Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03167:Scaper'

411676

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 non essential (E-score: 0.485) question?

Stock #

IGL03167

Quality Score

Status

Chromosome

Chromosomal Location

55549879-55938119 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55859824 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 441 (E441G)

Ref Sequence

ENSEMBL: ENSMUSP00000149050 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000037408
AA Change: E447G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000043411
Gene: ENSMUSG00000034007
AA Change: E447G

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 damaging
Transcript: ENSMUST00000214747
AA Change: E441G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000216595

Predicted Effect

probably damaging
Transcript: ENSMUST00000217647
AA Change: E447G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl3	A	C	6: 34,857,659	K921T	possibly damaging	Het
Agtpbp1	A	T	13: 59,532,080		probably benign	Het
Ankrd22	A	T	19: 34,165,774	M1K	probably null	Het
Ano5	G	A	7: 51,585,511	V698I	probably damaging	Het
Ccnh	A	G	13: 85,197,566		probably benign	Het
Col15a1	A	T	4: 47,282,635	I771F	probably damaging	Het
Dmrt1	T	C	19: 25,545,893	S203P	possibly damaging	Het
Exoc5	A	T	14: 49,051,345	V82E	probably damaging	Het
Ffar3	A	T	7: 30,855,355	V180E	probably damaging	Het
Fhad1	T	C	4: 141,972,797	S381G	probably benign	Het
Foxf1	C	A	8: 121,084,908	Y170*	probably null	Het
Glis1	A	G	4: 107,435,905	D75G	possibly damaging	Het
Gpr151	T	C	18: 42,578,374	H413R	probably benign	Het
Gtf3c1	T	C	7: 125,670,580		probably null	Het
Htt	T	A	5: 34,818,986	F711I	probably damaging	Het
Il1rapl1	A	G	X: 86,747,261	I691T	possibly damaging	Het
Iqgap2	T	C	13: 95,684,898	Y579C	probably benign	Het
Lingo3	A	G	10: 80,835,344	S251P	probably damaging	Het
Mbl1	T	A	14: 41,158,586	S144T	probably benign	Het
Musk	A	T	4: 58,366,821	R462W	possibly damaging	Het
Mynn	T	C	3: 30,609,042	L373P	probably damaging	Het
Myoz2	G	A	3: 123,006,490	R230*	probably null	Het
Nup35	A	G	2: 80,658,316		probably benign	Het
Olfr1032	T	A	2: 86,008,167	Y130*	probably null	Het
Olfr305	C	T	7: 86,363,920	C139Y	probably damaging	Het
Olfr710	A	G	7: 106,944,645	S119P	probably damaging	Het
Olfr987	C	T	2: 85,331,320	D193N	probably benign	Het
Pira2	A	T	7: 3,840,920	S618T	probably damaging	Het
Plch1	G	A	3: 63,722,744		probably benign	Het
Pparg	T	G	6: 115,473,227	F396V	probably damaging	Het
Serpinb2	T	A	1: 107,522,755	C161S	probably benign	Het
Skint5	C	T	4: 113,893,850	E333K	unknown	Het
Slc22a8	C	T	19: 8,609,958	P461S	probably damaging	Het
Slc38a6	C	T	12: 73,350,537	Q318*	probably null	Het
Sycp2	T	C	2: 178,379,498	K512E	probably damaging	Het
Tas2r103	T	A	6: 133,036,660	N148Y	probably damaging	Het
Tcf7l1	A	G	6: 72,632,996	M257T	possibly damaging	Het
Tert	T	A	13: 73,640,000	N792K	probably damaging	Het
Thada	A	T	17: 84,458,849	V43E	probably damaging	Het
Trabd2b	T	C	4: 114,609,998	S475P	probably benign	Het
Vmn2r117	A	G	17: 23,477,707	V242A	probably damaging	Het
Ypel3	A	T	7: 126,780,075	I107F	probably damaging	Het
Zfp352	T	C	4: 90,224,702	S360P	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
IGL01626:Scaper	APN	9	55912051	missense	possibly damaging	0.61
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
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

2016-08-02