Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01926:Zscan4d'

180287

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: 0.143) question?

Stock #

IGL01926

Quality Score

Status

Chromosome

Chromosomal Location

11161374-11166159 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11164994 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 119 (C119R)

Ref Sequence

ENSEMBL: ENSMUSP00000066504 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000067210
AA Change: C119R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000066504
Gene: ENSMUSG00000090714
AA Change: C119R

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: C119R

PolyPhen 2 Score 0.210 (Sensitivity: 0.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000131258
Gene: ENSMUSG00000110103
AA Change: C119R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209835

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	C	T	11: 110,135,329		probably benign	Het
Ano1	C	T	7: 144,610,875	V671M	possibly damaging	Het
Atf7ip2	G	T	16: 10,241,885	D430Y	probably damaging	Het
Atp7b	A	T	8: 22,011,781	D740E	probably damaging	Het
Bbs1	A	C	19: 4,902,863	S191A	probably benign	Het
Capn5	C	T	7: 98,128,472		probably null	Het
Cyp2c40	A	G	19: 39,802,655	I244T	probably benign	Het
Dsg1a	G	T	18: 20,333,584	D504Y	possibly damaging	Het
Eif3a	T	C	19: 60,769,961	D793G	unknown	Het
Exoc4	C	A	6: 33,862,142	D704E	probably damaging	Het
Fmo5	A	C	3: 97,637,481	T109P	probably damaging	Het
Ggt5	A	G	10: 75,604,101	I179V	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Irs1	G	T	1: 82,289,959	R179S	probably damaging	Het
Jmy	A	T	13: 93,459,786	V445E	probably damaging	Het
Jup	C	A	11: 100,383,586	V93F	probably benign	Het
Krt20	T	C	11: 99,437,826	Y91C	probably damaging	Het
Mug2	T	A	6: 122,036,104		probably benign	Het
Mybpc3	C	T	2: 91,135,407	T1188I	possibly damaging	Het
Myt1	T	C	2: 181,821,997	L1032P	probably benign	Het
Naip6	A	T	13: 100,300,196	N606K	probably damaging	Het
Nfrkb	A	T	9: 31,414,179	M973L	probably benign	Het
Olfr1109	C	T	2: 87,092,974	C141Y	probably damaging	Het
Olfr1477	A	T	19: 13,502,741	T133S	possibly damaging	Het
Parp8	T	C	13: 116,862,302		probably benign	Het
Plekha5	T	A	6: 140,525,916	M131K	probably benign	Het
Pomt1	T	A	2: 32,243,472	S207T	probably benign	Het
Prlr	T	A	15: 10,314,220	M1K	probably null	Het
Prr15	A	G	6: 54,329,505	K83E	probably damaging	Het
Rnf4	A	G	5: 34,346,779	N5S	probably benign	Het
Sel1l3	T	A	5: 53,200,143	H169L	probably benign	Het
Slc24a5	A	G	2: 125,068,903	I85V	probably benign	Het
Tmc2	T	C	2: 130,260,240	I775T	possibly damaging	Het
Trnau1ap	A	T	4: 132,319,562	F141L	probably benign	Het
Zswim9	A	T	7: 13,260,321	V636D	possibly 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
IGL01576:Zscan4d	APN	7	11162592	missense	possibly damaging	0.91
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

Posted On

2014-05-07