Incidental Mutation 'R8004:Sar1a'
ID616526
Institutional Source Beutler Lab
Gene Symbol Sar1a
Ensembl Gene ENSMUSG00000020088
Gene Namesecretion associated Ras related GTPase 1A
Synonyms1600019H17Rik, Sara1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.292) question?
Stock #R8004 (G1)
Quality Score225.009
Status Validated
Chromosome10
Chromosomal Location61680299-61693297 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 61685166 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 53 (H53Q)
Ref Sequence ENSEMBL: ENSMUSP00000020285 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020285] [ENSMUST00000218474] [ENSMUST00000219055] [ENSMUST00000219506] [ENSMUST00000220372]
Predicted Effect probably benign
Transcript: ENSMUST00000020285
AA Change: H53Q

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000020285
Gene: ENSMUSG00000020088
AA Change: H53Q

DomainStartEndE-ValueType
SAR 9 197 7.79e-99 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000218474
AA Change: H53Q

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000218741
AA Change: H29Q

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000219055
Predicted Effect probably benign
Transcript: ENSMUST00000219506
AA Change: H53Q

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000220372
AA Change: H53Q

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (61/61)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik T A 1: 11,951,062 probably benign Het
Abcb11 T A 2: 69,257,210 K1070N possibly damaging Het
Ankrd24 T A 10: 81,638,357 N179K unknown Het
Atp6v0a4 A T 6: 38,050,549 F775L possibly damaging Het
Bbs2 A G 8: 94,082,490 V269A possibly damaging Het
Bpifc T G 10: 85,979,284 S273R probably benign Het
Cdan1 C T 2: 120,731,443 R20Q unknown Het
Chrm2 T A 6: 36,523,286 I26N probably damaging Het
Cngb3 A G 4: 19,505,273 K669E possibly damaging Het
Cnot1 T C 8: 95,752,752 I876V probably benign Het
Col12a1 T A 9: 79,684,401 T926S probably damaging Het
Cyp2b23 G T 7: 26,679,466 T191K probably benign Het
Dpp4 A G 2: 62,358,828 V453A probably benign Het
Eif2ak4 T C 2: 118,417,294 S271P possibly damaging Het
Fam69a T C 5: 107,909,666 D342G probably damaging Het
Fbxw20 G T 9: 109,221,381 P392H probably damaging Het
Fcho2 T A 13: 98,789,505 E118V possibly damaging Het
Gm2042 C G 12: 87,960,151 Q413E possibly damaging Het
Gm904 G A 13: 50,645,307 probably null Het
H2-D1 A G 17: 35,266,696 S352G probably benign Het
Igf2bp3 C A 6: 49,091,020 V451L probably benign Het
Igkv1-99 T C 6: 68,542,128 V23A Het
Igsf10 A G 3: 59,329,709 I1017T probably benign Het
Il18r1 G A 1: 40,474,757 C41Y probably damaging Het
Itgb4 A G 11: 115,982,705 D249G probably benign Het
Ldlrad1 G A 4: 107,209,491 A8T probably benign Het
Lrrn2 T A 1: 132,937,751 F185I probably damaging Het
Mllt6 G T 11: 97,676,140 E635D possibly damaging Het
Msh6 A G 17: 87,986,787 E990G probably damaging Het
Myo1h A T 5: 114,320,708 D184V Het
Nfatc2ip A G 7: 126,390,405 V269A possibly damaging Het
Nfkb1 C A 3: 135,591,551 probably benign Het
Nol12 A T 15: 78,940,517 K181N probably damaging Het
Npl T A 1: 153,503,540 T266S probably benign Het
Olfr195 T A 16: 59,148,988 V46E probably damaging Het
Olfr863-ps1 A T 9: 19,942,112 D109E possibly damaging Het
Oog2 A T 4: 144,194,251 I85L probably benign Het
Parm1 A C 5: 91,594,273 S167R probably benign Het
Pcsk4 T C 10: 80,322,840 D526G probably damaging Het
Plscr4 C T 9: 92,490,790 R322* probably null Het
Psmd9 T C 5: 123,241,935 probably null Het
Ralgapa1 A G 12: 55,702,457 V1220A probably damaging Het
Rbm25 A T 12: 83,674,392 E577D possibly damaging Het
Rbm44 T A 1: 91,152,158 probably benign Het
S100a6 T C 3: 90,613,812 F16L probably benign Het
Setd2 G A 9: 110,592,545 A282T Het
Slc35f5 A T 1: 125,589,887 H474L probably damaging Het
Slc4a3 T C 1: 75,549,067 probably null Het
Smc1b G A 15: 85,097,614 S735F probably damaging Het
Sp3 A T 2: 72,970,208 I531K possibly damaging Het
St6galnac5 A T 3: 152,840,165 M252K probably damaging Het
Tas2r120 T A 6: 132,657,427 H157Q possibly damaging Het
Tbc1d10b T A 7: 127,199,011 S653C probably damaging Het
Tex10 T C 4: 48,452,047 E693G possibly damaging Het
Thada A G 17: 84,192,205 S1855P probably benign Het
Tjp2 G A 19: 24,114,120 P559L probably damaging Het
Tmem184b A G 15: 79,362,766 S368P probably damaging Het
Tnc G A 4: 63,984,657 S1461L probably benign Het
Tnpo2 T C 8: 85,044,699 F177S probably benign Het
Vmn1r58 A T 7: 5,410,507 Y241* probably null Het
Wdr66 T C 5: 123,254,450 W216R unknown Het
Other mutations in Sar1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01715:Sar1a APN 10 61685627 splice site probably benign
IGL01756:Sar1a APN 10 61686456 missense probably benign
IGL02070:Sar1a APN 10 61684894 utr 5 prime probably benign
IGL03355:Sar1a APN 10 61684939 missense possibly damaging 0.76
R1033:Sar1a UTSW 10 61685616 missense probably damaging 1.00
R1964:Sar1a UTSW 10 61685168 missense probably benign 0.01
R3956:Sar1a UTSW 10 61686393 missense possibly damaging 0.80
R5086:Sar1a UTSW 10 61691346 missense probably damaging 1.00
R5758:Sar1a UTSW 10 61685072 missense probably benign 0.27
R7505:Sar1a UTSW 10 61691294 missense probably benign
Predicted Primers PCR Primer
(F):5'- AGTGTGCTCCAGTTCCTAGG -3'
(R):5'- TCAGAAAGTCCCAGGGATGC -3'

Sequencing Primer
(F):5'- GTGCTCCAGTTCCTAGGTAAAGC -3'
(R):5'- TCCCAGGGATGCAGAGTAG -3'
Posted On2020-01-23