Mutagenetix > Incidental Mutation

Incidental Mutation 'R7636:Tubg2'

589972

Institutional Source

Beutler Lab

Gene Symbol

Tubg2

Ensembl Gene

ENSMUSG00000045007

Gene Name

tubulin, gamma 2

Synonyms

Tubgl

MMRRC Submission

045722-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7636 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101046733-101052613 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 101050913 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 213 (I213F)

Ref Sequence

ENSEMBL: ENSMUSP00000045901 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043397] [ENSMUST00000043654] [ENSMUST00000129895] [ENSMUST00000164474]

AlphaFold

Q8VCK3

Predicted Effect

probably benign
Transcript: ENSMUST00000043397

SMART Domains

Protein: ENSMUSP00000046044
Gene: ENSMUSG00000035172

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	23	40	N/A	INTRINSIC
PH	96	201	1.9e-5	SMART
low complexity region	241	251	N/A	INTRINSIC
Pfam:MyTH4	285	398	4.2e-21	PFAM
B41	400	664	2.91e-4	SMART
low complexity region	750	766	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000043654
AA Change: I213F

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

SMART Domains

Protein: ENSMUSP00000045901
Gene: ENSMUSG00000045007
AA Change: I213F

Domain	Start	End	E-Value	Type
Tubulin	48	247	1.11e-58	SMART
Tubulin_C	249	393	4.52e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129895

SMART Domains

Protein: ENSMUSP00000137841
Gene: ENSMUSG00000035172

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	23	40	N/A	INTRINSIC
PH	96	201	1.9e-5	SMART
low complexity region	241	251	N/A	INTRINSIC
Pfam:MyTH4	281	399	2.7e-16	PFAM
B41	400	664	5.17e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000139200

Predicted Effect

probably benign
Transcript: ENSMUST00000164474

SMART Domains

Protein: ENSMUSP00000127088
Gene: ENSMUSG00000035172

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	23	40	N/A	INTRINSIC
PH	96	201	1.9e-5	SMART
low complexity region	241	251	N/A	INTRINSIC
Pfam:MyTH4	281	399	3.3e-16	PFAM
B41	400	661	6.14e-4	SMART
low complexity region	747	763	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (55/55)

