Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01447:Sar1b'

84484

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sar1b

Ensembl Gene

ENSMUSG00000020386

Gene Name

secretion associated Ras related GTPase 1B

Synonyms

2900019I22Rik, 2310075M17Rik, Sara2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01447

Quality Score

Status

Chromosome

Chromosomal Location

51654514-51682752 bp(+) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

C to T at 51682274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000020653 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020653]

AlphaFold

Q9CQC9

Predicted Effect

probably benign
Transcript: ENSMUST00000020653

SMART Domains

Protein: ENSMUSP00000020653
Gene: ENSMUSG00000020386

Domain	Start	End	E-Value	Type
SAR	5	197	9.22e-101	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a small GTPase that acts as a homodimer. The encoded protein is activated by the guanine nucleotide exchange factor PREB and is involved in protein transport from the endoplasmic reticulum to the Golgi. This protein is part of the COPII coat complex. Defects in this gene are a cause of chylomicron retention disease (CMRD), also known as Anderson disease (ANDD). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Mar 2010]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apbb1ip	T	G	2: 22,743,194 (GRCm39)	I342S	probably damaging	Het
Armh4	A	T	14: 50,005,923 (GRCm39)	S591T	probably damaging	Het
Atp6v1e1	T	C	6: 120,772,654 (GRCm39)		probably benign	Het
Brwd1	A	T	16: 95,848,579 (GRCm39)	C533*	probably null	Het
Cacna2d4	A	G	6: 119,219,865 (GRCm39)	S212G	probably damaging	Het
Ccn5	A	G	2: 163,670,942 (GRCm39)	R150G	probably damaging	Het
Cit	T	C	5: 116,011,902 (GRCm39)		probably benign	Het
Clca3a1	C	T	3: 144,713,539 (GRCm39)	M697I	probably benign	Het
Cmklr1	T	C	5: 113,752,282 (GRCm39)	T240A	probably benign	Het
D630003M21Rik	T	C	2: 158,059,276 (GRCm39)	D208G	probably benign	Het
Egr3	C	A	14: 70,316,732 (GRCm39)	P143Q	probably damaging	Het
Fbxw18	T	A	9: 109,530,675 (GRCm39)	S41C	probably damaging	Het
Focad	T	A	4: 88,244,465 (GRCm39)	I815N	unknown	Het
Heatr5b	T	C	17: 79,137,026 (GRCm39)	T165A	probably benign	Het
Iqub	G	T	6: 24,505,627 (GRCm39)	L94I	probably benign	Het
Lrrc32	T	C	7: 98,147,583 (GRCm39)	L121P	probably damaging	Het
Mansc1	G	A	6: 134,594,289 (GRCm39)	L118F	probably damaging	Het
Mtor	A	G	4: 148,615,214 (GRCm39)	H1693R	possibly damaging	Het
Muc5b	A	G	7: 141,416,831 (GRCm39)	Q3259R	probably benign	Het
Nmnat2	A	G	1: 152,988,189 (GRCm39)	S273G	possibly damaging	Het
Npr2	T	C	4: 43,640,554 (GRCm39)	C336R	possibly damaging	Het
Or10al6	C	T	17: 38,083,122 (GRCm39)	L193F	probably damaging	Het
Or1f19	A	G	16: 3,410,848 (GRCm39)	N196S	possibly damaging	Het
Or1j11	A	T	2: 36,311,466 (GRCm39)	I19F	probably damaging	Het
Or56b1b	A	G	7: 108,164,216 (GRCm39)	V262A	possibly damaging	Het
Or5aq1	A	T	2: 86,966,343 (GRCm39)	Y107*	probably null	Het
Or5d36	T	C	2: 87,901,468 (GRCm39)	N86S	possibly damaging	Het
Rad54l2	C	T	9: 106,579,971 (GRCm39)	A967T	probably damaging	Het
Rspo1	T	C	4: 124,898,829 (GRCm39)	V50A	possibly damaging	Het
Scamp1	C	T	13: 94,340,530 (GRCm39)	A280T	probably damaging	Het
Spcs2	A	G	7: 99,488,911 (GRCm39)	I251T	probably benign	Het
Sspo	G	T	6: 48,441,600 (GRCm39)		probably null	Het
Tpm2	T	A	4: 43,518,251 (GRCm39)	K251*	probably null	Het
Ttn	A	G	2: 76,571,250 (GRCm39)	S26548P	probably damaging	Het
Ugcg	T	G	4: 59,213,865 (GRCm39)	V149G	possibly damaging	Het
Unc79	T	A	12: 103,045,177 (GRCm39)	N784K	probably damaging	Het
Vit	A	G	17: 78,932,633 (GRCm39)	D580G	probably damaging	Het
Vmn1r83	T	C	7: 12,055,424 (GRCm39)	K211R	probably benign	Het
Zbtb3	A	G	19: 8,781,680 (GRCm39)	Y431C	probably damaging	Het
Zfp608	T	C	18: 55,032,083 (GRCm39)	D619G	possibly damaging	Het

Other mutations in Sar1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02073:Sar1b	APN	11	51,680,020 (GRCm39)	splice site	probably benign
R2018:Sar1b	UTSW	11	51,670,514 (GRCm39)	critical splice acceptor site	probably null
R5901:Sar1b	UTSW	11	51,670,576 (GRCm39)	missense	possibly damaging	0.78
R6888:Sar1b	UTSW	11	51,679,019 (GRCm39)	missense	probably damaging	0.98
R7201:Sar1b	UTSW	11	51,679,079 (GRCm39)	missense	probably benign	0.10
R7456:Sar1b	UTSW	11	51,682,181 (GRCm39)	missense	probably benign
R7548:Sar1b	UTSW	11	51,680,094 (GRCm39)	missense	probably benign
R8013:Sar1b	UTSW	11	51,670,621 (GRCm39)	missense	possibly damaging	0.80
R8203:Sar1b	UTSW	11	51,670,524 (GRCm39)	missense	probably benign	0.45
R9571:Sar1b	UTSW	11	51,680,064 (GRCm39)	missense	probably damaging	1.00
R9641:Sar1b	UTSW	11	51,670,573 (GRCm39)	missense	probably damaging	1.00
X0065:Sar1b	UTSW	11	51,673,658 (GRCm39)	missense	probably benign	0.11

Posted On

2013-11-11