Mutagenetix > Incidental Mutation

Incidental Mutation 'R6397:Tuba1c'

516045

Institutional Source

Beutler Lab

Gene Symbol

Tuba1c

Ensembl Gene

ENSMUSG00000043091

Gene Name

tubulin, alpha 1C

Synonyms

M[a]6, Tuba6

MMRRC Submission

044545-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R6397 (G1)

Quality Score

130.008

Status

Not validated

Chromosome

Chromosomal Location

98927772-98935986 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 98935738 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 400 (A400T)

Ref Sequence

ENSEMBL: ENSMUSP00000051033 (fasta)

Gene Model

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

AlphaFold

P68373

Predicted Effect

probably benign
Transcript: ENSMUST00000058914
AA Change: A400T

PolyPhen 2 Score 0.287 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000051033
Gene: ENSMUSG00000043091
AA Change: A400T

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: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.5%

Validation Efficiency

94% (29/31)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgef3	G	T	10: 18,483,413 (GRCm39)	S1437*	probably null	Het
Cdh1	T	C	8: 107,330,922 (GRCm39)	S18P	possibly damaging	Het
Dipk1a	T	A	5: 108,059,504 (GRCm39)	K105*	probably null	Het
Dmbt1	T	C	7: 130,705,308 (GRCm39)	V1137A	possibly damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Gm3486	G	A	14: 41,208,343 (GRCm39)	L123F	probably benign	Het
Ifi203	C	A	1: 173,754,770 (GRCm39)	V654L	probably benign	Het
Kalrn	A	G	16: 33,813,355 (GRCm39)	L787P	probably damaging	Het
Kazald1	A	G	19: 45,065,317 (GRCm39)	E66G	probably benign	Het
Map4	T	A	9: 109,856,784 (GRCm39)	D151E	possibly damaging	Het
Msrb3	G	A	10: 120,627,356 (GRCm39)	T42I	probably damaging	Het
Nfatc1	C	T	18: 80,679,156 (GRCm39)	C744Y	probably damaging	Het
Nlgn1	T	A	3: 25,487,827 (GRCm39)	H836L	possibly damaging	Het
Nrxn2	A	G	19: 6,582,152 (GRCm39)	N653D	probably damaging	Het
Oprk1	A	G	1: 5,668,971 (GRCm39)	Y139C	probably damaging	Het
Or2ab1	A	G	11: 58,488,338 (GRCm39)	T39A	probably benign	Het
Pcdhb5	T	A	18: 37,454,558 (GRCm39)	S313T	probably benign	Het
Pcdhb8	C	T	18: 37,488,516 (GRCm39)	R65*	probably null	Het
Phf8-ps	T	C	17: 33,285,219 (GRCm39)	N528D	probably benign	Het
Pstpip2	T	G	18: 77,961,079 (GRCm39)	C221G	probably benign	Het
Sall2	T	A	14: 52,552,610 (GRCm39)	H195L	probably damaging	Het
Snx7	A	G	3: 117,640,272 (GRCm39)	I79T	probably benign	Het
Sptbn2	A	T	19: 4,792,446 (GRCm39)	E1367V	possibly damaging	Het
Stau1	A	G	2: 166,792,927 (GRCm39)	V346A	possibly damaging	Het
Tchh	A	G	3: 93,353,173 (GRCm39)	E871G	unknown	Het
Tlr9	A	G	9: 106,102,305 (GRCm39)	N532S	probably damaging	Het
Vmn2r86	A	T	10: 130,282,131 (GRCm39)	Y828*	probably null	Het
Vps45	A	G	3: 95,950,164 (GRCm39)	I255T	probably benign	Het
Yap1	T	C	9: 8,001,467 (GRCm39)	Y173C	probably damaging	Het
Zc3h7b	A	T	15: 81,677,055 (GRCm39)	I821F	probably benign	Het
Zftraf1	A	T	15: 76,532,391 (GRCm39)	I239N	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
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'- CCAAGCGTACCATCCAGTTTG -3'
(R):5'- AGGACAGTTAGAGCACACAC -3'

Sequencing Primer
(F):5'- TTTGTGGACTGGTGCCCCAC -3'
(R):5'- CCACAGAAGTATAGAATGGCAGCAC -3'

Posted On

2018-05-04