Incidental Mutation 'R5828:Soat1'
ID 450242
Institutional Source Beutler Lab
Gene Symbol Soat1
Ensembl Gene ENSMUSG00000026600
Gene Name sterol O-acyltransferase 1
Synonyms hid, ACAT-1, 8430426K15Rik, Acact
Accession Numbers
Essential gene? Probably non essential (E-score: 0.222) question?
Stock # R5828 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 156255678-156301898 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 156265318 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 348 (S348N)
Ref Sequence ENSEMBL: ENSMUSP00000140721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051396] [ENSMUST00000187507] [ENSMUST00000189661]
AlphaFold Q61263
Predicted Effect probably benign
Transcript: ENSMUST00000051396
AA Change: S348N

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000058344
Gene: ENSMUSG00000026600
AA Change: S348N

DomainStartEndE-ValueType
low complexity region 39 52 N/A INTRINSIC
transmembrane domain 130 152 N/A INTRINSIC
Pfam:MBOAT 161 510 3.9e-71 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000187507
SMART Domains Protein: ENSMUSP00000139431
Gene: ENSMUSG00000026600

DomainStartEndE-ValueType
low complexity region 6 19 N/A INTRINSIC
transmembrane domain 97 119 N/A INTRINSIC
transmembrane domain 141 160 N/A INTRINSIC
transmembrane domain 181 203 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187987
Predicted Effect probably benign
Transcript: ENSMUST00000189661
AA Change: S348N

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000140721
Gene: ENSMUSG00000026600
AA Change: S348N

