Mutagenetix > Incidental Mutation

Incidental Mutation 'R1688:Zkscan8'

189517

Institutional Source

Beutler Lab

Gene Symbol

Zkscan8

Ensembl Gene

ENSMUSG00000063894

Gene Name

zinc finger with KRAB and SCAN domains 8

Synonyms

2510038J07Rik, Zfp192, LD5-1, D430019P06Rik

MMRRC Submission

039721-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R1688 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21697391-21715284 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21704324 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 538 (N538K)

Ref Sequence

ENSEMBL: ENSMUSP00000040248 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045228] [ENSMUST00000156674] [ENSMUST00000224362]

AlphaFold

Q8BSL0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045228
AA Change: N538K

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000040248
Gene: ENSMUSG00000063894
AA Change: N538K

Domain	Start	End	E-Value	Type
low complexity region	8	22	N/A	INTRINSIC
SCAN	48	160	1.07e-68	SMART
KRAB	230	289	1.64e-10	SMART
ZnF_C2H2	332	354	6.42e-4	SMART
ZnF_C2H2	360	382	3.95e-4	SMART
ZnF_C2H2	388	410	8.47e-4	SMART
ZnF_C2H2	416	438	3.69e-4	SMART
ZnF_C2H2	444	466	8.47e-4	SMART
ZnF_C2H2	472	494	3.44e-4	SMART
ZnF_C2H2	500	522	5.67e-5	SMART
ZnF_C2H2	528	550	3.44e-4	SMART
ZnF_C2H2	556	578	1.84e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000156674

SMART Domains

Protein: ENSMUSP00000116058
Gene: ENSMUSG00000063894

Domain	Start	End	E-Value	Type
low complexity region	8	22	N/A	INTRINSIC
SCAN	48	160	1.07e-68	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224362
AA Change: N466K

