Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01779:Scaper'

153881

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: 0.587) question?

Stock #

IGL01779

Quality Score

Status

Chromosome

Chromosomal Location

55549879-55938119 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55892240 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 180 (H180Q)

Ref Sequence

ENSEMBL: ENSMUSP00000149750 (fasta)

Gene Model

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

AlphaFold

F8VQ70

Predicted Effect

probably benign
Transcript: ENSMUST00000037408
AA Change: H180Q

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000043411
Gene: ENSMUSG00000034007
AA Change: H180Q

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 benign
Transcript: ENSMUST00000214747
AA Change: H180Q

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

unknown
Transcript: ENSMUST00000216595
AA Change: H180Q

Predicted Effect

probably benign
Transcript: ENSMUST00000217647
AA Change: H180Q

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	A	T	5: 81,387,870	I119F	probably damaging	Het
Akt1	C	T	12: 112,657,169	G286R	probably damaging	Het
Apof	A	G	10: 128,269,477	I167V	probably benign	Het
Arhgap15	A	G	2: 44,065,045	E220G	possibly damaging	Het
Clca3a2	T	A	3: 144,819,378	Y31F	possibly damaging	Het
Clmn	T	C	12: 104,782,140	I383V	probably benign	Het
Cntnap5b	A	G	1: 99,967,339	D112G	probably damaging	Het
Col8a1	A	T	16: 57,628,363	H261Q	unknown	Het
Csmd3	A	T	15: 47,857,894	V1551D	probably benign	Het
Ddx60	G	A	8: 62,017,823	V1450M	possibly damaging	Het
Ethe1	A	T	7: 24,595,009	H79L	probably damaging	Het
Fhdc1	G	A	3: 84,444,735	A1061V	possibly damaging	Het
Gm11110	C	T	17: 57,102,087		probably benign	Het
Hs1bp3	C	T	12: 8,341,945	T349I	probably benign	Het
Ifna16	A	T	4: 88,676,645	I71N	probably damaging	Het
Il18bp	A	G	7: 102,016,795	Y59H	possibly damaging	Het
Kcnt1	T	A	2: 25,900,967	I511N	probably damaging	Het
Mlph	A	G	1: 90,942,950	M528V	probably benign	Het
Olfr646	A	G	7: 104,106,633	D118G	probably damaging	Het
Pprc1	T	A	19: 46,062,202	I52N	probably damaging	Het
Rfx1	T	A	8: 84,092,662		probably benign	Het
Rnf17	A	T	14: 56,462,063	I553F	probably benign	Het
Slc26a4	C	T	12: 31,528,854		probably benign	Het
Slc30a10	A	T	1: 185,464,179	Q346L	possibly damaging	Het
Stambpl1	A	T	19: 34,240,027	H422L	possibly damaging	Het
Trim67	G	A	8: 124,828,121	G701R	probably damaging	Het
Vipr1	T	C	9: 121,664,630	F249S	probably damaging	Het
Vmn2r117	G	T	17: 23,477,241	D397E	probably benign	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
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	splice site	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
R7844:Scaper	UTSW	9	55815448	missense	probably benign	0.04
R7966:Scaper	UTSW	9	55762327	missense	probably damaging	0.98
R7992:Scaper	UTSW	9	55858154	missense	probably benign	0.02
R8081:Scaper	UTSW	9	55916046	missense	unknown
R8189:Scaper	UTSW	9	55912120	missense	probably damaging	1.00
R8294:Scaper	UTSW	9	55609996	missense	possibly damaging	0.62
R8351:Scaper	UTSW	9	55816804	missense	possibly damaging	0.92
R8451:Scaper	UTSW	9	55816804	missense	possibly damaging	0.92
R8473:Scaper	UTSW	9	55550847	missense	probably damaging	1.00
R8476:Scaper	UTSW	9	55762291	missense	probably damaging	1.00
R8504:Scaper	UTSW	9	55864438	missense	probably benign
R9058:Scaper	UTSW	9	55815478	missense	probably damaging	1.00
R9071:Scaper	UTSW	9	55864519	missense	probably benign
R9099:Scaper	UTSW	9	55762332	missense	probably damaging	0.98
R9104:Scaper	UTSW	9	55912116	missense	unknown
R9516:Scaper	UTSW	9	55685991	missense	probably benign	0.05
R9685:Scaper	UTSW	9	55864551	missense	probably benign	0.10
X0012:Scaper	UTSW	9	55655930	missense	probably damaging	0.98
X0052:Scaper	UTSW	9	55816664	missense	probably damaging	1.00
Z1176:Scaper	UTSW	9	55556248	missense	probably damaging	1.00

Posted On

2014-02-04