Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01296:Zkscan16'

73142

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zkscan16

Ensembl Gene

ENSMUSG00000038630

Gene Name

zinc finger with KRAB and SCAN domains 16

Synonyms

Zfp483

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

IGL01296

Quality Score

Status

Chromosome

Chromosomal Location

58943628-58958355 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58956690 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 324 (H324R)

Ref Sequence

ENSEMBL: ENSMUSP00000103178 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107554]

AlphaFold

A2ALW2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107554
AA Change: H324R

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000103178
Gene: ENSMUSG00000038630
AA Change: H324R

Domain	Start	End	E-Value	Type
SCAN	44	153	1.9e-42	SMART
KRAB	170	230	1.66e-20	SMART
internal_repeat_1	281	452	7.49e-5	PROSPERO
ZnF_C2H2	483	505	4.79e-3	SMART
ZnF_C2H2	511	533	2.75e-3	SMART
ZnF_C2H2	539	561	1.6e-4	SMART
ZnF_C2H2	567	589	5.99e-4	SMART
ZnF_C2H2	595	617	1.99e0	SMART
ZnF_C2H2	623	645	5.14e-3	SMART
ZnF_C2H2	651	673	2.65e-5	SMART
ZnF_C2H2	679	701	1.82e-3	SMART
ZnF_C2H2	706	725	4.74e1	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadl	A	G	1: 66,841,705	S301P	probably damaging	Het
Adam34	A	G	8: 43,651,141	V489A	possibly damaging	Het
Adcy8	G	A	15: 64,783,779	T617I	probably damaging	Het
Aggf1	T	C	13: 95,353,971	D605G	probably damaging	Het
Atp10a	T	A	7: 58,813,625	F969I	probably benign	Het
Becn1	A	T	11: 101,291,451	N97K	probably damaging	Het
Cd4	G	A	6: 124,879,378	T50I	probably benign	Het
Crtac1	A	T	19: 42,284,213	C578S	probably damaging	Het
Dcp1b	A	G	6: 119,215,358	K412E	probably damaging	Het
Dlg2	T	A	7: 91,940,059	I327N	probably damaging	Het
Ehf	T	A	2: 103,268,155		probably null	Het
Elavl4	T	C	4: 110,206,612	N264S	probably benign	Het
Enpp2	A	T	15: 54,875,669	I406N	probably damaging	Het
F10	A	T	8: 13,055,383	Y316F	possibly damaging	Het
Fam20a	A	G	11: 109,685,351	I194T	possibly damaging	Het
Fcgbp	T	C	7: 28,089,647	V546A	probably benign	Het
Fras1	A	T	5: 96,673,698	Q1438L	probably null	Het
Gm43638	T	C	5: 87,460,592	I463V	probably benign	Het
Gm597	T	C	1: 28,777,056	I632V	probably benign	Het
H2-T10	T	C	17: 36,120,710	D84G	probably benign	Het
Itpr1	T	C	6: 108,399,361	F1262L	probably damaging	Het
Lama1	A	G	17: 67,745,051	N335D	probably benign	Het
Lasp1	T	C	11: 97,836,190	V246A	probably damaging	Het
Lrrk2	A	T	15: 91,683,142	I135L	probably benign	Het
Malrd1	G	A	2: 16,101,957		probably null	Het
Mctp2	T	C	7: 72,228,526	K268R	probably benign	Het
Nbea	A	T	3: 56,031,536	H710Q	probably benign	Het
Notch3	G	A	17: 32,166,757	R13C	unknown	Het
Ogfod1	A	T	8: 94,055,671		probably benign	Het
Olfr1465	A	G	19: 13,314,126	L53P	probably damaging	Het
Olfr339	A	G	2: 36,421,704	Y102C	probably benign	Het
Olfr924	T	C	9: 38,848,252	I46T	probably damaging	Het
Pgm3	A	G	9: 86,561,879	V324A	probably damaging	Het
Ppfia2	A	T	10: 106,858,207	I681F	probably damaging	Het
Prss23	T	C	7: 89,509,887	K325E	possibly damaging	Het
Psmd7	T	A	8: 107,586,617		probably benign	Het
Rfx2	T	A	17: 56,808,317	M1L	possibly damaging	Het
Rpa1	T	C	11: 75,312,315	Y418C	probably damaging	Het
Rps6kc1	C	T	1: 190,773,678	R1029H	probably damaging	Het
Sept10	A	G	10: 59,166,600	V391A	probably benign	Het
Skint6	A	G	4: 113,236,440	F169L	probably benign	Het
Slc44a4	C	T	17: 34,921,698	T289I	probably benign	Het
Srl	T	C	16: 4,497,682	D32G	probably damaging	Het
Stxbp3-ps	T	A	19: 9,557,892		noncoding transcript	Het
Sult1b1	T	C	5: 87,514,956	D295G	probably benign	Het
Tmprss7	A	G	16: 45,684,574	V151A	probably damaging	Het
Trmo	A	G	4: 46,387,589	L84P	probably damaging	Het
Vmn2r98	T	A	17: 19,065,185	I89N	probably damaging	Het
Zcwpw1	G	A	5: 137,796,799	A86T	probably benign	Het

