Mutagenetix > Incidental Mutation

Incidental Mutation 'R6190:Scap'

502481

Institutional Source

Beutler Lab

Gene Symbol

Scap

Ensembl Gene

ENSMUSG00000032485

Gene Name

SREBF chaperone

Synonyms

MMRRC Submission

044330-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6190 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110162356-110214017 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110203135 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 270 (N270D)

Ref Sequence

ENSEMBL: ENSMUSP00000095953 (fasta)

Gene Model

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

AlphaFold

Q6GQT6

Predicted Effect

probably benign
Transcript: ENSMUST00000098350
AA Change: N270D

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000095953
Gene: ENSMUSG00000032485
AA Change: N270D

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	T	A	16: 8,423,472 (GRCm39)	L224Q	probably damaging	Het
Abcc5	A	G	16: 20,211,529 (GRCm39)	M478T	probably benign	Het
Acot10	T	C	15: 20,665,871 (GRCm39)	D290G	possibly damaging	Het
Actr3b	A	G	5: 26,036,688 (GRCm39)	Q167R	probably benign	Het
Actr8	C	T	14: 29,713,674 (GRCm39)	R565*	probably null	Het
Adcy7	C	T	8: 89,052,358 (GRCm39)		probably null	Het
Adgrb3	C	T	1: 25,459,728 (GRCm39)	V576I	probably benign	Het
Adgrv1	T	A	13: 81,607,882 (GRCm39)		probably null	Het
Adgrv1	A	T	13: 81,672,898 (GRCm39)		probably null	Het
Ak2	A	G	4: 128,892,976 (GRCm39)	D45G	probably damaging	Het
Ak9	C	G	10: 41,298,403 (GRCm39)	Q1489E	unknown	Het
Ak9	A	T	10: 41,298,404 (GRCm39)	Q1489L	unknown	Het
Akap12	C	A	10: 4,306,268 (GRCm39)	S1026Y	possibly damaging	Het
Ankhd1	T	G	18: 36,744,862 (GRCm39)	S601A	possibly damaging	Het
Apba2	A	T	7: 64,389,628 (GRCm39)	E508V	probably damaging	Het
Arhgap18	A	G	10: 26,722,031 (GRCm39)	M1V	probably null	Het
Arhgef10l	G	A	4: 140,270,073 (GRCm39)	T865M	possibly damaging	Het
Bdh1	T	A	16: 31,268,715 (GRCm39)	V150D	probably damaging	Het
Becn1	A	G	11: 101,186,200 (GRCm39)	C135R	probably damaging	Het
C2cd4d	A	G	3: 94,271,226 (GRCm39)	D164G	probably benign	Het
Cacna1e	C	A	1: 154,362,316 (GRCm39)	V424F	possibly damaging	Het
Capn7	C	A	14: 31,085,560 (GRCm39)	T511K	probably benign	Het
Cdc5l	G	A	17: 45,718,943 (GRCm39)	P558S	probably benign	Het
Cep170	T	A	1: 176,609,975 (GRCm39)	H112L	probably damaging	Het
Cfap61	C	T	2: 145,789,053 (GRCm39)	T19M	probably benign	Het
Clca3a1	A	G	3: 144,463,821 (GRCm39)	V152A	probably benign	Het
Cnot10	G	T	9: 114,461,791 (GRCm39)	T24K	probably damaging	Het
Cntnap5b	T	A	1: 100,306,800 (GRCm39)	I839N	possibly damaging	Het
Cyp4f13	A	T	17: 33,148,847 (GRCm39)	D299E	probably damaging	Het
Dclk1	A	G	3: 55,395,232 (GRCm39)	E128G	probably damaging	Het
Dennd1b	T	C	1: 139,061,413 (GRCm39)	I365T	probably damaging	Het
Dgcr8	T	C	16: 18,102,274 (GRCm39)	T3A	probably damaging	Het
Dld	A	C	12: 31,394,847 (GRCm39)	I58S	probably damaging	Het
Dlg5	T	A	14: 24,240,506 (GRCm39)	R248S	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Faf1	C	T	4: 109,719,012 (GRCm39)	L373F	probably damaging	Het
Fam171b	C	T	2: 83,707,042 (GRCm39)	T304I	probably benign	Het
Fcgrt	A	T	7: 44,751,622 (GRCm39)		probably null	Het
Gimap9	T	C	6: 48,655,285 (GRCm39)	W291R	probably damaging	Het
Gm4847	G	A	1: 166,457,892 (GRCm39)	A487V	probably damaging	Het
Gria4	T	A	9: 4,420,199 (GRCm39)	I888F	probably benign	Het
Hapln2	T	A	3: 87,930,600 (GRCm39)	I224F	probably damaging	Het
Herc1	T	G	9: 66,283,663 (GRCm39)	L332R	possibly damaging	Het
Hmgxb4	T	C	8: 75,749,927 (GRCm39)	V481A	probably benign	Het
