Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01626:Scaper'

92718

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Scaper

Ensembl Gene

ENSMUSG00000034007

Gene Name

S phase cyclin A-associated protein in the ER

Synonyms

D530014O03Rik, Zfp291

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.581) question?

Stock #

IGL01626

Quality Score

Status

Chromosome

Chromosomal Location

55549879-55938119 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 55912051 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 127 (V127M)

Ref Sequence

ENSEMBL: ENSMUSP00000149750 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037408
AA Change: V127M

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000043411
Gene: ENSMUSG00000034007
AA Change: V127M

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

possibly damaging
Transcript: ENSMUST00000214747
AA Change: V127M

PolyPhen 2 Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

unknown
Transcript: ENSMUST00000216595
AA Change: V127M

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217647
AA Change: V127M

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	G	3: 60,019,174	D188G	probably damaging	Het
AI314180	G	A	4: 58,832,814		probably benign	Het
Aoc1	A	G	6: 48,906,531	Y447C	probably damaging	Het
Brd1	A	T	15: 88,700,887	L915M	probably damaging	Het
Cacna2d3	T	A	14: 28,943,607	E152D	possibly damaging	Het
Dnase2b	A	G	3: 146,584,616		probably null	Het
Fat4	T	C	3: 38,951,032	V1860A	probably damaging	Het
Fbxl5	C	A	5: 43,758,705	G455V	probably benign	Het
Fpr-rs4	G	A	17: 18,022,231	V167M	probably damaging	Het
Fut7	C	A	2: 25,425,331	Y153*	probably null	Het
Gnptab	A	G	10: 88,437,495	T1045A	probably damaging	Het
Gucy1a1	T	A	3: 82,108,619	D354V	probably damaging	Het
Gucy2e	A	G	11: 69,232,855	V406A	possibly damaging	Het
Herc2	T	C	7: 56,085,142	F160S	probably benign	Het
Ice2	T	G	9: 69,407,332	V42G	probably benign	Het
L3mbtl4	A	G	17: 68,630,202	Y406C	probably damaging	Het
Lepr	C	T	4: 101,733,534	T103I	probably benign	Het
Ly75	T	A	2: 60,301,015	M1589L	probably benign	Het
Map4k3	A	G	17: 80,605,809	V644A	probably damaging	Het
Micall1	A	G	15: 79,130,512	D696G	possibly damaging	Het
Muc4	T	C	16: 32,736,402	V8A	possibly damaging	Het
Myo1h	A	G	5: 114,314,966	D9G	probably damaging	Het
Nop14	T	A	5: 34,649,345	K472*	probably null	Het
Npat	T	A	9: 53,556,571	D275E	possibly damaging	Het
Nt5c1b	A	G	12: 10,374,798	T115A	probably benign	Het
Olfr429	A	G	1: 174,089,556	N172S	probably damaging	Het
Olfr709-ps1	A	T	7: 106,927,420	I13N	probably benign	Het
Pnpla7	T	A	2: 25,050,893	S1086T	possibly damaging	Het
Pold1	C	T	7: 44,533,372		probably null	Het
Ppfia1	A	G	7: 144,481,719	F1165L	probably benign	Het
Prlr	T	A	15: 10,328,718	D426E	probably benign	Het
Ptgs2	G	A	1: 150,103,727	R231H	probably damaging	Het
Rorc	A	G	3: 94,388,787	D91G	probably damaging	Het
Sema3g	A	T	14: 31,221,727	Y188F	probably damaging	Het
Slc45a3	G	T	1: 131,978,987	A400S	possibly damaging	Het
Slc9b2	C	A	3: 135,336,395	H478Q	probably benign	Het
Spg11	T	A	2: 122,060,971	H1973L	probably damaging	Het
Srgap3	A	G	6: 112,773,648	Y359H	probably damaging	Het
Stx16	T	G	2: 174,094,020	I248S	probably damaging	Het
Sytl3	A	G	17: 6,735,440	R287G	probably damaging	Het
Tiam1	T	C	16: 89,812,968	T82A	probably damaging	Het
Trpm1	T	C	7: 64,268,889	L659P	probably damaging	Het
Ttc13	G	A	8: 124,673,738		probably benign	Het
Unc80	T	C	1: 66,551,054		probably null	Het
Vldlr	G	T	19: 27,243,773	R613L	probably damaging	Het
Wdr77	C	T	3: 105,959,686	R35*	probably null	Het
Zc3h14	T	G	12: 98,779,186	I478R	possibly damaging	Het
Zfp366	A	G	13: 99,228,412	H27R	probably damaging	Het

