Mutagenetix > Incidental Mutation

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

Zfp291, D530014O03Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.629) question?

Stock #

IGL01626

Quality Score

Status

Chromosome

Chromosomal Location

55457163-55845403 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 55819335 bp (GRCm39)

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]

AlphaFold

F8VQ70

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: 59,926,595 (GRCm39)	D188G	probably damaging	Het
Aoc1	A	G	6: 48,883,465 (GRCm39)	Y447C	probably damaging	Het
Brd1	A	T	15: 88,585,090 (GRCm39)	L915M	probably damaging	Het
Cacna2d3	T	A	14: 28,665,564 (GRCm39)	E152D	possibly damaging	Het
Dnase2b	A	G	3: 146,290,371 (GRCm39)		probably null	Het
Ecpas	G	A	4: 58,832,814 (GRCm39)		probably benign	Het
Fat4	T	C	3: 39,005,181 (GRCm39)	V1860A	probably damaging	Het
Fbxl5	C	A	5: 43,916,047 (GRCm39)	G455V	probably benign	Het
Fpr-rs4	G	A	17: 18,242,493 (GRCm39)	V167M	probably damaging	Het
Fut7	C	A	2: 25,315,343 (GRCm39)	Y153*	probably null	Het
Gnptab	A	G	10: 88,273,357 (GRCm39)	T1045A	probably damaging	Het
Gucy1a1	T	A	3: 82,015,926 (GRCm39)	D354V	probably damaging	Het
Gucy2e	A	G	11: 69,123,681 (GRCm39)	V406A	possibly damaging	Het
Herc2	T	C	7: 55,734,890 (GRCm39)	F160S	probably benign	Het
Ice2	T	G	9: 69,314,614 (GRCm39)	V42G	probably benign	Het
L3mbtl4	A	G	17: 68,937,197 (GRCm39)	Y406C	probably damaging	Het
Lepr	C	T	4: 101,590,731 (GRCm39)	T103I	probably benign	Het
Ly75	T	A	2: 60,131,359 (GRCm39)	M1589L	probably benign	Het
Map4k3	A	G	17: 80,913,238 (GRCm39)	V644A	probably damaging	Het
Micall1	A	G	15: 79,014,712 (GRCm39)	D696G	possibly damaging	Het
Muc4	T	C	16: 32,555,220 (GRCm39)	V8A	possibly damaging	Het
Myo1h	A	G	5: 114,453,027 (GRCm39)	D9G	probably damaging	Het
Nop14	T	A	5: 34,806,689 (GRCm39)	K472*	probably null	Het
Npat	T	A	9: 53,467,871 (GRCm39)	D275E	possibly damaging	Het
Nt5c1b	A	G	12: 10,424,798 (GRCm39)	T115A	probably benign	Het
Or2d3c	A	T	7: 106,526,627 (GRCm39)	I13N	probably benign	Het
Or6n1	A	G	1: 173,917,122 (GRCm39)	N172S	probably damaging	Het
Pnpla7	T	A	2: 24,940,905 (GRCm39)	S1086T	possibly damaging	Het
Pold1	C	T	7: 44,182,796 (GRCm39)		probably null	Het
Ppfia1	A	G	7: 144,035,456 (GRCm39)	F1165L	probably benign	Het
Prlr	T	A	15: 10,328,804 (GRCm39)	D426E	probably benign	Het
Ptgs2	G	A	1: 149,979,478 (GRCm39)	R231H	probably damaging	Het
Rorc	A	G	3: 94,296,094 (GRCm39)	D91G	probably damaging	Het
Sema3g	A	T	14: 30,943,684 (GRCm39)	Y188F	probably damaging	Het
Slc45a3	G	T	1: 131,906,725 (GRCm39)	A400S	possibly damaging	Het
Slc9b2	C	A	3: 135,042,156 (GRCm39)	H478Q	probably benign	Het
Spg11	T	A	2: 121,891,452 (GRCm39)	H1973L	probably damaging	Het
Srgap3	A	G	6: 112,750,609 (GRCm39)	Y359H	probably damaging	Het
Stx16	T	G	2: 173,935,813 (GRCm39)	I248S	probably damaging	Het
Sytl3	A	G	17: 7,002,839 (GRCm39)	R287G	probably damaging	Het
Tiam1	T	C	16: 89,609,856 (GRCm39)	T82A	probably damaging	Het
Trpm1	T	C	7: 63,918,637 (GRCm39)	L659P	probably damaging	Het
Ttc13	G	A	8: 125,400,477 (GRCm39)		probably benign	Het
Unc80	T	C	1: 66,590,213 (GRCm39)		probably null	Het
Vldlr	G	T	19: 27,221,173 (GRCm39)	R613L	probably damaging	Het
Wdr77	C	T	3: 105,867,002 (GRCm39)	R35*	probably null	Het
Zc3h14	T	G	12: 98,745,445 (GRCm39)	I478R	possibly damaging	Het
Zfp366	A	G	13: 99,364,920 (GRCm39)	H27R	probably damaging	Het

