Mutagenetix > Incidental Mutation

Incidental Mutation 'R8146:Tuba1c'

632826

Institutional Source

Beutler Lab

Gene Symbol

Tuba1c

Ensembl Gene

ENSMUSG00000043091

Gene Name

tubulin, alpha 1C

Synonyms

M[a]6, Tuba6

MMRRC Submission

067574-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R8146 (G1)

Quality Score

223.009

Status

Not validated

Chromosome

Chromosomal Location

98927772-98935986 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98935496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 319 (Y319C)

Ref Sequence

ENSEMBL: ENSMUSP00000051033 (fasta)

Gene Model

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

AlphaFold

P68373

Predicted Effect

probably damaging
Transcript: ENSMUST00000058914
AA Change: Y319C

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

SMART Domains

Protein: ENSMUSP00000051033
Gene: ENSMUSG00000043091
AA Change: Y319C

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

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.6%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	T	G	2: 19,498,814 (GRCm39)	E393A	possibly damaging	Het
4930550C14Rik	A	G	9: 53,334,270 (GRCm39)	D171G	probably damaging	Het
Abca13	T	C	11: 9,347,829 (GRCm39)	Y3561H	probably damaging	Het
Adgra2	T	A	8: 27,604,202 (GRCm39)	V464D	probably damaging	Het
Adgrl1	C	A	8: 84,657,618 (GRCm39)	T408N	possibly damaging	Het
Anks1b	G	A	10: 90,143,560 (GRCm39)	R523Q	probably damaging	Het
Anks6	C	A	4: 47,043,605 (GRCm39)	A375S	unknown	Het
Bbs10	T	A	10: 111,136,396 (GRCm39)	I503K	probably benign	Het
Birc2	A	G	9: 7,818,797 (GRCm39)	I598T	probably damaging	Het
Cbl	A	T	9: 44,076,171 (GRCm39)	D339E	probably damaging	Het
Cdh4	C	A	2: 179,515,871 (GRCm39)	Q350K	possibly damaging	Het
Cep78	A	G	19: 15,933,727 (GRCm39)	L617P	probably damaging	Het
Cnbd2	T	G	2: 156,170,281 (GRCm39)	V122G	probably damaging	Het
Crem	A	T	18: 3,288,007 (GRCm39)	N158K	possibly damaging	Het
Cul1	T	C	6: 47,472,027 (GRCm39)	V56A	possibly damaging	Het
Dop1b	T	A	16: 93,546,827 (GRCm39)	I277N	possibly damaging	Het
Exoc3	T	C	13: 74,340,784 (GRCm39)	D340G	probably benign	Het
Exoc6b	A	C	6: 84,885,176 (GRCm39)	D254E	probably benign	Het
Fyttd1	A	G	16: 32,722,862 (GRCm39)	K268E	probably damaging	Het
Gbp8	T	A	5: 105,178,844 (GRCm39)	N157I	probably benign	Het
Hacd1	T	A	2: 14,049,605 (GRCm39)	S118C	probably damaging	Het
Hcn4	A	C	9: 58,731,027 (GRCm39)	E78A	unknown	Het
Inpp5e	T	A	2: 26,289,274 (GRCm39)	T549S	probably benign	Het
Kcnh4	T	C	11: 100,646,105 (GRCm39)	N281S	probably damaging	Het
Kdm5b	A	G	1: 134,552,864 (GRCm39)	D1280G	probably benign	Het
Lrfn3	A	G	7: 30,059,304 (GRCm39)	V307A	probably benign	Het
Mafb	A	G	2: 160,208,298 (GRCm39)	L100P	probably damaging	Het
Med24	C	T	11: 98,608,940 (GRCm39)	G119R	probably benign	Het
Mvp	G	T	7: 126,586,171 (GRCm39)	P866Q	probably benign	Het
Or51l4	A	G	7: 103,404,510 (GRCm39)	I94T	probably damaging	Het
Phykpl	T	C	11: 51,476,408 (GRCm39)	Y43H	probably damaging	Het
Prag1	T	G	8: 36,571,364 (GRCm39)	L649R	probably damaging	Het
Ptgdr2	T	C	19: 10,918,361 (GRCm39)	F293L	probably damaging	Het
Rasip1	T	G	7: 45,279,704 (GRCm39)	S316A	possibly damaging	Het
Rlf	G	A	4: 121,004,429 (GRCm39)	S1627L	probably benign	Het
Rtl1	T	C	12: 109,557,145 (GRCm39)	R1565G	probably benign	Het
Sart3	G	A	5: 113,886,018 (GRCm39)	T572M	probably damaging	Het
Sec24b	G	T	3: 129,789,573 (GRCm39)	S816*	probably null	Het
Slamf1	C	T	1: 171,619,887 (GRCm39)	P279L	probably benign	Het
Slc18a1	C	A	8: 69,495,401 (GRCm39)	V368F	possibly damaging	Het
Tap1	A	T	17: 34,408,206 (GRCm39)	D194V	probably damaging	Het
Unc79	T	A	12: 103,036,416 (GRCm39)	I579N	probably damaging	Het
Zbtb22	G	T	17: 34,135,956 (GRCm39)	V34L	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
R6367:Tuba1c	UTSW	15	98,935,334 (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
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'- TGGGGCCCTGAATGTTGATC -3'
(R):5'- TCAGCATGCACACAGCTCTC -3'

Sequencing Primer
(F):5'- GTTGATCTGACAGAATTCCAGACC -3'
(R):5'- ACACAGCTCTCTGCACCTTGG -3'

Posted On

2020-06-30