Mutagenetix > Incidental Mutations

Incidental Mutation 'R1416:Scap'

159594

Institutional Source

Beutler Lab

Gene Symbol

Scap

Ensembl Gene

ENSMUSG00000032485

Gene Name

SREBF chaperone

Synonyms

MMRRC Submission

039472-MU

Accession Numbers

Genbank: NM_001001144; MGI: 2135958

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1416 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110333288-110384950 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110384773 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1268 (V1268A)

Ref Sequence

ENSEMBL: ENSMUSP00000095953 (fasta)

Gene Model

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

Predicted Effect

probably benign
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: V1268A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095953
Gene: ENSMUSG00000032485
AA Change: V1268A

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: ENSMUST00000199254

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200278

Predicted Effect

probably benign
Transcript: ENSMUST00000200531

Meta Mutation Damage Score

0.3246

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.1%

Validation Efficiency

94% (63/67)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	C	T	15: 8,246,938	Q2689*	probably null	Het
4932429P05Rik	A	T	X: 89,753,677	M372L	probably benign	Het
Acad11	T	C	9: 104,073,623	S49P	probably damaging	Het
Afm	T	C	5: 90,526,379	I250T	possibly damaging	Het
Alox5	G	A	6: 116,423,145	Q278*	probably null	Het
Anxa7	G	A	14: 20,462,707	R253C	probably damaging	Het
Arfgef1	T	A	1: 10,172,939	T1059S	probably damaging	Het
Arpp21	T	C	9: 112,179,129	E101G	probably damaging	Het
Bcr	A	T	10: 75,061,506	I161F	possibly damaging	Het
Ccdc141	T	C	2: 77,014,796	E1309G	probably damaging	Het
Ccdc39	T	C	3: 33,826,480	K446R	probably damaging	Het
Cep41	C	T	6: 30,657,357	S233N	probably damaging	Het
Col5a1	T	G	2: 27,922,064	S53A	unknown	Het
Efnb2	A	G	8: 8,622,329		probably null	Het
Epb41l5	T	C	1: 119,549,876		probably benign	Het
Eri2	A	G	7: 119,791,174	F77S	probably damaging	Het
Ern1	C	T	11: 106,421,980		probably benign	Het
Eya3	T	C	4: 132,707,129		probably benign	Het
Fam122b	T	C	X: 53,246,146	*256W	probably null	Het
Gm14685	G	T	X: 73,127,655	G218C	probably damaging	Het
Icos	T	C	1: 60,994,643	L144P	probably damaging	Het
Ipo8	A	G	6: 148,789,093	V717A	probably benign	Het
Lrp12	T	C	15: 39,878,623	E232G	probably damaging	Het
Lrp1b	A	G	2: 40,998,216	I2344T	probably damaging	Het
Mettl5	A	T	2: 69,871,289	F207I	possibly damaging	Het
Mtor	G	T	4: 148,491,414	E1342*	probably null	Het
Nrap	A	G	19: 56,327,293	Y1360H	possibly damaging	Het
Nsun7	T	C	5: 66,261,080	V51A	probably damaging	Het
Olfr1065	T	C	2: 86,445,320	I221V	probably benign	Het
Olfr1160	T	A	2: 88,006,571	Y60F	probably damaging	Het
Olfr1537	G	C	9: 39,238,251	P58A	probably benign	Het
Olfr235	C	A	19: 12,268,894	F221L	probably benign	Het
Olfr467	T	C	7: 107,815,262	L228P	probably damaging	Het
Otud6b	A	C	4: 14,818,473	L143V	probably damaging	Het
Pp2d1	T	C	17: 53,515,807	N77S	probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Raly	G	T	2: 154,857,353	G26*	probably null	Het
Rarb	T	C	14: 16,435,177	M290V	possibly damaging	Het
Rusc2	A	G	4: 43,421,617	E679G	possibly damaging	Het
Setd1b	C	T	5: 123,160,685		probably benign	Het
Shisa3	C	G	5: 67,611,434	P226A	probably benign	Het
Smox	C	T	2: 131,522,131	S481F	probably damaging	Het
Stard9	T	C	2: 120,700,972	V2570A	probably benign	Het
Sucla2	C	T	14: 73,560,634		probably benign	Het
Sult4a1	C	T	15: 84,086,646	R186Q	probably benign	Het
Taf2	G	T	15: 55,038,410	A796E	possibly damaging	Het
Taf4b	T	C	18: 14,821,427		probably benign	Het
Thbs4	G	T	13: 92,761,533	Q593K	probably benign	Het
Tigd3	T	C	19: 5,891,725	D459G	probably benign	Het
Tmem168	A	T	6: 13,591,401	L472Q	probably damaging	Het
Tmem169	G	T	1: 72,300,716	V102F	probably damaging	Het
Tmem241	T	C	18: 11,993,574	T274A	probably benign	Het
Trip10	A	G	17: 57,250,800	Y28C	probably damaging	Het
Ubp1	T	C	9: 113,970,171	V398A	probably benign	Het
Ubr3	A	G	2: 69,945,071	Y567C	probably damaging	Het
Uckl1	A	T	2: 181,569,569	M489K	possibly damaging	Het
Ush2a	C	T	1: 188,436,883	P1074S	probably damaging	Het
Vmn1r62	T	C	7: 5,675,905	V195A	probably damaging	Het
Vmn2r63	T	A	7: 42,927,915	I400L	probably benign	Het
Vmn2r67	T	A	7: 85,151,616	I371F	probably benign	Het
Wdr64	A	G	1: 175,806,002	T940A	probably benign	Het
Zfp105	A	T	9: 122,930,677	Y471F	probably damaging	Het
Zfp287	A	T	11: 62,714,340	H580Q	probably damaging	Het