Other mutations in Scaper

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00653:Scaper	APN	9	55,767,143 (GRCm39)	missense	probably damaging	0.99
IGL00912:Scaper	APN	9	55,593,239 (GRCm39)	missense	probably damaging	1.00
IGL01469:Scaper	APN	9	55,767,051 (GRCm39)	missense	probably damaging	1.00
IGL01779:Scaper	APN	9	55,799,524 (GRCm39)	missense	probably benign	0.20
IGL02011:Scaper	APN	9	55,487,606 (GRCm39)	missense	probably damaging	1.00
IGL02997:Scaper	APN	9	55,722,783 (GRCm39)	missense	probably damaging	1.00
IGL03107:Scaper	APN	9	55,765,686 (GRCm39)	splice site	probably benign
IGL03167:Scaper	APN	9	55,767,108 (GRCm39)	missense	probably damaging	1.00
IGL03293:Scaper	APN	9	55,782,107 (GRCm39)	missense	probably benign
IGL03340:Scaper	APN	9	55,510,116 (GRCm39)	missense	possibly damaging	0.88
IGL03368:Scaper	APN	9	55,563,311 (GRCm39)	missense	possibly damaging	0.53
R0111:Scaper	UTSW	9	55,510,074 (GRCm39)	missense	probably benign	0.01
R0510:Scaper	UTSW	9	55,665,346 (GRCm39)	splice site	probably benign
R0531:Scaper	UTSW	9	55,517,158 (GRCm39)	missense	possibly damaging	0.91
R0558:Scaper	UTSW	9	55,593,207 (GRCm39)	missense	probably benign	0.08
R0605:Scaper	UTSW	9	55,722,802 (GRCm39)	splice site	probably benign
R0646:Scaper	UTSW	9	55,665,340 (GRCm39)	missense	probably damaging	1.00
R0837:Scaper	UTSW	9	55,766,326 (GRCm39)	nonsense	probably null
R1440:Scaper	UTSW	9	55,510,202 (GRCm39)	nonsense	probably null
R1548:Scaper	UTSW	9	55,723,954 (GRCm39)	missense	probably damaging	1.00
R1777:Scaper	UTSW	9	55,771,830 (GRCm39)	missense	probably benign	0.33
R1822:Scaper	UTSW	9	55,767,184 (GRCm39)	missense	probably damaging	0.99
R1834:Scaper	UTSW	9	55,724,018 (GRCm39)	missense	possibly damaging	0.90
R1870:Scaper	UTSW	9	55,593,222 (GRCm39)	missense	probably damaging	1.00
R2102:Scaper	UTSW	9	55,819,334 (GRCm39)	missense	probably benign	0.43
R2168:Scaper	UTSW	9	55,650,923 (GRCm39)	missense	probably damaging	1.00
R2174:Scaper	UTSW	9	55,766,321 (GRCm39)	missense	probably null	0.01
R3690:Scaper	UTSW	9	55,791,205 (GRCm39)	missense	probably benign	0.00
R4392:Scaper	UTSW	9	55,765,399 (GRCm39)	missense	probably damaging	0.99
R4418:Scaper	UTSW	9	55,745,464 (GRCm39)	missense	probably damaging	1.00
R4606:Scaper	UTSW	9	55,563,187 (GRCm39)	critical splice donor site	probably null
R4643:Scaper	UTSW	9	55,745,463 (GRCm39)	missense	probably damaging	0.99
R4665:Scaper	UTSW	9	55,819,339 (GRCm39)	missense	probably damaging	1.00
R4739:Scaper	UTSW	9	55,650,932 (GRCm39)	missense	probably damaging	1.00
R4921:Scaper	UTSW	9	55,799,519 (GRCm39)	missense	probably benign	0.02
R4934:Scaper	UTSW	9	55,716,459 (GRCm39)	missense	probably damaging	1.00
R4956:Scaper	UTSW	9	55,745,426 (GRCm39)	missense	probably damaging	1.00