MGI Phenotype

PHENOTYPE: Homozygous null mice are viable and fertile with normal weight and no significant histological abnormalities in the brain or other tissues. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	C	T	16: 16,935,701 (GRCm39)	E199K	possibly damaging	Het
Akap13	C	A	7: 75,259,621 (GRCm39)	N748K	probably benign	Het
Aldh16a1	G	T	7: 44,796,955 (GRCm39)	P58T	unknown	Het
Amhr2	T	A	15: 102,360,893 (GRCm39)	C343S	probably damaging	Het
Ankrd17	A	T	5: 90,380,239 (GRCm39)	M2483K	possibly damaging	Het
Ano3	A	T	2: 110,513,048 (GRCm39)	L649*	probably null	Het
Apob	T	C	12: 8,059,516 (GRCm39)	I2666T	possibly damaging	Het
C1ql3	A	T	2: 13,015,621 (GRCm39)	V13E	probably benign	Het
Casp12	A	G	9: 5,358,344 (GRCm39)	I384V	probably benign	Het
Cimip2a	A	T	2: 25,108,832 (GRCm39)	H7L	probably damaging	Het
Clcn1	A	T	6: 42,268,268 (GRCm39)	K147*	probably null	Het
Ctnna1	T	A	18: 35,356,526 (GRCm39)	N398K	possibly damaging	Het
Dcdc2a	A	T	13: 25,286,605 (GRCm39)	K176M	probably damaging	Het
Depdc5	T	A	5: 33,075,327 (GRCm39)	S502T	probably benign	Het
Fam83e	G	A	7: 45,376,450 (GRCm39)	D388N	probably damaging	Het
Fbxl15	G	A	19: 46,317,614 (GRCm39)	E99K	probably benign	Het
Fbxw2	T	C	2: 34,702,956 (GRCm39)	T186A	probably benign	Het
Frem2	T	A	3: 53,560,668 (GRCm39)	M1280L	probably benign	Het
Gbgt1	T	A	2: 28,395,326 (GRCm39)	D321E	probably damaging	Het
Gsdmc2	T	A	15: 63,700,041 (GRCm39)	T244S	probably benign	Het
Heatr5a	C	A	12: 51,934,979 (GRCm39)	G1675W	probably damaging	Het
Heatr5a	G	A	12: 51,999,341 (GRCm39)	L287F	probably damaging	Het
Hfm1	C	A	5: 107,065,332 (GRCm39)	A116S	probably benign	Het
Insr	A	G	8: 3,308,709 (GRCm39)	I109T	probably damaging	Het
Itga4	A	G	2: 79,144,176 (GRCm39)	I688V	probably benign	Het
Lipe	A	G	7: 25,088,042 (GRCm39)	M49T	probably benign	Het
Lrriq3	A	G	3: 154,893,787 (GRCm39)	Y496C	probably damaging	Het
Lyst	T	C	13: 13,791,332 (GRCm39)		probably null	Het
Megf10	T	A	18: 57,410,061 (GRCm39)	I614N	possibly damaging	Het
Mkx	A	G	18: 7,000,630 (GRCm39)	I104T	possibly damaging	Het
Mrgpra4	C	A	7: 47,630,721 (GRCm39)	L293F	possibly damaging	Het
Olfm2	A	G	9: 20,579,593 (GRCm39)	V386A	possibly damaging	Het
Or2w3b	A	T	11: 58,623,273 (GRCm39)	N239K	possibly damaging	Het
Or4a15	A	T	2: 89,193,583 (GRCm39)	Y63*	probably null	Het
Or52s6	C	A	7: 103,092,040 (GRCm39)	D97Y	probably damaging	Het
Pkd2l1	G	T	19: 44,179,870 (GRCm39)	D113E	possibly damaging	Het
Rab11fip2	A	T	19: 59,931,317 (GRCm39)	I39K	possibly damaging	Het
Rab1b	A	T	19: 5,150,810 (GRCm39)	V99E	probably damaging	Het
Rad54l2	A	T	9: 106,597,586 (GRCm39)	L140Q	probably damaging	Het
Repin1	T	C	6: 48,573,299 (GRCm39)	F76S	probably benign	Het
Robo1	A	G	16: 72,360,615 (GRCm39)	D9G		Het
Scn3a	A	G	2: 65,328,033 (GRCm39)	L819P	probably damaging	Het
Scn7a	A	T	2: 66,574,172 (GRCm39)	N150K	possibly damaging	Het
Sh2d3c	T	C	2: 32,615,023 (GRCm39)	S38P	probably benign	Het
Sin3b	A	T	8: 73,474,362 (GRCm39)	K549*	probably null	Het
Sorl1	A	G	9: 42,003,630 (GRCm39)	F222S	possibly damaging	Het
Spata31h1	T	A	10: 82,130,973 (GRCm39)	D679V	probably benign	Het
Tmem147	A	T	7: 30,427,726 (GRCm39)		probably null	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tmem179	C	T	12: 112,477,177 (GRCm39)		probably null	Het
Zfhx3	T	C	8: 109,673,441 (GRCm39)	I1497T	probably benign	Het
Zfp128	A	T	7: 12,624,039 (GRCm39)	M136L	probably benign	Het
Zzz3	G	A	3: 152,133,289 (GRCm39)	A116T	probably benign	Het

Other mutations in Tubg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01419:Tubg2	APN	11	101,049,883 (GRCm39)	missense	probably benign
IGL02302:Tubg2	APN	11	101,046,971 (GRCm39)	missense	probably damaging	1.00
IGL02693:Tubg2	APN	11	101,051,725 (GRCm39)	missense	probably damaging	1.00
R1378:Tubg2	UTSW	11	101,047,699 (GRCm39)	nonsense	probably null
R1449:Tubg2	UTSW	11	101,047,699 (GRCm39)	nonsense	probably null
R3963:Tubg2	UTSW	11	101,051,224 (GRCm39)	critical splice donor site	probably null
R6156:Tubg2	UTSW	11	101,051,635 (GRCm39)	missense	possibly damaging	0.93
R7289:Tubg2	UTSW	11	101,050,897 (GRCm39)	missense	probably damaging	1.00
R8118:Tubg2	UTSW	11	101,052,304 (GRCm39)	missense	probably damaging	0.98
R8179:Tubg2	UTSW	11	101,051,082 (GRCm39)	missense	probably benign	0.00
R8559:Tubg2	UTSW	11	101,047,610 (GRCm39)	missense	probably damaging	0.99
R9067:Tubg2	UTSW	11	101,049,957 (GRCm39)	missense	probably damaging	1.00
R9375:Tubg2	UTSW	11	101,051,621 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTGGGAACATGCACGTATTTG -3'
(R):5'- GCTGACATGATGGTGGACAC -3'

Sequencing Primer
(F):5'- GGGAACATGCACGTATTTGTTTACAG -3'
(R):5'- ATGTCCCTCCTCTGATGA -3'

Posted On

2019-10-24