Mutagenetix > Incidental Mutation

Incidental Mutation 'R8203:Sar1b'

635775

Institutional Source

Beutler Lab

Gene Symbol

Sar1b

Ensembl Gene

ENSMUSG00000020386

Gene Name

secretion associated Ras related GTPase 1B

Synonyms

2900019I22Rik, 2310075M17Rik, Sara2

MMRRC Submission

067626-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8203 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51654514-51682752 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51670524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 23 (K23E)

Ref Sequence

ENSEMBL: ENSMUSP00000020653 (fasta)

Gene Model

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

AlphaFold

Q9CQC9

Predicted Effect

probably benign
Transcript: ENSMUST00000020653
AA Change: K23E

PolyPhen 2 Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000020653
Gene: ENSMUSG00000020386
AA Change: K23E

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

Meta Mutation Damage Score

0.0889

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

98% (53/54)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	G	15: 91,075,369 (GRCm39)	I148T	probably benign	Het
Agbl3	A	G	6: 34,776,414 (GRCm39)	T307A	probably damaging	Het
Ahsa1	A	G	12: 87,315,042 (GRCm39)	D65G	probably damaging	Het
Aicda	T	C	6: 122,538,076 (GRCm39)	V78A	possibly damaging	Het
Arhgef5	A	G	6: 43,257,579 (GRCm39)	D1282G	probably damaging	Het
Atf7ip	T	C	6: 136,583,781 (GRCm39)	S1271P	probably damaging	Het
Atrn	G	A	2: 130,802,469 (GRCm39)	D537N	probably benign	Het
Brd10	A	T	19: 29,693,443 (GRCm39)	S2017T	probably benign	Het
Cep170	T	A	1: 176,596,877 (GRCm39)	Q493H	probably benign	Het
Cltc	A	T	11: 86,594,986 (GRCm39)	Y1371N	possibly damaging	Het
Col12a1	T	C	9: 79,588,831 (GRCm39)	T1095A	possibly damaging	Het
Cxcr5	T	C	9: 44,425,451 (GRCm39)	M69V	probably benign	Het
Cyp2c69	A	T	19: 39,869,584 (GRCm39)	V145E	probably damaging	Het
Ddx3y	T	C	Y: 1,269,827 (GRCm39)	E185G	probably benign	Het
Dgke	G	A	11: 88,941,193 (GRCm39)	A330V	probably benign	Het
Dyrk4	A	G	6: 126,871,797 (GRCm39)	L157P	probably damaging	Het
Ermard	T	A	17: 15,240,548 (GRCm39)	S337R	possibly damaging	Het
Etl4	A	T	2: 20,789,916 (GRCm39)	M805L	possibly damaging	Het
Flvcr2	GTAGTGTATA	GTA	12: 85,849,922 (GRCm39)		probably null	Het
Fmn1	T	A	2: 113,355,620 (GRCm39)	M785K	unknown	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Gabrg3	G	A	7: 56,423,008 (GRCm39)	T230I	possibly damaging	Het
Gle1	A	G	2: 29,825,522 (GRCm39)	D4G	probably benign	Het
Gm5468	T	C	15: 25,414,527 (GRCm39)	S26P	noncoding transcript	Het
Igsf10	A	T	3: 59,236,254 (GRCm39)	L1309Q	probably benign	Het
Lipf	A	G	19: 33,944,283 (GRCm39)	K164R	probably benign	Het
Luc7l	C	A	17: 26,485,333 (GRCm39)	T111K	possibly damaging	Het
Masp2	A	G	4: 148,696,599 (GRCm39)	T399A	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Naip1	T	C	13: 100,562,328 (GRCm39)	I946V	probably benign	Het
Neb	T	A	2: 52,039,259 (GRCm39)	K6927*	probably null	Het
Nipal4	A	T	11: 46,041,147 (GRCm39)	D349E	probably damaging	Het
Or12j2	A	T	7: 139,915,939 (GRCm39)	T55S	probably benign	Het
Or5al7	T	A	2: 85,992,844 (GRCm39)	I150F	probably benign	Het
Or7g22	A	G	9: 19,049,170 (GRCm39)	N294D	probably damaging	Het
Pdik1l	A	T	4: 134,006,676 (GRCm39)	H154Q	unknown	Het
Polr2m	T	G	9: 71,386,768 (GRCm39)	M338L	probably benign	Het
Rab3gap2	T	C	1: 184,999,376 (GRCm39)	L995P	probably damaging	Het
Rnf17	T	A	14: 56,705,179 (GRCm39)	H694Q	probably benign	Het
Setd7	A	T	3: 51,437,519 (GRCm39)	Y245*	probably null	Het
Shpk	A	C	11: 73,104,904 (GRCm39)	D171A	probably benign	Het
Slc2a7	G	T	4: 150,243,015 (GRCm39)	E279*	probably null	Het
Slco4a1	T	C	2: 180,106,592 (GRCm39)	V258A	probably damaging	Het
Srcin1	G	T	11: 97,457,539 (GRCm39)	P62Q	probably damaging	Het
Tbc1d2	A	G	4: 46,606,476 (GRCm39)	F823S	probably damaging	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tdrd9	T	A	12: 111,992,064 (GRCm39)	V613E	probably damaging	Het
Tsc1	A	G	2: 28,563,007 (GRCm39)		probably null	Het
Ulk4	A	T	9: 120,997,274 (GRCm39)	M766K	probably damaging	Het
Wdr36	G	T	18: 32,985,136 (GRCm39)	G481*	probably null	Het
Yme1l1	G	A	2: 23,054,538 (GRCm39)	R119H	probably benign	Het
Zfp106	G	A	2: 120,349,559 (GRCm39)	T1644I	probably damaging	Het

Other mutations in Sar1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01447:Sar1b	APN	11	51,682,274 (GRCm39)	utr 3 prime	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- GTCACTTAGGGAAGGACAGC -3'
(R):5'- ACCCAGCTATTTTAGGAACAGG -3'

Sequencing Primer
(F):5'- CGCACATGCACTCAGGAATTCTAG -3'
(R):5'- CCAGCTATTTTAGGAACAGGATAAAC -3'

Posted On

2020-07-13