Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03331:Scap'

416882

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 #

IGL03331

Quality Score

Status

Chromosome

Chromosomal Location

110162356-110214017 bp(+) (GRCm39)

Type of Mutation

splice site (4846 bp from exon)

DNA Base Change (assembly)

T to C at 110209304 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000039580 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040021] [ENSMUST00000098350]

AlphaFold

Q6GQT6

PDB Structure

MONA SH3C IN COMPLEX [X-RAY DIFFRACTION]

Predicted Effect

probably null
Transcript: ENSMUST00000040021

SMART Domains

Protein: ENSMUSP00000039580
Gene: ENSMUSG00000036057

Domain	Start	End	E-Value	Type
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: L659P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095953
Gene: ENSMUSG00000032485
AA Change: L659P

Domain	Start	End	E-Value	Type
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

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	C	A	14: 78,751,305 (GRCm39)	D361Y	probably damaging	Het
Arhgap10	T	C	8: 78,146,711 (GRCm39)	N231S	probably damaging	Het
Asb15	A	T	6: 24,556,523 (GRCm39)	D6V	possibly damaging	Het
C1qb	G	A	4: 136,607,604 (GRCm39)	A253V	probably damaging	Het
Ccdc178	G	T	18: 21,944,640 (GRCm39)		probably null	Het
Chst15	A	G	7: 131,864,442 (GRCm39)	L387P	probably damaging	Het
Clca3b	T	A	3: 144,533,724 (GRCm39)	E550D	probably benign	Het
Dnah5	A	G	15: 28,420,086 (GRCm39)	K3795E	probably damaging	Het
Dppa2	T	C	16: 48,134,242 (GRCm39)		probably benign	Het
Epb41l5	T	C	1: 119,545,149 (GRCm39)	Y220C	probably damaging	Het
Fkbpl	C	T	17: 34,864,661 (GRCm39)	T143I	probably damaging	Het
Gbe1	T	G	16: 70,230,466 (GRCm39)	Y155D	probably damaging	Het
Gm1979	T	C	5: 26,207,008 (GRCm39)	K69R	probably damaging	Het
Gna14	G	A	19: 16,586,832 (GRCm39)	V336M	probably damaging	Het
Gpr37	A	G	6: 25,669,728 (GRCm39)	V372A	probably benign	Het
H2bc12	T	C	13: 22,220,443 (GRCm39)		probably benign	Het
Herc2	C	A	7: 55,785,015 (GRCm39)		probably benign	Het
Krt20	T	C	11: 99,326,256 (GRCm39)		probably null	Het
Lman1	T	C	18: 66,126,275 (GRCm39)	T284A	probably benign	Het
Matn2	A	T	15: 34,345,503 (GRCm39)	D170V	probably damaging	Het
Morc1	C	A	16: 48,432,731 (GRCm39)		probably benign	Het
Necap1	T	A	6: 122,857,376 (GRCm39)	S34T	probably benign	Het
Nt5c3b	T	C	11: 100,327,041 (GRCm39)	Y85C	probably damaging	Het
Or2t6	C	A	14: 14,176,017 (GRCm38)	A22S	probably benign	Het
Or5b102	T	A	19: 13,041,231 (GRCm39)	L152H	probably damaging	Het
Papln	A	G	12: 83,830,435 (GRCm39)	M1016V	probably benign	Het
Pld1	T	C	3: 28,139,994 (GRCm39)	F605L	probably damaging	Het
Rbms2	T	A	10: 127,969,504 (GRCm39)		probably benign	Het
Rps6kb1	A	T	11: 86,423,656 (GRCm39)	V108E	probably damaging	Het
Serpina1f	T	C	12: 103,657,150 (GRCm39)	I307M	probably benign	Het
Tchh	A	G	3: 93,350,725 (GRCm39)	D55G	probably damaging	Het
Tnfaip3	G	T	10: 18,887,349 (GRCm39)	Q59K	possibly damaging	Het
Vcan	A	G	13: 89,810,051 (GRCm39)	C2287R	probably damaging	Het
Vmn2r6	T	C	3: 64,445,428 (GRCm39)	N766D	probably damaging	Het

Other mutations in Scap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

2016-08-02