Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01576:Zscan4d'

91248

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zscan4d

Ensembl Gene

ENSMUSG00000090714

Gene Name

zinc finger and SCAN domain containing 4D

Synonyms

EG545913

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

IGL01576

Quality Score

Status

Chromosome

Chromosomal Location

11161374-11166159 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11162592 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 284 (N284D)

Ref Sequence

ENSEMBL: ENSMUSP00000066504 (fasta)

Gene Model

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

AlphaFold

A7KBS4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067210
AA Change: N284D

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000066504
Gene: ENSMUSG00000090714
AA Change: N284D

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: N284D

PolyPhen 2 Score 0.040 (Sensitivity: 0.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000131258
Gene: ENSMUSG00000110103
AA Change: N284D

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,554,330		probably benign	Het
Ank3	A	G	10: 69,980,291	E541G	probably damaging	Het
Arhgef5	A	T	6: 43,274,028	D571V	probably benign	Het
Birc6	A	G	17: 74,677,370	N4459S	possibly damaging	Het
Brsk2	T	C	7: 141,981,555	I38T	possibly damaging	Het
Cacna2d4	A	T	6: 119,281,641	R563*	probably null	Het
Car7	T	A	8: 104,549,548		probably null	Het
Chml	T	C	1: 175,687,705	T217A	probably benign	Het
Dnah7b	T	G	1: 46,268,653	N3042K	probably damaging	Het
Efcab2	T	G	1: 178,437,392		probably benign	Het
Espn	T	C	4: 152,123,717	E397G	probably damaging	Het
Fam20c	A	G	5: 138,807,339	T443A	probably damaging	Het
Fam221b	T	C	4: 43,666,227	E128G	probably benign	Het
Fat4	A	G	3: 38,888,947	D663G	probably damaging	Het
Fndc10	T	A	4: 155,694,976	V159D	probably benign	Het
Gm14496	A	G	2: 181,991,371	Y49C	possibly damaging	Het
Gpr63	G	T	4: 25,008,445	D390Y	possibly damaging	Het
Herc2	G	A	7: 56,226,661		probably null	Het
Igdcc3	A	G	9: 65,177,870	T199A	probably damaging	Het
Ireb2	T	C	9: 54,892,510	Y412H	probably damaging	Het
Lpin3	T	C	2: 160,897,127	V285A	probably benign	Het
Mdga1	T	C	17: 29,843,127	S443G	possibly damaging	Het
Med22	C	T	2: 26,908,992		probably null	Het
Mpp6	G	A	6: 50,163,492	R164Q	probably benign	Het
Olfr1356	G	T	10: 78,847,373	L181I	possibly damaging	Het
Pcnt	T	G	10: 76,368,822	D2583A	probably damaging	Het
Pkn3	G	A	2: 30,087,042	R598Q	probably damaging	Het
Pnpla7	T	C	2: 25,016,563	V646A	probably damaging	Het
Podxl	A	T	6: 31,524,384	V412D	probably damaging	Het
Rad51ap1	A	T	6: 126,928,160	S129R	probably damaging	Het
Relb	T	C	7: 19,612,601	I349V	probably benign	Het
Rorb	C	T	19: 18,957,334	G224D	probably damaging	Het
Slc40a1	T	A	1: 45,909,597	I508F	probably damaging	Het
Tanc1	G	A	2: 59,797,735	V619M	probably damaging	Het
Tgm7	A	T	2: 121,101,033	D216E	probably damaging	Het
Tmem132e	A	G	11: 82,438,374	D493G	probably damaging	Het
Zfp110	T	A	7: 12,849,671	C749S	probably damaging	Het

Other mutations in Zscan4d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00518:Zscan4d	APN	7	11162354	missense	probably benign	0.00
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
R2912:Zscan4d	UTSW	7	11162687	missense	probably benign
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
R9671:Zscan4d	UTSW	7	11165018	missense	probably damaging	0.97
R9770:Zscan4d	UTSW	7	11162109	missense	probably benign	0.33

Posted On

2013-12-09