Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R2912 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

10895570-10900075 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 10896614 bp (GRCm39)

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: 69,020,866 (GRCm39)	K197M	probably damaging	Het
Asxl2	A	G	12: 3,524,517 (GRCm39)	K182E	probably benign	Het
Birc6	A	G	17: 74,999,201 (GRCm39)	D4643G	probably damaging	Het
Bmpr1b	T	C	3: 141,586,139 (GRCm39)	D41G	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Creb3l1	T	C	2: 91,817,398 (GRCm39)	T372A	possibly damaging	Het
Dbn1	A	G	13: 55,630,234 (GRCm39)	F45L	probably damaging	Het
Dhx29	A	G	13: 113,072,109 (GRCm39)	E251G	probably damaging	Het
Dnajc27	C	T	12: 4,146,280 (GRCm39)	S103L	probably damaging	Het
Dync1li1	T	G	9: 114,544,743 (GRCm39)	N348K	probably benign	Het
Emc1	T	C	4: 139,092,571 (GRCm39)	S504P	possibly damaging	Het
F5	A	G	1: 164,021,488 (GRCm39)	D1321G	probably damaging	Het
Garin4	T	C	1: 190,895,425 (GRCm39)	N406S	probably benign	Het
Gpr157	G	A	4: 150,183,222 (GRCm39)	V131I	probably benign	Het
Hprt1	T	C	X: 52,109,016 (GRCm39)	Y174H	probably damaging	Het
Kcnq2	A	G	2: 180,723,567 (GRCm39)	V603A	probably damaging	Het
Lama2	T	C	10: 26,876,799 (GRCm39)	S2716G	probably benign	Het
Lax1	A	G	1: 133,611,791 (GRCm39)	V48A	possibly damaging	Het
Macf1	T	A	4: 123,369,704 (GRCm39)	I121F	probably damaging	Het
Med17	A	G	9: 15,187,210 (GRCm39)	L188P	probably damaging	Het
Mfsd5	A	G	15: 102,189,743 (GRCm39)	T372A	probably benign	Het
Mrgprb5	T	C	7: 47,817,815 (GRCm39)	S307G	probably benign	Het
Mroh9	T	C	1: 162,871,572 (GRCm39)	Y637C	probably damaging	Het
Nherf2	C	T	17: 24,861,215 (GRCm39)	G71S	probably damaging	Het
Nktr	T	C	9: 121,578,670 (GRCm39)		probably benign	Het
Nrg1	A	G	8: 32,308,595 (GRCm39)	S474P	probably damaging	Het
Nup210	T	G	6: 91,003,956 (GRCm39)	D644A	probably damaging	Het
Or10ak7	A	G	4: 118,791,898 (GRCm39)	I47T	probably benign	Het
Or4c11	A	T	2: 88,695,458 (GRCm39)	N170Y	probably benign	Het
Or5j3	A	G	2: 86,128,733 (GRCm39)	D191G	probably damaging	Het
Or8g34	T	C	9: 39,373,512 (GRCm39)	Y259H	probably damaging	Het
Panx2	A	G	15: 88,954,024 (GRCm39)	I660V	probably benign	Het
Pramel13	T	C	4: 144,119,304 (GRCm39)	E421G	probably damaging	Het
Prx	C	T	7: 27,215,654 (GRCm39)	P52S	probably damaging	Het
Ptprf	A	G	4: 118,106,177 (GRCm39)	S206P	probably damaging	Het
Rbm45	C	T	2: 76,205,798 (GRCm39)	P217S	probably benign	Het
Rfx6	A	G	10: 51,594,226 (GRCm39)	D382G	probably damaging	Het
Ric3	A	G	7: 108,653,660 (GRCm39)	F144L	possibly damaging	Het
Snx29	C	T	16: 11,265,317 (GRCm39)	R516W	probably damaging	Het
Trank1	T	C	9: 111,221,551 (GRCm39)	S2763P	probably damaging	Het
Vmn1r42	T	C	6: 89,821,688 (GRCm39)	M294V	probably benign	Het
Zfp467	C	A	6: 48,416,010 (GRCm39)	R214L	possibly damaging	Het
Zfp750	C	A	11: 121,403,153 (GRCm39)	A532S	probably benign	Het

Other mutations in Zscan4d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00518:Zscan4d	APN	7	10,896,281 (GRCm39)	missense	probably benign	0.00
IGL01576:Zscan4d	APN	7	10,896,519 (GRCm39)	missense	possibly damaging	0.91
IGL01926:Zscan4d	APN	7	10,898,921 (GRCm39)	missense	probably damaging	0.98
IGL02008:Zscan4d	APN	7	10,896,296 (GRCm39)	missense	probably benign	0.00
IGL02245:Zscan4d	APN	7	10,896,716 (GRCm39)	missense	probably benign
IGL02473:Zscan4d	APN	7	10,896,336 (GRCm39)	missense	probably benign	0.04
IGL02805:Zscan4d	APN	7	10,898,897 (GRCm39)	splice site	probably benign
IGL03010:Zscan4d	APN	7	10,897,070 (GRCm39)	missense	probably damaging	0.98
IGL03383:Zscan4d	APN	7	10,896,692 (GRCm39)	missense	probably benign	0.07
R0626:Zscan4d	UTSW	7	10,898,946 (GRCm39)	missense	probably damaging	0.97
R1084:Zscan4d	UTSW	7	10,898,932 (GRCm39)	missense	probably damaging	0.99
R1457:Zscan4d	UTSW	7	10,898,921 (GRCm39)	missense	probably damaging	0.98
R2426:Zscan4d	UTSW	7	10,899,022 (GRCm39)	missense	probably damaging	0.99
R3736:Zscan4d	UTSW	7	10,896,803 (GRCm39)	missense	probably benign
R4379:Zscan4d	UTSW	7	10,898,905 (GRCm39)	missense	probably benign
R4580:Zscan4d	UTSW	7	10,896,435 (GRCm39)	missense	probably benign	0.00
R4765:Zscan4d	UTSW	7	10,896,594 (GRCm39)	missense	probably benign	0.08
R4975:Zscan4d	UTSW	7	10,899,274 (GRCm39)	start codon destroyed	probably null	0.02
R6452:Zscan4d	UTSW	7	10,895,999 (GRCm39)	missense	probably damaging	0.98
R6570:Zscan4d	UTSW	7	10,895,927 (GRCm39)	missense	possibly damaging	0.92
R6680:Zscan4d	UTSW	7	10,896,366 (GRCm39)	missense	possibly damaging	0.85
R7726:Zscan4d	UTSW	7	10,899,169 (GRCm39)	missense	possibly damaging	0.65
R7772:Zscan4d	UTSW	7	10,896,770 (GRCm39)	missense	probably benign	0.28
R8282:Zscan4d	UTSW	7	10,896,369 (GRCm39)	missense	possibly damaging	0.91
R8320:Zscan4d	UTSW	7	10,799,942 (GRCm39)	missense	probably benign	0.00
R9671:Zscan4d	UTSW	7	10,898,945 (GRCm39)	missense	probably damaging	0.97
R9770:Zscan4d	UTSW	7	10,896,036 (GRCm39)	missense	probably benign	0.33

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