Mutagenetix > Incidental Mutation

Incidental Mutation 'R5987:Scap'

481743

Institutional Source

Beutler Lab

Gene Symbol

Scap

Ensembl Gene

ENSMUSG00000032485

Gene Name

SREBF chaperone

Synonyms

MMRRC Submission

044167-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5987 (G1)

Quality Score

177.009

Status

Not validated

Chromosome

Chromosomal Location

110162356-110214017 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110210219 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 876 (I876N)

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

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: I876N

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

SMART Domains

Protein: ENSMUSP00000095953
Gene: ENSMUSG00000032485
AA Change: I876N

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: ENSMUST00000196424

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196775

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200278

Predicted Effect

probably benign
Transcript: ENSMUST00000200531

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 91.2%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	C	1: 71,297,257 (GRCm39)	L2411R	probably damaging	Het
Als2	A	G	1: 59,245,746 (GRCm39)	W577R	probably damaging	Het
Aox1	C	A	1: 58,346,518 (GRCm39)	R551S	probably benign	Het
Areg	A	T	5: 91,294,577 (GRCm39)	H245L	possibly damaging	Het
Arhgap35	T	C	7: 16,297,392 (GRCm39)	T558A	possibly damaging	Het
Arhgef28	A	T	13: 98,073,368 (GRCm39)	C1322*	probably null	Het
Arhgef38	T	C	3: 132,912,719 (GRCm39)	R107G	possibly damaging	Het
Atf7ip	T	A	6: 136,548,500 (GRCm39)	F695L	probably damaging	Het
AW209491	C	T	13: 14,812,365 (GRCm39)	A406V	probably benign	Het
Bche	T	G	3: 73,556,011 (GRCm39)	Q549P	possibly damaging	Het
Blnk	A	G	19: 40,917,733 (GRCm39)	F417L	possibly damaging	Het
Bloc1s1	T	G	10: 128,759,255 (GRCm39)	K17T	probably damaging	Het
C330018D20Rik	G	T	18: 57,090,968 (GRCm39)	T65K	probably damaging	Het
Ccdc168	A	T	1: 44,096,417 (GRCm39)	N1560K	probably benign	Het
Cers1	T	A	8: 70,774,228 (GRCm39)	S162T	possibly damaging	Het
Cgn	T	C	3: 94,686,832 (GRCm39)	K157E	probably benign	Het
Cldn7	G	A	11: 69,858,494 (GRCm39)	R196Q	probably benign	Het
Clrn2	C	A	5: 45,611,369 (GRCm39)	Q73K	probably benign	Het
Cmss1	A	G	16: 57,122,608 (GRCm39)	V262A	probably benign	Het
Cpb2	T	A	14: 75,498,128 (GRCm39)	V97E	probably damaging	Het
Ctnnd2	G	A	15: 30,683,387 (GRCm39)	V463I	probably benign	Het
Cyp7a1	A	T	4: 6,268,476 (GRCm39)	S416R	probably benign	Het
Dip2b	C	T	15: 100,087,960 (GRCm39)	R965C	probably damaging	Het
Dkk3	T	C	7: 111,749,865 (GRCm39)	T102A	probably benign	Het
Dmap1	C	A	4: 117,538,039 (GRCm39)		probably null	Het
Dnah12	C	A	14: 26,608,828 (GRCm39)	D3872E	possibly damaging	Het
Dnah7b	A	G	1: 46,158,558 (GRCm39)		probably null	Het
Dnai1	C	T	4: 41,632,391 (GRCm39)	T575I	probably benign	Het
Dsg1a	T	A	18: 20,464,599 (GRCm39)	Y365N	probably damaging	Het
Dusp11	T	A	6: 85,936,215 (GRCm39)	K18*	probably null	Het
E2f2	A	T	4: 135,900,245 (GRCm39)	T52S	probably benign	Het
Elavl4	A	G	4: 110,147,841 (GRCm39)	L13S	probably benign	Het
Epor	T	C	9: 21,873,572 (GRCm39)	D59G	possibly damaging	Het
Eral1	A	G	11: 77,971,059 (GRCm39)	C43R	possibly damaging	Het
Fam135b	A	G	15: 71,362,697 (GRCm39)	V228A	probably benign	Het
Gba1	T	C	3: 89,113,129 (GRCm39)	S187P	probably damaging	Het
Gcc2	G	T	10: 58,091,669 (GRCm39)		probably benign	Het
Gdap2	C	A	3: 100,109,572 (GRCm39)		probably benign	Het
Gm10271	A	T	10: 116,808,497 (GRCm39)	F6L	probably damaging	Het
Gm10801	C	CGTG	2: 98,494,152 (GRCm39)		probably null	Het
