Mutagenetix > Incidental Mutation

Incidental Mutation 'R5107:Scaper'

393610

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

042695-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.629) question?

Stock #

R5107 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55457163-55845403 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55487616 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 749 (S749P)

Ref Sequence

ENSEMBL: ENSMUSP00000149836 (fasta)

Gene Model

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

AlphaFold

F8VQ70

Predicted Effect

probably damaging
Transcript: ENSMUST00000037408
AA Change: S1242P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000043411
Gene: ENSMUSG00000034007
AA Change: S1242P

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: S1236P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216595
AA Change: S749P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217647
AA Change: S1242P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.6119

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.7%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	C	13: 61,001,472 (GRCm39)	N85S	possibly damaging	Het
Adgre1	A	G	17: 57,708,977 (GRCm39)	Y56C	possibly damaging	Het
Agbl5	C	A	5: 31,049,822 (GRCm39)	P257Q	probably damaging	Het
Angptl2	A	T	2: 33,118,615 (GRCm39)	M130L	probably damaging	Het
Atp6v1f	T	A	6: 29,468,198 (GRCm39)		probably null	Het
Ccdc78	G	A	17: 26,006,454 (GRCm39)	V133M	possibly damaging	Het
Clpx	A	G	9: 65,215,821 (GRCm39)	K145E	possibly damaging	Het
Col18a1	T	C	10: 76,913,057 (GRCm39)		probably null	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Igkv4-54	T	C	6: 69,608,914 (GRCm39)	I24V	possibly damaging	Het
Ikzf3	A	G	11: 98,381,302 (GRCm39)	Y93H	probably damaging	Het
Isl2	T	C	9: 55,449,570 (GRCm39)	V82A	probably benign	Het
Kcnq2	A	T	2: 180,750,340 (GRCm39)		probably benign	Het
Krt4	A	T	15: 101,831,226 (GRCm39)	M225K	possibly damaging	Het
Ksr2	T	C	5: 117,827,673 (GRCm39)	V484A	probably benign	Het
Lrba	T	A	3: 86,267,086 (GRCm39)	V1592E	possibly damaging	Het
Lrrc7	G	A	3: 157,867,533 (GRCm39)	P736L	probably damaging	Het
Mettl8	A	T	2: 70,795,901 (GRCm39)	F376I	probably damaging	Het
Muc5b	T	A	7: 141,409,268 (GRCm39)	H1117Q	unknown	Het
Myh7	T	A	14: 55,223,881 (GRCm39)		probably benign	Het
Myod1	G	T	7: 46,027,218 (GRCm39)	A228S	probably benign	Het
Ntrk1	T	C	3: 87,702,280 (GRCm39)	T58A	probably benign	Het
Or12d17	A	G	17: 37,777,144 (GRCm39)	T16A	probably damaging	Het
Pdcd11	T	A	19: 47,094,893 (GRCm39)	V559E	probably damaging	Het
Pde10a	A	G	17: 9,163,802 (GRCm39)	N191S	probably damaging	Het
Phf3	A	G	1: 30,870,566 (GRCm39)	S161P	probably benign	Het
Pias1	C	A	9: 62,789,510 (GRCm39)	A566S	probably benign	Het
Pik3c2g	T	C	6: 139,612,623 (GRCm39)		probably benign	Het
Pmp22	A	G	11: 63,049,237 (GRCm39)	E160G	probably damaging	Het
Polb	T	C	8: 23,135,062 (GRCm39)		probably null	Het
Prob1	T	C	18: 35,785,989 (GRCm39)	N755S	possibly damaging	Het
Rhou	A	T	8: 124,387,912 (GRCm39)	K215*	probably null	Het
Selenop	A	G	15: 3,305,075 (GRCm39)	E77G	probably damaging	Het
Sema3a	C	A	5: 13,627,572 (GRCm39)	S490*	probably null	Het
Slc26a2	A	G	18: 61,331,632 (GRCm39)	Y600H	probably damaging	Het
Slfn8	A	C	11: 82,907,976 (GRCm39)	I189S	probably damaging	Het
Stab1	T	A	14: 30,885,752 (GRCm39)		probably null	Het
Tbc1d13	G	A	2: 30,036,733 (GRCm39)	E205K	probably damaging	Het
Tex47	C	T	5: 7,354,842 (GRCm39)	R8W	probably benign	Het
Tmem198b	T	C	10: 128,638,156 (GRCm39)	T136A	probably benign	Het
Trim36	T	C	18: 46,305,705 (GRCm39)	Q414R	probably benign	Het
Ttc23l	G	T	15: 10,551,636 (GRCm39)	T30K	possibly damaging	Het
Ttn	A	G	2: 76,608,496 (GRCm39)	I16063T	probably damaging	Het
Ttn	A	G	2: 76,693,905 (GRCm39)	V321A	possibly damaging	Het
Ubox5	A	G	2: 130,441,688 (GRCm39)	L333P	probably damaging	Het
Vmn2r19	T	A	6: 123,286,602 (GRCm39)	Y78*	probably null	Het
Wnk4	A	G	11: 101,166,364 (GRCm39)		probably benign	Het
Xirp2	A	G	2: 67,340,054 (GRCm39)	D765G	probably damaging	Het
Xirp2	G	T	2: 67,342,205 (GRCm39)	G1482V	probably damaging	Het
Znhit1	A	G	5: 137,015,682 (GRCm39)	V2A	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
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
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'- CATACAGGACAGATGGGTTCCAG -3'
(R):5'- CCAGACTTATGCAAATTTGACATGC -3'

Sequencing Primer
(F):5'- ATGGGTTCCAGCAGGCTAG -3'
(R):5'- CAGGAACTCTGTTATTTAATGCATGC -3'

Posted On

2016-06-15