Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02005:Zkscan14'

183160

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zkscan14

Ensembl Gene

ENSMUSG00000029627

Gene Name

zinc finger with KRAB and SCAN domains 14

Synonyms

Zfp99, 2810437E14Rik, 2310046C23Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.330) question?

Stock #

IGL02005

Quality Score

Status

Chromosome

Chromosomal Location

145131756-145138678 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 145132419 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 371 (V371I)

Ref Sequence

ENSEMBL: ENSMUSP00000031632 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031632] [ENSMUST00000037056] [ENSMUST00000161741] [ENSMUST00000162220] [ENSMUST00000162360] [ENSMUST00000198959]

AlphaFold

Q9Z1D9

Predicted Effect

probably benign
Transcript: ENSMUST00000031632
AA Change: V371I

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000031632
Gene: ENSMUSG00000029627
AA Change: V371I

Domain	Start	End	E-Value	Type
SCAN	40	152	6.65e-65	SMART
KRAB	135	196	2.79e-13	SMART
low complexity region	258	269	N/A	INTRINSIC
ZnF_C2H2	327	349	1.58e-3	SMART
ZnF_C2H2	355	377	4.01e-5	SMART
ZnF_C2H2	383	405	1.04e-3	SMART
ZnF_C2H2	411	432	2.82e0	SMART
ZnF_C2H2	438	460	4.54e-4	SMART
ZnF_C2H2	466	488	1.95e-3	SMART
ZnF_C2H2	494	516	1.69e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000037056

SMART Domains

Protein: ENSMUSP00000039726
Gene: ENSMUSG00000038690

Domain	Start	End	E-Value	Type
Pfam:WRW	1	73	1.4e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161741

SMART Domains

Protein: ENSMUSP00000125504
Gene: ENSMUSG00000038690

Domain	Start	End	E-Value	Type
Pfam:WRW	6	84	2.8e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161845

Predicted Effect

probably benign
Transcript: ENSMUST00000162220

SMART Domains

Protein: ENSMUSP00000124196
Gene: ENSMUSG00000029627

Domain	Start	End	E-Value	Type
KRAB	1	62	2.79e-13	SMART
low complexity region	124	135	N/A	INTRINSIC
ZnF_C2H2	193	215	1.58e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162360

Predicted Effect

probably benign
Transcript: ENSMUST00000198959

SMART Domains

Protein: ENSMUSP00000143630
Gene: ENSMUSG00000029627

Domain	Start	End	E-Value	Type
SCAN	40	143	4.29e-59	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200584