DomainStartEndE-ValueType
low complexity region 39 52 N/A INTRINSIC
transmembrane domain 130 152 N/A INTRINSIC
Pfam:MBOAT 161 510 1.2e-58 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191379
Meta Mutation Damage Score 0.0639 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency 100% (63/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the acyltransferase family. It is located in the endoplasmic reticulum, and catalyzes the formation of fatty acid-cholesterol esters. This gene has been implicated in the formation of beta-amyloid and atherosclerotic plaques by controlling the equilibrium between free cholesterol and cytoplasmic cholesteryl esters. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mutants producing no protein or a truncated protein show depletion of cholesterol esters in adrenal cortex and peritoneal macrophages. Additionally, null mutants have reduced eye openings due to atrophy of meibomian glands or abnromal morphology and arrangement of medullary cells of all hair types. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik A G 2: 68,432,144 (GRCm39) D95G unknown Het
Arl10 T A 13: 54,726,768 (GRCm39) V182E probably damaging Het
Cacna1g T G 11: 94,347,980 (GRCm39) S703R probably damaging Het
Ces2a C A 8: 105,465,956 (GRCm39) T363N probably benign Het
Col14a1 G A 15: 55,300,372 (GRCm39) V967I unknown Het
Col22a1 A T 15: 71,881,340 (GRCm39) F4I probably benign Het
D630045J12Rik A G 6: 38,173,302 (GRCm39) W289R possibly damaging Het
Disc1 A G 8: 125,977,763 (GRCm39) Q793R probably damaging Het
Dnhd1 C T 7: 105,369,388 (GRCm39) T4337I probably benign Het
Eif2b5 T A 16: 20,321,536 (GRCm39) V363D possibly damaging Het
Emsy T C 7: 98,242,699 (GRCm39) T1147A probably benign Het
Epg5 T A 18: 78,064,066 (GRCm39) Y2048N probably damaging Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Foxred1 A G 9: 35,121,492 (GRCm39) probably benign Het
Gpaa1 T C 15: 76,216,471 (GRCm39) probably benign Het
Gria4 A C 9: 4,432,832 (GRCm39) L784V probably damaging Het
Homer3 A G 8: 70,738,956 (GRCm39) Y105C probably benign Het
Hpgd T C 8: 56,772,106 (GRCm39) S193P probably benign Het
Irf1 T A 11: 53,666,762 (GRCm39) W247R probably benign Het
Lpgat1 A G 1: 191,508,494 (GRCm39) Q344R possibly damaging Het
Luzp1 T C 4: 136,267,993 (GRCm39) V72A probably damaging Het
Malrd1 G A 2: 15,531,464 (GRCm39) V8M probably benign Het
Msmo1 T C 8: 65,172,144 (GRCm39) H253R probably damaging Het
Nom1 A G 5: 29,640,124 (GRCm39) K150R possibly damaging Het
Onecut1 A G 9: 74,770,042 (GRCm39) E155G probably benign Het
Or12k7 A G 2: 36,959,001 (GRCm39) H228R probably benign Het
Or14c46 T A 7: 85,918,728 (GRCm39) M90L probably benign Het
Or5p59 T C 7: 107,703,005 (GRCm39) V163A possibly damaging Het
Osbpl10 G A 9: 114,890,944 (GRCm39) V111M probably damaging Het
Pcdhgb6 T C 18: 37,877,457 (GRCm39) S722P probably benign Het
Plin4 T A 17: 56,414,064 (GRCm39) D187V probably damaging Het
Pmf1 T C 3: 88,303,294 (GRCm39) E89G possibly damaging Het
Polr1d A T 5: 147,014,408 (GRCm39) probably benign Het
Ppp1r9a T C 6: 5,158,200 (GRCm39) Y1006H probably damaging Het
Ppp2r5c A G 12: 110,537,134 (GRCm39) K420E probably benign Het
Prdx1 T C 4: 116,551,006 (GRCm39) L159P probably damaging Het
Psmd6 G T 14: 14,119,990 (GRCm38) D39E probably benign Het
Rffl T C 11: 82,709,244 (GRCm39) K60E probably damaging Het
Rspo2 A T 15: 42,939,283 (GRCm39) L169Q probably damaging Het
Sbf1 T A 15: 89,172,837 (GRCm39) D1892V probably damaging Het
Sbno2 G A 10: 79,902,424 (GRCm39) S475F possibly damaging Het
Serpina3i T A 12: 104,231,474 (GRCm39) V37E probably benign Het
Siglecf G A 7: 43,001,137 (GRCm39) C35Y probably damaging Het
Slc22a27 G T 19: 7,903,767 (GRCm39) D123E probably damaging Het
Smim23 T A 11: 32,770,592 (GRCm39) K105* probably null Het
Sp2 C T 11: 96,851,811 (GRCm39) probably benign Het
St14 T A 9: 31,002,803 (GRCm39) H700L probably damaging Het
St3gal1 T A 15: 66,985,634 (GRCm39) K7* probably null Het
Tgm1 T C 14: 55,943,011 (GRCm39) K610E probably benign Het
Tob1 T A 11: 94,104,583 (GRCm39) Y40N probably damaging Het
Tob1 T A 11: 94,104,585 (GRCm39) Y40* probably null Het
Trpc4ap A G 2: 155,477,130 (GRCm39) probably benign Het
Ttc9 C T 12: 81,678,450 (GRCm39) P91L probably benign Het
Zbtb18 T C 1: 177,275,446 (GRCm39) S269P probably damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Zfyve16 A T 13: 92,650,410 (GRCm39) V858E probably damaging Het
Other mutations in Soat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00537:Soat1 APN 1 156,294,300 (GRCm39) missense probably benign 0.37
IGL00840:Soat1 APN 1 156,261,766 (GRCm39) missense probably damaging 1.00
IGL00980:Soat1 APN 1 156,268,911 (GRCm39) missense probably benign 0.00
IGL02032:Soat1 APN 1 156,268,145 (GRCm39) missense probably benign 0.00
IGL02177:Soat1 APN 1 156,268,073 (GRCm39) splice site probably benign
IGL02718:Soat1 APN 1 156,268,999 (GRCm39) missense probably benign 0.02
IGL02756:Soat1 APN 1 156,274,145 (GRCm39) missense probably benign
IGL02884:Soat1 APN 1 156,268,926 (GRCm39) missense possibly damaging 0.88
R0309:Soat1 UTSW 1 156,270,023 (GRCm39) missense probably damaging 1.00
R0315:Soat1 UTSW 1 156,268,083 (GRCm39) nonsense probably null
R0492:Soat1 UTSW 1 156,268,924 (GRCm39) missense probably benign 0.00
R0519:Soat1 UTSW 1 156,268,816 (GRCm39) missense probably damaging 1.00
R1184:Soat1 UTSW 1 156,269,944 (GRCm39) splice site probably null
R1187:Soat1 UTSW 1 156,261,745 (GRCm39) missense probably damaging 1.00
R1310:Soat1 UTSW 1 156,268,902 (GRCm39) missense possibly damaging 0.92
R1378:Soat1 UTSW 1 156,294,352 (GRCm39) utr 5 prime probably benign
R1547:Soat1 UTSW 1 156,267,331 (GRCm39) missense probably damaging 0.98
R1690:Soat1 UTSW 1 156,272,144 (GRCm39) missense probably benign
R1771:Soat1 UTSW 1 156,269,991 (GRCm39) missense probably benign
R1776:Soat1 UTSW 1 156,269,991 (GRCm39) missense probably benign
R2264:Soat1 UTSW 1 156,265,267 (GRCm39) splice site probably benign
R2483:Soat1 UTSW 1 156,258,669 (GRCm39) missense probably damaging 1.00
R4838:Soat1 UTSW 1 156,260,507 (GRCm39) missense probably benign 0.05
R4863:Soat1 UTSW 1 156,259,898 (GRCm39) missense probably damaging 0.98
R5366:Soat1 UTSW 1 156,272,181 (GRCm39) missense probably benign 0.00
R6381:Soat1 UTSW 1 156,263,373 (GRCm39) missense probably damaging 0.99
R6583:Soat1 UTSW 1 156,294,062 (GRCm39) splice site probably null
R7085:Soat1 UTSW 1 156,259,901 (GRCm39) missense probably damaging 0.97
R7228:Soat1 UTSW 1 156,261,808 (GRCm39) missense probably damaging 1.00
R7464:Soat1 UTSW 1 156,266,887 (GRCm39) missense probably damaging 1.00
R7593:Soat1 UTSW 1 156,268,148 (GRCm39) nonsense probably null
R8098:Soat1 UTSW 1 156,274,180 (GRCm39) missense probably damaging 1.00
R8837:Soat1 UTSW 1 156,261,772 (GRCm39) missense probably damaging 1.00
R9300:Soat1 UTSW 1 156,268,923 (GRCm39) missense probably benign 0.00
R9519:Soat1 UTSW 1 156,259,779 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- ATCTCACTTGTGGGGCAGAC -3'
(R):5'- GAAGGATGTAGCCGTCTGTATAC -3'

Sequencing Primer
(F):5'- CTTGTGGGGCAGACTGAGAGAC -3'
(R):5'- AGCCGTCTGTATACTGGGGTTAAATG -3'
Posted On 2016-12-20