Incidental Mutation 'IGL00537:Soat1'
ID14182
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Soat1
Ensembl Gene ENSMUSG00000026600
Gene Namesterol O-acyltransferase 1
SynonymsACAT-1, 8430426K15Rik, Acact, hid
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.104) question?
Stock #IGL00537
Quality Score
Status
Chromosome1
Chromosomal Location156424525-156474331 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 156466730 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 13 (N13K)
Ref Sequence ENSEMBL: ENSMUSP00000140721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051396] [ENSMUST00000187507] [ENSMUST00000188027] [ENSMUST00000189661]
Predicted Effect probably benign
Transcript: ENSMUST00000051396
AA Change: N13K

PolyPhen 2 Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000058344
Gene: ENSMUSG00000026600
AA Change: N13K

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 noncoding transcript
Transcript: ENSMUST00000187073
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 probably benign
Transcript: ENSMUST00000188027
Predicted Effect probably benign
Transcript: ENSMUST00000189661
AA Change: N13K

PolyPhen 2 Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000140721
Gene: ENSMUSG00000026600
AA Change: N13K

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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcap29 C A 12: 31,617,096 E189* probably null Het
Chd5 T C 4: 152,360,602 Y347H probably damaging Het
Cyp2c55 T A 19: 39,011,706 N116K possibly damaging Het
Dnah5 T C 15: 28,458,702 probably null Het
Erlec1 C A 11: 30,939,591 V185L probably benign Het
Glb1l3 T A 9: 26,829,050 Y328F probably damaging Het
Gnao1 G A 8: 93,811,680 V50M probably damaging Het
Mcpt4 T C 14: 56,061,030 T83A probably benign Het
Mefv T C 16: 3,710,960 Y539C probably benign Het
Pkhd1l1 A T 15: 44,591,992 I4050F possibly damaging Het
Pkhd1l1 C T 15: 44,500,047 T621M probably benign Het
Ptprq A G 10: 107,710,522 S304P probably benign Het
Rptor C T 11: 119,799,445 P372L possibly damaging Het
Sspo G A 6: 48,498,213 probably benign Het
Vps13a T A 19: 16,680,045 T1787S probably benign Het
Wfdc12 A T 2: 164,190,467 L18Q probably null Het
Zfp955b T C 17: 33,302,873 F439L probably damaging Het
Zmym4 G A 4: 126,890,058 S1125L probably benign Het
Other mutations in Soat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00840:Soat1 APN 1 156434196 missense probably damaging 1.00
IGL00980:Soat1 APN 1 156441341 missense probably benign 0.00
IGL02032:Soat1 APN 1 156440575 missense probably benign 0.00
IGL02177:Soat1 APN 1 156440503 splice site probably benign
IGL02718:Soat1 APN 1 156441429 missense probably benign 0.02
IGL02756:Soat1 APN 1 156446575 missense probably benign
IGL02884:Soat1 APN 1 156441356 missense possibly damaging 0.88
R0309:Soat1 UTSW 1 156442453 missense probably damaging 1.00
R0315:Soat1 UTSW 1 156440513 nonsense probably null
R0492:Soat1 UTSW 1 156441354 missense probably benign 0.00
R0519:Soat1 UTSW 1 156441246 missense probably damaging 1.00
R1184:Soat1 UTSW 1 156442374 splice site probably null
R1187:Soat1 UTSW 1 156434175 missense probably damaging 1.00
R1310:Soat1 UTSW 1 156441332 missense possibly damaging 0.92
R1378:Soat1 UTSW 1 156466782 utr 5 prime probably benign
R1547:Soat1 UTSW 1 156439761 missense probably damaging 0.98
R1690:Soat1 UTSW 1 156444574 missense probably benign
R1771:Soat1 UTSW 1 156442421 missense probably benign
R1776:Soat1 UTSW 1 156442421 missense probably benign
R2264:Soat1 UTSW 1 156437697 splice site probably benign
R2483:Soat1 UTSW 1 156431099 missense probably damaging 1.00
R4838:Soat1 UTSW 1 156432937 missense probably benign 0.05
R4863:Soat1 UTSW 1 156432328 missense probably damaging 0.98
R5366:Soat1 UTSW 1 156444611 missense probably benign 0.00
R5828:Soat1 UTSW 1 156437748 missense probably benign 0.01
R6381:Soat1 UTSW 1 156435803 missense probably damaging 0.99
R6583:Soat1 UTSW 1 156466492 intron probably null
R7085:Soat1 UTSW 1 156432331 missense not run
Posted On2012-12-06