Mutagenetix > Incidental Mutation

Incidental Mutation 'R8189:Scaper'

635030

Institutional Source

Beutler Lab

Gene Symbol

Scaper

Ensembl Gene

ENSMUSG00000034007

Gene Name

S phase cyclin A-associated protein in the ER

Synonyms

D530014O03Rik, Zfp291

MMRRC Submission

067612-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.591) question?

Stock #

R8189 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55549879-55938119 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55912120 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 104 (F104I)

Ref Sequence

ENSEMBL: ENSMUSP00000043411 (fasta)

Gene Model

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

AlphaFold

F8VQ70

Predicted Effect

probably damaging
Transcript: ENSMUST00000037408
AA Change: F104I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000043411
Gene: ENSMUSG00000034007
AA Change: F104I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,285,726 (GRCm38)	I1531T	probably damaging	Het
Ankrd13d	G	A	19: 4,270,852 (GRCm38)	P516S	probably benign	Het
Bag6	A	G	17: 35,145,238 (GRCm38)		probably null	Het
BC080695	T	G	4: 143,571,960 (GRCm38)	Y158D	probably benign	Het
Cchcr1	A	G	17: 35,526,666 (GRCm38)	I422V	probably benign	Het
Ceacam1	A	G	7: 25,473,918 (GRCm38)	S282P	probably damaging	Het
Chka	G	T	19: 3,875,759 (GRCm38)	E159*	probably null	Het
Ckmt2	T	C	13: 91,855,775 (GRCm38)	Y368C	probably damaging	Het
Cngb1	TTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGG	TTCTGGCTCTGGCTCTGGCTCTGG	8: 95,303,620 (GRCm38)		probably benign	Het
Ctsq	A	G	13: 61,037,155 (GRCm38)	L239P	probably damaging	Het
D630045J12Rik	A	G	6: 38,158,171 (GRCm38)	L1358P	probably damaging	Het
Dglucy	G	A	12: 100,838,630 (GRCm38)	E127K	probably benign	Het
Dnajb8	C	T	6: 88,222,958 (GRCm38)	R159C	possibly damaging	Het
Fgd6	T	C	10: 94,074,215 (GRCm38)	L794P	probably benign	Het
Fgfr2	G	A	7: 130,172,899 (GRCm38)	T654I	probably damaging	Het
Gmeb2	G	A	2: 181,277,967 (GRCm38)	T38M	probably damaging	Het
Gria1	T	C	11: 57,217,799 (GRCm38)	F243L	probably benign	Het
Gria2	A	T	3: 80,722,182 (GRCm38)	D244E	probably damaging	Het
Ints2	T	A	11: 86,215,570 (GRCm38)	I1005F	probably damaging	Het
Ipo11	T	A	13: 106,925,096 (GRCm38)	S19C	probably damaging	Het
Kmt2b	A	G	7: 30,569,331 (GRCm38)	F2658L	probably damaging	Het
Lrrc38	G	A	4: 143,350,733 (GRCm38)	G189R	probably damaging	Het
Mcf2l	A	G	8: 12,963,164 (GRCm38)	D27G	probably damaging	Het
Mrgprb2	G	T	7: 48,552,754 (GRCm38)	Y74*	probably null	Het
Nrcam	C	A	12: 44,570,508 (GRCm38)	P740T	possibly damaging	Het
Nrxn1	C	T	17: 90,704,209 (GRCm38)	V331I	probably damaging	Het
Olfr1293-ps	T	C	2: 111,527,773 (GRCm38)	V153A		Het
Olfr172	T	A	16: 58,760,925 (GRCm38)	N84Y	probably damaging	Het
Olfr47	T	C	6: 43,236,079 (GRCm38)	V157A	probably benign	Het
Olfr472	A	G	7: 107,902,732 (GRCm38)	N5S	probably damaging	Het
Olfr792	T	A	10: 129,541,253 (GRCm38)	C239S	probably damaging	Het
Pla2g4a	A	G	1: 149,857,586 (GRCm38)	F479L	probably benign	Het
Serpinb3c	A	T	1: 107,276,309 (GRCm38)	C58S	probably benign	Het
Setdb1	A	G	3: 95,346,711 (GRCm38)	V260A	probably damaging	Het
Shank3	A	G	15: 89,549,236 (GRCm38)	T1395A	probably benign	Het
Skiv2l2	T	A	13: 112,891,981 (GRCm38)	R628S	possibly damaging	Het
Slc35b4	A	G	6: 34,167,635 (GRCm38)	I95T	probably damaging	Het
Trpm5	A	G	7: 143,081,838 (GRCm38)	V599A	probably benign	Het
Ttk	A	G	9: 83,847,219 (GRCm38)	S352G	probably benign	Het
Ugt2b35	T	A	5: 87,001,443 (GRCm38)	S184R	probably damaging	Het
Usp17le	C	T	7: 104,769,348 (GRCm38)	D196N	probably damaging	Het
Vmn2r15	A	G	5: 109,286,847 (GRCm38)	F664L	probably benign	Het
Vmn2r94	A	T	17: 18,258,356 (GRCm38)	L43Q	probably damaging	Het

