Incidental Mutation 'R1310:Soat1'
ID 157895
Institutional Source Beutler Lab
Gene Symbol Soat1
Ensembl Gene ENSMUSG00000026600
Gene Name sterol O-acyltransferase 1
Synonyms hid, ACAT-1, 8430426K15Rik, Acact
MMRRC Submission 039376-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.222) question?
Stock # R1310 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 156255678-156301898 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 156268902 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 183 (L183P)
Ref Sequence ENSEMBL: ENSMUSP00000139431 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051396] [ENSMUST00000187507] [ENSMUST00000189661]
AlphaFold Q61263
Predicted Effect possibly damaging
Transcript: ENSMUST00000051396
AA Change: L216P

PolyPhen 2 Score 0.661 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000058344
Gene: ENSMUSG00000026600
AA Change: L216P

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 possibly damaging
Transcript: ENSMUST00000187507
AA Change: L183P

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000139431
Gene: ENSMUSG00000026600
AA Change: L183P

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 possibly damaging
Transcript: ENSMUST00000189661
AA Change: L216P

PolyPhen 2 Score 0.661 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000140721
Gene: ENSMUSG00000026600
AA Change: L216P

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
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 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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 A G 17: 57,754,936 (GRCm39) H678R probably benign Het
Adgrv1 A G 13: 81,714,496 (GRCm39) V929A probably benign Het
Bcl10 T G 3: 145,636,180 (GRCm39) V26G probably damaging Het
C4b A G 17: 34,948,567 (GRCm39) V1581A probably damaging Het
C87436 A G 6: 86,422,432 (GRCm39) E2G possibly damaging Het
Def6 G A 17: 28,436,593 (GRCm39) V86I probably benign Het
Drd3 A G 16: 43,641,892 (GRCm39) K403E probably damaging Het
Eme1 G A 11: 94,536,368 (GRCm39) R534C probably damaging Het
H2-T24 G T 17: 36,325,888 (GRCm39) Y234* probably null Het
Hoxa13 CCG CCGCG 6: 52,237,618 (GRCm39) probably null Het
Ifit1bl1 A G 19: 34,571,096 (GRCm39) S454P possibly damaging Het
Or4x11 T A 2: 89,868,047 (GRCm39) D261E probably benign Het
Or51a43 C T 7: 103,717,805 (GRCm39) M144I probably benign Het
Pde4c A G 8: 71,202,572 (GRCm39) D592G possibly damaging Het
Scn11a C T 9: 119,584,123 (GRCm39) W1497* probably null Het
Sik3 A G 9: 46,130,724 (GRCm39) E1170G possibly damaging Het
Svep1 T A 4: 58,069,416 (GRCm39) Y2790F possibly damaging Het
Tmeff2 T C 1: 51,220,946 (GRCm39) V307A probably damaging Het
Tmem38a T A 8: 73,333,814 (GRCm39) F98I probably damaging Het
Yod1 C T 1: 130,646,567 (GRCm39) A148V probably benign Het
Zfp850 A C 7: 27,688,884 (GRCm39) S441R probably benign Het
Zfp976 G A 7: 42,262,610 (GRCm39) P409L 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
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'- GCTACACAGGCTAATAGCATTCACACA -3'
(R):5'- GGCCTATGCTTTTGGCAAATTTCCTAC -3'

Sequencing Primer
(F):5'- ggaggcagggacaaatgg -3'
(R):5'- GGCAAATTTCCTACTGTTATTTGGAC -3'
Posted On 2014-02-18