Mutagenetix > Incidental Mutation

Incidental Mutation 'R4859:Scap'

372332

Institutional Source

Beutler Lab

Gene Symbol

Scap

Ensembl Gene

ENSMUSG00000032485

Gene Name

SREBF chaperone

Synonyms

MMRRC Submission

042470-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4859 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110162356-110214017 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 110203410 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143369 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098350] [ENSMUST00000197630] [ENSMUST00000198976]

AlphaFold

Q6GQT6

Predicted Effect

probably benign
Transcript: ENSMUST00000098350

SMART Domains

Protein: ENSMUSP00000095953
Gene: ENSMUSG00000032485

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

Predicted Effect

probably benign
Transcript: ENSMUST00000197630

SMART Domains

Protein: ENSMUSP00000142919
Gene: ENSMUSG00000032485

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
low complexity region	43	54	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000198976

SMART Domains

Protein: ENSMUSP00000143369
Gene: ENSMUSG00000032485

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
low complexity region	43	54	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199886

Coding Region Coverage

1x: 98.9%
3x: 98.1%
10x: 95.5%
20x: 89.5%

Validation Efficiency

100% (112/112)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	T	A	8: 41,207,580 (GRCm39)	V282E	probably benign	Het
Adam26b	T	C	8: 43,973,296 (GRCm39)	T569A	possibly damaging	Het
Adam6a	A	G	12: 113,509,609 (GRCm39)	N661D	probably damaging	Het
Adck1	G	A	12: 88,407,865 (GRCm39)	A199T	probably benign	Het
Adhfe1	A	G	1: 9,628,438 (GRCm39)	Y270C	probably damaging	Het
Aldh16a1	C	T	7: 44,796,731 (GRCm39)	R256H	probably benign	Het
Ap5z1	T	C	5: 142,459,748 (GRCm39)	M466T	possibly damaging	Het
Aspm	C	T	1: 139,397,131 (GRCm39)	L908F	probably damaging	Het
Atp8b2	T	A	3: 89,853,287 (GRCm39)	T743S	probably benign	Het
Bag2	G	T	1: 33,786,022 (GRCm39)	T100K	probably damaging	Het
Camk2a	A	G	18: 61,076,246 (GRCm39)		probably benign	Het
Ccdc158	A	G	5: 92,781,262 (GRCm39)	Y848H	probably damaging	Het
Ccp110	T	G	7: 118,324,653 (GRCm39)	V725G	possibly damaging	Het
Cdh6	A	G	15: 13,051,418 (GRCm39)	V405A	probably benign	Het
Ces2g	T	C	8: 105,694,094 (GRCm39)		probably null	Het
Cfap157	A	G	2: 32,667,554 (GRCm39)	F510L	probably benign	Het
Chd3	A	T	11: 69,250,722 (GRCm39)	M669K	possibly damaging	Het
Cnot10	C	T	9: 114,456,532 (GRCm39)	A168T	probably damaging	Het
Crybg1	A	G	10: 43,868,565 (GRCm39)	V1371A	probably damaging	Het
Dars2	A	G	1: 160,872,560 (GRCm39)	L547P	probably damaging	Het
Dis3	A	G	14: 99,325,226 (GRCm39)	C483R	probably damaging	Het
Dnah7b	T	A	1: 46,395,762 (GRCm39)	L3888Q	probably damaging	Het
Dpysl2	A	T	14: 67,066,888 (GRCm39)	Y182N	probably damaging	Het
Eif4g1	T	A	16: 20,500,923 (GRCm39)	F509L	probably benign	Het
Evc	T	C	5: 37,458,253 (GRCm39)	T85A	probably damaging	Het
Farsb	T	C	1: 78,444,609 (GRCm39)	T283A	probably benign	Het
Fem1al	G	T	11: 29,775,178 (GRCm39)	A93E	probably damaging	Het
Fgf14	C	A	14: 124,429,845 (GRCm39)	R30L	possibly damaging	Het
Gbe1	T	C	16: 70,275,289 (GRCm39)	L363P	probably damaging	Het
Gcg	A	G	2: 62,307,189 (GRCm39)	V124A	probably damaging	Het
Glb1l	A	G	1: 75,176,963 (GRCm39)		probably benign	Het
Gm5431	T	C	11: 48,780,409 (GRCm39)	E449G	probably damaging	Het
Gon4l	T	C	3: 88,802,655 (GRCm39)	S1089P	probably benign	Het
Hgd	T	C	16: 37,409,111 (GRCm39)	L25P	probably damaging	Het