Other mutations in Scaper

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00653:Scaper	APN	9	55,859,859 (GRCm38)	missense	probably damaging	0.99
IGL00912:Scaper	APN	9	55,685,955 (GRCm38)	missense	probably damaging	1.00
IGL01469:Scaper	APN	9	55,859,767 (GRCm38)	missense	probably damaging	1.00
IGL01626:Scaper	APN	9	55,912,051 (GRCm38)	missense	possibly damaging	0.61
IGL01779:Scaper	APN	9	55,892,240 (GRCm38)	missense	probably benign	0.20
IGL02011:Scaper	APN	9	55,580,322 (GRCm38)	missense	probably damaging	1.00
IGL02997:Scaper	APN	9	55,815,499 (GRCm38)	missense	probably damaging	1.00
IGL03107:Scaper	APN	9	55,858,402 (GRCm38)	splice site	probably benign
IGL03167:Scaper	APN	9	55,859,824 (GRCm38)	missense	probably damaging	1.00
IGL03293:Scaper	APN	9	55,874,823 (GRCm38)	missense	probably benign
IGL03340:Scaper	APN	9	55,602,832 (GRCm38)	missense	possibly damaging	0.88
IGL03368:Scaper	APN	9	55,656,027 (GRCm38)	missense	possibly damaging	0.53
R0111:Scaper	UTSW	9	55,602,790 (GRCm38)	missense	probably benign	0.01
R0510:Scaper	UTSW	9	55,758,062 (GRCm38)	splice site	probably benign
R0531:Scaper	UTSW	9	55,609,874 (GRCm38)	missense	possibly damaging	0.91
R0558:Scaper	UTSW	9	55,685,923 (GRCm38)	missense	probably benign	0.08
R0605:Scaper	UTSW	9	55,815,518 (GRCm38)	splice site	probably benign
R0646:Scaper	UTSW	9	55,758,056 (GRCm38)	missense	probably damaging	1.00
R0837:Scaper	UTSW	9	55,859,042 (GRCm38)	nonsense	probably null
R1440:Scaper	UTSW	9	55,602,918 (GRCm38)	nonsense	probably null
R1548:Scaper	UTSW	9	55,816,670 (GRCm38)	missense	probably damaging	1.00
R1777:Scaper	UTSW	9	55,864,546 (GRCm38)	missense	probably benign	0.33
R1822:Scaper	UTSW	9	55,859,900 (GRCm38)	missense	probably damaging	0.99
R1834:Scaper	UTSW	9	55,816,734 (GRCm38)	missense	possibly damaging	0.90
R1870:Scaper	UTSW	9	55,685,938 (GRCm38)	missense	probably damaging	1.00
R2102:Scaper	UTSW	9	55,912,050 (GRCm38)	missense	probably benign	0.43
R2168:Scaper	UTSW	9	55,743,639 (GRCm38)	missense	probably damaging	1.00
R2174:Scaper	UTSW	9	55,859,037 (GRCm38)	missense	probably null	0.01
R3690:Scaper	UTSW	9	55,883,921 (GRCm38)	missense	probably benign	0.00
R4392:Scaper	UTSW	9	55,858,115 (GRCm38)	missense	probably damaging	0.99
R4418:Scaper	UTSW	9	55,838,180 (GRCm38)	missense	probably damaging	1.00
R4606:Scaper	UTSW	9	55,655,903 (GRCm38)	critical splice donor site	probably null
R4643:Scaper	UTSW	9	55,838,179 (GRCm38)	missense	probably damaging	0.99
R4665:Scaper	UTSW	9	55,912,055 (GRCm38)	missense	probably damaging	1.00
R4739:Scaper	UTSW	9	55,743,648 (GRCm38)	missense	probably damaging	1.00
R4921:Scaper	UTSW	9	55,892,235 (GRCm38)	missense	probably benign	0.02
R4934:Scaper	UTSW	9	55,809,175 (GRCm38)	missense	probably damaging	1.00
R4956:Scaper	UTSW	9	55,838,142 (GRCm38)	missense	probably damaging	1.00