Htr1d	T	C	4: 136,170,109 (GRCm39)	S113P	probably damaging	Het
Ift81	T	C	5: 122,689,163 (GRCm39)	Q651R	probably benign	Het
Il17ra	T	C	6: 120,452,234 (GRCm39)	S199P	probably damaging	Het
Itih2	T	C	2: 10,103,318 (GRCm39)	N723S	probably benign	Het
Jak1	A	T	4: 101,032,325 (GRCm39)	V427E	probably damaging	Het
Krt23	C	T	11: 99,376,584 (GRCm39)	D191N	probably damaging	Het
Lingo1	T	A	9: 56,526,934 (GRCm39)	I552F	possibly damaging	Het
Llgl2	G	A	11: 115,737,812 (GRCm39)	R199Q	probably benign	Het
Lrrc37a	G	T	11: 103,392,042 (GRCm39)	Q1128K	possibly damaging	Het
Lrrc74a	T	C	12: 86,783,263 (GRCm39)	V36A	probably benign	Het
M1ap	T	A	6: 82,980,877 (GRCm39)	D254E	possibly damaging	Het
Mal2	C	T	15: 54,434,794 (GRCm39)		probably benign	Het
Mbnl2	A	G	14: 120,622,833 (GRCm39)	T124A	probably benign	Het
Nfatc1	A	G	18: 80,755,885 (GRCm39)	S33P	probably benign	Het
Nfkbid	A	G	7: 30,125,162 (GRCm39)	N253S	probably damaging	Het
Ngfr	T	A	11: 95,465,267 (GRCm39)	I194F	probably benign	Het
Nhsl1	A	G	10: 18,345,789 (GRCm39)		probably benign	Het
Nol9	T	A	4: 152,125,691 (GRCm39)	I214N	possibly damaging	Het
Or1o3	A	G	17: 37,573,635 (GRCm39)	S307P	probably benign	Het
Or5p56	T	C	7: 107,590,307 (GRCm39)	L245P	probably damaging	Het
Or8k3	T	A	2: 86,058,578 (GRCm39)	T246S	possibly damaging	Het
Pax3	C	T	1: 78,169,186 (GRCm39)	S160N	possibly damaging	Het
Pde3b	A	G	7: 114,122,267 (GRCm39)		probably null	Het
Pde5a	A	C	3: 122,522,956 (GRCm39)	E21A	probably benign	Het
Plcxd1	A	G	5: 110,250,469 (GRCm39)	E270G	probably damaging	Het
Plxna1	T	A	6: 89,333,586 (GRCm39)	K348*	probably null	Het
Pramel34	A	T	5: 93,785,937 (GRCm39)	N114K	probably benign	Het
Prb1b	T	A	6: 132,289,692 (GRCm39)	H44L	unknown	Het
Psg21	G	T	7: 18,388,926 (GRCm39)	D55E	possibly damaging	Het
Rasa1	C	A	13: 85,381,814 (GRCm39)	A493S	probably benign	Het
Raver2	A	G	4: 100,990,814 (GRCm39)	I396V	probably benign	Het
Rpa2	A	G	4: 132,502,331 (GRCm39)	K138E	probably benign	Het
Rsad1	T	C	11: 94,439,062 (GRCm39)	N133D	probably damaging	Het
Rusc1	T	C	3: 88,999,188 (GRCm39)	D198G	probably benign	Het
Samsn1	A	T	16: 75,667,803 (GRCm39)	Y258N	probably damaging	Het
Shisal2a	A	T	4: 108,225,052 (GRCm39)	I170N	probably damaging	Het
Smpd4	T	C	16: 17,449,877 (GRCm39)	Y200H	probably damaging	Het
Steap2	A	G	5: 5,725,881 (GRCm39)	V381A	probably damaging	Het
Syk	C	T	13: 52,765,089 (GRCm39)	T72I	probably damaging	Het
Tbc1d14	T	C	5: 36,729,228 (GRCm39)	D66G	possibly damaging	Het
Tcp11	A	G	17: 28,290,691 (GRCm39)	Y223H	probably benign	Het
Timm9	A	G	12: 71,173,124 (GRCm39)	S8P	probably benign	Het
Tmpo	T	C	10: 91,000,069 (GRCm39)		probably null	Het
Vezf1	T	C	11: 87,967,012 (GRCm39)	M81T	probably benign	Het
Vipr1	T	A	9: 121,493,719 (GRCm39)	W257R	probably damaging	Het
Vmn1r237	G	A	17: 21,534,556 (GRCm39)	G93D	probably damaging	Het
Vmn2r6	A	G	3: 64,445,424 (GRCm39)	V678A	probably benign	Het
Vmn2r85	T	C	10: 130,261,330 (GRCm39)	T336A	possibly damaging	Het
Xpnpep3	C	A	15: 81,322,300 (GRCm39)	D296E	probably benign	Het
Zfp35	C	A	18: 24,137,118 (GRCm39)	H487Q	probably benign	Het
Zfp606	A	T	7: 12,227,928 (GRCm39)	Y625F	probably damaging	Het
Zfp677	A	G	17: 21,617,530 (GRCm39)	T196A	possibly damaging	Het
Zmym1	T	C	4: 126,941,677 (GRCm39)	I904V	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
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
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'- CTGGAACCAGGTGATAGGTCAG -3'
(R):5'- TTAGTGGCCGCCAGATATGC -3'

Sequencing Primer
(F):5'- AGGTCTGCAGCGTCATCATC -3'
(R):5'- AGATATGCTCTGGGCTCCAAG -3'

Posted On

2018-02-27