Mutagenetix > Incidental Mutation

Incidental Mutation 'R7973:Tubg1'

650728

Institutional Source

Beutler Lab

Gene Symbol

Tubg1

Ensembl Gene

ENSMUSG00000035198

Gene Name

tubulin, gamma 1

Synonyms

1500010O08Rik

MMRRC Submission

046016-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7973 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101010764-101017245 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 101014854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 199 (A199S)

Ref Sequence

ENSEMBL: ENSMUSP00000048036 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017946] [ENSMUST00000043680] [ENSMUST00000107295]

AlphaFold

P83887

Predicted Effect

probably benign
Transcript: ENSMUST00000017946

SMART Domains

Protein: ENSMUSP00000017946
Gene: ENSMUSG00000017802

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
transmembrane domain	79	101	N/A	INTRINSIC
transmembrane domain	186	208	N/A	INTRINSIC
low complexity region	376	397	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000043680
AA Change: A199S

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000048036
Gene: ENSMUSG00000035198
AA Change: A199S

Domain	Start	End	E-Value	Type
Tubulin	48	247	2.05e-57	SMART
Tubulin_C	249	393	5.65e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107295

SMART Domains

Protein: ENSMUSP00000102916
Gene: ENSMUSG00000017802

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
low complexity region	195	216	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (53/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tubulin superfamily. The encoded protein localizes to the centrosome where it binds to microtubules as part of a complex referred to as the gamma-tubulin ring complex. The protein mediates microtubule nucleation and is required for microtubule formation and progression of the cell cycle. A pseudogene of this gene is found on chromosome 7. [provided by RefSeq, Jan 2009]
PHENOTYPE: Homozygous null mice display embryonic lethality and growth arrest at the blastocyst stage. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210016L21Rik	A	G	5: 115,084,112 (GRCm39)	D76G	probably benign	Het
Abcg1	T	C	17: 31,323,132 (GRCm39)	V237A	probably damaging	Het
Adgrv1	A	T	13: 81,588,344 (GRCm39)	V4414E	possibly damaging	Het
Akap11	A	T	14: 78,752,506 (GRCm39)	H122Q		Het
Amotl2	C	T	9: 102,600,968 (GRCm39)	T345I	probably benign	Het
Arhgef4	C	T	1: 34,763,518 (GRCm39)	R925W	possibly damaging	Het
Arid1a	C	T	4: 133,480,381 (GRCm39)	G181D	probably damaging	Het
Ash1l	T	A	3: 88,960,164 (GRCm39)	S2299T	probably benign	Het
Atf7ip	C	T	6: 136,538,062 (GRCm39)	Q432*	probably null	Het
B430306N03Rik	T	A	17: 48,623,483 (GRCm39)	S10T	probably benign	Het
Bckdk	A	G	7: 127,505,539 (GRCm39)	I221V	probably benign	Het
Brinp2	T	C	1: 158,074,057 (GRCm39)	Y688C	probably damaging	Het
Caml	C	T	13: 55,779,784 (GRCm39)	L286F	probably benign	Het
Ccdc125	C	T	13: 100,806,331 (GRCm39)		probably benign	Het
Cdh24	A	T	14: 54,876,477 (GRCm39)	V116E	possibly damaging	Het
Cenpe	T	A	3: 134,929,011 (GRCm39)	I305N	probably damaging	Het
Cep41	C	T	6: 30,680,130 (GRCm39)	G33S	probably damaging	Het
Clec4b2	A	T	6: 123,181,148 (GRCm39)	I178L	probably benign	Het
Dao	AGG	AG	5: 114,153,270 (GRCm39)		probably benign	Het
Dapk1	T	A	13: 60,909,377 (GRCm39)	L1330Q	probably damaging	Het
Evl	C	T	12: 108,647,783 (GRCm39)	R295*	probably null	Het
Fmnl1	G	T	11: 103,061,984 (GRCm39)		probably benign	Het
Galk1	A	G	11: 115,903,435 (GRCm39)	F24L	possibly damaging	Het
Hyal4	T	A	6: 24,755,785 (GRCm39)	M1K	probably null	Het
Ighe	T	C	12: 113,236,677 (GRCm39)	T64A		Het
Iqch	A	G	9: 63,432,228 (GRCm39)	I389T	possibly damaging	Het
Ism2	G	T	12: 87,333,769 (GRCm39)	T92K	possibly damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,321,113 (GRCm39)		probably benign	Het
Kdm1b	T	C	13: 47,230,922 (GRCm39)	S650P	probably benign	Het
Mapkapk5	T	G	5: 121,663,776 (GRCm39)	N426T	possibly damaging	Het
Mroh5	G	T	15: 73,664,614 (GRCm39)	Y90*	probably null	Het
Ncan	T	G	8: 70,550,225 (GRCm39)	I1184L	probably benign	Het
Nectin3	T	C	16: 46,216,484 (GRCm39)	T439A	probably benign	Het
Neo1	G	T	9: 58,897,476 (GRCm39)	A160E	probably damaging	Het
Nosip	T	C	7: 44,726,784 (GRCm39)	S295P	possibly damaging	Het
Nup205	T	A	6: 35,222,274 (GRCm39)	F1979L	probably benign	Het
Nxpe2	A	T	9: 48,231,168 (GRCm39)	D400E	probably damaging	Het
Or4a73	T	A	2: 89,421,331 (GRCm39)	I43F	probably damaging	Het
Pfkfb4	G	A	9: 108,854,179 (GRCm39)	R351Q	probably damaging	Het
Psg29	T	C	7: 16,944,462 (GRCm39)	I324T	probably benign	Het
Ptprh	G	T	7: 4,583,887 (GRCm39)	T235N	possibly damaging	Het
Ralgapa2	T	A	2: 146,230,481 (GRCm39)	N981I	possibly damaging	Het
Ralgps1	T	C	2: 33,036,651 (GRCm39)	Y421C	probably damaging	Het
Sf3b3	T	C	8: 111,542,922 (GRCm39)	E845G	possibly damaging	Het
Sgk1	G	T	10: 21,870,054 (GRCm39)	S31I	probably benign	Het
Sim1	T	G	10: 50,857,419 (GRCm39)	Y390D	probably damaging	Het
Slain2	T	A	5: 73,112,779 (GRCm39)	Y271*	probably null	Het
Slc12a4	G	A	8: 106,678,237 (GRCm39)	R319W	possibly damaging	Het
St6gal1	G	A	16: 23,176,585 (GRCm39)	A393T	probably benign	Het
Stab1	A	T	14: 30,881,590 (GRCm39)		probably null	Het
Supv3l1	A	T	10: 62,285,202 (GRCm39)	L88Q	probably damaging	Het
Syt2	C	A	1: 134,668,570 (GRCm39)		probably null	Het
Tpr	C	T	1: 150,279,638 (GRCm39)	R256C	probably damaging	Het
Usp32	A	G	11: 84,913,634 (GRCm39)	I899T	probably damaging	Het
Usp6nl	G	T	2: 6,413,762 (GRCm39)	R96M	probably damaging	Het
Vmn1r75	A	G	7: 11,614,961 (GRCm39)	D231G	probably benign	Het
Vmn2r42	T	C	7: 8,197,872 (GRCm39)	E249G	probably benign	Het
Zbtb34	C	T	2: 33,301,531 (GRCm39)	G337R	probably benign	Het
Zfp457	T	A	13: 67,441,882 (GRCm39)	H231L	probably benign	Het
Zfp715	C	T	7: 42,949,321 (GRCm39)	G213D	possibly damaging	Het
Zfp760	T	G	17: 21,941,084 (GRCm39)	H86Q	probably benign	Het