Other mutations in Scaper

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00653:Scaper	APN	9	55859859	missense	probably damaging	0.99
IGL00912:Scaper	APN	9	55685955	missense	probably damaging	1.00
IGL01469:Scaper	APN	9	55859767	missense	probably damaging	1.00
IGL01779:Scaper	APN	9	55892240	missense	probably benign	0.20
IGL02011:Scaper	APN	9	55580322	missense	probably damaging	1.00
IGL02997:Scaper	APN	9	55815499	missense	probably damaging	1.00
IGL03107:Scaper	APN	9	55858402	splice site	probably benign
IGL03167:Scaper	APN	9	55859824	missense	probably damaging	1.00
IGL03293:Scaper	APN	9	55874823	missense	probably benign
IGL03340:Scaper	APN	9	55602832	missense	possibly damaging	0.88
IGL03368:Scaper	APN	9	55656027	missense	possibly damaging	0.53
R0111:Scaper	UTSW	9	55602790	missense	probably benign	0.01
R0510:Scaper	UTSW	9	55758062	splice site	probably benign
R0531:Scaper	UTSW	9	55609874	missense	possibly damaging	0.91
R0558:Scaper	UTSW	9	55685923	missense	probably benign	0.08
R0605:Scaper	UTSW	9	55815518	splice site	probably benign
R0646:Scaper	UTSW	9	55758056	missense	probably damaging	1.00
R0837:Scaper	UTSW	9	55859042	nonsense	probably null
R1440:Scaper	UTSW	9	55602918	nonsense	probably null
R1548:Scaper	UTSW	9	55816670	missense	probably damaging	1.00
R1777:Scaper	UTSW	9	55864546	missense	probably benign	0.33
R1822:Scaper	UTSW	9	55859900	missense	probably damaging	0.99
R1834:Scaper	UTSW	9	55816734	missense	possibly damaging	0.90
R1870:Scaper	UTSW	9	55685938	missense	probably damaging	1.00
R2102:Scaper	UTSW	9	55912050	missense	probably benign	0.43
R2168:Scaper	UTSW	9	55743639	missense	probably damaging	1.00
R2174:Scaper	UTSW	9	55859037	missense	probably null	0.01
R3690:Scaper	UTSW	9	55883921	missense	probably benign	0.00
R4392:Scaper	UTSW	9	55858115	missense	probably damaging	0.99
R4418:Scaper	UTSW	9	55838180	missense	probably damaging	1.00
R4606:Scaper	UTSW	9	55655903	critical splice donor site	probably null
R4643:Scaper	UTSW	9	55838179	missense	probably damaging	0.99
R4665:Scaper	UTSW	9	55912055	missense	probably damaging	1.00
R4739:Scaper	UTSW	9	55743648	missense	probably damaging	1.00
R4921:Scaper	UTSW	9	55892235	missense	probably benign	0.02
R4934:Scaper	UTSW	9	55809175	missense	probably damaging	1.00
R4956:Scaper	UTSW	9	55838142	missense	probably damaging	1.00
R5055:Scaper	UTSW	9	55859719	intron	probably null
R5107:Scaper	UTSW	9	55580332	missense	probably damaging	1.00
R5155:Scaper	UTSW	9	55556086	missense	probably null	1.00
R5265:Scaper	UTSW	9	55864546	missense	probably benign
R5408:Scaper	UTSW	9	55586224	missense	probably damaging	0.99
R5623:Scaper	UTSW	9	55864507	missense	probably benign	0.02
R5665:Scaper	UTSW	9	55807632	missense	probably damaging	1.00
R5748:Scaper	UTSW	9	55859076	critical splice acceptor site	probably null
R5771:Scaper	UTSW	9	55816791	missense	probably damaging	1.00
R6534:Scaper	UTSW	9	55883976	missense	probably benign	0.00
R6557:Scaper	UTSW	9	55550850	missense	probably benign	0.02
R6651:Scaper	UTSW	9	55858504	missense	probably benign	0.05
R6796:Scaper	UTSW	9	55864427	missense	probably benign	0.00
R6962:Scaper	UTSW	9	55859771	missense	probably benign	0.01
R7145:Scaper	UTSW	9	55912111	missense	unknown
R7199:Scaper	UTSW	9	55838176	nonsense	probably null
R7356:Scaper	UTSW	9	55892211	missense	unknown
R7426:Scaper	UTSW	9	55762277	nonsense	probably null
R7503:Scaper	UTSW	9	55807754	missense	probably damaging	0.98
X0012:Scaper	UTSW	9	55655930	missense	probably damaging	0.98
X0052:Scaper	UTSW	9	55816664	missense	probably damaging	1.00

Posted On

2013-12-09