Other mutations in Zkscan16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00467:Zkscan16	APN	4	58957709	missense	possibly damaging	0.86
IGL01330:Zkscan16	APN	4	58956483	missense	possibly damaging	0.85
IGL02143:Zkscan16	APN	4	58956911	missense	probably damaging	1.00
IGL02901:Zkscan16	APN	4	58946283	missense	probably damaging	0.98
IGL03399:Zkscan16	APN	4	58956915	missense	probably benign	0.33
R0271:Zkscan16	UTSW	4	58952391	missense	probably benign	0.33
R0317:Zkscan16	UTSW	4	58957602	missense	possibly damaging	0.86
R0542:Zkscan16	UTSW	4	58956597	missense	possibly damaging	0.53
R1417:Zkscan16	UTSW	4	58952377	missense	probably benign	0.33
R1674:Zkscan16	UTSW	4	58948918	missense	possibly damaging	0.96
R2014:Zkscan16	UTSW	4	58956525	missense	possibly damaging	0.96
R2246:Zkscan16	UTSW	4	58957329	missense	probably benign	0.09
R2352:Zkscan16	UTSW	4	58951869	missense	possibly damaging	0.71
R2851:Zkscan16	UTSW	4	58957364	missense	possibly damaging	0.71
R2852:Zkscan16	UTSW	4	58957364	missense	possibly damaging	0.71
R3896:Zkscan16	UTSW	4	58946125	start gained	probably benign
R4488:Zkscan16	UTSW	4	58957431	missense	possibly damaging	0.89
R4631:Zkscan16	UTSW	4	58951918	missense	probably damaging	0.98
R4825:Zkscan16	UTSW	4	58957809	missense	possibly damaging	0.73
R4912:Zkscan16	UTSW	4	58946506	missense	possibly damaging	0.85
R5014:Zkscan16	UTSW	4	58951892	missense	probably damaging	0.97
R5411:Zkscan16	UTSW	4	58956745	frame shift	probably null
R5642:Zkscan16	UTSW	4	58957748	missense	probably benign	0.11
R5809:Zkscan16	UTSW	4	58946481	missense	probably damaging	0.98
R6089:Zkscan16	UTSW	4	58948889	missense	possibly damaging	0.85
R6152:Zkscan16	UTSW	4	58946260	missense	possibly damaging	0.85
R6469:Zkscan16	UTSW	4	58956483	missense	probably damaging	0.98
R7662:Zkscan16	UTSW	4	58957679	nonsense	probably null
R7790:Zkscan16	UTSW	4	58951843	nonsense	probably null
R8150:Zkscan16	UTSW	4	58952407	missense	probably benign	0.06
R8359:Zkscan16	UTSW	4	58957230	missense	possibly damaging	0.92
R9022:Zkscan16	UTSW	4	58957021	missense	probably benign	0.03
R9133:Zkscan16	UTSW	4	58957722	missense	possibly damaging	0.93
R9641:Zkscan16	UTSW	4	58956577	missense	probably benign	0.00
R9745:Zkscan16	UTSW	4	58957473	missense	possibly damaging	0.93
X0020:Zkscan16	UTSW	4	58956747	missense	possibly damaging	0.91
Z1176:Zkscan16	UTSW	4	58957052	missense	probably damaging	1.00
Z1177:Zkscan16	UTSW	4	58948909	missense	probably benign	0.07

Posted On

2013-10-07