Hnf1a	T	C	5: 115,093,311 (GRCm39)	H318R	possibly damaging	Het
Hsd17b7	A	C	1: 169,794,826 (GRCm39)	V71G	possibly damaging	Het
Hydin	T	C	8: 111,233,126 (GRCm39)	S1742P	possibly damaging	Het
Insyn2b	A	G	11: 34,353,154 (GRCm39)	S399G	probably benign	Het
Kank2	T	C	9: 21,691,078 (GRCm39)	E552G	probably benign	Het
Kcnq4	C	A	4: 120,573,810 (GRCm39)	R217L	probably damaging	Het
Klrg2	T	C	6: 38,604,540 (GRCm39)	*201W	probably null	Het
Kndc1	T	C	7: 139,501,821 (GRCm39)	S953P	probably benign	Het
Lama2	TTTGCGCATT	TTT	10: 26,919,639 (GRCm39)		probably null	Het
Lonp1	A	G	17: 56,933,587 (GRCm39)	V96A	probably benign	Het
Mgat4e	T	C	1: 134,469,478 (GRCm39)	K189E	possibly damaging	Het
Msantd5f8	A	G	4: 73,805,457 (GRCm39)	S351P	probably damaging	Het
Msh2	G	A	17: 88,026,187 (GRCm39)	V722I	possibly damaging	Het
Mtcl3	A	C	10: 29,026,390 (GRCm39)	M491L	probably benign	Het
N4bp2	T	C	5: 65,982,641 (GRCm39)	Y1632H	probably damaging	Het
Nlrc4	T	G	17: 74,743,032 (GRCm39)	K862T	probably damaging	Het
Notch4	A	T	17: 34,806,154 (GRCm39)	Q1750L	probably damaging	Het
Obscn	C	T	11: 58,972,849 (GRCm39)	V2066I	possibly damaging	Het
Or2v2	T	C	11: 49,003,993 (GRCm39)	K187E	probably damaging	Het
Or4c15	T	A	2: 88,760,627 (GRCm39)	I11L	probably benign	Het
Or4f14b	A	T	2: 111,775,156 (GRCm39)	I215N	probably damaging	Het
Or52d13	A	T	7: 103,110,243 (GRCm39)	Y57*	probably null	Het
Or5m8	T	C	2: 85,823,075 (GRCm39)	S305P	probably damaging	Het
Pde7a	T	A	3: 19,295,655 (GRCm39)		probably benign	Het
Pign	A	T	1: 105,575,892 (GRCm39)	Y249*	probably null	Het
Ppp1r17	A	T	6: 56,003,449 (GRCm39)	E87D	probably damaging	Het
Prss3	T	A	6: 41,350,857 (GRCm39)	Q211L	probably damaging	Het
Rapgef6	A	G	11: 54,526,989 (GRCm39)	E413G	probably benign	Het
Rnf150	A	G	8: 83,590,712 (GRCm39)	H25R	probably damaging	Het
Scamp2	T	C	9: 57,488,934 (GRCm39)		probably null	Het
Sdc2	A	C	15: 33,032,602 (GRCm39)	K175N	probably damaging	Het
Serpinb6d	T	A	13: 33,851,547 (GRCm39)		probably null	Het
Sh3tc2	A	G	18: 62,146,164 (GRCm39)	N1181S	probably benign	Het
Slc44a2	T	C	9: 21,259,441 (GRCm39)	I46T	probably damaging	Het
Slfn8	A	G	11: 82,908,540 (GRCm39)	M1T	probably null	Het
Slitrk6	T	C	14: 110,989,315 (GRCm39)	T131A	probably damaging	Het
Spata1	C	G	3: 146,175,529 (GRCm39)	D326H	probably damaging	Het
Tbck	T	G	3: 132,507,288 (GRCm39)	S753R	probably benign	Het
Tdp1	A	G	12: 99,876,070 (GRCm39)	I340M	probably benign	Het
Tmprss6	T	A	15: 78,330,877 (GRCm39)	Y50F	probably damaging	Het
Trank1	T	A	9: 111,194,078 (GRCm39)	S701T	probably benign	Het
Trbv17	A	T	6: 41,140,223 (GRCm39)	N26I	probably benign	Het
Trip12	A	T	1: 84,771,531 (GRCm39)	S248T	probably damaging	Het
Vmn2r53	T	G	7: 12,335,330 (GRCm39)	Q110P	probably damaging	Het
Vmn2r75	A	G	7: 85,797,611 (GRCm39)	V734A	probably benign	Het
Wfdc11	A	T	2: 164,507,415 (GRCm39)	M14K	probably null	Het
Xcr1	T	A	9: 123,685,712 (GRCm39)	M17L	probably benign	Het
Zbtb40	A	G	4: 136,716,070 (GRCm39)	I965T	probably damaging	Het
Zfp760	A	T	17: 21,942,511 (GRCm39)	H562L	probably damaging	Het
Zfp760	A	T	17: 21,942,516 (GRCm39)	R564*	probably null	Het
Znf41-ps	T	A	4: 145,555,283 (GRCm39)		noncoding transcript	Het
Zyg11a	A	T	4: 108,067,387 (GRCm39)	I41N	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
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
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'- CGTGACCACCTACATCATCCTG -3'
(R):5'- GACTTGACCATGTCGATCTTGC -3'

Sequencing Primer
(F):5'- TTCTCCACACGTAGGTCGCAAG -3'
(R):5'- GACCATGTCGATCTTGCCTAAAG -3'

Posted On

2016-03-01