Incidental Mutation 'R2234:Scap'
ID 239934
Institutional Source Beutler Lab
Gene Symbol Scap
Ensembl Gene ENSMUSG00000032485
Gene Name SREBF chaperone
Synonyms
MMRRC Submission 040235-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2234 (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 110210661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 998 (C998R)
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: C998R

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095953
Gene: ENSMUSG00000032485
AA Change: C998R

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: ENSMUST00000196775
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200278
Predicted Effect probably benign
Transcript: ENSMUST00000200531
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd6 A G 1: 155,434,454 (GRCm39) D24G probably damaging Het
Adarb1 A G 10: 77,153,183 (GRCm39) V322A probably damaging Het
Akap8l C T 17: 32,557,777 (GRCm39) G37R probably damaging Het
BC035947 A T 1: 78,474,599 (GRCm39) D644E probably damaging Het
Capzb T A 4: 138,989,334 (GRCm39) D85E possibly damaging Het
Cd81 T A 7: 142,620,056 (GRCm39) N71K probably benign Het
Cemip G T 7: 83,647,770 (GRCm39) D103E probably benign Het
Chfr A G 5: 110,318,729 (GRCm39) K580E probably damaging Het
Chrnb1 A T 11: 69,686,428 (GRCm39) I64N probably damaging Het
Clca3a1 G T 3: 144,714,829 (GRCm39) P596Q possibly damaging Het
Cpb1 A T 3: 20,329,629 (GRCm39) D32E probably benign Het
Crh A T 3: 19,748,096 (GRCm39) M182K probably damaging Het
Csta1 C T 16: 35,945,445 (GRCm39) V23I probably damaging Het
Dazap1 A G 10: 80,113,433 (GRCm39) K110E possibly damaging Het
Dhx16 T C 17: 36,198,778 (GRCm39) C737R probably damaging Het
Dync1i2 C T 2: 71,079,764 (GRCm39) Q419* probably null Het
Eml5 A C 12: 98,807,840 (GRCm39) D984E probably damaging Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Gm12695 C T 4: 96,612,266 (GRCm39) R499Q probably damaging Het
Hid1 A G 11: 115,241,945 (GRCm39) I555T probably damaging Het
Hspa2 A G 12: 76,451,419 (GRCm39) T38A possibly damaging Het
Igf1r T A 7: 67,861,828 (GRCm39) N1129K probably damaging Het
Iglon5 T C 7: 43,130,062 (GRCm39) E34G probably damaging Het
Itprid1 A T 6: 55,874,797 (GRCm39) H249L possibly damaging Het
Kalrn C A 16: 33,996,632 (GRCm39) probably null Het
Kmt2d T C 15: 98,763,129 (GRCm39) D240G probably damaging Het
Lrrc56 T A 7: 140,778,207 (GRCm39) D66E probably damaging Het
Myot A G 18: 44,487,339 (GRCm39) D392G probably damaging Het
Nphp3 G A 9: 103,914,575 (GRCm39) R1052H probably benign Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or2d4 C A 7: 106,543,827 (GRCm39) C127F probably damaging Het
Or4c114 A G 2: 88,904,592 (GRCm39) L281P probably damaging Het
Or6z5 T C 7: 6,477,441 (GRCm39) S111P possibly damaging Het
Or7g19 A T 9: 18,856,112 (GRCm39) H56L probably damaging Het
Or8k39 A G 2: 86,563,921 (GRCm39) F12L possibly damaging Het
Pax8 A G 2: 24,333,114 (GRCm39) I77T probably damaging Het
Paxbp1 T C 16: 90,831,822 (GRCm39) I355M probably benign Het
Pds5a A T 5: 65,811,441 (GRCm39) F331I probably damaging Het
Plec A T 15: 76,061,147 (GRCm39) I2952N probably damaging Het
Ppp1r12a A G 10: 108,034,780 (GRCm39) I108M possibly damaging Het
Rabepk A T 2: 34,685,246 (GRCm39) I58N possibly damaging Het
Rnf216 G A 5: 143,076,681 (GRCm39) H68Y probably benign Het
Scgb1b27 T C 7: 33,721,249 (GRCm39) Y46H probably damaging Het
Sf3a2 G T 10: 80,638,663 (GRCm39) A95S probably benign Het
Smg7 A T 1: 152,744,064 (GRCm39) Y40N probably damaging Het
Ssc5d A G 7: 4,946,849 (GRCm39) T1068A probably benign Het
Stambp A G 6: 83,528,960 (GRCm39) S362P probably damaging Het
Tbx18 G T 9: 87,606,403 (GRCm39) S247R probably damaging Het
Tenm3 T C 8: 48,729,204 (GRCm39) I1601V probably benign Het
Thap4 G T 1: 93,652,934 (GRCm39) Q441K probably benign Het
Tmprss11c G T 5: 86,429,945 (GRCm39) T40K probably benign Het
Tnk1 C T 11: 69,746,017 (GRCm39) probably null Het
Trim65 G T 11: 116,021,503 (GRCm39) T110K possibly damaging Het
Uck1 T C 2: 32,148,315 (GRCm39) D167G probably damaging Het
Vmn2r124 A T 17: 18,269,927 (GRCm39) H61L possibly damaging Het
Xpnpep1 T G 19: 53,001,892 (GRCm39) D118A probably damaging Het
Xylt2 C T 11: 94,560,822 (GRCm39) V239M possibly 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
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
Predicted Primers PCR Primer
(F):5'- CGGTTCCATCTGGAGCTTAG -3'
(R):5'- ACTCTGCGTTAGCCTATGC -3'

Sequencing Primer
(F):5'- GCTTAGAGCTGCAAGGCAATCTC -3'
(R):5'- TGCGTTAGCCTATGCCTGGC -3'
Posted On 2014-10-15