R5055:Scaper	UTSW	9	55,859,719 (GRCm38)	splice site	probably null
R5107:Scaper	UTSW	9	55,580,332 (GRCm38)	missense	probably damaging	1.00
R5155:Scaper	UTSW	9	55,556,086 (GRCm38)	missense	probably null	1.00
R5265:Scaper	UTSW	9	55,864,546 (GRCm38)	missense	probably benign
R5408:Scaper	UTSW	9	55,586,224 (GRCm38)	missense	probably damaging	0.99
R5623:Scaper	UTSW	9	55,864,507 (GRCm38)	missense	probably benign	0.02
R5665:Scaper	UTSW	9	55,807,632 (GRCm38)	missense	probably damaging	1.00
R5748:Scaper	UTSW	9	55,859,076 (GRCm38)	critical splice acceptor site	probably null
R5771:Scaper	UTSW	9	55,816,791 (GRCm38)	missense	probably damaging	1.00
R6534:Scaper	UTSW	9	55,883,976 (GRCm38)	missense	probably benign	0.00
R6557:Scaper	UTSW	9	55,550,850 (GRCm38)	missense	probably benign	0.02
R6651:Scaper	UTSW	9	55,858,504 (GRCm38)	missense	probably benign	0.05
R6796:Scaper	UTSW	9	55,864,427 (GRCm38)	missense	probably benign	0.00
R6962:Scaper	UTSW	9	55,859,771 (GRCm38)	missense	probably benign	0.01
R7145:Scaper	UTSW	9	55,912,111 (GRCm38)	missense	unknown
R7199:Scaper	UTSW	9	55,838,176 (GRCm38)	nonsense	probably null
R7356:Scaper	UTSW	9	55,892,211 (GRCm38)	missense	unknown
R7426:Scaper	UTSW	9	55,762,277 (GRCm38)	nonsense	probably null
R7503:Scaper	UTSW	9	55,807,754 (GRCm38)	missense	probably damaging	0.98
R7844:Scaper	UTSW	9	55,815,448 (GRCm38)	missense	probably benign	0.04
R7966:Scaper	UTSW	9	55,762,327 (GRCm38)	missense	probably damaging	0.98
R7992:Scaper	UTSW	9	55,858,154 (GRCm38)	missense	probably benign	0.02
R8081:Scaper	UTSW	9	55,916,046 (GRCm38)	missense	unknown
R8294:Scaper	UTSW	9	55,609,996 (GRCm38)	missense	possibly damaging	0.62
R8351:Scaper	UTSW	9	55,816,804 (GRCm38)	missense	possibly damaging	0.92
R8451:Scaper	UTSW	9	55,816,804 (GRCm38)	missense	possibly damaging	0.92
R8473:Scaper	UTSW	9	55,550,847 (GRCm38)	missense	probably damaging	1.00
R8476:Scaper	UTSW	9	55,762,291 (GRCm38)	missense	probably damaging	1.00
R8504:Scaper	UTSW	9	55,864,438 (GRCm38)	missense	probably benign
R9058:Scaper	UTSW	9	55,815,478 (GRCm38)	missense	probably damaging	1.00
R9071:Scaper	UTSW	9	55,864,519 (GRCm38)	missense	probably benign
R9099:Scaper	UTSW	9	55,762,332 (GRCm38)	missense	probably damaging	0.98
R9104:Scaper	UTSW	9	55,912,116 (GRCm38)	missense	unknown
R9516:Scaper	UTSW	9	55,685,991 (GRCm38)	missense	probably benign	0.05
R9685:Scaper	UTSW	9	55,864,551 (GRCm38)	missense	probably benign	0.10
X0012:Scaper	UTSW	9	55,655,930 (GRCm38)	missense	probably damaging	0.98
X0052:Scaper	UTSW	9	55,816,664 (GRCm38)	missense	probably damaging	1.00
Z1176:Scaper	UTSW	9	55,556,248 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCAGGGGTTAAAAGAACAATCCTC -3'
(R):5'- CTGCCTCGTTTAGGGAAGAC -3'

Sequencing Primer
(F):5'- GGGGTTAAAAGAACAATCCTCATTAC -3'
(R):5'- GATGAATTCAAGTGTGGTATAAGCTG -3'

Posted On

2020-07-13