Other mutations in Scap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00581:Scap	APN	9	110376631	missense	probably damaging	1.00
IGL01012:Scap	APN	9	110362420	missense	probably damaging	1.00
IGL01487:Scap	APN	9	110377734	critical splice donor site	probably null
IGL01634:Scap	APN	9	110378789	critical splice donor site	probably null
IGL01725:Scap	APN	9	110381554	unclassified	probably benign
IGL01939:Scap	APN	9	110379481	missense	probably benign	0.02
IGL02106:Scap	APN	9	110381656	unclassified	probably benign
IGL02423:Scap	APN	9	110378617	missense	probably benign	0.02
IGL02487:Scap	APN	9	110378690	missense	probably benign	0.19
IGL02545:Scap	APN	9	110378690	missense	probably benign	0.19
IGL03226:Scap	APN	9	110384267	missense	possibly damaging	0.93
IGL03331:Scap	APN	9	110380236	unclassified	probably null
3-1:Scap	UTSW	9	110372968	intron	probably benign
R0027:Scap	UTSW	9	110379730	missense	probably benign	0.06
R0089:Scap	UTSW	9	110372222	missense	possibly damaging	0.81
R0742:Scap	UTSW	9	110381259	missense	probably damaging	1.00
R1785:Scap	UTSW	9	110374055	missense	probably damaging	0.97
R1996:Scap	UTSW	9	110372971	intron	probably benign
R2114:Scap	UTSW	9	110381273	missense	probably damaging	0.99
R2189:Scap	UTSW	9	110377693	missense	probably damaging	1.00
R2233:Scap	UTSW	9	110381593	missense	probably damaging	0.98
R2234:Scap	UTSW	9	110381593	missense	probably damaging	0.98
R2656:Scap	UTSW	9	110374019	missense	probably damaging	1.00
R3176:Scap	UTSW	9	110374025	missense	probably benign
R3237:Scap	UTSW	9	110379582	missense	probably damaging	0.96
R3276:Scap	UTSW	9	110374025	missense	probably benign
R3623:Scap	UTSW	9	110380203	missense	probably damaging	0.99
R3826:Scap	UTSW	9	110381297	missense	probably benign
R4859:Scap	UTSW	9	110374342	unclassified	probably benign
R4993:Scap	UTSW	9	110378390	missense	probably damaging	1.00
R5052:Scap	UTSW	9	110353152	missense	possibly damaging	0.89
R5330:Scap	UTSW	9	110381633	missense	probably benign	0.00
R5331:Scap	UTSW	9	110381633	missense	probably benign	0.00
R5383:Scap	UTSW	9	110374529	missense	probably damaging	0.99
R5410:Scap	UTSW	9	110374182	unclassified	probably null
R5531:Scap	UTSW	9	110381429	missense	possibly damaging	0.59
R5567:Scap	UTSW	9	110377644	missense	probably damaging	1.00
R5636:Scap	UTSW	9	110380594	missense	probably damaging	0.99
R5637:Scap	UTSW	9	110381572	missense	possibly damaging	0.94
R5859:Scap	UTSW	9	110374047	missense	probably benign	0.14
R5923:Scap	UTSW	9	110383580	missense	probably damaging	0.98
R5945:Scap	UTSW	9	110384596	missense	probably benign	0.00
R5987:Scap	UTSW	9	110381151	missense	probably damaging	1.00
R6075:Scap	UTSW	9	110378777	missense	probably damaging	1.00
R6130:Scap	UTSW	9	110380379	missense	possibly damaging	0.95
R6190:Scap	UTSW	9	110374067	missense	probably benign	0.01
R6567:Scap	UTSW	9	110383562	missense	probably damaging	1.00
R6999:Scap	UTSW	9	110384647	missense	probably damaging	1.00
R7098:Scap	UTSW	9	110372242	missense	possibly damaging	0.89
R7386:Scap	UTSW	9	110373169	missense	probably benign	0.00
R7642:Scap	UTSW	9	110374013	missense	probably damaging	1.00
X0064:Scap	UTSW	9	110377645	missense	probably damaging	1.00
Z1088:Scap	UTSW	9	110372336	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCAACATTGAAGACCTCTTCTGCC -3'
(R):5'- TGGAATGACAAGAACTTCAGCCCC -3'

Sequencing Primer
(F):5'- AGCTTGGGTGTCATCTCAGATAAC -3'
(R):5'- TCAGCCCCTGGTAAATGTG -3'

Posted On

2014-03-14