Incidental Mutation 'IGL02884:Soat1'
ID 362917
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02884
Quality Score
Status
Chromosome 1
Chromosomal Location 156255678-156301898 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 156268926 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 208 (I208N)
Ref Sequence ENSEMBL: ENSMUSP00000140721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051396] [ENSMUST00000187507] [ENSMUST00000189661]
AlphaFold Q61263
Predicted Effect possibly damaging
Transcript: ENSMUST00000051396
AA Change: I208N

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000058344
Gene: ENSMUSG00000026600
AA Change: I208N

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: I175N

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000139431
Gene: ENSMUSG00000026600
AA Change: I175N

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: I208N

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000140721
Gene: ENSMUSG00000026600
AA Change: I208N

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
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik A G 11: 58,178,302 (GRCm39) I121V probably benign Het
Adprh C T 16: 38,266,396 (GRCm39) V249I probably benign Het
Akap11 A T 14: 78,736,402 (GRCm39) M1797K probably benign Het
Akap6 T A 12: 52,933,405 (GRCm39) I299N probably benign Het
Akr1c12 A T 13: 4,322,211 (GRCm39) M277K possibly damaging Het
Ankrd17 A T 5: 90,412,616 (GRCm39) M1236K probably damaging Het
Arhgef11 A G 3: 87,635,313 (GRCm39) D874G probably damaging Het
Atg4b T C 1: 93,715,437 (GRCm39) probably benign Het
Bcl9 G A 3: 97,117,368 (GRCm39) P442L probably damaging Het
Ccdc107 A T 4: 43,495,228 (GRCm39) K98* probably null Het
Cenpl A G 1: 160,913,619 (GRCm39) Q343R probably benign Het
Cep104 T C 4: 154,074,319 (GRCm39) C524R probably damaging Het
Clec3b C T 9: 122,985,827 (GRCm39) T75I probably benign Het
Col13a1 A T 10: 61,741,064 (GRCm39) probably benign Het
Crot C T 5: 9,028,197 (GRCm39) probably null Het
Ddo G A 10: 40,513,360 (GRCm39) V101I probably benign Het
Disp2 T C 2: 118,618,032 (GRCm39) probably benign Het
Dnmt3b A C 2: 153,516,297 (GRCm39) Y474S probably damaging Het
Dpp6 T A 5: 27,839,554 (GRCm39) N298K possibly damaging Het
Fbf1 C T 11: 116,037,339 (GRCm39) E940K probably damaging Het
Fgd6 A G 10: 93,881,501 (GRCm39) probably benign Het
H2-M10.2 T C 17: 36,595,568 (GRCm39) R241G probably damaging Het
Haghl A T 17: 26,002,072 (GRCm39) F207Y possibly damaging Het
Helt G A 8: 46,745,620 (GRCm39) R88C probably damaging Het
Igf2bp2 T C 16: 21,981,635 (GRCm39) K27E probably benign Het
Il1b T C 2: 129,207,022 (GRCm39) H246R probably benign Het
Itprid1 T C 6: 55,851,339 (GRCm39) probably null Het
Kcnu1 C T 8: 26,411,556 (GRCm39) S167L probably damaging Het
Kif16b A T 2: 142,544,534 (GRCm39) probably benign Het
Myh7 A T 14: 55,230,276 (GRCm39) S19T probably benign Het
Ncaph2 T C 15: 89,248,447 (GRCm39) probably null Het
Nlrp4c T C 7: 6,101,951 (GRCm39) L879P probably damaging Het
Nqo2 T A 13: 34,156,344 (GRCm39) N19K probably damaging Het
Or2r2 C T 6: 42,463,540 (GRCm39) V196M probably damaging Het
Osbpl1a C A 18: 12,952,635 (GRCm39) G93* probably null Het
Pdxdc1 A G 16: 13,661,659 (GRCm39) F459L possibly damaging Het
Phc2 A T 4: 128,601,809 (GRCm39) H88L probably damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Ptchd4 A T 17: 42,813,340 (GRCm39) T414S possibly damaging Het
Rab7b A G 1: 131,626,280 (GRCm39) R103G probably damaging Het
Retnla A G 16: 48,662,943 (GRCm39) Y3C probably benign Het
Samd7 G A 3: 30,810,322 (GRCm39) R113H probably damaging Het
Shisa9 G A 16: 11,814,907 (GRCm39) probably benign Het
Stab1 C A 14: 30,872,100 (GRCm39) probably null Het
Tti2 C T 8: 31,641,505 (GRCm39) L210F possibly damaging Het
Ube2v2 A G 16: 15,374,349 (GRCm39) V77A probably benign Het
Ubr5 T C 15: 37,998,620 (GRCm39) E1617G probably damaging Het
Vmn2r16 T A 5: 109,508,757 (GRCm39) I495K possibly damaging Het
Vwce G T 19: 10,623,943 (GRCm39) R278L possibly damaging Het
Wdr26 C T 1: 181,010,349 (GRCm39) A551T probably damaging Het
Wee1 A G 7: 109,725,269 (GRCm39) I304V probably benign Het
Xrcc5 C T 1: 72,385,396 (GRCm39) H496Y possibly damaging Het
Zfp142 G T 1: 74,611,142 (GRCm39) S884R 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
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
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
Posted On 2015-12-18