Incidental Mutation 'R8013:Sar1b'
ID 617011
Institutional Source Beutler Lab
Gene Symbol Sar1b
Ensembl Gene ENSMUSG00000020386
Gene Name secretion associated Ras related GTPase 1B
Synonyms 2900019I22Rik, 2310075M17Rik, Sara2
MMRRC Submission 067453-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8013 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 51654514-51682752 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 51670621 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 55 (P55L)
Ref Sequence ENSEMBL: ENSMUSP00000020653 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020653]
AlphaFold Q9CQC9
Predicted Effect possibly damaging
Transcript: ENSMUST00000020653
AA Change: P55L

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000020653
Gene: ENSMUSG00000020386
AA Change: P55L

DomainStartEndE-ValueType
SAR 5 197 9.22e-101 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030458C11Rik C A 15: 12,824,615 (GRCm39) D7Y probably benign Het
Ahnak A G 19: 8,986,699 (GRCm39) D2661G unknown Het
Akap13 G A 7: 75,380,213 (GRCm39) R462H probably damaging Het
Apob T A 12: 8,060,798 (GRCm39) N3093K possibly damaging Het
Baz2a C T 10: 127,961,157 (GRCm39) R1627C probably benign Het
Baz2a T G 10: 127,961,161 (GRCm39) V1628G possibly damaging Het
Bbs7 A T 3: 36,648,536 (GRCm39) I404K probably damaging Het
Cacna1g T C 11: 94,347,796 (GRCm39) Y764C probably damaging Het
Casr G A 16: 36,330,006 (GRCm39) L443F probably benign Het
Cfap43 T A 19: 47,761,548 (GRCm39) I849F probably damaging Het
Cntn3 A T 6: 102,176,278 (GRCm39) H812Q probably benign Het
Cog1 A G 11: 113,546,990 (GRCm39) D528G probably damaging Het
Depdc5 C T 5: 33,131,186 (GRCm39) T1229M probably benign Het
Dis3 T A 14: 99,314,835 (GRCm39) R954W possibly damaging Het
Disp2 T A 2: 118,620,163 (GRCm39) Y298* probably null Het
Dnai3 T C 3: 145,787,040 (GRCm39) T332A probably damaging Het
Dock2 A C 11: 34,596,677 (GRCm39) I393S probably damaging Het
Dtd1 A G 2: 144,459,252 (GRCm39) D92G probably damaging Het
Eef2 T A 10: 81,014,030 (GRCm39) V121D probably damaging Het
Eml1 T A 12: 108,487,938 (GRCm39) I550N probably benign Het
Entpd7 A G 19: 43,716,494 (GRCm39) D496G probably benign Het
Ets2 T A 16: 95,517,144 (GRCm39) L292Q probably damaging Het
Ext1 T C 15: 52,939,283 (GRCm39) I589V possibly damaging Het
Fam20a T A 11: 109,576,332 (GRCm39) E142D possibly damaging Het
Farp1 T A 14: 121,479,813 (GRCm39) I368N probably damaging Het
Fars2 C T 13: 36,389,068 (GRCm39) Q186* probably null Het
Fbn2 T C 18: 58,237,153 (GRCm39) T617A possibly damaging Het
Fbxo38 T C 18: 62,663,882 (GRCm39) E203G possibly damaging Het
Fcgbpl1 G A 7: 27,836,966 (GRCm39) R295H probably benign Het
Fhdc1 A T 3: 84,381,946 (GRCm39) M1K probably null Het
Gatad1 T C 5: 3,693,540 (GRCm39) R210G probably benign Het
Gm28363 A G 1: 117,654,534 (GRCm39) R58G probably benign Het
Gm8356 A T 14: 17,692,450 (GRCm39) N58K probably damaging Het
Grsf1 A G 5: 88,823,615 (GRCm39) probably null Het
Hephl1 T A 9: 14,965,905 (GRCm39) D1016V possibly damaging Het
Hrob A G 11: 102,148,725 (GRCm39) N379D probably benign Het
Kcnma1 T A 14: 23,423,211 (GRCm39) I831F probably benign Het
Krt78 T C 15: 101,856,977 (GRCm39) R377G probably damaging Het
Lama2 T C 10: 27,220,494 (GRCm39) H457R probably benign Het
Lmnb1 T A 18: 56,841,431 (GRCm39) Y83N probably damaging Het
Loxl4 A G 19: 42,596,115 (GRCm39) C113R probably damaging Het
Lrba A T 3: 86,325,278 (GRCm39) D1912V probably damaging Het
Macf1 T A 4: 123,420,619 (GRCm39) T212S probably benign Het
Map3k4 A T 17: 12,489,918 (GRCm39) C504* probably null Het
Map4k4 T C 1: 40,001,372 (GRCm39) I53T unknown Het
Mtcl2 A G 2: 156,872,706 (GRCm39) probably null Het
Myo5b C T 18: 74,893,970 (GRCm39) Q1700* probably null Het
Npas2 T C 1: 39,377,146 (GRCm39) F503L probably benign Het
Nrg1 A T 8: 32,439,951 (GRCm39) S149T probably benign Het
Or13c7 T A 4: 43,854,958 (GRCm39) F216L probably benign Het
Or2ag15 C T 7: 106,340,824 (GRCm39) V106I probably benign Het
Or4a71 A G 2: 89,358,280 (GRCm39) V158A probably benign Het
Or9r7 T A 10: 129,962,647 (GRCm39) K93M probably damaging Het
Pdia6 T C 12: 17,323,966 (GRCm39) L66S probably damaging Het
Prss35 T C 9: 86,637,478 (GRCm39) S83P probably damaging Het
Psme4 G A 11: 30,754,320 (GRCm39) M192I probably benign Het
Ptprs A C 17: 56,742,994 (GRCm39) S383A probably damaging Het
Resf1 T G 6: 149,230,368 (GRCm39) V1138G probably damaging Het
Sgsh A G 11: 119,243,521 (GRCm39) V67A probably damaging Het
Slc16a4 A G 3: 107,218,794 (GRCm39) Y465C probably damaging Het
Stard9 T C 2: 120,518,582 (GRCm39) I502T probably damaging Het
Sugp2 T A 8: 70,704,292 (GRCm39) Y610N probably damaging Het
Tbc1d24 G A 17: 24,401,795 (GRCm39) P385S possibly damaging Het
Tm4sf1 T C 3: 57,200,319 (GRCm39) I99V probably benign Het
Tpr G T 1: 150,274,359 (GRCm39) V163L probably benign Het
Usp31 T C 7: 121,248,480 (GRCm39) S988G probably damaging Het
Zbtb26 T A 2: 37,327,013 (GRCm39) probably null Het
Zfp536 T C 7: 37,269,035 (GRCm39) N127S probably damaging Het
Zfp750 T A 11: 121,403,843 (GRCm39) D344V possibly damaging Het
Zmym5 T A 14: 57,031,883 (GRCm39) K408N possibly 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
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
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'- AGTTCTTAATTTGTGCTCTGGGAAC -3'

Sequencing Primer
(F):5'- GTCTGATGTCACTCTGACTG -3'
(R):5'- GGAACCAGGTCAATTACTACTTACC -3'
Posted On 2020-01-23