Mutagenetix > Incidental Mutation

Incidental Mutation 'R3276:Scap'

258223

Institutional Source

Beutler Lab

Gene Symbol

Scap

Ensembl Gene

ENSMUSG00000032485

Gene Name

SREBF chaperone

Synonyms

Accession Numbers

Genbank: NM_001001144; MGI: 2135958

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3276 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110333288-110384950 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110374025 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 256 (M256L)

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: M256L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000095953
Gene: ENSMUSG00000032485
AA Change: M256L

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

Meta Mutation Damage Score

0.0629

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.7%

Validation Efficiency

96% (47/49)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	C	T	8: 86,506,866	R1269H	probably damaging	Het
Ace	A	G	11: 105,976,702	E164G	probably null	Het
Als2	A	T	1: 59,170,008	V1464E	possibly damaging	Het
Atox1	A	G	11: 55,450,553	L52P	possibly damaging	Het
Btnl10	A	G	11: 58,922,390	K282E	probably benign	Het
Cdkn3	T	C	14: 46,771,477		probably benign	Het
Col16a1	A	G	4: 130,057,999	K72E	probably damaging	Het
Col6a5	G	A	9: 105,911,107	R1565*	probably null	Het
Col6a6	T	C	9: 105,786,230	H36R	probably benign	Het
Cyp4b1	T	C	4: 115,625,850	N415D	possibly damaging	Het
Dennd4a	G	T	9: 64,888,993	R767L	probably damaging	Het
Dhcr24	T	C	4: 106,561,239	F25L	probably benign	Het
Dhrs3	A	G	4: 144,923,940	T219A	probably benign	Het
Dhx58	A	G	11: 100,696,979	F584S	probably damaging	Het
Dmbt1	A	G	7: 131,088,071	T715A	probably benign	Het
Eogt	T	A	6: 97,131,394	I229F	probably benign	Het
Ern2	T	C	7: 122,180,964	T164A	possibly damaging	Het
Fam133b	A	T	5: 3,558,522	N84I	probably damaging	Het
Fbxl21	T	A	13: 56,537,122	Y346*	probably null	Het
Fcgbp	C	A	7: 28,091,661	H782Q	probably damaging	Het
Gm11492	T	C	11: 87,567,244	V148A	possibly damaging	Het
Gm5592	A	G	7: 41,288,380	E362G	probably benign	Het
Golga3	T	C	5: 110,201,998		probably benign	Het
Gpatch2l	A	G	12: 86,244,315	T91A	possibly damaging	Het
Hsp90aa1	T	A	12: 110,695,680	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,695,681		probably null	Het
Itgad	C	A	7: 128,190,981	H651N	possibly damaging	Het
Itgav	A	G	2: 83,776,542	D409G	probably damaging	Het
Kcnt2	A	G	1: 140,609,639	N1119S	probably benign	Het
Klhl32	T	C	4: 24,682,063	I207V	probably benign	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lhfpl5	T	C	17: 28,579,946	I143T	possibly damaging	Het
Lrrk1	T	C	7: 66,305,521	K431E	possibly damaging	Het
Mag	C	T	7: 30,901,648		probably null	Het
Maml3	A	T	3: 51,856,930	N204K	possibly damaging	Het
Mrpl19	T	C	6: 81,964,066	S115G	probably damaging	Het
Mthfd1l	G	C	10: 4,148,025	G954A	probably damaging	Het
Mut	A	G	17: 40,958,872		probably null	Het
Myo19	A	G	11: 84,892,175	I172V	probably benign	Het
Naca	T	C	10: 128,040,661		probably benign	Het
Nfatc2	T	C	2: 168,506,994	N638D	possibly damaging	Het
Nsun6	A	G	2: 15,009,404		probably benign	Het
Olfr1412	A	G	1: 92,588,813	N161S	probably benign	Het
Olfr584	C	A	7: 103,085,750	D72E	probably damaging	Het
Olfr913	T	A	9: 38,594,643	C141S	probably damaging	Het
Padi6	A	G	4: 140,735,389	L307P	probably damaging	Het
Pafah1b1	G	A	11: 74,690,232	S57F	probably damaging	Het
Prcd	A	G	11: 116,659,811	E103G	possibly damaging	Het
Prkx	A	T	X: 77,771,275	F260I	probably damaging	Het
Rad54l2	A	G	9: 106,753,943		probably null	Het
Ranbp1	T	C	16: 18,247,429		probably benign	Het
Rb1cc1	T	A	1: 6,249,366	M1003K	probably benign	Het
Sema4c	C	T	1: 36,549,879	R722H	possibly damaging	Het
Sgk1	C	T	10: 21,996,601	R171W	probably damaging	Het
Spata7	A	G	12: 98,637,598	N75D	possibly damaging	Het
Tmem120b	T	A	5: 123,114,104	I146N	probably damaging	Het
Ttc23l	A	G	15: 10,547,232	F99L	possibly damaging	Het
Ube3a	T	A	7: 59,276,519	C348*	probably null	Het
Ubr4	T	A	4: 139,421,855	D1777E	probably benign	Het
Unc79	C	A	12: 103,113,217	D1880E	probably damaging	Het
Usp36	C	T	11: 118,276,759		probably null	Het
Zswim9	T	C	7: 13,277,270	T51A	possibly 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	splice site	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
R1416:Scap	UTSW	9	110384773	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
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	splice site	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
R7726:Scap	UTSW	9	110378367	splice site	probably null
R7898:Scap	UTSW	9	110384743	missense	possibly damaging	0.74
R8357:Scap	UTSW	9	110381286	missense	probably benign	0.07
R8457:Scap	UTSW	9	110381286	missense	probably benign	0.07
R8829:Scap	UTSW	9	110380203	missense	probably damaging	0.99
R9381:Scap	UTSW	9	110378771	missense	probably damaging	1.00
R9412:Scap	UTSW	9	110378605	missense	possibly damaging	0.86
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'- CTGGAACCAGGTGATAGGTCAG -3'
(R):5'- GCTTTAGTGGCCGCCAGATATG -3'

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

Posted On

2015-01-23