENSMUST00000166480]

AlphaFold

G5E8P0

Predicted Effect

probably damaging
Transcript: ENSMUST00000041656
AA Change: V1686G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000040132
Gene: ENSMUSG00000051786
AA Change: V1686G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000082439

SMART Domains

Protein: ENSMUSP00000081020
Gene: ENSMUSG00000035757

Domain	Start	End	E-Value	Type
low complexity region	24	38	N/A	INTRINSIC
Pfam:UPF0061	79	625	8.3e-131	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000109353
AA Change: V1694G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104977
Gene: ENSMUSG00000051786
AA Change: V1694G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000130700

SMART Domains

Protein: ENSMUSP00000138382
Gene: ENSMUSG00000035757

Domain	Start	End	E-Value	Type
low complexity region	24	38	N/A	INTRINSIC
Pfam:UPF0061	80	241	1.5e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163290

SMART Domains

Protein: ENSMUSP00000131359
Gene: ENSMUSG00000051786

Domain	Start	End	E-Value	Type
Pfam:Spc97_Spc98	91	288	2.9e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166480

SMART Domains

Protein: ENSMUSP00000132108
Gene: ENSMUSG00000051786

Domain	Start	End	E-Value	Type
Pfam:Spc97_Spc98	2	123	5e-18	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

