Mutagenetix > Incidental Mutations

Incidental Mutation 'R2912:Zscan4d'

261301

Institutional Source

Beutler Lab

Gene Symbol

Zscan4d

Ensembl Gene

ENSMUSG00000090714

Gene Name

zinc finger and SCAN domain containing 4D

Synonyms

EG545913

MMRRC Submission

040499-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R2912 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11161374-11166159 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 11162687 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 252 (P252L)

Ref Sequence

ENSEMBL: ENSMUSP00000066504 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067210] [ENSMUST00000165848]

AlphaFold

A7KBS4

Predicted Effect

probably benign
Transcript: ENSMUST00000067210
AA Change: P252L

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

SMART Domains

Protein: ENSMUSP00000066504
Gene: ENSMUSG00000090714
AA Change: P252L

Domain	Start	End	E-Value	Type
Pfam:SCAN	39	126	2.5e-19	PFAM
low complexity region	181	197	N/A	INTRINSIC
ZnF_C2H2	395	417	5.14e-3	SMART
ZnF_C2H2	424	446	7.68e0	SMART
ZnF_C2H2	452	474	4.17e-3	SMART
ZnF_C2H2	480	503	3.83e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165848
AA Change: P252L

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

SMART Domains

Protein: ENSMUSP00000131258
Gene: ENSMUSG00000110103
AA Change: P252L

Domain	Start	End	E-Value	Type
Pfam:SCAN	43	122	1.3e-17	PFAM
low complexity region	181	197	N/A	INTRINSIC
ZnF_C2H2	395	417	5.14e-3	SMART
ZnF_C2H2	424	446	7.68e0	SMART
ZnF_C2H2	452	474	4.17e-3	SMART
ZnF_C2H2	480	503	3.83e-2	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aloxe3	A	T	11: 69,130,040	K197M	probably damaging	Het
Asxl2	A	G	12: 3,474,517	K182E	probably benign	Het
Birc6	A	G	17: 74,692,206	D4643G	probably damaging	Het
Bmpr1b	T	C	3: 141,880,378	D41G	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Creb3l1	T	C	2: 91,987,053	T372A	possibly damaging	Het
Dbn1	A	G	13: 55,482,421	F45L	probably damaging	Het
Dhx29	A	G	13: 112,935,575	E251G	probably damaging	Het
Dnajc27	C	T	12: 4,096,280	S103L	probably damaging	Het
Dync1li1	T	G	9: 114,715,675	N348K	probably benign	Het
Emc1	T	C	4: 139,365,260	S504P	possibly damaging	Het
F5	A	G	1: 164,193,919	D1321G	probably damaging	Het
Fam71a	T	C	1: 191,163,228	N406S	probably benign	Het
Gpr157	G	A	4: 150,098,765	V131I	probably benign	Het
Hprt	T	C	X: 53,020,139	Y174H	probably damaging	Het
Kcnq2	A	G	2: 181,081,774	V603A	probably damaging	Het
Lama2	T	C	10: 27,000,803	S2716G	probably benign	Het
Lax1	A	G	1: 133,684,053	V48A	possibly damaging	Het
Macf1	T	A	4: 123,475,911	I121F	probably damaging	Het
Med17	A	G	9: 15,275,914	L188P	probably damaging	Het
Mfsd5	A	G	15: 102,281,308	T372A	probably benign	Het
Mrgprb5	T	C	7: 48,168,067	S307G	probably benign	Het
Mroh9	T	C	1: 163,044,003	Y637C	probably damaging	Het
Nktr	T	C	9: 121,749,604		probably benign	Het
Nrg1	A	G	8: 31,818,567	S474P	probably damaging	Het
Nup210	T	G	6: 91,026,974	D644A	probably damaging	Het
Olfr1052	A	G	2: 86,298,389	D191G	probably damaging	Het
Olfr1206	A	T	2: 88,865,114	N170Y	probably benign	Het
Olfr1328	A	G	4: 118,934,701	I47T	probably benign	Het
Olfr954	T	C	9: 39,462,216	Y259H	probably damaging	Het
Panx2	A	G	15: 89,069,821	I660V	probably benign	Het
Pramef12	T	C	4: 144,392,734	E421G	probably damaging	Het
Prx	C	T	7: 27,516,229	P52S	probably damaging	Het
Ptprf	A	G	4: 118,248,980	S206P	probably damaging	Het
Rbm45	C	T	2: 76,375,454	P217S	probably benign	Het
Rfx6	A	G	10: 51,718,130	D382G	probably damaging	Het
Ric3	A	G	7: 109,054,453	F144L	possibly damaging	Het
Slc9a3r2	C	T	17: 24,642,241	G71S	probably damaging	Het
Snx29	C	T	16: 11,447,453	R516W	probably damaging	Het
Trank1	T	C	9: 111,392,483	S2763P	probably damaging	Het
Vmn1r42	T	C	6: 89,844,706	M294V	probably benign	Het
Zfp467	C	A	6: 48,439,076	R214L	possibly damaging	Het
Zfp750	C	A	11: 121,512,327	A532S	probably benign	Het

Other mutations in Zscan4d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00518:Zscan4d	APN	7	11162354	missense	probably benign	0.00
IGL01576:Zscan4d	APN	7	11162592	missense	possibly damaging	0.91
IGL01926:Zscan4d	APN	7	11164994	missense	probably damaging	0.98
IGL02008:Zscan4d	APN	7	11162369	missense	probably benign	0.00
IGL02245:Zscan4d	APN	7	11162789	missense	probably benign
IGL02473:Zscan4d	APN	7	11162409	missense	probably benign	0.04
IGL02805:Zscan4d	APN	7	11164970	splice site	probably benign
IGL03010:Zscan4d	APN	7	11163143	missense	probably damaging	0.98
IGL03383:Zscan4d	APN	7	11162765	missense	probably benign	0.07
R0626:Zscan4d	UTSW	7	11165019	missense	probably damaging	0.97
R1084:Zscan4d	UTSW	7	11165005	missense	probably damaging	0.99
R1457:Zscan4d	UTSW	7	11164994	missense	probably damaging	0.98
R2426:Zscan4d	UTSW	7	11165095	missense	probably damaging	0.99
R3736:Zscan4d	UTSW	7	11162876	missense	probably benign
R4379:Zscan4d	UTSW	7	11164978	missense	probably benign
R4580:Zscan4d	UTSW	7	11162508	missense	probably benign	0.00
R4765:Zscan4d	UTSW	7	11162667	missense	probably benign	0.08
R4975:Zscan4d	UTSW	7	11165347	start codon destroyed	probably null	0.02
R6452:Zscan4d	UTSW	7	11162072	missense	probably damaging	0.98
R6570:Zscan4d	UTSW	7	11162000	missense	possibly damaging	0.92
R6680:Zscan4d	UTSW	7	11162439	missense	possibly damaging	0.85
R7726:Zscan4d	UTSW	7	11165242	missense	possibly damaging	0.65
R7772:Zscan4d	UTSW	7	11162843	missense	probably benign	0.28
R8282:Zscan4d	UTSW	7	11162442	missense	possibly damaging	0.91
R8320:Zscan4d	UTSW	7	11066015	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGGAATATCTCCCTCCTCAGGC -3'
(R):5'- GCAACAACTCTTGTAATGCTACTG -3'

Sequencing Primer
(F):5'- CTCCTCAGGCTCAGAATGATATATTC -3'
(R):5'- CTACTGAAGCAAATGTTGGTGAAAGC -3'

Posted On

2015-01-23