Mutagenetix > Incidental Mutation

Incidental Mutation 'R0837:Scaper'

77998

Institutional Source

Beutler Lab

Gene Symbol

Scaper

Ensembl Gene

ENSMUSG00000034007

Gene Name

S phase cyclin A-associated protein in the ER

Synonyms

D530014O03Rik, Zfp291

MMRRC Submission

039016-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.591) question?

Stock #

R0837 (G1)

Quality Score

149

Status

Validated

Chromosome

Chromosomal Location

55549879-55938119 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 55859042 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 483 (C483*)

Ref Sequence

ENSEMBL: ENSMUSP00000149750 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037408] [ENSMUST00000214747] [ENSMUST00000216595] [ENSMUST00000217647]

AlphaFold

F8VQ70

Predicted Effect

probably null
Transcript: ENSMUST00000037408
AA Change: C483*

SMART Domains

Protein: ENSMUSP00000043411
Gene: ENSMUSG00000034007
AA Change: C483*

Domain	Start	End	E-Value	Type
Pfam:SCAPER_N	88	185	3.4e-47	PFAM
low complexity region	323	338	N/A	INTRINSIC
coiled coil region	415	466	N/A	INTRINSIC
coiled coil region	535	597	N/A	INTRINSIC
SCOP:d1eq1a_	605	769	3e-6	SMART
ZnF_C2H2	791	815	1.16e1	SMART
low complexity region	866	883	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000214747
AA Change: C477*

Predicted Effect

probably benign
Transcript: ENSMUST00000216595

Predicted Effect

probably null
Transcript: ENSMUST00000217647
AA Change: C483*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.8%

Validation Efficiency

96% (44/46)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563I02Rik	T	C	14: 60,095,926 (GRCm38)		probably benign	Het
4930579C12Rik	A	G	9: 89,168,207 (GRCm38)		noncoding transcript	Het
Adam34	T	A	8: 43,651,500 (GRCm38)	K369N	probably benign	Het
Ap1g1	T	C	8: 109,851,065 (GRCm38)	W481R	probably damaging	Het
Bicdl1	G	A	5: 115,731,292 (GRCm38)	P26S	probably benign	Het
Cacna1c	A	T	6: 118,630,270 (GRCm38)	C1224*	probably null	Het
Cpsf2	C	T	12: 101,997,242 (GRCm38)		probably benign	Het
Cyp11b2	G	A	15: 74,853,641 (GRCm38)	R210W	probably damaging	Het
Dock7	C	T	4: 98,989,258 (GRCm38)	V1048I	probably benign	Het
Dync2h1	C	A	9: 7,077,979 (GRCm38)	A2908S	probably benign	Het
Elane	A	G	10: 79,887,108 (GRCm38)	D116G	probably damaging	Het
Epb41l2	C	T	10: 25,507,816 (GRCm38)	R153C	probably damaging	Het
Gucy2c	G	A	6: 136,722,420 (GRCm38)	P617L	probably damaging	Het
Hist2h2ab	G	A	3: 96,220,123 (GRCm38)	A70T	probably damaging	Het
Kcnq4	T	A	4: 120,746,861 (GRCm38)	I106L	probably benign	Het
Man2b1	A	G	8: 85,096,829 (GRCm38)	N931D	possibly damaging	Het
Mthfs	A	G	9: 89,215,390 (GRCm38)	E100G	probably damaging	Het
Mto1	A	T	9: 78,473,790 (GRCm38)	I639F	probably damaging	Het
Myo15	A	G	11: 60,487,251 (GRCm38)	E177G	probably damaging	Het
Naip5	T	A	13: 100,230,743 (GRCm38)	M282L	probably benign	Het
Olfr433	A	G	1: 174,042,487 (GRCm38)	D179G	probably damaging	Het
Pik3c2g	G	A	6: 139,957,699 (GRCm38)		probably benign	Het
Prl7d1	T	A	13: 27,714,338 (GRCm38)	M64L	probably benign	Het
Prnp	A	T	2: 131,936,524 (GRCm38)	N32I	probably damaging	Het
Ptpn11	C	T	5: 121,149,111 (GRCm38)	V406I	probably benign	Het
Rab40c	G	A	17: 25,884,693 (GRCm38)	T151I	probably damaging	Het
Rb1cc1	T	A	1: 6,234,271 (GRCm38)		probably null	Het
Rnf145	T	C	11: 44,524,988 (GRCm38)	V10A	probably benign	Het
Rtn4rl2	T	C	2: 84,880,692 (GRCm38)	N70S	probably damaging	Het
Sema4a	T	A	3: 88,453,098 (GRCm38)	Q58L	possibly damaging	Het
Slf1	T	C	13: 77,100,948 (GRCm38)		probably null	Het
Sycp1	G	T	3: 102,915,245 (GRCm38)	N364K	probably benign	Het
Tenm4	T	C	7: 96,896,275 (GRCm38)		probably benign	Het
Tnfaip2	A	G	12: 111,450,707 (GRCm38)	T537A	probably damaging	Het
Trappc12	A	G	12: 28,703,597 (GRCm38)	I573T	possibly damaging	Het
Ugt2b38	G	A	5: 87,411,773 (GRCm38)	T420I	probably damaging	Het
Ulk1	A	T	5: 110,789,545 (GRCm38)		probably benign	Het
Unc80	G	A	1: 66,648,944 (GRCm38)	C2367Y	possibly damaging	Het
Usp7	C	A	16: 8,703,502 (GRCm38)	G135C	probably damaging	Het
Vmn2r103	A	G	17: 19,793,927 (GRCm38)	Y327C	probably damaging	Het
Vmn2r28	T	A	7: 5,488,027 (GRCm38)	H407L	probably damaging	Het
Zfp804a	A	C	2: 82,259,162 (GRCm38)	T1112P	probably damaging	Het
Zfr2	A	G	10: 81,245,408 (GRCm38)	K431E	probably damaging	Het
Zfy1	A	T	Y: 725,850 (GRCm38)	Y638*	probably null	Het

