Mutagenetix > Incidental Mutation

Incidental Mutation 'R8018:Tubg1'

617226

Institutional Source

Beutler Lab

Gene Symbol

Tubg1

Ensembl Gene

ENSMUSG00000035198

Gene Name

tubulin, gamma 1

Synonyms

1500010O08Rik

MMRRC Submission

067458-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8018 (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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (45/46)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	G	A	9: 55,880,991 (GRCm39)	T146I	unknown	Het
Abca16	A	G	7: 120,132,866 (GRCm39)	E1265G	probably benign	Het
Adar	T	C	3: 89,654,882 (GRCm39)	S924P	probably damaging	Het
Adgrv1	A	T	13: 81,588,344 (GRCm39)	V4414E	possibly damaging	Het
AI429214	A	T	8: 37,460,820 (GRCm39)		probably benign	Het
Ankmy1	A	T	1: 92,814,003 (GRCm39)	L392Q	probably benign	Het
Anxa3	A	T	5: 96,968,288 (GRCm39)	I114F	probably damaging	Het
Ccdc158	T	C	5: 92,771,260 (GRCm39)	D985G	possibly damaging	Het
Cndp2	C	T	18: 84,686,727 (GRCm39)	V432I	probably benign	Het
Ctbp2	T	C	7: 132,616,095 (GRCm39)	K280R	probably benign	Het
Dao	AGG	AG	5: 114,153,270 (GRCm39)		probably benign	Het
Dnaaf4	T	A	9: 72,879,598 (GRCm39)		probably benign	Het
Dynap	T	C	18: 70,375,093 (GRCm39)	T41A	possibly damaging	Het
Elfn2	A	G	15: 78,557,968 (GRCm39)	L193P	probably damaging	Het
Fcrl2	A	T	3: 87,166,933 (GRCm39)	L20*	probably null	Het
Flcn	T	C	11: 59,684,948 (GRCm39)	D501G	probably damaging	Het
Gmip	A	G	8: 70,268,143 (GRCm39)	E399G	probably benign	Het
Grm7	A	G	6: 111,184,737 (GRCm39)	E356G	probably benign	Het
Hs3st2	A	G	7: 121,099,639 (GRCm39)		probably null	Het
Kcnh2	G	A	5: 24,525,014 (GRCm39)	S1158L	probably damaging	Het
Lancl2	A	G	6: 57,690,078 (GRCm39)	T104A	probably damaging	Het
Ldlrad4	G	T	18: 68,368,740 (GRCm39)	A66S	possibly damaging	Het
Mthfd2l	T	A	5: 91,107,672 (GRCm39)	I178N	probably damaging	Het
Nbeal2	G	T	9: 110,458,225 (GRCm39)		probably benign	Het
Niban1	A	T	1: 151,593,006 (GRCm39)	K564*	probably null	Het
Nipal3	C	T	4: 135,174,659 (GRCm39)	R364H	possibly damaging	Het
Or2b4	A	G	17: 38,116,038 (GRCm39)	M1V	probably null	Het
Oxa1l	A	G	14: 54,600,757 (GRCm39)	I77V	not run	Het
Phf10	T	A	17: 15,174,378 (GRCm39)	Q233H	possibly damaging	Het
Pias2	T	A	18: 77,216,654 (GRCm39)	N288K	probably benign	Het
Pramel43	T	C	5: 94,761,839 (GRCm39)	N244S	probably benign	Het
Prm3	CTCTTCTTCTTCTTC	CTCTTCTTCTTC	16: 10,608,565 (GRCm39)		probably benign	Het
Ptprd	T	C	4: 76,003,757 (GRCm39)	T1010A	probably damaging	Het
Ralgapa2	T	C	2: 146,182,311 (GRCm39)	D1676G	probably damaging	Het
Rapgefl1	T	G	11: 98,731,166 (GRCm39)		probably null	Het
Rrp7a	C	T	15: 83,001,125 (GRCm39)	E269K	possibly damaging	Het
Ryr3	A	C	2: 112,508,777 (GRCm39)	M3399R	probably damaging	Het
Secisbp2l	C	A	2: 125,587,829 (GRCm39)	R762L	probably damaging	Het
Smad7	T	G	18: 75,502,355 (GRCm39)	L110R	possibly damaging	Het
St6gal1	G	A	16: 23,176,585 (GRCm39)	A393T	probably benign	Het
Tcea3	T	G	4: 135,985,229 (GRCm39)		probably benign	Het
Tdrd9	T	C	12: 111,999,180 (GRCm39)	V765A	probably benign	Het
Tdrd9	C	T	12: 112,010,822 (GRCm39)	R1130W	probably damaging	Het
Tia1	C	T	6: 86,402,034 (GRCm39)	P189S	probably benign	Het
Ubxn8	A	G	8: 34,113,243 (GRCm39)	C204R	probably damaging	Het
Vmn1r76	A	G	7: 11,664,810 (GRCm39)	S135P	probably damaging	Het
Vps18	T	A	2: 119,124,492 (GRCm39)	L473H	probably damaging	Het
Zfp444	A	G	7: 6,191,142 (GRCm39)	T108A	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
R7973: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
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

2020-01-23