Mutagenetix > Incidental Mutation

Incidental Mutation 'R6367:Tuba1c'

512759

Institutional Source

Beutler Lab

Gene Symbol

Tuba1c

Ensembl Gene

ENSMUSG00000043091

Gene Name

tubulin, alpha 1C

Synonyms

M[a]6, Tuba6

MMRRC Submission

044517-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R6367 (G1)

Quality Score

166.009

Status

Not validated

Chromosome

Chromosomal Location

98927772-98935986 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98935334 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 265 (I265T)

Ref Sequence

ENSEMBL: ENSMUSP00000051033 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058914]

AlphaFold

P68373

Predicted Effect

probably damaging
Transcript: ENSMUST00000058914
AA Change: I265T

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

SMART Domains

Protein: ENSMUSP00000051033
Gene: ENSMUSG00000043091
AA Change: I265T

Domain	Start	End	E-Value	Type
Tubulin	49	246	6.98e-83	SMART
Tubulin_C	248	393	9.05e-59	SMART
low complexity region	433	448	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230447

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.7%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,166,248 (GRCm39)	N54D	possibly damaging	Het
Abca4	A	C	3: 121,897,229 (GRCm39)	Q636P	probably damaging	Het
Agk	T	C	6: 40,363,875 (GRCm39)	F285S	probably benign	Het
Als2	C	A	1: 59,238,299 (GRCm39)	V678L	probably benign	Het
Arhgap17	T	C	7: 122,907,586 (GRCm39)	*231W	probably null	Het
Atp11b	A	G	3: 35,838,686 (GRCm39)	T89A	probably damaging	Het
Axl	A	T	7: 25,486,858 (GRCm39)	C50S	probably damaging	Het
Cachd1	A	G	4: 100,860,167 (GRCm39)	D1246G	probably damaging	Het
Dip2b	A	T	15: 100,013,795 (GRCm39)	Q57L	possibly damaging	Het
Dnah14	A	G	1: 181,582,951 (GRCm39)		probably null	Het
Enpep	G	T	3: 129,125,730 (GRCm39)	T134N	possibly damaging	Het
Ets1	C	T	9: 32,645,256 (GRCm39)	Q168*	probably null	Het
Fanci	T	C	7: 79,075,943 (GRCm39)	C529R	probably damaging	Het
Fbxw28	A	G	9: 109,168,599 (GRCm39)		probably null	Het
Gucy2c	C	T	6: 136,686,776 (GRCm39)	E796K	probably damaging	Het
Igsf9b	G	A	9: 27,220,821 (GRCm39)	W62*	probably null	Het
Kcng1	C	A	2: 168,104,572 (GRCm39)	V425L	probably damaging	Het
Kndc1	T	C	7: 139,493,422 (GRCm39)	S463P	probably damaging	Het
Lrba	G	C	3: 86,275,869 (GRCm39)	A1746P	probably benign	Het
Mgat4c	G	T	10: 102,221,015 (GRCm39)		probably null	Het
Nckap1l	G	A	15: 103,384,149 (GRCm39)	M582I	probably benign	Het
Oacyl	G	T	18: 65,858,515 (GRCm39)	R207L	probably damaging	Het
Or12e13	T	C	2: 87,663,937 (GRCm39)	C185R	probably damaging	Het
Or2m12	C	T	16: 19,104,822 (GRCm39)	V224M	probably damaging	Het
Or4c52	A	G	2: 89,845,360 (GRCm39)	I29V	probably benign	Het
Or51f5	C	A	7: 102,424,036 (GRCm39)	Q102K	possibly damaging	Het
Pacsin2	C	T	15: 83,266,033 (GRCm39)	A55T	probably benign	Het
Plekhm2	T	C	4: 141,367,016 (GRCm39)	D208G	probably damaging	Het
Ptpru	T	C	4: 131,501,663 (GRCm39)	D1181G	probably benign	Het
Safb	A	G	17: 56,900,845 (GRCm39)		probably benign	Het
Scp2	T	A	4: 107,969,447 (GRCm39)	Y35F	probably damaging	Het
Secisbp2	A	G	13: 51,836,177 (GRCm39)	Y757C	probably damaging	Het
Sp110	C	T	1: 85,522,013 (GRCm39)	V97M	probably benign	Het
Ssx2ip	A	G	3: 146,124,921 (GRCm39)	Y82C	probably benign	Het
Svopl	A	T	6: 37,996,614 (GRCm39)	W288R	possibly damaging	Het
Tdg	T	C	10: 82,483,822 (GRCm39)	Y345H	possibly damaging	Het
Tmem109	A	G	19: 10,851,727 (GRCm39)	F53S	possibly damaging	Het
Tpsab1	G	T	17: 25,562,448 (GRCm39)	T293N	probably damaging	Het
Trpm8	A	G	1: 88,287,405 (GRCm39)	D796G	probably damaging	Het
Unc80	T	C	1: 66,711,925 (GRCm39)	V2749A	probably benign	Het
Utrn	A	G	10: 12,623,719 (GRCm39)	L173P	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wbp2	G	T	11: 115,974,741 (GRCm39)	T31N	probably benign	Het
Wdr1	G	T	5: 38,703,189 (GRCm39)	A129D	possibly damaging	Het
Yod1	G	A	1: 130,645,275 (GRCm39)	G19S	probably damaging	Het

Other mutations in Tuba1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02190:Tuba1c	APN	15	98,935,870 (GRCm39)	missense	unknown
R2261:Tuba1c	UTSW	15	98,935,757 (GRCm39)	missense	probably damaging	1.00
R2262:Tuba1c	UTSW	15	98,935,757 (GRCm39)	missense	probably damaging	1.00
R4939:Tuba1c	UTSW	15	98,935,835 (GRCm39)	missense	probably damaging	1.00
R6397:Tuba1c	UTSW	15	98,935,738 (GRCm39)	missense	probably benign	0.29
R6999:Tuba1c	UTSW	15	98,935,193 (GRCm39)	missense	probably benign	0.00
R8146:Tuba1c	UTSW	15	98,935,496 (GRCm39)	missense	probably damaging	1.00
R8186:Tuba1c	UTSW	15	98,935,396 (GRCm39)	missense	probably benign
R8403:Tuba1c	UTSW	15	98,931,985 (GRCm39)	missense	probably damaging	0.98
R9192:Tuba1c	UTSW	15	98,935,737 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATGGTAGACAATGAGGCCATCTATG -3'
(R):5'- CTTGATGGTGGCAATGGCAG -3'

Sequencing Primer
(F):5'- CAATGAGGCCATCTATGACATCTGTC -3'
(R):5'- GCAGCATTGACATCTTTGGGAAC -3'

Posted On

2018-04-27