Incidental Mutation 'R0519:Soat1'
ID 48363
Institutional Source Beutler Lab
Gene Symbol Soat1
Ensembl Gene ENSMUSG00000026600
Gene Name sterol O-acyltransferase 1
Synonyms hid, ACAT-1, 8430426K15Rik, Acact
MMRRC Submission 038712-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.222) question?
Stock # R0519 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 156255678-156301898 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 156268816 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 245 (I245F)
Ref Sequence ENSEMBL: ENSMUSP00000140721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051396] [ENSMUST00000187507] [ENSMUST00000189661]
AlphaFold Q61263
Predicted Effect probably damaging
Transcript: ENSMUST00000051396
AA Change: I245F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058344
Gene: ENSMUSG00000026600
AA Change: I245F

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 damaging
Transcript: ENSMUST00000187507
AA Change: I212F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139431
Gene: ENSMUSG00000026600
AA Change: I212F

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 probably damaging
Transcript: ENSMUST00000189661
AA Change: I245F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140721
Gene: ENSMUSG00000026600
AA Change: I245F

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 0.6423 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 96.6%
  • 20x: 93.2%
Validation Efficiency 99% (74/75)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik A G 5: 107,696,067 (GRCm39) R168G probably benign Het
2810004N23Rik C T 8: 125,566,668 (GRCm39) G251R possibly damaging Het
3425401B19Rik A G 14: 32,384,919 (GRCm39) S349P possibly damaging Het
Ackr4 A G 9: 103,976,650 (GRCm39) V99A probably benign Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Asxl3 A G 18: 22,656,577 (GRCm39) Q1529R possibly damaging Het
Atg12 T C 18: 46,874,477 (GRCm39) E46G probably benign Het
Cdcp2 A G 4: 106,964,389 (GRCm39) probably benign Het
Clasrp A G 7: 19,318,089 (GRCm39) probably benign Het
Clip2 A G 5: 134,545,005 (GRCm39) V383A probably benign Het
Cntln C T 4: 84,923,290 (GRCm39) probably benign Het
Colgalt2 G T 1: 152,384,312 (GRCm39) A551S possibly damaging Het
Csmd2 A C 4: 128,380,798 (GRCm39) Y2118S possibly damaging Het
Dip2c T A 13: 9,613,244 (GRCm39) V415E probably damaging Het
Dpy19l2 C T 9: 24,469,391 (GRCm39) R755Q probably benign Het
Dsn1 A T 2: 156,840,633 (GRCm39) probably benign Het
Dtd2 T C 12: 52,051,742 (GRCm39) probably benign Het
Dync1i1 A G 6: 6,027,399 (GRCm39) T602A probably benign Het
Ercc6 A C 14: 32,248,799 (GRCm39) D450A probably damaging Het
Fgf12 A T 16: 28,008,380 (GRCm39) V104D probably benign Het
Frem1 A T 4: 82,888,870 (GRCm39) probably null Het
Gcgr G T 11: 120,426,982 (GRCm39) W88L probably damaging Het
Glb1 ACCC ACC 9: 114,250,812 (GRCm39) probably null Het
Hapln1 A G 13: 89,732,835 (GRCm39) probably benign Het
Hmgn3 T C 9: 82,994,301 (GRCm39) E40G probably damaging Het
Hsdl1 G A 8: 120,292,450 (GRCm39) A255V probably damaging Het
