Mutagenetix > Incidental Mutation

Incidental Mutation 'R5945:Tubgcp6'

460578

Institutional Source

Beutler Lab

Gene Symbol

Tubgcp6

Ensembl Gene

ENSMUSG00000051786

Gene Name

tubulin, gamma complex component 6

Synonyms

MMRRC Submission

044137-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R5945 (G1)

Quality Score

199

Status

Validated

Chromosome

Chromosomal Location

88983300-89007411 bp(-) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

T to C at 88993420 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104977 (fasta)

Gene Model

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

AlphaFold

G5E8P0

Predicted Effect

probably null
Transcript: ENSMUST00000041656

SMART Domains

Protein: ENSMUSP00000040132
Gene: ENSMUSG00000051786

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

Predicted Effect

probably null
Transcript: ENSMUST00000109353

SMART Domains

Protein: ENSMUSP00000104977
Gene: ENSMUSG00000051786

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

100% (101/101)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930488N24Rik	T	C	17: 14,326,601 (GRCm39)		noncoding transcript	Het
Abca13	C	T	11: 9,243,398 (GRCm39)	H1754Y	probably benign	Het
Abi1	T	C	2: 22,929,977 (GRCm39)	E34G	probably damaging	Het
Apobec3	C	T	15: 79,782,047 (GRCm39)	T19I	probably damaging	Het
Arel1	C	A	12: 84,973,121 (GRCm39)	V559L	probably benign	Het
Arhgef10	T	C	8: 15,030,028 (GRCm39)		probably null	Het
Asb6	T	C	2: 30,718,215 (GRCm39)		probably benign	Het
Asxl2	T	C	12: 3,550,439 (GRCm39)	V727A	possibly damaging	Het
Atp13a5	C	A	16: 29,055,995 (GRCm39)	R1100L	probably benign	Het
Atp6v1a	A	G	16: 43,920,309 (GRCm39)	V429A	probably damaging	Het
Caml	A	G	13: 55,776,445 (GRCm39)	Y228C	probably damaging	Het
Ccdc14	A	G	16: 34,543,958 (GRCm39)	E772G	probably damaging	Het
Ccdc96	A	G	5: 36,643,194 (GRCm39)	E400G	probably damaging	Het
Ces1h	T	A	8: 94,090,254 (GRCm39)	E266V	probably benign	Het
Chd5	G	T	4: 152,464,408 (GRCm39)	Q1522H	probably benign	Het
CN725425	T	A	15: 91,129,980 (GRCm39)	I281N	possibly damaging	Het
Cngb3	A	T	4: 19,283,579 (GRCm39)	E62V	probably null	Het
Cops5	T	A	1: 10,108,235 (GRCm39)		probably benign	Het
Crhr2	T	A	6: 55,077,667 (GRCm39)	I232F	possibly damaging	Het
Cxcl3	C	T	5: 90,934,175 (GRCm39)		probably benign	Het
Ddx31	T	A	2: 28,749,902 (GRCm39)	I308N	probably damaging	Het
Efcab14	T	A	4: 115,613,664 (GRCm39)	V204D	probably damaging	Het
Emsy	T	C	7: 98,268,590 (GRCm39)	T484A	probably damaging	Het
Ep400	A	T	5: 110,830,732 (GRCm39)	I2257N	unknown	Het
Epb41l4a	T	A	18: 33,961,783 (GRCm39)	Q420L	possibly damaging	Het
Fat4	A	G	3: 39,037,355 (GRCm39)	D3669G	probably benign	Het
Fmnl2	C	A	2: 53,004,211 (GRCm39)	T607K	probably damaging	Het
Glod4	T	C	11: 76,125,297 (GRCm39)	Y135C	probably damaging	Het
Gm10912	A	G	2: 103,896,961 (GRCm39)	I33M	possibly damaging	Het
Gm5592	T	C	7: 40,865,036 (GRCm39)		probably benign	Het
Gria4	A	G	9: 4,456,122 (GRCm39)	L726P	probably damaging	Het
H2-M10.4	T	C	17: 36,771,518 (GRCm39)	E220G	probably benign	Het
Itga1	T	G	13: 115,103,126 (GRCm39)	N1102H	probably benign	Het
Itpk1	A	G	12: 102,554,812 (GRCm39)	I6T	probably damaging	Het
Kcnh4	T	C	11: 100,636,148 (GRCm39)	D833G	probably damaging	Het
