Incidental Mutation 'R5923:Scap'
ID 461683
Institutional Source Beutler Lab
Gene Symbol Scap
Ensembl Gene ENSMUSG00000032485
Gene Name SREBF chaperone
Synonyms
MMRRC Submission 043241-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5923 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 110162356-110214017 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 110212648 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 1027 (D1027Y)
Ref Sequence ENSEMBL: ENSMUSP00000095953 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040021] [ENSMUST00000098350]
AlphaFold Q6GQT6
Predicted Effect probably benign
Transcript: ENSMUST00000040021
SMART Domains Protein: ENSMUSP00000039580
Gene: ENSMUSG00000036057

DomainStartEndE-ValueType
BRO1 8 384 5.94e-159 SMART
Pfam:ALIX_LYPXL_bnd 416 704 1.4e-64 PFAM
low complexity region 715 728 N/A INTRINSIC
low complexity region 774 785 N/A INTRINSIC
low complexity region 849 858 N/A INTRINSIC
low complexity region 905 928 N/A INTRINSIC
internal_repeat_1 929 942 8.2e-5 PROSPERO
internal_repeat_1 943 956 8.2e-5 PROSPERO
low complexity region 977 1018 N/A INTRINSIC
low complexity region 1040 1061 N/A INTRINSIC
low complexity region 1088 1106 N/A INTRINSIC
low complexity region 1128 1160 N/A INTRINSIC
low complexity region 1185 1200 N/A INTRINSIC
low complexity region 1225 1235 N/A INTRINSIC
PTPc 1246 1510 1.28e-92 SMART
low complexity region 1576 1587 N/A INTRINSIC
low complexity region 1589 1643 N/A INTRINSIC
Blast:PTPc 1644 1673 9e-8 BLAST
low complexity region 1675 1689 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000098350
AA Change: D1027Y

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095953
Gene: ENSMUSG00000032485
AA Change: D1027Y

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: ENSMUST00000196424
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200278
Predicted Effect probably benign
Transcript: ENSMUST00000200531
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.3%
  • 20x: 91.6%
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513I03Rik T G 10: 120,614,675 (GRCm39) probably benign Het
Abca9 A G 11: 110,051,378 (GRCm39) V106A probably benign Het
Arnt2 G T 7: 83,911,741 (GRCm39) T577K probably benign Het
Bod1l G A 5: 41,974,762 (GRCm39) T2184I probably damaging Het
Brpf3 G A 17: 29,025,610 (GRCm39) V228I possibly damaging Het
Cacna1d T C 14: 29,833,105 (GRCm39) N890S probably damaging Het
Cacna1s T A 1: 136,004,560 (GRCm39) M120K possibly damaging Het
Cdr2 A G 7: 120,581,224 (GRCm39) Y18H probably damaging Het
Cilp2 A G 8: 70,335,525 (GRCm39) F491S probably damaging Het
Cubn A T 2: 13,490,889 (GRCm39) S185T possibly damaging Het
Dst T C 1: 34,220,840 (GRCm39) S2215P probably benign Het
Echdc3 A G 2: 6,194,383 (GRCm39) V224A possibly damaging Het
Hivep3 G T 4: 119,953,490 (GRCm39) S602I possibly damaging Het
Itga2 T C 13: 115,021,055 (GRCm39) S99G probably benign Het
Kat6a A G 8: 23,429,495 (GRCm39) T1617A probably benign Het
Map1b T C 13: 99,569,661 (GRCm39) E1020G unknown Het
Nbeal1 T C 1: 60,287,554 (GRCm39) F933L probably damaging Het
Ntrk3 A T 7: 78,101,676 (GRCm39) I419N possibly damaging Het
Nup188 A G 2: 30,194,102 (GRCm39) I136V probably benign Het
Or8b38 T A 9: 37,973,154 (GRCm39) D179E probably benign Het
Plcb4 A T 2: 135,803,734 (GRCm39) K536* probably null Het
Polk A T 13: 96,631,923 (GRCm39) I270N probably damaging Het
Prl6a1 A T 13: 27,500,346 (GRCm39) M106L probably benign Het
Spg11 A T 2: 121,923,959 (GRCm39) H787Q probably damaging Het
Tatdn3 T C 1: 190,781,507 (GRCm39) D215G probably damaging Het
Tbcd G A 11: 121,470,978 (GRCm39) C665Y probably benign Het
Tmc8 C T 11: 117,674,638 (GRCm39) R118C probably damaging Het
Ttn T A 2: 76,642,901 (GRCm39) H13245L probably damaging Het
Unc79 T C 12: 103,078,727 (GRCm39) S1631P probably damaging Het
Vmn1r12 G A 6: 57,136,020 (GRCm39) G39D probably benign Het
Vmn2r24 A G 6: 123,792,751 (GRCm39) S693G probably damaging Het
Zc3h3 G T 15: 75,657,413 (GRCm39) R593S probably damaging Het
Zfp598 T C 17: 24,896,523 (GRCm39) L200P probably damaging Het
Other mutations in Scap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00581:Scap APN 9 110,205,699 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ACTCATCAGCGACCACATTATG -3'
(R):5'- CTGCTGCTGTACACAGATGAGG -3'

Sequencing Primer
(F):5'- CATTTACAGCCACTTTGAGGTG -3'
(R):5'- GAAGGAGAACTGCCTCGC -3'
Posted On 2017-02-28