Other mutations in Tubg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0599:Tubg1	UTSW	11	101,016,162 (GRCm39)	missense	probably benign	0.32
R4090:Tubg1	UTSW	11	101,015,364 (GRCm39)	missense	possibly damaging	0.92
R4368:Tubg1	UTSW	11	101,016,190 (GRCm39)	splice site	probably null
R5271:Tubg1	UTSW	11	101,011,064 (GRCm39)	missense	probably damaging	1.00
R5590:Tubg1	UTSW	11	101,014,858 (GRCm39)	missense	probably damaging	1.00
R6564:Tubg1	UTSW	11	101,011,715 (GRCm39)	missense	probably damaging	0.98
R7967:Tubg1	UTSW	11	101,014,854 (GRCm39)	missense	probably benign	0.07
R7968:Tubg1	UTSW	11	101,014,854 (GRCm39)	missense	probably benign	0.07
R7971:Tubg1	UTSW	11	101,014,854 (GRCm39)	missense	probably benign	0.07
R8017:Tubg1	UTSW	11	101,014,854 (GRCm39)	missense	probably benign	0.07
R8018:Tubg1	UTSW	11	101,014,854 (GRCm39)	missense	probably benign	0.07
R8019:Tubg1	UTSW	11	101,014,854 (GRCm39)	missense	probably benign	0.07
R8044:Tubg1	UTSW	11	101,014,854 (GRCm39)	missense	probably benign	0.07
R8046:Tubg1	UTSW	11	101,014,854 (GRCm39)	missense	probably benign	0.07
R8055:Tubg1	UTSW	11	101,014,828 (GRCm39)	missense	probably damaging	1.00
R8104:Tubg1	UTSW	11	101,014,854 (GRCm39)	missense	probably benign	0.07
R8678:Tubg1	UTSW	11	101,015,264 (GRCm39)	missense	probably benign
R9104:Tubg1	UTSW	11	101,015,099 (GRCm39)	missense	probably benign	0.07
R9135:Tubg1	UTSW	11	101,014,257 (GRCm39)	missense	probably damaging	0.97
R9274:Tubg1	UTSW	11	101,017,241 (GRCm39)	utr 3 prime	probably benign
R9483:Tubg1	UTSW	11	101,016,886 (GRCm39)	missense	probably damaging	1.00
R9493:Tubg1	UTSW	11	101,017,003 (GRCm39)	missense	probably damaging	0.99
R9494:Tubg1	UTSW	11	101,011,724 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2020-09-15