Mutagenetix > Incidental Mutation

Incidental Mutation 'R4643:Scaper'

351738

Institutional Source

Beutler Lab

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 #

R4643 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55457163-55845403 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 55745463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 596 (F596V)

Ref Sequence

ENSEMBL: ENSMUSP00000149050 (fasta)

Gene Model

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

AlphaFold

F8VQ70

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037408
AA Change: F602V

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000043411
Gene: ENSMUSG00000034007
AA Change: F602V

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: F596V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000216595

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217647
AA Change: F602V

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,611,396 (GRCm39)	N398D	probably damaging	Het
Adamtsl4	G	A	3: 95,591,929 (GRCm39)	A58V	possibly damaging	Het
Anapc2	T	A	2: 25,166,406 (GRCm39)	V105E	probably benign	Het
C3ar1	A	T	6: 122,827,933 (GRCm39)	C95S	probably damaging	Het
Ccdc87	G	A	19: 4,891,877 (GRCm39)	G790R	probably damaging	Het
Cenpf	A	T	1: 189,391,786 (GRCm39)	M682K	probably benign	Het
Cyp2j13	T	C	4: 95,945,161 (GRCm39)	Q289R	possibly damaging	Het
Dclk2	A	T	3: 86,713,487 (GRCm39)	M453K	possibly damaging	Het
Dscam	G	A	16: 96,486,501 (GRCm39)	T1058M	probably damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Grip1	A	G	10: 119,856,006 (GRCm39)	N659S	probably damaging	Het
Hectd4	A	G	5: 121,487,118 (GRCm39)	K3371R	possibly damaging	Het
Il1a	T	A	2: 129,146,623 (GRCm39)	T157S	probably benign	Het
Il23r	A	G	6: 67,400,977 (GRCm39)	V451A	probably benign	Het
Iqch	T	C	9: 63,502,084 (GRCm39)	T40A	probably benign	Het
Irag2	A	T	6: 145,113,786 (GRCm39)	D318V	probably benign	Het
Kazald1	G	T	19: 45,066,788 (GRCm39)	V196L	probably benign	Het
L1td1	T	C	4: 98,626,120 (GRCm39)	S772P	probably damaging	Het
Lgi1	A	T	19: 38,289,158 (GRCm39)	D145V	probably damaging	Het
Lrp12	A	T	15: 39,735,418 (GRCm39)	L838Q	probably damaging	Het
Mrgprf	C	A	7: 144,862,242 (GRCm39)	P268Q	probably benign	Het
Myef2	T	C	2: 124,958,731 (GRCm39)	K66R	possibly damaging	Het
Myo3b	A	G	2: 70,069,186 (GRCm39)	D475G	possibly damaging	Het
Numa1	C	G	7: 101,649,872 (GRCm39)		probably null	Het
Or6c214	T	C	10: 129,590,824 (GRCm39)	E165G	probably damaging	Het
Prdm8	T	C	5: 98,332,446 (GRCm39)	S116P	possibly damaging	Het
Pyroxd1	C	G	6: 142,300,467 (GRCm39)	S199*	probably null	Het
R3hcc1l	G	T	19: 42,551,239 (GRCm39)	V79F	probably benign	Het
Rasal1	C	T	5: 120,817,029 (GRCm39)	T779I	probably benign	Het
Slco2b1	C	T	7: 99,316,214 (GRCm39)	V439M	probably benign	Het
Slco6c1	A	T	1: 96,990,149 (GRCm39)	D680E	probably benign	Het
Smurf1	A	T	5: 144,816,179 (GRCm39)	F725L	probably damaging	Het
Snd1	A	G	6: 28,880,248 (GRCm39)	E674G	probably benign	Het
Srcap	C	T	7: 127,140,948 (GRCm39)	P1515L	probably damaging	Het
Sycp2l	A	G	13: 41,296,941 (GRCm39)	M341V	probably benign	Het
Tmprss6	T	A	15: 78,329,556 (GRCm39)	I492F	probably damaging	Het
Trip10	G	T	17: 57,568,658 (GRCm39)	E416*	probably null	Het
Tstd2	T	C	4: 46,129,297 (GRCm39)	D177G	possibly damaging	Het
Ugt1a5	A	T	1: 88,094,147 (GRCm39)	N125I	possibly damaging	Het
Vmn2r7	G	T	3: 64,623,825 (GRCm39)	S165Y	probably damaging	Het
Zfp663	A	T	2: 165,194,925 (GRCm39)	H431Q	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- CCACAGCAGAAATCTTTGGAATAG -3'
(R):5'- AAGGAAGCTGTAGTTCTGGCTATG -3'

Sequencing Primer
(F):5'- GTGCAGCTTATCCTGTCAAGTAGATC -3'
(R):5'- AAGCTGTAGTTCTGGCTATGTAGTAG -3'

Posted On

2015-10-08