Incidental Mutation 'IGL00581:Scap'
ID 277807
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scap
Ensembl Gene ENSMUSG00000032485
Gene Name SREBF chaperone
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00581
Quality Score
Status
Chromosome 9
Chromosomal Location 110162356-110214017 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110205699 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 369 (V369A)
Ref Sequence ENSEMBL: ENSMUSP00000095953 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098350] [ENSMUST00000197630] [ENSMUST00000198976]
AlphaFold Q6GQT6
Predicted Effect probably damaging
Transcript: ENSMUST00000098350
AA Change: V369A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095953
Gene: ENSMUSG00000032485
AA Change: V369A

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
low complexity region 43 54 N/A INTRINSIC
low complexity region 153 165 N/A INTRINSIC
Pfam:Patched 279 504 4.7e-24 PFAM
Pfam:Sterol-sensing 308 459 7.6e-54 PFAM
transmembrane domain 515 534 N/A INTRINSIC
transmembrane domain 711 733 N/A INTRINSIC
low complexity region 741 751 N/A INTRINSIC
WD40 765 802 1.79e-1 SMART
low complexity region 847 865 N/A INTRINSIC
low complexity region 928 944 N/A INTRINSIC
WD40 953 990 9.86e1 SMART
low complexity region 1050 1060 N/A INTRINSIC
WD40 1062 1102 4.18e-2 SMART
WD40 1105 1143 5.64e-8 SMART
WD40 1147 1183 2.4e-1 SMART
WD40 1186 1223 2.56e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168137
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196424
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196775
Predicted Effect probably benign
Transcript: ENSMUST00000197630
SMART Domains Protein: ENSMUSP00000142919
Gene: ENSMUSG00000032485

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
low complexity region 43 54 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000198976
SMART Domains Protein: ENSMUSP00000143369
Gene: ENSMUSG00000032485

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
low complexity region 43 54 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199886
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a sterol sensing domain (SSD) and seven WD domains. In the presence of cholesterol, this protein binds to sterol regulatory element binding proteins (SREBPs) and mediates their transport from the ER to the Golgi. The SREBPs are then proteolytically cleaved and regulate sterol biosynthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit decreased body size. [provided by MGI curators]
Allele List at MGI

