Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01144:Zkscan14'

51194

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: 0.303) question?

Stock #

IGL01144

Quality Score

Status

Chromosome

Chromosomal Location

145131756-145138678 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 145132806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 242 (R242S)

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: R242S

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000031632
Gene: ENSMUSG00000029627
AA Change: R242S

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
AA Change: R108S

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000124196
Gene: ENSMUSG00000029627
AA Change: R108S

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cox19	T	C	5: 139,330,881 (GRCm39)	K10E	probably damaging	Het
Ddx21	T	A	10: 62,434,329 (GRCm39)	K143N	unknown	Het
Dnajb13	T	C	7: 100,152,431 (GRCm39)	D295G	possibly damaging	Het
Gm14496	A	G	2: 181,636,814 (GRCm39)	N91D	probably damaging	Het
Kidins220	T	C	12: 25,060,925 (GRCm39)	I801T	probably damaging	Het
Nexmif	A	G	X: 103,127,559 (GRCm39)	S1453P	possibly damaging	Het
Nobox	A	G	6: 43,280,935 (GRCm39)	V513A	possibly damaging	Het
Phactr1	G	A	13: 43,191,000 (GRCm39)	D157N	possibly damaging	Het
Plod1	G	T	4: 148,017,211 (GRCm39)	Q49K	probably benign	Het
Ppp1r10	C	T	17: 36,237,456 (GRCm39)	R209C	probably benign	Het
Prr12	T	C	7: 44,696,882 (GRCm39)	E1011G	unknown	Het
Rab27a	G	A	9: 72,982,850 (GRCm39)		probably null	Het
Rbbp6	T	A	7: 122,575,169 (GRCm39)	D59E	possibly damaging	Het
Sbf2	G	T	7: 109,929,110 (GRCm39)	T1432K	probably damaging	Het
Sorbs3	A	C	14: 70,429,017 (GRCm39)	S383A	probably benign	Het
Spta1	T	A	1: 174,014,829 (GRCm39)	D436E	probably benign	Het
Tbc1d4	A	T	14: 101,682,099 (GRCm39)	Y1266N	probably damaging	Het
Ttn	A	T	2: 76,551,173 (GRCm39)	Y29660*	probably null	Het
Ubr2	A	G	17: 47,268,247 (GRCm39)	I989T	probably damaging	Het

Other mutations in Zkscan14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02005:Zkscan14	APN	5	145,132,419 (GRCm39)	missense	probably benign	0.03
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

2013-06-21