Predicted Effect

probably benign
Transcript: ENSMUST00000170877

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.4%

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001C02Rik	A	T	5: 30,482,158	E143V	possibly damaging	Het
Abca16	A	T	7: 120,519,988	N985I	probably benign	Het
Abi3bp	T	A	16: 56,630,982		probably null	Het
Acad12	A	T	5: 121,607,194	Y309*	probably null	Het
Acadsb	G	T	7: 131,443,554	R405L	probably damaging	Het
Acan	G	A	7: 79,086,267	V154M	probably damaging	Het
Adam22	G	A	5: 8,082,160	R894*	probably null	Het
Ahnak	A	T	19: 9,000,786	K90*	probably null	Het
Ak4	T	C	4: 101,460,542	I103T	probably benign	Het
Ap4e1	C	T	2: 127,019,336	L132F	probably damaging	Het
Apol7b	C	T	15: 77,423,477	V273I	probably benign	Het
Arhgef37	T	A	18: 61,504,332	I420F	probably damaging	Het
Atg13	C	T	2: 91,680,342		probably null	Het
Bach1	G	A	16: 87,719,291	R240Q	probably benign	Het
Cabin1	A	T	10: 75,646,666	S2148T	probably damaging	Het
Cacna1i	T	C	15: 80,375,336	V1269A	probably damaging	Het
Cdipt	T	C	7: 126,979,622	I195T	probably benign	Het
Ces2b	A	T	8: 104,835,009	H245L	probably damaging	Het
Clstn1	T	G	4: 149,646,287	M825R	probably benign	Het
Cntn3	G	A	6: 102,278,403	T178I	probably damaging	Het
Col7a1	A	G	9: 108,982,707	M2789V	probably null	Het
Col9a2	A	T	4: 121,039,784	I24F	unknown	Het
Cpne2	T	C	8: 94,551,780	M134T	probably benign	Het
Cpt1b	A	G	15: 89,421,343		probably null	Het
Crocc	T	C	4: 141,046,049		probably null	Het
Cts8	T	C	13: 61,248,167	Y330C	probably damaging	Het
Cwc22	T	C	2: 77,917,067	D434G	probably benign	Het
Cyp3a13	T	C	5: 137,898,863	I396M	possibly damaging	Het
D430042O09Rik	C	T	7: 125,708,021		probably benign	Het
D5Ertd577e	A	T	5: 95,482,960	N232I	probably damaging	Het
Ddr2	A	T	1: 170,001,851	I278N	probably benign	Het
Dnaaf5	A	G	5: 139,170,208	E548G	possibly damaging	Het
Dync2h1	A	G	9: 7,002,623	L3808P	probably damaging	Het
Faf2	T	A	13: 54,650,214	W209R	probably damaging	Het
Fam129a	T	C	1: 151,718,297	V911A	probably benign	Het
Fam208b	T	C	13: 3,575,292	T1553A	probably benign	Het
Fbln2	A	T	6: 91,268,575	E992D	probably damaging	Het
Fdxacb1	T	A	9: 50,771,793	V352D	probably damaging	Het
Flg2	G	T	3: 93,219,996	G2072*	probably null	Het
Flii	A	T	11: 60,721,136	L347Q	probably damaging	Het
Fndc3a	A	T	14: 72,589,896	H116Q	probably damaging	Het
Fnta	A	T	8: 26,015,465	M39K	probably benign	Het
Gabra4	A	G	5: 71,571,992	S482P	probably benign	Het
Gapdhs	G	A	7: 30,737,958	P61S	unknown	Het
Gm10153	A	T	7: 142,189,664	C242*	probably null	Het
Gp1ba	A	G	11: 70,640,094	I229V	unknown	Het
Grap2	T	A	15: 80,643,704	L117Q	probably damaging	Het
Grik5	A	G	7: 25,013,885	I766T	possibly damaging	Het
Hrh3	A	T	2: 180,101,286	I183N	probably damaging	Het
Htr5a	C	A	5: 27,842,895	Y149*	probably null	Het
Ibtk	T	C	9: 85,722,300	I527V	probably benign	Het
Il33	T	A	19: 29,956,941	S184R	probably damaging	Het
Kansl3	T	A	1: 36,365,587	Q94L	possibly damaging	Het
Kcnh6	A	G	11: 106,017,416	D286G	probably benign	Het