Hyls1 T C 9: 35,472,499 (GRCm39) K306E probably damaging Het
Jcad C T 18: 4,649,122 (GRCm39) probably benign Het
Kif14 C A 1: 136,396,885 (GRCm39) A397E probably damaging Het
Lcmt2 A T 2: 120,969,825 (GRCm39) probably null Het
Lifr T C 15: 7,207,061 (GRCm39) L524P probably damaging Het
Ly6g6f T C 17: 35,301,828 (GRCm39) K209E possibly damaging Het
Macf1 G A 4: 123,365,113 (GRCm39) T1651I probably benign Het
Mapk4 T C 18: 74,103,392 (GRCm39) D39G probably damaging Het
Mbl1 A G 14: 40,880,522 (GRCm39) M137V probably damaging Het
Mcm10 G A 2: 5,013,356 (GRCm39) S92L probably benign Het
Mug1 A G 6: 121,828,383 (GRCm39) K265R possibly damaging Het
Mxra7 A G 11: 116,701,612 (GRCm39) probably null Het
Neu3 G A 7: 99,472,524 (GRCm39) probably benign Het
Nsd1 A G 13: 55,460,648 (GRCm39) T2395A probably benign Het
Or1j1 T A 2: 36,702,627 (GRCm39) H159L probably damaging Het
Or5m9 A T 2: 85,877,411 (GRCm39) Y195F probably benign Het
Or6s1 T A 14: 51,308,614 (GRCm39) I79F probably damaging Het
Or7g34 A T 9: 19,478,245 (GRCm39) I145N probably benign Het
Osgepl1 T C 1: 53,360,255 (GRCm39) V327A probably damaging Het
Pcdhb21 T C 18: 37,649,085 (GRCm39) V738A possibly damaging Het
Plekha8 A T 6: 54,599,092 (GRCm39) probably benign Het
Ptprq A C 10: 107,374,781 (GRCm39) probably benign Het
Pus10 T A 11: 23,661,201 (GRCm39) F263Y probably benign Het
Rad54b A T 4: 11,599,809 (GRCm39) I338F probably damaging Het
Rad54l2 A G 9: 106,585,498 (GRCm39) F756L probably damaging Het
Scn11a A G 9: 119,619,185 (GRCm39) L719P probably damaging Het
Slc2a2 G A 3: 28,772,965 (GRCm39) V253I possibly damaging Het
Slc39a4 A T 15: 76,499,338 (GRCm39) N192K probably benign Het
Sorcs2 G A 5: 36,188,534 (GRCm39) A858V probably benign Het
Tcim T C 8: 24,928,651 (GRCm39) T88A possibly damaging Het
Tecta G A 9: 42,259,188 (GRCm39) probably benign Het
Tgm5 C A 2: 120,879,376 (GRCm39) L553F probably damaging Het
Tjp1 A G 7: 64,952,669 (GRCm39) V1555A probably benign Het
Tmem214 A C 5: 31,027,012 (GRCm39) M1L probably null Het
Togaram1 T C 12: 65,012,776 (GRCm39) probably benign Het
Topaz1 C A 9: 122,578,544 (GRCm39) L485I possibly damaging Het
Ttn T C 2: 76,548,626 (GRCm39) probably benign Het
Ube2o A G 11: 116,437,285 (GRCm39) probably null Het
Ubr7 T A 12: 102,734,465 (GRCm39) D246E probably benign Het
Vcpkmt T C 12: 69,629,102 (GRCm39) D132G probably benign Het
Vmn2r111 T A 17: 22,792,102 (GRCm39) Q51H probably benign Het
Vmn2r95 C T 17: 18,659,765 (GRCm39) P170S probably damaging Het
Zbtb38 A G 9: 96,567,826 (GRCm39) I1086T probably damaging Het
Zfp444 G A 7: 6,191,172 (GRCm39) A118T probably benign Het
Zp2 A G 7: 119,737,372 (GRCm39) I272T 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
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
R5828:Soat1 UTSW 1 156,265,318 (GRCm39) missense probably benign 0.01
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'- CCAGAGCTACACAGGCTAATAGCATTC -3'
(R):5'- ATTTCCTGTTCCAGCGATGGGC -3'

Sequencing Primer
(F):5'- ggaggcagggacaaatgg -3'
(R):5'- GCCCACGGTTACAGCAAG -3'
Posted On 2013-06-12