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

Zfp291, D530014O03Rik

MMRRC Submission

067612-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.629) question?

Stock #

R8189 (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 55819404 bp (GRCm39)

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: 71,324,885 (GRCm39)	I1531T	probably damaging	Het
Ankrd13d	G	A	19: 4,320,880 (GRCm39)	P516S	probably benign	Het
Bag6	A	G	17: 35,364,214 (GRCm39)		probably null	Het
Cchcr1	A	G	17: 35,837,563 (GRCm39)	I422V	probably benign	Het
Ceacam1	A	G	7: 25,173,343 (GRCm39)	S282P	probably damaging	Het
Chka	G	T	19: 3,925,759 (GRCm39)	E159*	probably null	Het
Ckmt2	T	C	13: 92,003,894 (GRCm39)	Y368C	probably damaging	Het
Cngb1	TTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGG	TTCTGGCTCTGGCTCTGGCTCTGG	8: 96,030,248 (GRCm39)		probably benign	Het
Ctsq	A	G	13: 61,184,969 (GRCm39)	L239P	probably damaging	Het
D630045J12Rik	A	G	6: 38,135,106 (GRCm39)	L1358P	probably damaging	Het
Dglucy	G	A	12: 100,804,889 (GRCm39)	E127K	probably benign	Het
Dnajb8	C	T	6: 88,199,940 (GRCm39)	R159C	possibly damaging	Het
Fgd6	T	C	10: 93,910,077 (GRCm39)	L794P	probably benign	Het
Fgfr2	G	A	7: 129,774,629 (GRCm39)	T654I	probably damaging	Het
Gmeb2	G	A	2: 180,919,760 (GRCm39)	T38M	probably damaging	Het
Gria1	T	C	11: 57,108,625 (GRCm39)	F243L	probably benign	Het
Gria2	A	T	3: 80,629,489 (GRCm39)	D244E	probably damaging	Het
Ints2	T	A	11: 86,106,396 (GRCm39)	I1005F	probably damaging	Het
Ipo11	T	A	13: 107,061,604 (GRCm39)	S19C	probably damaging	Het
Kmt2b	A	G	7: 30,268,756 (GRCm39)	F2658L	probably damaging	Het
Lrrc38	G	A	4: 143,077,303 (GRCm39)	G189R	probably damaging	Het
Mcf2l	A	G	8: 13,013,164 (GRCm39)	D27G	probably damaging	Het
Mrgprb2	G	T	7: 48,202,502 (GRCm39)	Y74*	probably null	Het
Mtrex	T	A	13: 113,028,515 (GRCm39)	R628S	possibly damaging	Het
Nrcam	C	A	12: 44,617,291 (GRCm39)	P740T	possibly damaging	Het
Nrxn1	C	T	17: 91,011,637 (GRCm39)	V331I	probably damaging	Het
Or2a57	T	C	6: 43,213,013 (GRCm39)	V157A	probably benign	Het
Or4f17-ps1	T	C	2: 111,358,118 (GRCm39)	V153A		Het
Or5k1b	T	A	16: 58,581,288 (GRCm39)	N84Y	probably damaging	Het
Or5p52	A	G	7: 107,501,939 (GRCm39)	N5S	probably damaging	Het
Or6c66b	T	A	10: 129,377,122 (GRCm39)	C239S	probably damaging	Het
Pla2g4a	A	G	1: 149,733,337 (GRCm39)	F479L	probably benign	Het
Pramel20	T	G	4: 143,298,530 (GRCm39)	Y158D	probably benign	Het
Serpinb3c	A	T	1: 107,204,039 (GRCm39)	C58S	probably benign	Het
Setdb1	A	G	3: 95,254,022 (GRCm39)	V260A	probably damaging	Het
Shank3	A	G	15: 89,433,439 (GRCm39)	T1395A	probably benign	Het
Slc35b4	A	G	6: 34,144,570 (GRCm39)	I95T	probably damaging	Het
Trpm5	A	G	7: 142,635,575 (GRCm39)	V599A	probably benign	Het
Ttk	A	G	9: 83,729,272 (GRCm39)	S352G	probably benign	Het
Ugt2b35	T	A	5: 87,149,302 (GRCm39)	S184R	probably damaging	Het
Usp17le	C	T	7: 104,418,555 (GRCm39)	D196N	probably damaging	Het
Vmn2r15	A	G	5: 109,434,713 (GRCm39)	F664L	probably benign	Het
Vmn2r94	A	T	17: 18,478,618 (GRCm39)	L43Q	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
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
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'- AGCAGGGGTTAAAAGAACAATCCTC -3'
(R):5'- CTGCCTCGTTTAGGGAAGAC -3'

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

Posted On

2020-07-13