Mutagenetix > Incidental Mutation

Incidental Mutation 'R6567:Scap'

522758

Institutional Source

Beutler Lab

Gene Symbol

Scap

Ensembl Gene

ENSMUSG00000032485

Gene Name

SREBF chaperone

Synonyms

MMRRC Submission

044691-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6567 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110162356-110214017 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 110212630 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 1021 (R1021W)

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: R1021W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095953
Gene: ENSMUSG00000032485
AA Change: R1021W

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: ENSMUST00000200278

Predicted Effect

probably benign
Transcript: ENSMUST00000200531

Meta Mutation Damage Score

0.7837

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (32/32)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	C	11: 48,838,950 (GRCm39)	T546A	probably benign	Het
Ahnak	G	T	19: 8,986,170 (GRCm39)	V2485L	probably benign	Het
C2cd5	T	C	6: 142,976,974 (GRCm39)	I722M	possibly damaging	Het
Clca4b	A	G	3: 144,638,100 (GRCm39)	I54T	possibly damaging	Het
Dennd2c	C	T	3: 103,039,335 (GRCm39)	A161V	probably benign	Het
Dmxl1	T	C	18: 49,992,246 (GRCm39)	Y331H	probably damaging	Het
Dnaaf11	C	T	15: 66,310,228 (GRCm39)	V347I	probably benign	Het
Dnajc2	G	A	5: 21,971,676 (GRCm39)	R247W	probably damaging	Het
Dock3	T	C	9: 106,773,946 (GRCm39)	T380A	probably benign	Het
Evc2	T	C	5: 37,576,508 (GRCm39)	V1044A	probably benign	Het
Ints2	T	C	11: 86,117,487 (GRCm39)	H745R	probably benign	Het
Kcnh1	T	A	1: 191,959,412 (GRCm39)	M322K	probably benign	Het
Mmp19	A	G	10: 128,632,275 (GRCm39)	T191A	probably benign	Het
Mms19	A	G	19: 41,938,206 (GRCm39)		probably null	Het
Mtcl3	G	T	10: 29,023,279 (GRCm39)	V209F	probably benign	Het
Ncapd3	T	C	9: 26,978,300 (GRCm39)	I833T	possibly damaging	Het
Nif3l1	T	A	1: 58,494,789 (GRCm39)	C253S	probably benign	Het
Or52e2	A	T	7: 102,804,135 (GRCm39)	I273K	possibly damaging	Het
Pate5	T	A	9: 35,750,411 (GRCm39)	Y87F	probably benign	Het
Pcsk1	T	A	13: 75,278,189 (GRCm39)	I584N	probably damaging	Het
Pms2	T	C	5: 143,865,786 (GRCm39)	V50A	probably damaging	Het
Rptor	A	G	11: 119,786,838 (GRCm39)	I1268V	probably benign	Het
Sos1	A	T	17: 80,740,932 (GRCm39)	Y618N	probably damaging	Het
Tesk2	C	T	4: 116,649,361 (GRCm39)	A157V	probably damaging	Het
Tm6sf2	C	A	8: 70,528,174 (GRCm39)	H108N	probably damaging	Het
Trank1	T	C	9: 111,176,589 (GRCm39)	V287A	probably benign	Het
Tsks	A	T	7: 44,603,305 (GRCm39)	Q369L	probably damaging	Het
Vmn2r58	T	C	7: 41,514,673 (GRCm39)	T99A	probably benign	Het
Wbp11	C	T	6: 136,797,537 (GRCm39)	S294N	probably benign	Het
Zfp608	T	C	18: 55,030,628 (GRCm39)	Y1104C	probably damaging	Het
Zfp759	T	A	13: 67,287,150 (GRCm39)	S234T	probably benign	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
R6190:Scap	UTSW	9	110,203,135 (GRCm39)	missense	probably benign	0.01
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'- ACTCATCAGCGACCACATTATG -3'
(R):5'- CTGCTGTACACAGATGAGGAAG -3'

Sequencing Primer
(F):5'- CAGCGACCACATTATGAATTATTAGC -3'
(R):5'- AAGGAGAACTGCCTCGCC -3'

Posted On

2018-06-06