Incidental Mutation 'R4993:Scap'
ID 385026
Institutional Source Beutler Lab
Gene Symbol Scap
Ensembl Gene ENSMUSG00000032485
Gene Name SREBF chaperone
Synonyms
MMRRC Submission 042587-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4993 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 110162356-110214017 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110207458 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 431 (L431P)
Ref Sequence ENSEMBL: ENSMUSP00000095953 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098350]
AlphaFold Q6GQT6
Predicted Effect probably damaging
Transcript: ENSMUST00000098350
AA Change: L431P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095953
Gene: ENSMUSG00000032485
AA Change: L431P

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
9130008F23Rik G T 17: 41,191,052 (GRCm39) Q126K probably benign Het
Abca15 C A 7: 120,000,941 (GRCm39) N1492K probably damaging Het
Afap1l2 C T 19: 56,906,472 (GRCm39) D402N probably damaging Het
Akap11 A G 14: 78,750,408 (GRCm39) F660L probably damaging Het
Bcl3 T C 7: 19,554,102 (GRCm39) T89A probably benign Het
Bub1b T C 2: 118,467,251 (GRCm39) I858T possibly damaging Het
Cdk19 A G 10: 40,352,214 (GRCm39) D288G possibly damaging Het
Cyp2d34 T A 15: 82,502,530 (GRCm39) D202V probably damaging Het
Dip2c T G 13: 9,625,259 (GRCm39) Y584* probably null Het
Dpf3 A T 12: 83,378,635 (GRCm39) probably null Het
Drp2 G A X: 133,342,065 (GRCm39) R567H probably damaging Homo
Emid1 G T 11: 5,081,512 (GRCm39) Q212K probably benign Het
Esm1 C T 13: 113,349,933 (GRCm39) Q118* probably null Het
Fahd2a T G 2: 127,278,284 (GRCm39) I308L probably benign Het
Fanci T C 7: 79,085,126 (GRCm39) *851Q probably null Het
Fastkd1 C A 2: 69,533,084 (GRCm39) V428F probably damaging Het
Fat2 A T 11: 55,173,918 (GRCm39) I2265N probably damaging Het
Gale C A 4: 135,694,171 (GRCm39) H191Q probably damaging Het
Ghsr T A 3: 27,426,403 (GRCm39) V153E possibly damaging Het
Gpc6 A G 14: 117,861,951 (GRCm39) N289S possibly damaging Het
Hoxb6 A T 11: 96,191,537 (GRCm39) Y153F probably damaging Het
Ints3 T C 3: 90,322,814 (GRCm39) T139A probably benign Het
Irf2bp2 A G 8: 127,319,410 (GRCm39) S256P probably benign Het
Klf4 G T 4: 55,530,640 (GRCm39) P148Q probably damaging Het
Loxl1 T G 9: 58,219,820 (GRCm39) H117P probably damaging Het
Lpl A G 8: 69,348,445 (GRCm39) K225E probably benign Het
Lrba T A 3: 86,267,344 (GRCm39) V1678D probably damaging Het
Med1 A T 11: 98,054,730 (GRCm39) F398Y probably damaging Het
Mfap2 T C 4: 140,742,889 (GRCm39) *186Q probably null Het
Mfsd3 T C 15: 76,586,182 (GRCm39) L105P probably damaging Het
Mlxip T G 5: 123,533,357 (GRCm39) I122S probably damaging Het
Mmrn2 A T 14: 34,118,355 (GRCm39) Y107F probably damaging Het
Mtg1 G T 7: 139,720,196 (GRCm39) D88Y probably null Het
Mutyh T A 4: 116,675,132 (GRCm39) S426R probably benign Het
Myo16 C T 8: 10,526,094 (GRCm39) T878I probably damaging Het
Myo9a T A 9: 59,768,755 (GRCm39) Y912* probably null Het
Ncor1 A C 11: 62,234,167 (GRCm39) I669R probably damaging Het
Ndufs1 T C 1: 63,202,935 (GRCm39) I210V probably benign Het
Nek9 A G 12: 85,357,194 (GRCm39) C657R probably damaging Het
Noct C T 3: 51,157,442 (GRCm39) T260I probably damaging Het
Nr1h4 A T 10: 89,334,042 (GRCm39) M102K probably benign Het