Kmt2e	T	A	5: 23,478,587	M281K	probably damaging	Het
Lrp2	T	A	2: 69,516,403	H833L	probably damaging	Het
Meis1	A	T	11: 18,941,702	V282E	probably damaging	Het
Mfsd8	T	G	3: 40,830,662	D240A	probably damaging	Het
Muc5b	A	G	7: 141,847,249	T534A	unknown	Het
Myo18b	G	A	5: 112,830,328	L1243F	probably damaging	Het
Nefl	A	G	14: 68,084,674	I238V	probably benign	Het
Nexn	T	A	3: 152,253,647	I62F	possibly damaging	Het
Notch4	T	C	17: 34,583,574	L1323P	probably damaging	Het
Olfr493	A	T	7: 108,346,482	F166L	probably benign	Het
Olfr555	T	C	7: 102,659,051	S77P	probably damaging	Het
Olfr906	T	C	9: 38,488,656	V209A	probably benign	Het
Patj	C	A	4: 98,568,980	H1244N	probably damaging	Het
Peg10	T	A	6: 4,756,082	D219E	unknown	Het
Pi4kb	G	T	3: 94,999,114		probably null	Het
Piezo1	A	G	8: 122,498,418	F614S		Het
Pisd	T	A	5: 32,737,337	N372Y	probably damaging	Het
Piwil4	T	C	9: 14,734,597	D178G	probably benign	Het
Plekho1	G	T	3: 95,989,254	P301Q	probably damaging	Het
Pop1	T	A	15: 34,528,947	W738R	probably null	Het
Ppp4r1	C	T	17: 65,810,616	P125L	possibly damaging	Het
Prdm9	T	A	17: 15,563,264	N13I	probably damaging	Het
Psd4	T	G	2: 24,407,011	V932G	probably damaging	Het
Ptger3	T	C	3: 157,641,775	S355P	probably benign	Het
Ptprb	T	C	10: 116,339,430	V823A	probably damaging	Het
Ptprj	C	T	2: 90,455,186	V841I	probably benign	Het
Ranbp3	T	C	17: 56,707,923	S281P	probably benign	Het
Rasal3	T	A	17: 32,395,861	M541L	possibly damaging	Het
Rassf1	A	G	9: 107,551,783	T63A	possibly damaging	Het
Rcor3	C	A	1: 192,137,876	G8V	probably damaging	Het
Rgs4	G	A	1: 169,744,358	T124I	probably damaging	Het
Rspo2	T	A	15: 43,169,976		probably benign	Het
Scgn	T	C	13: 23,953,914	D258G	probably damaging	Het
Shkbp1	A	G	7: 27,347,131	S403P	possibly damaging	Het
Slc25a13	A	G	6: 6,052,785	L525P	probably damaging	Het
Snd1	G	T	6: 28,526,203	K193N	possibly damaging	Het
Sntg2	C	T	12: 30,175,202	A516T	probably damaging	Het
Stard13	A	G	5: 151,059,502	I699T	probably damaging	Het
Svil	T	A	18: 5,114,636	V1984D	probably damaging	Het
Swt1	A	G	1: 151,394,719	S582P	probably benign	Het
Sypl2	A	G	3: 108,214,538	*265Q	probably null	Het
Taar8a	T	A	10: 24,077,408	Y303*	probably null	Het
Tlr2	T	A	3: 83,836,542	I745F	probably damaging	Het
Tnrc6b	A	G	15: 80,929,393	T1784A	probably benign	Het
Tpo	C	A	12: 30,119,432	M101I	probably benign	Het
Trpm2	G	T	10: 77,937,950	R544S	probably benign	Het
Ttc14	A	G	3: 33,809,251	R603G	unknown	Het
Uba6	C	A	5: 86,147,111	K356N	probably benign	Het
Usp16	T	C	16: 87,464,835	V113A	possibly damaging	Het
Vcam1	G	A	3: 116,114,383	Q677*	probably null	Het
Vmn1r238	T	A	18: 3,122,721	E231V	probably damaging	Het
Vmn1r70	T	C	7: 10,633,944	F120L	probably benign	Het
Vmn2r116	T	A	17: 23,384,856		probably null	Het
Vmn2r5	A	T	3: 64,504,404	C248S	probably damaging	Het
Vmn2r87	A	T	10: 130,479,071	D215E	probably damaging	Het
Xkr4	T	G	1: 3,670,688	I221L	probably benign	Het
Zfp366	T	C	13: 99,246,387	I686T	probably benign	Het
Zfp398	T	A	6: 47,866,732	C573S	probably damaging	Het

