Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02190:Tuba1c'

283828

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tuba1c

Ensembl Gene

ENSMUSG00000043091

Gene Name

tubulin, alpha 1C

Synonyms

Tuba6, M[a]6

Accession Numbers

Is this an essential gene?

Not available question?

Stock #

IGL02190

Quality Score

Status

Chromosome

Chromosomal Location

99029891-99038110 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 99037989 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 444 (D444N)

Ref Sequence

ENSEMBL: ENSMUSP00000051033 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000058914
AA Change: D444N

SMART Domains

Protein: ENSMUSP00000051033
Gene: ENSMUSG00000043091
AA Change: D444N

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	T	C	5: 129,140,724		probably benign	Het
AI314180	A	T	4: 58,800,190	S1838R	probably benign	Het
Ano1	T	C	7: 144,618,883	E521G	probably benign	Het
As3mt	A	T	19: 46,719,945	I224F	probably benign	Het
Atp5j2	C	A	5: 145,183,832		probably benign	Het
Cacna1h	A	G	17: 25,433,026	V48A	probably benign	Het
Ctu2	T	C	8: 122,481,658		probably benign	Het
Efcab5	T	C	11: 77,121,314	R841G	probably benign	Het
Erbb3	A	T	10: 128,571,010		probably null	Het
Fkbp15	G	T	4: 62,304,822	P947T	possibly damaging	Het
Gabpb1	A	G	2: 126,653,549		probably benign	Het
Gcn1l1	G	T	5: 115,614,124	V2100L	probably damaging	Het
Gemin5	A	C	11: 58,134,842	V977G	probably damaging	Het
Gpr107	T	A	2: 31,178,320	Y265N	probably damaging	Het
Gpx8	T	C	13: 113,043,309		probably benign	Het
H2-Eb2	A	T	17: 34,334,374	N178I	probably damaging	Het
Ift172	C	T	5: 31,254,458	V1587I	possibly damaging	Het
Lrrc45	A	G	11: 120,718,508	T398A	probably damaging	Het
Mmrn1	G	T	6: 60,987,193	V1059L	probably benign	Het
Morn5	A	G	2: 36,079,515	D147G	probably benign	Het
Mphosph9	T	C	5: 124,265,425	R847G	possibly damaging	Het
Nutm1	C	T	2: 112,249,406	W721*	probably null	Het
Olfr1136	A	G	2: 87,693,063	M273T	probably benign	Het
Olfr347	T	C	2: 36,734,579	L86P	probably benign	Het
Olfr531	T	C	7: 140,400,120		probably benign	Het
Rgl3	A	G	9: 21,981,708	F227L	probably benign	Het
Ropn1l	G	T	15: 31,443,341	L182I	probably benign	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Scgb1a1	A	T	19: 9,087,867	L12Q	probably damaging	Het
Scp2	A	G	4: 108,087,128	S237P	probably benign	Het
Skint5	T	C	4: 113,940,765	Q207R	possibly damaging	Het
Slc16a5	A	G	11: 115,462,609	M1V	probably null	Het
Tox2	G	A	2: 163,323,006	R522H	possibly damaging	Het
Trip12	A	T	1: 84,766,070	N505K	probably damaging	Het
Vmn1r174	A	G	7: 23,754,827	E306G	unknown	Het
Vmn2r111	A	T	17: 22,570,773	F417L	probably benign	Het
Vmn2r15	A	T	5: 109,293,374	M206K	probably damaging	Het
Vmn2r95	G	T	17: 18,451,776	A592S	probably benign	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het

Other mutations in Tuba1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2261:Tuba1c	UTSW	15	99037876	missense	probably damaging	1.00
R2262:Tuba1c	UTSW	15	99037876	missense	probably damaging	1.00
R4939:Tuba1c	UTSW	15	99037954	missense	probably damaging	1.00
R6367:Tuba1c	UTSW	15	99037453	missense	probably damaging	1.00
R6397:Tuba1c	UTSW	15	99037857	missense	probably benign	0.29
R6999:Tuba1c	UTSW	15	99037312	missense	probably benign	0.00
R8146:Tuba1c	UTSW	15	99037615	missense	probably damaging	1.00
R8186:Tuba1c	UTSW	15	99037515	missense	probably benign
R8403:Tuba1c	UTSW	15	99034104	missense	probably damaging	0.98

Posted On

2015-04-16