Obscn G A 11: 59,015,587 (GRCm39) R1054C possibly damaging Het
Or10ag58 T A 2: 87,265,496 (GRCm39) F222I probably benign Het
Or1j20 C A 2: 36,760,000 (GRCm39) Q141K probably benign Het
Or2a57 A G 6: 43,213,390 (GRCm39) M283V possibly damaging Het
Or51ah3 T A 7: 103,210,524 (GRCm39) I280N possibly damaging Het
Or52z14 A T 7: 103,252,863 (GRCm39) M1L probably benign Het
Or5p75-ps1 G A 7: 108,107,450 (GRCm39) M62I probably damaging Het
Otol1 C A 3: 69,926,211 (GRCm39) Q129K probably benign Het
Otx1 A T 11: 21,948,532 (GRCm39) probably null Het
Pcdhac2 C A 18: 37,279,304 (GRCm39) N761K probably damaging Het
Pde1c A T 6: 56,127,609 (GRCm39) M452K probably damaging Het
Phkg2 T C 7: 127,173,113 (GRCm39) Y24H probably damaging Het
Pigr G A 1: 130,769,554 (GRCm39) D122N probably benign Het
Prg4 C T 1: 150,336,432 (GRCm39) C97Y probably damaging Het
Ptdss1 T C 13: 67,093,352 (GRCm39) V64A probably benign Het
Ralgapa2 T C 2: 146,289,231 (GRCm39) K324E probably damaging Het
Rfx5 G A 3: 94,863,126 (GRCm39) V73I probably benign Het
Riiad1 T C 3: 94,380,170 (GRCm39) T42A probably benign Het
Rims2 T C 15: 39,317,841 (GRCm39) V640A possibly damaging Het
Rnpep G T 1: 135,190,770 (GRCm39) S592Y possibly damaging Het
Siglec1 T A 2: 130,915,281 (GRCm39) I1437F possibly damaging Het
Skic3 T A 13: 76,331,055 (GRCm39) M1495K probably damaging Het
Skint1 T C 4: 111,885,530 (GRCm39) probably null Het
Slc44a1 A G 4: 53,543,644 (GRCm39) E396G probably damaging Het
Slc4a2 T C 5: 24,639,867 (GRCm39) F521S probably damaging Het
Smarcc1 T A 9: 110,004,129 (GRCm39) S394R probably damaging Het
Socs1 A G 16: 10,602,549 (GRCm39) S63P probably benign Het
Spopfm2 C T 3: 94,083,623 (GRCm39) G63R probably damaging Het
Sun1 T G 5: 139,211,088 (GRCm39) S20A possibly damaging Het
Tac4 A T 11: 95,156,068 (GRCm39) K50* probably null Het
Tasor T A 14: 27,151,071 (GRCm39) W16R possibly damaging Het
Tcaf2 A G 6: 42,619,574 (GRCm39) I151T probably damaging Het
Tcf4 T C 18: 69,814,840 (GRCm39) V587A probably damaging Het
Ttn T A 2: 76,571,253 (GRCm39) K24801* probably null Het
Tuba3b G T 6: 145,566,999 (GRCm39) M413I possibly damaging Het
Ufl1 C T 4: 25,267,832 (GRCm39) A280T possibly damaging Het
Ugt2b5 T A 5: 87,287,532 (GRCm39) I212L probably benign Het
Umodl1 A G 17: 31,205,459 (GRCm39) T685A probably benign Het
Uqcrc1 T A 9: 108,773,878 (GRCm39) V183D probably damaging Het
Ush2a A G 1: 188,642,917 (GRCm39) N4093S probably benign Het
Vmn1r167 C T 7: 23,204,653 (GRCm39) S121N probably damaging Het
Vmn1r47 A G 6: 89,999,740 (GRCm39) S291G possibly damaging Het
Vmn2r108 A G 17: 20,701,449 (GRCm39) V17A probably benign Het
Vmn2r58 T A 7: 41,487,176 (GRCm39) H573L probably benign Het
Xirp1 C T 9: 119,847,858 (GRCm39) V342I probably damaging Het
Zfp462 A G 4: 55,051,204 (GRCm39) M2226V possibly damaging Het
Zfp467 G A 6: 48,415,963 (GRCm39) H230Y probably damaging Het
Zfp595 T A 13: 67,464,465 (GRCm39) K599N probably damaging Het
Zfp819 C A 7: 43,266,720 (GRCm39) T401K probably benign 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
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
Predicted Primers PCR Primer
(F):5'- TGTGGAGAAAGGCTCTGTCC -3'
(R):5'- TGTTGAGTGCACAGAGATCAG -3'

Sequencing Primer
(F):5'- AGAAAGGCTCTGTCCTGCTGTC -3'
(R):5'- CAGAGATCAGGCCCCAAGTTG -3'
Posted On 2016-05-10