Other mutations in Scaper

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00653:Scaper	APN	9	55,859,859 (GRCm38)	missense	probably damaging	0.99
IGL00912:Scaper	APN	9	55,685,955 (GRCm38)	missense	probably damaging	1.00
IGL01469:Scaper	APN	9	55,859,767 (GRCm38)	missense	probably damaging	1.00
IGL01626:Scaper	APN	9	55,912,051 (GRCm38)	missense	possibly damaging	0.61
IGL01779:Scaper	APN	9	55,892,240 (GRCm38)	missense	probably benign	0.20
IGL02011:Scaper	APN	9	55,580,322 (GRCm38)	missense	probably damaging	1.00
IGL02997:Scaper	APN	9	55,815,499 (GRCm38)	missense	probably damaging	1.00
IGL03107:Scaper	APN	9	55,858,402 (GRCm38)	splice site	probably benign
IGL03167:Scaper	APN	9	55,859,824 (GRCm38)	missense	probably damaging	1.00
IGL03293:Scaper	APN	9	55,874,823 (GRCm38)	missense	probably benign
IGL03340:Scaper	APN	9	55,602,832 (GRCm38)	missense	possibly damaging	0.88
IGL03368:Scaper	APN	9	55,656,027 (GRCm38)	missense	possibly damaging	0.53
R0111:Scaper	UTSW	9	55,602,790 (GRCm38)	missense	probably benign	0.01
R0510:Scaper	UTSW	9	55,758,062 (GRCm38)	splice site	probably benign
R0531:Scaper	UTSW	9	55,609,874 (GRCm38)	missense	possibly damaging	0.91
R0558:Scaper	UTSW	9	55,685,923 (GRCm38)	missense	probably benign	0.08
R0605:Scaper	UTSW	9	55,815,518 (GRCm38)	splice site	probably benign
R0646:Scaper	UTSW	9	55,758,056 (GRCm38)	missense	probably damaging	1.00
R1440:Scaper	UTSW	9	55,602,918 (GRCm38)	nonsense	probably null
R1548:Scaper	UTSW	9	55,816,670 (GRCm38)	missense	probably damaging	1.00
R1777:Scaper	UTSW	9	55,864,546 (GRCm38)	missense	probably benign	0.33
R1822:Scaper	UTSW	9	55,859,900 (GRCm38)	missense	probably damaging	0.99
R1834:Scaper	UTSW	9	55,816,734 (GRCm38)	missense	possibly damaging	0.90
R1870:Scaper	UTSW	9	55,685,938 (GRCm38)	missense	probably damaging	1.00
R2102:Scaper	UTSW	9	55,912,050 (GRCm38)	missense	probably benign	0.43
R2168:Scaper	UTSW	9	55,743,639 (GRCm38)	missense	probably damaging	1.00
R2174:Scaper	UTSW	9	55,859,037 (GRCm38)	missense	probably null	0.01
R3690:Scaper	UTSW	9	55,883,921 (GRCm38)	missense	probably benign	0.00
R4392:Scaper	UTSW	9	55,858,115 (GRCm38)	missense	probably damaging	0.99
R4418:Scaper	UTSW	9	55,838,180 (GRCm38)	missense	probably damaging	1.00
R4606:Scaper	UTSW	9	55,655,903 (GRCm38)	critical splice donor site	probably null
R4643:Scaper	UTSW	9	55,838,179 (GRCm38)	missense	probably damaging	0.99
R4665:Scaper	UTSW	9	55,912,055 (GRCm38)	missense	probably damaging	1.00
R4739:Scaper	UTSW	9	55,743,648 (GRCm38)	missense	probably damaging	1.00
R4921:Scaper	UTSW	9	55,892,235 (GRCm38)	missense	probably benign	0.02
R4934:Scaper	UTSW	9	55,809,175 (GRCm38)	missense	probably damaging	1.00
R4956:Scaper	UTSW	9	55,838,142 (GRCm38)	missense	probably damaging	1.00
R5055:Scaper	UTSW	9	55,859,719 (GRCm38)	splice site	probably null
