Mutagenetix > Incidental Mutation

Incidental Mutation 'R6534:Scaper'

520291

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

044660-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.713) question?

Stock #

R6534 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55457163-55845403 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55791260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 213 (C213S)

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: C213S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000043411
Gene: ENSMUSG00000034007
AA Change: C213S

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: C213S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

unknown
Transcript: ENSMUST00000216595
AA Change: C213S

Predicted Effect

probably benign
Transcript: ENSMUST00000217647
AA Change: C213S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer3	A	T	7: 97,875,655 (GRCm39)	L142M	probably benign	Het
Adgrb2	T	C	4: 129,916,012 (GRCm39)	F1435L	probably damaging	Het
Anapc13	T	C	9: 102,511,292 (GRCm39)	L60P	probably damaging	Het
Apaf1	T	C	10: 90,891,862 (GRCm39)	D497G	probably damaging	Het
Arpc1b	A	T	5: 145,059,377 (GRCm39)	I34F	probably damaging	Het
Atp2a2	A	T	5: 122,595,261 (GRCm39)	W1030R	possibly damaging	Het
Cdk5rap2	T	C	4: 70,273,050 (GRCm39)	E241G	probably damaging	Het
Cyp4a14	T	A	4: 115,347,156 (GRCm39)		probably null	Het
Ddx10	A	G	9: 53,134,988 (GRCm39)	Y399H	probably damaging	Het
Dnah9	T	C	11: 65,846,074 (GRCm39)	E2988G	probably damaging	Het
Dock10	T	C	1: 80,481,388 (GRCm39)	I536M	probably benign	Het
Drc7	T	C	8: 95,797,910 (GRCm39)	Y443H	probably damaging	Het
Ecel1	A	G	1: 87,082,564 (GRCm39)	S50P	probably benign	Het
Esco1	T	A	18: 10,594,794 (GRCm39)	Q164L	possibly damaging	Het
Exosc7	A	G	9: 122,961,077 (GRCm39)	D248G	probably benign	Het
Galnt3	A	G	2: 65,932,875 (GRCm39)	L201P	probably damaging	Het
Hand2	C	A	8: 57,775,071 (GRCm39)	H44N	probably benign	Het
Kcnq1	C	T	7: 142,748,064 (GRCm39)	P411S	probably benign	Het
Lonp2	A	G	8: 87,443,086 (GRCm39)	D429G	probably benign	Het
Magi3	A	G	3: 103,992,536 (GRCm39)	I312T	possibly damaging	Het
Mansc4	A	T	6: 146,988,371 (GRCm39)	I31N	probably damaging	Het
Mill2	T	A	7: 18,590,521 (GRCm39)	D200E	possibly damaging	Het
Or5d47	G	A	2: 87,804,385 (GRCm39)	A208V	probably benign	Het
Pde4d	A	G	13: 109,769,435 (GRCm39)	K41R	probably benign	Het
Pik3r5	G	A	11: 68,381,443 (GRCm39)	D210N	possibly damaging	Het
Plcl1	C	T	1: 55,735,907 (GRCm39)	T416I	probably damaging	Het
Plekhd1	T	C	12: 80,754,031 (GRCm39)	Y166H	probably damaging	Het
Prrc1	A	G	18: 57,522,346 (GRCm39)	T393A	probably damaging	Het
Sfxn4	T	C	19: 60,827,461 (GRCm39)	I298V	probably damaging	Het
Slc36a2	A	T	11: 55,075,693 (GRCm39)	D31E	probably benign	Het
Stra6l	G	A	4: 45,860,041 (GRCm39)		probably null	Het
Tnpo3	A	T	6: 29,572,702 (GRCm39)		probably null	Het
Tonsl	A	G	15: 76,513,877 (GRCm39)	Y1231H	probably damaging	Het
Ush2a	C	A	1: 188,183,999 (GRCm39)	Y1434*	probably null	Het
Zfp69	T	C	4: 120,788,394 (GRCm39)	Y307C	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
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
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'- CCCTTTCTAACTATAGGCAGCTAAAAC -3'
(R):5'- TGCTTAGAAGAAGGAGCAGTTTTAG -3'

Sequencing Primer
(F):5'- GTCATTGGTGCACAGGAT -3'
(R):5'- CAGTTTTAGTAGTGACTGAGTCAAG -3'

Posted On

2018-06-06