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a zinc finger protein that inhibits the transcription of mitogen-activated protein kinase signaling pathways. The encoded protein may be involved in cardiac function. [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	A	G	3: 89,965,927 (GRCm39)	D141G	probably damaging	Het
Ankhd1	T	G	18: 36,781,479 (GRCm39)	L2177R	probably damaging	Het
Arhgap23	A	T	11: 97,382,045 (GRCm39)	D1136V	probably damaging	Het
Atp6v1b1	A	G	6: 83,730,896 (GRCm39)		probably benign	Het
Atxn1	T	C	13: 45,721,701 (GRCm39)	T65A	probably benign	Het
Bbs4	A	G	9: 59,243,638 (GRCm39)		probably benign	Het
Bms1	G	A	6: 118,381,546 (GRCm39)	T664M	probably damaging	Het
Bod1l	T	C	5: 41,973,682 (GRCm39)	D2544G	probably benign	Het
Cdhr2	C	T	13: 54,867,576 (GRCm39)	H469Y	probably benign	Het
Cep57l1	T	C	10: 41,616,957 (GRCm39)	D110G	probably benign	Het
Chd4	G	A	6: 125,105,779 (GRCm39)	E1786K	possibly damaging	Het
Cltc	T	C	11: 86,621,045 (GRCm39)	K321E	possibly damaging	Het
Col6a2	T	C	10: 76,446,007 (GRCm39)	D383G	probably damaging	Het
Crcp	T	G	5: 130,071,074 (GRCm39)	C58G	probably benign	Het
Ctc1	A	G	11: 68,921,975 (GRCm39)	Y807C	probably damaging	Het
Eml4	T	A	17: 83,785,132 (GRCm39)		probably benign	Het
Glce	A	T	9: 61,967,859 (GRCm39)	L431I	probably damaging	Het
Glp1r	C	A	17: 31,143,585 (GRCm39)	T207K	probably benign	Het
Gm28042	G	A	2: 119,865,115 (GRCm39)	V247I	possibly damaging	Het
Gvin-ps5	G	T	7: 105,928,627 (GRCm39)	F423L	unknown	Het
Hcrtr1	T	A	4: 130,031,056 (GRCm39)	H76L	probably benign	Het
Hoxb13	G	A	11: 96,085,435 (GRCm39)	G56D	probably damaging	Het
Hykk	A	G	9: 54,827,842 (GRCm39)	E27G	possibly damaging	Het
Kars1	A	T	8: 112,726,736 (GRCm39)	L321*	probably null	Het
Klhl12	A	T	1: 134,391,652 (GRCm39)	T95S	possibly damaging	Het
Klhl14	A	T	18: 21,757,668 (GRCm39)	Y347*	probably null	Het
Kmt5b	A	G	19: 3,836,538 (GRCm39)	H25R	possibly damaging	Het
Krtap12-1	T	A	10: 77,556,823 (GRCm39)	V122D	probably damaging	Het
Lrrc66	T	C	5: 73,766,077 (GRCm39)	D322G	possibly damaging	Het
Lrrc8b	T	A	5: 105,628,920 (GRCm39)	V422D	probably benign	Het
Med12l	T	G	3: 59,152,368 (GRCm39)	M1051R	probably damaging	Het
Mmrn1	A	G	6: 60,937,728 (GRCm39)	Y242C	probably damaging	Het
Ncf2	A	T	1: 152,692,803 (GRCm39)	I107L	possibly damaging	Het
Or6b13	C	T	7: 139,782,345 (GRCm39)	E113K	probably damaging	Het
Pdlim4	T	C	11: 53,950,810 (GRCm39)	D93G	probably benign	Het
Pgap1	C	A	1: 54,590,214 (GRCm39)	A75S	probably damaging	Het
Pkd1	A	G	17: 24,804,978 (GRCm39)	D3209G	possibly damaging	Het
Prcp	T	C	7: 92,577,032 (GRCm39)	S319P	probably benign	Het
Rasal2	G	A	1: 156,984,568 (GRCm39)	Q1035*	probably null	Het
Ryr3	A	T	2: 112,493,608 (GRCm39)		probably benign	Het
Scaf8	T	C	17: 3,236,145 (GRCm39)	I544T	probably damaging	Het
Svep1	A	T	4: 58,069,056 (GRCm39)	V2910E	possibly damaging	Het
Tln2	C	T	9: 67,299,787 (GRCm39)	R155Q	possibly damaging	Het
Trpm7	A	T	2: 126,655,104 (GRCm39)	L1278H	probably damaging	Het
Tti2	G	T	8: 31,645,858 (GRCm39)	G391C	probably damaging	Het
Ttn	C	T	2: 76,778,363 (GRCm39)	M1295I	possibly damaging	Het
Ttn	T	C	2: 76,554,313 (GRCm39)		probably benign	Het
Vmn1r170	G	A	7: 23,306,338 (GRCm39)	V247M	probably damaging	Het
Wdr48	T	C	9: 119,734,455 (GRCm39)	Y125H	probably damaging	Het
Wdtc1	C	T	4: 133,036,225 (GRCm39)	R105H	probably benign	Het
Zc3h11a	A	G	1: 133,549,880 (GRCm39)	S699P	probably benign	Het
Zzef1	A	T	11: 72,779,125 (GRCm39)	Y1862F	probably benign	Het

Other mutations in Zkscan14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01144:Zkscan14	APN	5	145,132,806 (GRCm39)	missense	probably benign	0.13
R1672:Zkscan14	UTSW	5	145,138,464 (GRCm39)	missense	probably benign	0.02
R2166:Zkscan14	UTSW	5	145,132,944 (GRCm39)	missense	probably benign	0.00
R4169:Zkscan14	UTSW	5	145,132,985 (GRCm39)	missense	possibly damaging	0.55
R4789:Zkscan14	UTSW	5	145,132,444 (GRCm39)	missense	probably damaging	1.00
R4853:Zkscan14	UTSW	5	145,132,001 (GRCm39)	missense	probably benign	0.05
R4959:Zkscan14	UTSW	5	145,132,302 (GRCm39)	missense	probably benign	0.00
R5391:Zkscan14	UTSW	5	145,132,604 (GRCm39)	missense	probably benign	0.00
R5457:Zkscan14	UTSW	5	145,138,169 (GRCm39)	missense	probably benign	0.00
R6752:Zkscan14	UTSW	5	145,132,316 (GRCm39)	missense	probably damaging	1.00
R7619:Zkscan14	UTSW	5	145,132,169 (GRCm39)	missense	probably benign	0.04
R7736:Zkscan14	UTSW	5	145,132,319 (GRCm39)	missense	probably benign	0.10
R7952:Zkscan14	UTSW	5	145,132,708 (GRCm39)	missense	probably damaging	0.96
R8005:Zkscan14	UTSW	5	145,132,568 (GRCm39)	missense	possibly damaging	0.83
R8828:Zkscan14	UTSW	5	145,138,375 (GRCm39)	nonsense	probably null
R8910:Zkscan14	UTSW	5	145,132,190 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07