R5107:Scaper	UTSW	9	55,580,332 (GRCm38)	missense	probably damaging	1.00
R5155:Scaper	UTSW	9	55,556,086 (GRCm38)	missense	probably null	1.00
R5265:Scaper	UTSW	9	55,864,546 (GRCm38)	missense	probably benign
R5408:Scaper	UTSW	9	55,586,224 (GRCm38)	missense	probably damaging	0.99
R5623:Scaper	UTSW	9	55,864,507 (GRCm38)	missense	probably benign	0.02
R5665:Scaper	UTSW	9	55,807,632 (GRCm38)	missense	probably damaging	1.00
R5748:Scaper	UTSW	9	55,859,076 (GRCm38)	critical splice acceptor site	probably null
R5771:Scaper	UTSW	9	55,816,791 (GRCm38)	missense	probably damaging	1.00
R6534:Scaper	UTSW	9	55,883,976 (GRCm38)	missense	probably benign	0.00
R6557:Scaper	UTSW	9	55,550,850 (GRCm38)	missense	probably benign	0.02
R6651:Scaper	UTSW	9	55,858,504 (GRCm38)	missense	probably benign	0.05
R6796:Scaper	UTSW	9	55,864,427 (GRCm38)	missense	probably benign	0.00
R6962:Scaper	UTSW	9	55,859,771 (GRCm38)	missense	probably benign	0.01
R7145:Scaper	UTSW	9	55,912,111 (GRCm38)	missense	unknown
R7199:Scaper	UTSW	9	55,838,176 (GRCm38)	nonsense	probably null
R7356:Scaper	UTSW	9	55,892,211 (GRCm38)	missense	unknown
R7426:Scaper	UTSW	9	55,762,277 (GRCm38)	nonsense	probably null
R7503:Scaper	UTSW	9	55,807,754 (GRCm38)	missense	probably damaging	0.98
R7844:Scaper	UTSW	9	55,815,448 (GRCm38)	missense	probably benign	0.04
R7966:Scaper	UTSW	9	55,762,327 (GRCm38)	missense	probably damaging	0.98
R7992:Scaper	UTSW	9	55,858,154 (GRCm38)	missense	probably benign	0.02
R8081:Scaper	UTSW	9	55,916,046 (GRCm38)	missense	unknown
R8189:Scaper	UTSW	9	55,912,120 (GRCm38)	missense	probably damaging	1.00
R8294:Scaper	UTSW	9	55,609,996 (GRCm38)	missense	possibly damaging	0.62
R8351:Scaper	UTSW	9	55,816,804 (GRCm38)	missense	possibly damaging	0.92
R8451:Scaper	UTSW	9	55,816,804 (GRCm38)	missense	possibly damaging	0.92
R8473:Scaper	UTSW	9	55,550,847 (GRCm38)	missense	probably damaging	1.00
R8476:Scaper	UTSW	9	55,762,291 (GRCm38)	missense	probably damaging	1.00
R8504:Scaper	UTSW	9	55,864,438 (GRCm38)	missense	probably benign
R9058:Scaper	UTSW	9	55,815,478 (GRCm38)	missense	probably damaging	1.00
R9071:Scaper	UTSW	9	55,864,519 (GRCm38)	missense	probably benign
R9099:Scaper	UTSW	9	55,762,332 (GRCm38)	missense	probably damaging	0.98
R9104:Scaper	UTSW	9	55,912,116 (GRCm38)	missense	unknown
R9516:Scaper	UTSW	9	55,685,991 (GRCm38)	missense	probably benign	0.05
R9685:Scaper	UTSW	9	55,864,551 (GRCm38)	missense	probably benign	0.10
X0012:Scaper	UTSW	9	55,655,930 (GRCm38)	missense	probably damaging	0.98
X0052:Scaper	UTSW	9	55,816,664 (GRCm38)	missense	probably damaging	1.00
Z1176:Scaper	UTSW	9	55,556,248 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCAGGCTCCTCTTCTACAATATCTC -3'
(R):5'- GGTTCCTGTGAATGGCTACTGAACTC -3'

Sequencing Primer
(F):5'- agccagaaagcccccag -3'
(R):5'- AGTTTTGCTTTTGTTTGTTTGGTTC -3'

Posted On

2013-10-16