Kdm1a	T	C	4: 136,296,012 (GRCm39)		probably null	Het
Kif24	G	A	4: 41,428,670 (GRCm39)	Q97*	probably null	Het
Klhl2	T	C	8: 65,202,762 (GRCm39)	I479V	probably benign	Het
Large1	T	C	8: 73,578,828 (GRCm39)	Y459C	probably damaging	Het
Lcn8	T	G	2: 25,545,509 (GRCm39)	L169R	probably damaging	Het
Loxl3	T	G	6: 83,014,492 (GRCm39)	S133R	probably damaging	Het
Lyzl4	A	G	9: 121,413,529 (GRCm39)	Y4H	unknown	Het
Marchf7	A	G	2: 60,071,331 (GRCm39)	K612E	probably damaging	Het
Mreg	C	T	1: 72,231,359 (GRCm39)	G33D	probably benign	Het
Ms4a6c	A	C	19: 11,457,863 (GRCm39)		probably benign	Het
Nrbf2	G	A	10: 67,103,299 (GRCm39)	S268F	possibly damaging	Het
Oog4	T	A	4: 143,164,293 (GRCm39)	I341F	probably benign	Het
Or4k5	A	G	14: 50,386,220 (GRCm39)	V37A	probably benign	Het
Or5h26	A	G	16: 58,988,482 (GRCm39)	L8P	probably benign	Het
Or5h27	C	T	16: 59,006,091 (GRCm39)	V252I	unknown	Het
Or5l14	A	T	2: 87,792,946 (GRCm39)	C97S	probably damaging	Het
Pcdhb5	G	A	18: 37,454,523 (GRCm39)	R301Q	probably benign	Het
Podn	T	C	4: 107,878,910 (GRCm39)	K174R	possibly damaging	Het
Pphln1	T	C	15: 93,353,413 (GRCm39)		probably null	Het
Ppp2r1a	C	G	17: 21,179,675 (GRCm39)	H112D	possibly damaging	Het
Prmt5	A	G	14: 54,752,344 (GRCm39)	F151L	possibly damaging	Het
Ptch1	A	T	13: 63,721,233 (GRCm39)		probably benign	Het
Rgl2	A	G	17: 34,151,012 (GRCm39)		probably null	Het
Ryr2	A	T	13: 11,675,008 (GRCm39)	I3373N	probably damaging	Het
Scap	A	G	9: 110,213,664 (GRCm39)	N1209S	probably benign	Het
Sin3b	T	C	8: 73,457,793 (GRCm39)	S170P	probably damaging	Het
Slc22a4	A	T	11: 53,886,854 (GRCm39)	I296N	probably damaging	Het
Slco1a8	T	A	6: 141,940,008 (GRCm39)	N145I	probably damaging	Het
Slco2a1	T	C	9: 102,923,989 (GRCm39)	S68P	probably damaging	Het
Snx8	A	G	5: 140,339,235 (GRCm39)	C161R	probably benign	Het
Spryd3	C	T	15: 102,026,630 (GRCm39)	C347Y	probably benign	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Strn3	T	C	12: 51,676,279 (GRCm39)	T333A	probably benign	Het
Swt1	T	A	1: 151,286,921 (GRCm39)	E190D	probably benign	Het
Tchh	A	T	3: 93,352,644 (GRCm39)	I695F	unknown	Het
Tfap4	G	A	16: 4,363,493 (GRCm39)	S314L	possibly damaging	Het
Tigd3	G	T	19: 5,941,894 (GRCm39)	T412K	probably benign	Het
Tmem184b	T	A	15: 79,249,681 (GRCm39)		probably null	Het
Trpa1	T	C	1: 14,968,359 (GRCm39)	D469G	probably benign	Het
Tssk1	T	C	16: 17,712,565 (GRCm39)	F117L	probably damaging	Het
Tuba3b	T	A	6: 145,565,471 (GRCm39)	M313K	probably damaging	Het
Vav1	A	G	17: 57,608,870 (GRCm39)	K345E	possibly damaging	Het
Zdhhc4	G	A	5: 143,310,641 (GRCm39)	R64C	probably damaging	Het
Zfp280d	T	A	9: 72,269,614 (GRCm39)	L892*	probably null	Het
Zfp46	T	A	4: 136,014,528 (GRCm39)	M3K	probably damaging	Het
Zfp607b	C	A	7: 27,401,841 (GRCm39)	P99Q	probably benign	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zfp990	T	A	4: 145,264,613 (GRCm39)	I537N	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
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
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'- CAGCAAAACGGGATAGTGCTC -3'
(R):5'- GGGAAAATGAACGTTTAGCTTGC -3'

Sequencing Primer
(F):5'- AACGGGATAGTGCTCATTACTGC -3'
(R):5'- ATGAACGTTTAGCTTGCTCAGTC -3'

Posted On

2017-02-28