Mutagenetix > Incidental Mutation

Incidental Mutation 'R6651:Scaper'

527796

Institutional Source

Beutler Lab

Gene Symbol

Scaper

Ensembl Gene

ENSMUSG00000034007

Gene Name

S phase cyclin A-associated protein in the ER

Synonyms

Zfp291, D530014O03Rik

MMRRC Submission

044772-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.629) question?

Stock #

R6651 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55457163-55845403 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 55765788 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 499 (N499T)

Ref Sequence

ENSEMBL: ENSMUSP00000149050 (fasta)

Gene Model

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

AlphaFold

F8VQ70

Predicted Effect

probably benign
Transcript: ENSMUST00000037408
AA Change: N505T

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000043411
Gene: ENSMUSG00000034007
AA Change: N505T

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: N499T

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000216595

Predicted Effect

probably benign
Transcript: ENSMUST00000217647
AA Change: N505T

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Meta Mutation Damage Score

0.0581

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.7%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	C	7: 43,147,496 (GRCm39)	S198A	possibly damaging	Het
Adamts15	A	T	9: 30,833,448 (GRCm39)	I29N	probably damaging	Het
Ankrd61	A	T	5: 143,830,438 (GRCm39)	I33N	probably damaging	Het
Arl6ip1	C	T	7: 117,728,708 (GRCm39)	R7H	probably benign	Het
Atp8a2	A	T	14: 60,011,470 (GRCm39)	D946E	probably benign	Het
Cc2d2b	A	T	19: 40,766,573 (GRCm39)	Q114L	probably damaging	Het
Ccdc163	T	A	4: 116,566,261 (GRCm39)	S16R	possibly damaging	Het
Chil6	C	T	3: 106,311,576 (GRCm39)	C68Y	probably damaging	Het
Cngb3	G	T	4: 19,375,231 (GRCm39)	R287L	probably benign	Het
Crem	C	T	18: 3,325,428 (GRCm39)	R16H	probably benign	Het
Cyp4f16	C	T	17: 32,763,118 (GRCm39)	R188C	probably benign	Het
Dap	A	G	15: 31,273,353 (GRCm39)	D46G	probably damaging	Het
Dnah7c	C	A	1: 46,688,500 (GRCm39)	T1890K	probably benign	Het
Dnah7c	A	G	1: 46,688,511 (GRCm39)	S1894G	probably benign	Het
Enam	T	C	5: 88,650,776 (GRCm39)	Y687H	probably damaging	Het
Fzd4	A	T	7: 89,054,010 (GRCm39)	D39V	possibly damaging	Het
Ggta1	G	T	2: 35,292,306 (GRCm39)	H334N	probably benign	Het
Golga3	C	T	5: 110,365,996 (GRCm39)	R1254*	probably null	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
Helz2	C	T	2: 180,881,350 (GRCm39)	W377*	probably null	Het
Hfm1	T	C	5: 106,995,553 (GRCm39)	D1286G	probably benign	Het
Hhatl	T	C	9: 121,613,768 (GRCm39)	R425G	probably damaging	Het
Hivep3	G	A	4: 119,980,146 (GRCm39)	R1728H	probably damaging	Het
Hyal1	A	G	9: 107,456,570 (GRCm39)	Y419C	probably damaging	Het
Ighv8-12	A	T	12: 115,611,644 (GRCm39)	D84E	possibly damaging	Het
Itln1	A	G	1: 171,345,940 (GRCm39)	F271L	possibly damaging	Het
Klra7	C	A	6: 130,206,908 (GRCm39)	L64F	probably benign	Het
Kmt2a	A	T	9: 44,740,108 (GRCm39)	C1878*	probably null	Het
Mia2	C	A	12: 59,201,148 (GRCm39)	Q825K	possibly damaging	Het
Mmp12	C	A	9: 7,355,345 (GRCm39)	P294Q	possibly damaging	Het
Nedd4	A	G	9: 72,638,553 (GRCm39)	N480S	possibly damaging	Het
Or4c12b	A	T	2: 89,647,240 (GRCm39)	E190V	probably benign	Het
Or4e5	C	T	14: 52,728,250 (GRCm39)	R57Q	probably benign	Het
Pax6	T	A	2: 105,516,175 (GRCm39)	M151K	probably benign	Het
Pgm2	A	G	5: 64,269,437 (GRCm39)	Y508C	probably benign	Het
Ptpn20	T	C	14: 33,354,897 (GRCm39)	F324S	probably damaging	Het
Recql	A	G	6: 142,310,160 (GRCm39)		probably null	Het
Rerg	A	G	6: 137,033,384 (GRCm39)	V97A	probably damaging	Het
Rffl	C	A	11: 82,703,605 (GRCm39)	C106F	probably damaging	Het
Sfxn3	G	A	19: 45,038,354 (GRCm39)		probably null	Het
Slc36a4	A	G	9: 15,634,874 (GRCm39)	S139G	probably benign	Het
Slco2b1	T	A	7: 99,316,376 (GRCm39)	M385L	probably benign	Het
Smg8	T	C	11: 86,977,372 (GRCm39)	T70A	probably benign	Het
Spats2l	A	T	1: 57,985,336 (GRCm39)	K463M	probably damaging	Het
Thbs4	T	C	13: 92,893,044 (GRCm39)	I715V	probably benign	Het
Tmem234	T	A	4: 129,501,264 (GRCm39)	M113K	possibly damaging	Het
Vmn2r10	T	C	5: 109,143,488 (GRCm39)	I821V	probably null	Het
Vmn2r116	A	T	17: 23,607,805 (GRCm39)	K458*	probably null	Het
Vmn2r76	T	A	7: 85,878,059 (GRCm39)	N446I	possibly damaging	Het
Vmn2r95	T	A	17: 18,660,622 (GRCm39)	Y345N	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATGTCCTGACAGAAGATGCC -3'
(R):5'- GCATAGTGGGAGATAGTAGATCATC -3'

Sequencing Primer
(F):5'- TGTCCTGACAGAAGATGCCAAAGAC -3'
(R):5'- GCAGTATAGCCTAATTGGTGACCTC -3'

Posted On

2018-07-23