All alleles(23) : Targeted, other(1) Gene trapped(22)
Other mutations in this stock
Total: 9 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb A T 7: 131,039,225 (GRCm39) probably benign Het
Arid4b C T 13: 14,334,780 (GRCm39) R330W probably damaging Het
Depdc1a T A 3: 159,232,189 (GRCm39) C370S probably benign Het
Gan C T 8: 117,920,063 (GRCm39) T353M probably damaging Het
Kif28 A T 1: 179,567,522 (GRCm39) S83T probably benign Het
Rps27l A T 9: 66,854,207 (GRCm39) D34V possibly damaging Het
Rrm2b A G 15: 37,929,319 (GRCm39) V77A probably damaging Het
Tmeff2 A T 1: 51,224,609 (GRCm39) N365I probably damaging Het
Zfp142 T C 1: 74,606,131 (GRCm39) D1612G probably damaging Het
Other mutations in Scap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01012:Scap APN 9 110,191,488 (GRCm39) missense probably damaging 1.00
IGL01487:Scap APN 9 110,206,802 (GRCm39) critical splice donor site probably null
IGL01634:Scap APN 9 110,207,857 (GRCm39) critical splice donor site probably null
IGL01725:Scap APN 9 110,210,622 (GRCm39) unclassified probably benign
IGL01939:Scap APN 9 110,208,549 (GRCm39) missense probably benign 0.02
IGL02106:Scap APN 9 110,210,724 (GRCm39) unclassified probably benign
IGL02423:Scap APN 9 110,207,685 (GRCm39) missense probably benign 0.02
IGL02487:Scap APN 9 110,207,758 (GRCm39) missense probably benign 0.19
IGL02545:Scap APN 9 110,207,758 (GRCm39) missense probably benign 0.19
IGL03226:Scap APN 9 110,213,335 (GRCm39) missense possibly damaging 0.93
IGL03331:Scap APN 9 110,209,304 (GRCm39) splice site probably null
3-1:Scap UTSW 9 110,202,036 (GRCm39) intron probably benign
R0027:Scap UTSW 9 110,208,798 (GRCm39) missense probably benign 0.06
R0089:Scap UTSW 9 110,201,290 (GRCm39) missense possibly damaging 0.81
R0742:Scap UTSW 9 110,210,327 (GRCm39) missense probably damaging 1.00
R1416:Scap UTSW 9 110,213,841 (GRCm39) missense probably damaging 1.00
R1785:Scap UTSW 9 110,203,123 (GRCm39) missense probably damaging 0.97
R1996:Scap UTSW 9 110,202,039 (GRCm39) intron probably benign
R2114:Scap UTSW 9 110,210,341 (GRCm39) missense probably damaging 0.99
R2189:Scap UTSW 9 110,206,761 (GRCm39) missense probably damaging 1.00
R2233:Scap UTSW 9 110,210,661 (GRCm39) missense probably damaging 0.98
R2234:Scap UTSW 9 110,210,661 (GRCm39) missense probably damaging 0.98
R2656:Scap UTSW 9 110,203,087 (GRCm39) missense probably damaging 1.00
R3176:Scap UTSW 9 110,203,093 (GRCm39) missense probably benign
R3237:Scap UTSW 9 110,208,650 (GRCm39) missense probably damaging 0.96
R3276:Scap UTSW 9 110,203,093 (GRCm39) missense probably benign
R3623:Scap UTSW 9 110,209,271 (GRCm39) missense probably damaging 0.99
R3826:Scap UTSW 9 110,210,365 (GRCm39) missense probably benign
R4859:Scap UTSW 9 110,203,410 (GRCm39) unclassified probably benign
R4993:Scap UTSW 9 110,207,458 (GRCm39) missense probably damaging 1.00
R5052:Scap UTSW 9 110,182,220 (GRCm39) missense possibly damaging 0.89
R5330:Scap UTSW 9 110,210,701 (GRCm39) missense probably benign 0.00
R5331:Scap UTSW 9 110,210,701 (GRCm39) missense probably benign 0.00
R5383:Scap UTSW 9 110,203,597 (GRCm39) missense probably damaging 0.99
R5410:Scap UTSW 9 110,203,250 (GRCm39) splice site probably null
R5531:Scap UTSW 9 110,210,497 (GRCm39) missense possibly damaging 0.59
R5567:Scap UTSW 9 110,206,712 (GRCm39) missense probably damaging 1.00
R5636:Scap UTSW 9 110,209,662 (GRCm39) missense probably damaging 0.99
R5637:Scap UTSW 9 110,210,640 (GRCm39) missense possibly damaging 0.94
R5859:Scap UTSW 9 110,203,115 (GRCm39) missense probably benign 0.14
R5923:Scap UTSW 9 110,212,648 (GRCm39) missense probably damaging 0.98
R5945:Scap UTSW 9 110,213,664 (GRCm39) missense probably benign 0.00
R5987:Scap UTSW 9 110,210,219 (GRCm39) missense probably damaging 1.00
R6075:Scap UTSW 9 110,207,845 (GRCm39) missense probably damaging 1.00
R6130:Scap UTSW 9 110,209,447 (GRCm39) missense possibly damaging 0.95
R6190:Scap UTSW 9 110,203,135 (GRCm39) missense probably benign 0.01
R6567:Scap UTSW 9 110,212,630 (GRCm39) missense probably damaging 1.00
R6999:Scap UTSW 9 110,213,715 (GRCm39) missense probably damaging 1.00
R7098:Scap UTSW 9 110,201,310 (GRCm39) missense possibly damaging 0.89
R7386:Scap UTSW 9 110,202,237 (GRCm39) missense probably benign 0.00
R7642:Scap UTSW 9 110,203,081 (GRCm39) missense probably damaging 1.00
R7726:Scap UTSW 9 110,207,435 (GRCm39) splice site probably null
R7898:Scap UTSW 9 110,213,811 (GRCm39) missense possibly damaging 0.74
R8357:Scap UTSW 9 110,210,354 (GRCm39) missense probably benign 0.07
R8457:Scap UTSW 9 110,210,354 (GRCm39) missense probably benign 0.07
R8829:Scap UTSW 9 110,209,271 (GRCm39) missense probably damaging 0.99
R9381:Scap UTSW 9 110,207,839 (GRCm39) missense probably damaging 1.00
R9412:Scap UTSW 9 110,207,673 (GRCm39) missense possibly damaging 0.86
R9783:Scap UTSW 9 110,202,132 (GRCm39) missense probably benign 0.05
X0064:Scap UTSW 9 110,206,713 (GRCm39) missense probably damaging 1.00
Z1088:Scap UTSW 9 110,201,404 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16