Gpr160	T	C	3: 30,950,612 (GRCm39)	L228P	probably benign	Het
Gsdmc2	A	C	15: 63,702,715 (GRCm39)	V184G	probably benign	Het
Gtf2e2	A	T	8: 34,266,080 (GRCm39)	K252M	probably damaging	Het
Gtf2e2	G	T	8: 34,266,081 (GRCm39)	K252N	probably benign	Het
Gys1	T	C	7: 45,087,529 (GRCm39)	Y102H	probably benign	Het
H4c2	A	G	13: 23,941,209 (GRCm39)	D69G	probably damaging	Het
Ifit3b	A	C	19: 34,589,598 (GRCm39)	D258A	probably damaging	Het
Itpr3	T	A	17: 27,323,575 (GRCm39)	M1200K	probably damaging	Het
Kcng4	A	T	8: 120,353,098 (GRCm39)	F271I	probably damaging	Het
Klhdc2	C	T	12: 69,350,387 (GRCm39)	S144L	possibly damaging	Het
Lhcgr	A	G	17: 89,063,006 (GRCm39)	F222S	probably damaging	Het
Lrp5	C	G	19: 3,678,299 (GRCm39)	G519R	probably damaging	Het
Magel2	T	C	7: 62,028,515 (GRCm39)	V473A	probably benign	Het
Map1a	T	C	2: 121,134,776 (GRCm39)	V1864A	possibly damaging	Het
Mast4	T	A	13: 102,895,242 (GRCm39)	Q760H	probably damaging	Het
Mertk	A	G	2: 128,613,294 (GRCm39)	N437D	probably benign	Het
Mettl18	G	A	1: 163,824,344 (GRCm39)	V222I	probably benign	Het
Mical2	C	T	7: 111,934,155 (GRCm39)	T782M	probably benign	Het
Mocos	T	A	18: 24,819,750 (GRCm39)	V664E	probably damaging	Het
Neb	G	T	2: 52,185,306 (GRCm39)	N975K	probably benign	Het
Nectin3	A	T	16: 46,284,508 (GRCm39)	S59T	probably benign	Het
Nelfb	A	T	2: 25,093,900 (GRCm39)	M11K	probably damaging	Het
Nrp1	A	G	8: 129,202,650 (GRCm39)	N545S	probably damaging	Het
Or10ak11	T	C	4: 118,687,478 (GRCm39)	D53G	probably damaging	Het
Or2g1	T	A	17: 38,107,248 (GRCm39)	N304K	probably benign	Het
Or51b4	T	A	7: 103,530,907 (GRCm39)	D181V	probably damaging	Het
Or5b117	A	T	19: 13,431,324 (GRCm39)	S186T	possibly damaging	Het
Or5p67	T	A	7: 107,922,254 (GRCm39)	T210S	probably benign	Het
Or6c70	A	T	10: 129,710,390 (GRCm39)	F79I	probably damaging	Het
Or8g53	T	C	9: 39,683,836 (GRCm39)	T87A	probably benign	Het
P3h1	A	G	4: 119,103,862 (GRCm39)	H587R	probably damaging	Het
Paqr4	A	G	17: 23,958,832 (GRCm39)		probably null	Het
Pde12	A	G	14: 26,390,253 (GRCm39)	V152A	probably benign	Het
Ppip5k1	C	A	2: 121,180,972 (GRCm39)	E45*	probably null	Het
Ptch2	C	T	4: 116,967,254 (GRCm39)	A677V	probably benign	Het
Rgs12	A	G	5: 35,177,689 (GRCm39)	N93S	probably damaging	Het
Rif1	C	G	2: 51,985,856 (GRCm39)	L614V	probably damaging	Het
Rnf32	T	C	5: 29,408,145 (GRCm39)	S125P	probably damaging	Het
Robo4	A	G	9: 37,322,696 (GRCm39)	I850V	probably damaging	Het
Sin3a	A	G	9: 57,034,484 (GRCm39)	D1219G	possibly damaging	Het
Skint5	T	C	4: 113,743,005 (GRCm39)	E354G	unknown	Het
Spart	A	G	3: 55,033,962 (GRCm39)	D396G	probably benign	Het
Spindoc	G	A	19: 7,351,024 (GRCm39)	S311L	probably benign	Het
Spta1	G	T	1: 174,050,894 (GRCm39)	R1791L	probably damaging	Het
Tbck	T	C	3: 132,507,278 (GRCm39)	I750T	possibly damaging	Het
Tmem191	T	C	16: 17,094,334 (GRCm39)		probably null	Het
Trgv1	A	T	13: 19,524,474 (GRCm39)	Y66F	probably benign	Het
Vmn2r125	A	G	4: 156,702,292 (GRCm39)	Y26C	probably damaging	Het
Zbtb17	T	C	4: 141,192,128 (GRCm39)	C358R	possibly damaging	Het
Zfp180	G	A	7: 23,804,859 (GRCm39)	G426E	probably damaging	Het
Zfp445	A	G	9: 122,682,951 (GRCm39)	V330A	probably benign	Het
Zfp595	A	G	13: 67,465,688 (GRCm39)	C192R	probably damaging	Het
Zkscan4	A	G	13: 21,668,623 (GRCm39)	H387R	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
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
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'- TCAGACTTGTGTGGTCCTTGAC -3'
(R):5'- TAAGCTCCAGATGGAACCGG -3'

Sequencing Primer
(F):5'- GGAGCTTTTGAGACTCAG -3'
(R):5'- AGCCCTTCTCAGGTGCAGTC -3'

Posted On

2017-06-26