Mutagenetix > Incidental Mutation

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

Zfp291, D530014O03Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.713) question?

Stock #

IGL03167

Quality Score

Status

Chromosome

Chromosomal Location

55457163-55845403 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55767108 bp (GRCm39)

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]

AlphaFold

F8VQ70

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: 34,834,594 (GRCm39)	K921T	possibly damaging	Het
Agtpbp1	A	T	13: 59,679,894 (GRCm39)		probably benign	Het
Ankrd22	A	T	19: 34,143,174 (GRCm39)	M1K	probably null	Het
Ano5	G	A	7: 51,235,259 (GRCm39)	V698I	probably damaging	Het
Ccnh	A	G	13: 85,345,685 (GRCm39)		probably benign	Het
Col15a1	A	T	4: 47,282,635 (GRCm39)	I771F	probably damaging	Het
Dmrt1	T	C	19: 25,523,257 (GRCm39)	S203P	possibly damaging	Het
Exoc5	A	T	14: 49,288,802 (GRCm39)	V82E	probably damaging	Het
Ffar3	A	T	7: 30,554,780 (GRCm39)	V180E	probably damaging	Het
Fhad1	T	C	4: 141,700,108 (GRCm39)	S381G	probably benign	Het
Foxf1	C	A	8: 121,811,647 (GRCm39)	Y170*	probably null	Het
Glis1	A	G	4: 107,293,102 (GRCm39)	D75G	possibly damaging	Het
Gpr151	T	C	18: 42,711,439 (GRCm39)	H413R	probably benign	Het
Gtf3c1	T	C	7: 125,269,752 (GRCm39)		probably null	Het
Htt	T	A	5: 34,976,330 (GRCm39)	F711I	probably damaging	Het
Il1rapl1	A	G	X: 85,790,867 (GRCm39)	I691T	possibly damaging	Het
Iqgap2	T	C	13: 95,821,406 (GRCm39)	Y579C	probably benign	Het
Lingo3	A	G	10: 80,671,178 (GRCm39)	S251P	probably damaging	Het
Mbl1	T	A	14: 40,880,543 (GRCm39)	S144T	probably benign	Het
Musk	A	T	4: 58,366,821 (GRCm39)	R462W	possibly damaging	Het
Mynn	T	C	3: 30,663,191 (GRCm39)	L373P	probably damaging	Het
Myoz2	G	A	3: 122,800,139 (GRCm39)	R230*	probably null	Het
Nup35	A	G	2: 80,488,660 (GRCm39)		probably benign	Het
Or14a259	C	T	7: 86,013,128 (GRCm39)	C139Y	probably damaging	Het
Or2d4	A	G	7: 106,543,852 (GRCm39)	S119P	probably damaging	Het
Or5ak4	C	T	2: 85,161,664 (GRCm39)	D193N	probably benign	Het
Or5m3	T	A	2: 85,838,511 (GRCm39)	Y130*	probably null	Het
Pira2	A	T	7: 3,843,919 (GRCm39)	S618T	probably damaging	Het
Plch1	G	A	3: 63,630,165 (GRCm39)		probably benign	Het
Pparg	T	G	6: 115,450,188 (GRCm39)	F396V	probably damaging	Het
Serpinb2	T	A	1: 107,450,485 (GRCm39)	C161S	probably benign	Het
Skint5	C	T	4: 113,751,047 (GRCm39)	E333K	unknown	Het
Slc22a8	C	T	19: 8,587,322 (GRCm39)	P461S	probably damaging	Het
Slc38a6	C	T	12: 73,397,311 (GRCm39)	Q318*	probably null	Het
Sycp2	T	C	2: 178,021,291 (GRCm39)	K512E	probably damaging	Het
Tas2r103	T	A	6: 133,013,623 (GRCm39)	N148Y	probably damaging	Het
Tcf7l1	A	G	6: 72,609,979 (GRCm39)	M257T	possibly damaging	Het
Tert	T	A	13: 73,788,119 (GRCm39)	N792K	probably damaging	Het
Thada	A	T	17: 84,766,277 (GRCm39)	V43E	probably damaging	Het
Trabd2b	T	C	4: 114,467,195 (GRCm39)	S475P	probably benign	Het
Vmn2r117	A	G	17: 23,696,681 (GRCm39)	V242A	probably damaging	Het
Ypel3	A	T	7: 126,379,247 (GRCm39)	I107F	probably damaging	Het
Zfp352	T	C	4: 90,112,939 (GRCm39)	S360P	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
IGL01626:Scaper	APN	9	55,819,335 (GRCm39)	missense	possibly damaging	0.61
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
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

2016-08-02