Mutagenetix > Incidental Mutations

Incidental Mutation 'R1084:Zscan4d'

84953

Institutional Source

Beutler Lab

Gene Symbol

Zscan4d

Ensembl Gene

ENSMUSG00000090714

Gene Name

zinc finger and SCAN domain containing 4D

Synonyms

EG545913

MMRRC Submission

039170-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R1084 (G1)

Quality Score

224

Status

Validated

Chromosome

Chromosomal Location

11161374-11166159 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 11165005 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 115 (L115Q)

Ref Sequence

ENSEMBL: ENSMUSP00000066504 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000067210
AA Change: L115Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000066504
Gene: ENSMUSG00000090714
AA Change: L115Q

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 damaging
Transcript: ENSMUST00000165848
AA Change: L115Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131258
Gene: ENSMUSG00000110103
AA Change: L115Q

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

Meta Mutation Damage Score

0.8477

Coding Region Coverage

1x: 99.7%
3x: 99.0%
10x: 97.3%
20x: 93.7%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	A	15: 60,918,155		probably benign	Het
Abcg4	C	T	9: 44,277,469	V476M	probably benign	Het
Arhgap9	A	G	10: 127,327,928	S478G	probably damaging	Het
Blvra	A	G	2: 127,080,653	T3A	probably benign	Het
Crygb	C	T	1: 65,080,495	D109N	possibly damaging	Het
Cyp3a59	A	T	5: 146,096,674	T207S	probably benign	Het
Cyp4b1	A	G	4: 115,640,312	V163A	probably benign	Het
Dmxl2	A	T	9: 54,416,433	S1222R	probably damaging	Het
Dna2	C	T	10: 62,949,187	R28W	probably benign	Het
Dnah5	G	A	15: 28,343,452	V2333I	probably benign	Het
Eral1	C	T	11: 78,074,498	V364M	probably damaging	Het
Fat4	T	C	3: 38,979,825	V2542A	possibly damaging	Het
Glcci1	C	T	6: 8,573,221	Q50*	probably null	Het
Heg1	A	G	16: 33,706,997	D109G	probably benign	Het
Lama1	C	A	17: 67,804,469	S2238R	probably benign	Het
Ltbp1	G	A	17: 75,359,425	W1053*	probably null	Het
Ly6f	T	C	15: 75,268,773	L15P	probably damaging	Het
Mapk8	T	A	14: 33,388,803	K290*	probably null	Het
Mbd1	A	G	18: 74,269,532	Y35C	probably damaging	Het
Mcf2l	T	C	8: 13,002,645	V503A	possibly damaging	Het
Morc2a	A	G	11: 3,650,454		probably benign	Het
Ms4a8a	T	A	19: 11,076,362	I127F	probably damaging	Het
Myo1d	T	C	11: 80,684,395	Y165C	probably damaging	Het
Ocel1	G	T	8: 71,371,988		probably null	Het
Plekhh2	C	T	17: 84,571,126	T603M	probably damaging	Het
Rab6b	C	T	9: 103,162,635	T128M	probably damaging	Het
Scel	G	T	14: 103,564,843		probably null	Het
Sec23a	A	T	12: 58,985,135	N436K	probably damaging	Het
Sec24a	A	G	11: 51,713,581	L736P	probably damaging	Het
Sf3b1	C	G	1: 55,019,395	E12Q	possibly damaging	Het
Sulf1	AAGGGA	AAGGGAGGGA	1: 12,836,164		probably null	Het
Tex15	A	G	8: 33,577,004	E2154G	probably benign	Het
Tnrc18	A	G	5: 142,764,767		probably null	Het
Tpr	A	G	1: 150,442,161	Q2140R	probably benign	Het
Zfp142	T	C	1: 74,571,826	R834G	probably benign	Het
Zfp276	G	A	8: 123,254,723	R3Q	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCCTTAAAGTCCTCCCCAGGACAATTC -3'
(R):5'- GTAACAATGGCTGCTGGGCAAC -3'

Sequencing Primer
(F):5'- AACCTAATTGATAGGCTCCTTTCTG -3'
(R):5'- TCAGGAGCTGCAAAGTCTC -3'

Posted On

2013-11-18