Other mutations in Tubgcp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Tubgcp6	APN	15	89104008	missense	probably benign	0.00
IGL00556:Tubgcp6	APN	15	89100962	missense	probably damaging	1.00
IGL00943:Tubgcp6	APN	15	89122397	nonsense	probably null
IGL01284:Tubgcp6	APN	15	89110055	missense	probably damaging	1.00
IGL01363:Tubgcp6	APN	15	89107525	missense	probably damaging	1.00
IGL01386:Tubgcp6	APN	15	89107996	nonsense	probably null
IGL01792:Tubgcp6	APN	15	89101281	missense	probably damaging	1.00
IGL01866:Tubgcp6	APN	15	89103488	missense	probably benign	0.01
IGL02596:Tubgcp6	APN	15	89100914	missense	probably damaging	1.00
IGL02858:Tubgcp6	APN	15	89102315	nonsense	probably null
IGL02873:Tubgcp6	APN	15	89103824	missense	probably benign	0.00
IGL03400:Tubgcp6	APN	15	89108099	unclassified	probably benign
IGL02796:Tubgcp6	UTSW	15	89122390	missense	probably benign	0.03
R0010:Tubgcp6	UTSW	15	89103183	missense	probably benign	0.00
R0308:Tubgcp6	UTSW	15	89122436	missense	possibly damaging	0.85
R0440:Tubgcp6	UTSW	15	89103065	missense	probably benign	0.12
R0631:Tubgcp6	UTSW	15	89100987	missense	probably damaging	1.00
R1653:Tubgcp6	UTSW	15	89107442	missense	probably damaging	1.00
R1901:Tubgcp6	UTSW	15	89116241	missense	possibly damaging	0.68
R1902:Tubgcp6	UTSW	15	89116241	missense	possibly damaging	0.68
R1905:Tubgcp6	UTSW	15	89100608	missense	probably damaging	1.00
R2005:Tubgcp6	UTSW	15	89104166	missense	probably benign	0.01
R2067:Tubgcp6	UTSW	15	89104489	missense	probably benign	0.03
R2083:Tubgcp6	UTSW	15	89122376	missense	probably damaging	1.00
R2285:Tubgcp6	UTSW	15	89122474	missense	probably damaging	1.00
R2401:Tubgcp6	UTSW	15	89102984	missense	probably benign	0.22
R2436:Tubgcp6	UTSW	15	89102365	missense	probably benign	0.37
R3017:Tubgcp6	UTSW	15	89103082	nonsense	probably null
R3054:Tubgcp6	UTSW	15	89122603	missense	probably damaging	1.00
R3932:Tubgcp6	UTSW	15	89104414	unclassified	probably benign
R4350:Tubgcp6	UTSW	15	89103995	missense	probably benign	0.00
R4472:Tubgcp6	UTSW	15	89103654	missense	probably damaging	0.98
R4864:Tubgcp6	UTSW	15	89103818	missense	probably benign
R4937:Tubgcp6	UTSW	15	89101549	missense	probably damaging	0.98
R4983:Tubgcp6	UTSW	15	89106291	missense	probably damaging	1.00
R4996:Tubgcp6	UTSW	15	89103490	missense	possibly damaging	0.89
R5044:Tubgcp6	UTSW	15	89099545	unclassified	probably benign
R5122:Tubgcp6	UTSW	15	89116103	missense	probably damaging	1.00
R5607:Tubgcp6	UTSW	15	89111150	missense	probably benign	0.02
R5608:Tubgcp6	UTSW	15	89111150	missense	probably benign	0.02
R5653:Tubgcp6	UTSW	15	89108612	missense	possibly damaging	0.47
R5886:Tubgcp6	UTSW	15	89103247	missense	possibly damaging	0.82
R5945:Tubgcp6	UTSW	15	89109217	splice site	probably null
R6111:Tubgcp6	UTSW	15	89100920	missense	possibly damaging	0.83
R6195:Tubgcp6	UTSW	15	89122791	missense	probably benign	0.01
R6792:Tubgcp6	UTSW	15	89122877	start gained	probably benign
R7074:Tubgcp6	UTSW	15	89120636	missense	probably damaging	1.00
R7103:Tubgcp6	UTSW	15	89101029	missense	probably damaging	0.96
R7274:Tubgcp6	UTSW	15	89102970	nonsense	probably null
R7275:Tubgcp6	UTSW	15	89102943	nonsense	probably null
R7514:Tubgcp6	UTSW	15	89120525	missense	probably damaging	1.00
R7540:Tubgcp6	UTSW	15	89102323	missense	possibly damaging	0.48
R7706:Tubgcp6	UTSW	15	89104223	missense	probably benign
R7721:Tubgcp6	UTSW	15	89101401	missense	probably damaging	1.00
R7980:Tubgcp6	UTSW	15	89102029	missense	probably benign	0.03
R7996:Tubgcp6	UTSW	15	89109028	missense	possibly damaging	0.92
R8095:Tubgcp6	UTSW	15	89122774	missense	probably benign	0.07
R8191:Tubgcp6	UTSW	15	89120640	missense	probably damaging	1.00
R8510:Tubgcp6	UTSW	15	89102949	missense	possibly damaging	0.91
R8839:Tubgcp6	UTSW	15	89103478	missense	possibly damaging	0.91
R8862:Tubgcp6	UTSW	15	89122621	missense	probably benign	0.03
R9044:Tubgcp6	UTSW	15	89103194	missense	possibly damaging	0.89
R9321:Tubgcp6	UTSW	15	89107983	missense	probably damaging	1.00
R9402:Tubgcp6	UTSW	15	89102861	missense	probably benign	0.01
R9428:Tubgcp6	UTSW	15	89100897	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCATCCAACTTTCAGGCTCCTG -3'
(R):5'- GTGACCTGGAGGAGATTCAG -3'

Sequencing Primer
(F):5'- GCTCCTGCCCACCCTGG -3'
(R):5'- AGATTCAGCGGGCCCATG -3'

Posted On

2019-10-17