Incidental Mutation 'R5901:Sar1b'
ID 456335
Institutional Source Beutler Lab
Gene Symbol Sar1b
Ensembl Gene ENSMUSG00000020386
Gene Name secretion associated Ras related GTPase 1B
Synonyms 2900019I22Rik, 2310075M17Rik, Sara2
MMRRC Submission 043239-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5901 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 51654514-51682752 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 51670576 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 40 (T40I)
Ref Sequence ENSEMBL: ENSMUSP00000020653 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020653]
AlphaFold Q9CQC9
Predicted Effect possibly damaging
Transcript: ENSMUST00000020653
AA Change: T40I

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000020653
Gene: ENSMUSG00000020386
AA Change: T40I

DomainStartEndE-ValueType
SAR 5 197 9.22e-101 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136363
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.5%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik T A 11: 99,728,163 (GRCm39) S227C unknown Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Adamts15 C T 9: 30,813,786 (GRCm39) R793H probably damaging Het
Ankra2 A G 13: 98,407,644 (GRCm39) E38G probably damaging Het
Aqp8 G A 7: 123,061,807 (GRCm39) C8Y probably damaging Het
Atg9b A G 5: 24,597,017 (GRCm39) probably benign Het
Atp6v1b1 A G 6: 83,735,339 (GRCm39) E469G possibly damaging Het
B4gat1 T A 19: 5,089,241 (GRCm39) Y79* probably null Het
BB019430 T A 10: 58,540,014 (GRCm39) noncoding transcript Het
Calhm3 T C 19: 47,146,052 (GRCm39) Y51C probably damaging Het
Ccr2 C T 9: 123,906,239 (GRCm39) T173I possibly damaging Het
Cfap43 T C 19: 47,885,538 (GRCm39) D359G probably damaging Het
Dop1b A G 16: 93,566,639 (GRCm39) E1022G possibly damaging Het
Drd2 T A 9: 49,318,259 (GRCm39) C400* probably null Het
Efcab7 T A 4: 99,766,941 (GRCm39) H495Q probably damaging Het
Faim T C 9: 98,874,195 (GRCm39) V29A probably benign Het
Fancd2 T C 6: 113,526,326 (GRCm39) S350P probably damaging Het
Fbxw16 T C 9: 109,270,285 (GRCm39) E152G probably benign Het
Kif17 T C 4: 138,025,643 (GRCm39) probably null Het
Kif24 A T 4: 41,428,604 (GRCm39) S119T probably damaging Het
Ly6k A T 15: 74,670,429 (GRCm39) S38T probably benign Het
Mapk10 A G 5: 103,061,158 (GRCm39) S430P probably damaging Het
Megf10 G A 18: 57,410,180 (GRCm39) A654T probably benign Het
Mlph T C 1: 90,867,536 (GRCm39) L450P probably damaging Het
Otof T C 5: 30,532,323 (GRCm39) D1603G probably damaging Het
Pdcd11 T C 19: 47,116,771 (GRCm39) S1580P possibly damaging Het
Rad54b G A 4: 11,595,919 (GRCm39) R232H possibly damaging Het
Scyl2 C T 10: 89,496,124 (GRCm39) S242N probably benign Het
Sema4b A G 7: 79,874,715 (GRCm39) N702D possibly damaging Het
Slc16a11 A G 11: 70,107,172 (GRCm39) I394V probably benign Het
Stard9 A C 2: 120,531,851 (GRCm39) T2703P probably damaging Het
Stat5b A T 11: 100,695,733 (GRCm39) L83Q possibly damaging Het
Tas2r119 T A 15: 32,177,932 (GRCm39) V166D possibly damaging Het
Tmem117 T A 15: 94,612,839 (GRCm39) I125N probably benign Het
Tmem39a T C 16: 38,393,568 (GRCm39) I89T probably benign Het
Ubr4 T A 4: 139,178,565 (GRCm39) H3272Q probably damaging Het
Vmn1r7 T C 6: 57,001,591 (GRCm39) E223G probably damaging Het
Vmn2r78 T C 7: 86,603,796 (GRCm39) V658A probably damaging Het
Xirp2 A T 2: 67,343,410 (GRCm39) T1884S possibly damaging Het
Xkr4 A T 1: 3,286,901 (GRCm39) F430I probably damaging Het
Yae1d1 A G 13: 18,164,200 (GRCm39) M1T probably null Het
Zfand4 T C 6: 116,265,084 (GRCm39) V183A probably damaging Het
Other mutations in Sar1b
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- CGCACATGCACTCAGGAATTC -3'
(R):5'- CCAGGTCAATTACTACTTACCCAGC -3'

Sequencing Primer
(F):5'- GTCTGATGTCACTCTGACTG -3'
(R):5'- ACCCAGCTATTTTAGGAACAGG -3'
Posted On 2017-02-15