Mutagenetix > Incidental Mutation

Incidental Mutation 'R9494:Tubg1'

717115

Institutional Source

Beutler Lab

Gene Symbol

Tubg1

Ensembl Gene

ENSMUSG00000035198

Gene Name

tubulin, gamma 1

Synonyms

1500010O08Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9494 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101010764-101017245 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101011724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 77 (I77T)

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 damaging
Transcript: ENSMUST00000043680
AA Change: I77T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000048036
Gene: ENSMUSG00000035198
AA Change: I77T

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: 99.6%
20x: 98.9%

Validation Efficiency

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2	T	C	1: 59,206,664 (GRCm39)	D1593G	probably damaging	Het
Atad2b	C	A	12: 5,081,852 (GRCm39)	P1254T	probably benign	Het
Brsk2	C	T	7: 141,555,955 (GRCm39)	R716C	possibly damaging	Het
Bzw2	T	A	12: 36,184,947 (GRCm39)	M1L	probably benign	Het
Cd300ld2	T	A	11: 114,901,249 (GRCm39)	H277L	possibly damaging	Het
Col6a5	A	T	9: 105,822,732 (GRCm39)	D208E	unknown	Het
Cul3	T	A	1: 80,255,169 (GRCm39)	S544C	probably damaging	Het
Enpp1	C	A	10: 24,527,234 (GRCm39)	R651L	probably benign	Het
Epha10	C	T	4: 124,808,649 (GRCm39)	A766V		Het
Epor	A	G	9: 21,870,522 (GRCm39)	Y453H	probably damaging	Het
Fam13a	T	C	6: 58,930,508 (GRCm39)	K468R	probably benign	Het
Ffar4	C	T	19: 38,086,083 (GRCm39)	A170V	probably benign	Het
Fhip1a	A	T	3: 85,583,565 (GRCm39)	Y410*	probably null	Het
Gm10203	A	G	6: 149,031,740 (GRCm39)	Y15C	unknown	Het
Kansl1	T	C	11: 104,247,566 (GRCm39)	T595A	probably benign	Het
Lmtk2	A	T	5: 144,037,338 (GRCm39)		probably benign	Het
Mybl2	G	A	2: 162,917,843 (GRCm39)	V69I	possibly damaging	Het
Myo1d	T	C	11: 80,375,093 (GRCm39)	K994E	probably benign	Het
Or5p75-ps1	C	A	7: 108,107,800 (GRCm39)	T179K	unknown	Het
Pcdhga10	A	T	18: 37,882,421 (GRCm39)	R727S	probably benign	Het
Pgp	T	A	17: 24,689,809 (GRCm39)	L109Q	probably damaging	Het
Piwil2	C	T	14: 70,660,421 (GRCm39)	G68D	probably benign	Het
Pms2	T	A	5: 143,853,214 (GRCm39)	I193N	probably damaging	Het
Pnpla7	T	A	2: 24,942,390 (GRCm39)	L1236*	probably null	Het
Pole2	A	G	12: 69,249,731 (GRCm39)	V489A	possibly damaging	Het
Rapgef2	G	A	3: 79,019,495 (GRCm39)	L59F	probably damaging	Het
Rnf32	T	C	5: 29,429,145 (GRCm39)	S241P	probably damaging	Het
Samd9l	T	A	6: 3,375,830 (GRCm39)	K477I	possibly damaging	Het
Stn1	C	T	19: 47,513,125 (GRCm39)		probably null	Het
Svep1	A	G	4: 58,070,577 (GRCm39)	V2403A	possibly damaging	Het
Synrg	T	C	11: 83,881,747 (GRCm39)	M361T	probably benign	Het
Tbc1d2b	A	T	9: 90,152,563 (GRCm39)	Y68N	probably damaging	Het
Tbc1d4	A	T	14: 101,845,895 (GRCm39)	M1K	probably null	Het
Thsd1	C	T	8: 22,733,268 (GRCm39)	P105L	probably benign	Het
Tnxb	T	C	17: 34,904,796 (GRCm39)	L1187P	probably damaging	Het
Trio	T	C	15: 27,846,843 (GRCm39)	T1057A	probably benign	Het
Txndc11	A	G	16: 10,952,156 (GRCm39)	L73P	probably damaging	Het
Uck1	G	A	2: 32,148,179 (GRCm39)	R182*	probably null	Het
Vangl1	T	C	3: 102,070,665 (GRCm39)	S424G	probably damaging	Het
Vmn2r69	A	G	7: 85,056,084 (GRCm39)	W685R	probably benign	Het
Vmn2r69	G	A	7: 85,060,768 (GRCm39)	S272L	probably damaging	Het
Zbtb18	A	T	1: 177,275,648 (GRCm39)	D327V	probably benign	Het
Zfp607b	T	C	7: 27,403,092 (GRCm39)	F516S	probably damaging	Het
Zzz3	A	G	3: 152,133,468 (GRCm39)	I175M	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- TGCTGGGAAACTCTGAGTGG -3'
(R):5'- GCCATGGCTATCTTACTCAGC -3'

Sequencing Primer
(F):5'- CTCTGAGTGGATGGATGGGAAC -3'
(R):5'- ATGGCTATCTTACTCAGCACTCGAAC -3'

Posted On

2022-07-18