R5055:Scaper	UTSW	9	55,767,003 (GRCm39)	splice site	probably null
R5107:Scaper	UTSW	9	55,487,616 (GRCm39)	missense	probably damaging	1.00
R5155:Scaper	UTSW	9	55,463,370 (GRCm39)	missense	probably null	1.00
R5265:Scaper	UTSW	9	55,771,830 (GRCm39)	missense	probably benign
R5408:Scaper	UTSW	9	55,493,508 (GRCm39)	missense	probably damaging	0.99
R5623:Scaper	UTSW	9	55,771,791 (GRCm39)	missense	probably benign	0.02
R5665:Scaper	UTSW	9	55,714,916 (GRCm39)	missense	probably damaging	1.00
R5748:Scaper	UTSW	9	55,766,360 (GRCm39)	critical splice acceptor site	probably null
R5771:Scaper	UTSW	9	55,724,075 (GRCm39)	missense	probably damaging	1.00
R6534:Scaper	UTSW	9	55,791,260 (GRCm39)	missense	probably benign	0.00
R6557:Scaper	UTSW	9	55,458,134 (GRCm39)	missense	probably benign	0.02
R6651:Scaper	UTSW	9	55,765,788 (GRCm39)	missense	probably benign	0.05
R6796:Scaper	UTSW	9	55,771,711 (GRCm39)	missense	probably benign	0.00
R6962:Scaper	UTSW	9	55,767,055 (GRCm39)	missense	probably benign	0.01
R7145:Scaper	UTSW	9	55,819,395 (GRCm39)	missense	unknown
R7199:Scaper	UTSW	9	55,745,460 (GRCm39)	nonsense	probably null
R7356:Scaper	UTSW	9	55,799,495 (GRCm39)	missense	unknown
R7426:Scaper	UTSW	9	55,669,561 (GRCm39)	nonsense	probably null
R7503:Scaper	UTSW	9	55,715,038 (GRCm39)	missense	probably damaging	0.98
R7844:Scaper	UTSW	9	55,722,732 (GRCm39)	missense	probably benign	0.04
R7966:Scaper	UTSW	9	55,669,611 (GRCm39)	missense	probably damaging	0.98
R7992:Scaper	UTSW	9	55,765,438 (GRCm39)	missense	probably benign	0.02
R8081:Scaper	UTSW	9	55,823,330 (GRCm39)	missense	unknown
R8189:Scaper	UTSW	9	55,819,404 (GRCm39)	missense	probably damaging	1.00
R8294:Scaper	UTSW	9	55,517,280 (GRCm39)	missense	possibly damaging	0.62
R8351:Scaper	UTSW	9	55,724,088 (GRCm39)	missense	possibly damaging	0.92
R8451:Scaper	UTSW	9	55,724,088 (GRCm39)	missense	possibly damaging	0.92
R8473:Scaper	UTSW	9	55,458,131 (GRCm39)	missense	probably damaging	1.00
R8476:Scaper	UTSW	9	55,669,575 (GRCm39)	missense	probably damaging	1.00
R8504:Scaper	UTSW	9	55,771,722 (GRCm39)	missense	probably benign
R9058:Scaper	UTSW	9	55,722,762 (GRCm39)	missense	probably damaging	1.00
R9071:Scaper	UTSW	9	55,771,803 (GRCm39)	missense	probably benign
R9099:Scaper	UTSW	9	55,669,616 (GRCm39)	missense	probably damaging	0.98
R9104:Scaper	UTSW	9	55,819,400 (GRCm39)	missense	unknown
R9516:Scaper	UTSW	9	55,593,275 (GRCm39)	missense	probably benign	0.05
R9685:Scaper	UTSW	9	55,771,835 (GRCm39)	missense	probably benign	0.10
X0012:Scaper	UTSW	9	55,563,214 (GRCm39)	missense	probably damaging	0.98
X0052:Scaper	UTSW	9	55,723,948 (GRCm39)	missense	probably damaging	1.00
Z1176:Scaper	UTSW	9	55,463,532 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-09