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.1460

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	C	13: 61,002,695 (GRCm39)	T20A	probably benign	Het
Acaca	T	G	11: 84,129,722 (GRCm39)	V359G	probably damaging	Het
Adgb	G	A	10: 10,226,061 (GRCm39)	R1359*	probably null	Het
Aggf1	T	C	13: 95,501,275 (GRCm39)	E369G	probably damaging	Het
Alkbh8	T	A	9: 3,382,765 (GRCm39)	D418E	probably damaging	Het
Alox8	T	C	11: 69,080,732 (GRCm39)	D203G	probably benign	Het
Ank	A	G	15: 27,557,320 (GRCm39)	D168G	probably damaging	Het
Ap5m1	A	G	14: 49,318,291 (GRCm39)		probably null	Het
Arhgap45	A	G	10: 79,864,929 (GRCm39)	Y964C	probably damaging	Het
Arhgef2	A	G	3: 88,547,607 (GRCm39)	D571G	probably benign	Het
Bdh2	A	T	3: 135,007,399 (GRCm39)	Y223F	possibly damaging	Het
Bin1	T	C	18: 32,552,988 (GRCm39)		probably benign	Het
Bin1	G	A	18: 32,558,025 (GRCm39)		probably benign	Het
Cacna1g	T	A	11: 94,316,779 (GRCm39)	M1514L	possibly damaging	Het
Cd109	T	A	9: 78,612,373 (GRCm39)	F1253L	probably benign	Het
Cfap57	T	A	4: 118,426,843 (GRCm39)	E1065V	probably null	Het
Chmp2b	T	C	16: 65,347,922 (GRCm39)	N14S	probably benign	Het
Cplane1	T	C	15: 8,258,093 (GRCm39)	V2113A	probably benign	Het
Crybg1	A	T	10: 43,849,794 (GRCm39)	F1660L	probably damaging	Het
Cyp2c37	T	G	19: 39,982,887 (GRCm39)		probably null	Het
Daam1	A	T	12: 71,993,820 (GRCm39)	I408F	unknown	Het
Dsc3	T	A	18: 20,099,284 (GRCm39)	D744V	probably damaging	Het
Eprs1	T	C	1: 185,117,093 (GRCm39)	F379L	probably damaging	Het
Ewsr1	G	T	11: 5,022,870 (GRCm39)	D417E	unknown	Het
Eya4	A	T	10: 22,999,759 (GRCm39)	N424K	probably damaging	Het
Gm9312	A	C	12: 24,301,920 (GRCm39)		noncoding transcript	Het
Havcr2	T	C	11: 46,370,191 (GRCm39)	I206T	probably damaging	Het
Igfbp2	T	C	1: 72,864,125 (GRCm39)		probably null	Het
Ikzf2	T	C	1: 69,581,439 (GRCm39)	K196R	possibly damaging	Het
Il12rb1	G	A	8: 71,272,046 (GRCm39)	G587R	probably damaging	Het
Immt	A	T	6: 71,833,995 (GRCm39)	H208L	probably damaging	Het
Kcnq2	C	T	2: 180,728,826 (GRCm39)	V540I	probably damaging	Het
Klk1b8	T	A	7: 43,595,229 (GRCm39)		probably benign	Het
Mc2r	T	A	18: 68,541,090 (GRCm39)	I68F	possibly damaging	Het
Neil3	T	C	8: 54,054,069 (GRCm39)	E320G	probably damaging	Het
Nell2	T	C	15: 95,329,494 (GRCm39)	T276A	probably damaging	Het
Nphp3	T	C	9: 103,880,323 (GRCm39)	L115P	probably damaging	Het
Nras	T	C	3: 102,967,689 (GRCm39)	L95P	probably benign	Het
Ogt	G	A	X: 100,699,296 (GRCm39)	V190I	probably damaging	Het
Or11h6	A	T	14: 50,880,705 (GRCm39)	K322N	probably benign	Het
Or5t17	A	G	2: 86,832,730 (GRCm39)	Y139C	probably benign	Het
P2ry6	T	A	7: 100,587,591 (GRCm39)	H256L	probably damaging	Het
Pcbp4	T	C	9: 106,338,533 (GRCm39)	S153P	probably damaging	Het
Pclo	T	C	5: 14,838,507 (GRCm39)		probably null	Het
Per2	A	G	1: 91,351,551 (GRCm39)	L985P	probably damaging	Het
Pgap6	C	T	17: 26,337,882 (GRCm39)	A422V	possibly damaging	Het
Phip	T	C	9: 82,753,710 (GRCm39)	N1678S	probably benign	Het
Pkd1l3	A	G	8: 110,350,450 (GRCm39)	S432G	probably benign	Het
Plin4	T	A	17: 56,416,363 (GRCm39)	D47V	possibly damaging	Het
Ppp2cb	A	G	8: 34,105,480 (GRCm39)	I163M	probably benign	Het
Ptpdc1	T	C	13: 48,739,700 (GRCm39)	E577G	probably benign	Het
Ptprd	G	T	4: 75,900,921 (GRCm39)	P1063T	probably damaging	Het
Ptpru	T	C	4: 131,514,656 (GRCm39)	D866G	probably benign	Het
Rdx	T	C	9: 51,972,211 (GRCm39)		probably benign	Het
Rgsl1	C	T	1: 153,680,422 (GRCm39)	R760H	probably damaging	Het
Rhno1	A	G	6: 128,334,897 (GRCm39)	V142A	probably benign	Het
Sema5a	C	T	15: 32,669,570 (GRCm39)	T698I	probably benign	Het
Serpina3a	A	T	12: 104,084,902 (GRCm39)	D99V	probably benign	Het
Slc22a3	A	T	17: 12,652,694 (GRCm39)	M350K	probably damaging	Het
Spata31d1b	T	A	13: 59,863,274 (GRCm39)	S141T	possibly damaging	Het
Tada2a	T	C	11: 83,975,585 (GRCm39)		probably null	Het
Tspan10	A	G	11: 120,333,608 (GRCm39)	M2V	probably damaging	Het
Ttll11	T	C	2: 35,685,391 (GRCm39)	T566A	probably damaging	Het
Vwa8	A	G	14: 79,438,543 (GRCm39)	Q1872R	possibly damaging	Het
Zfp605	T	A	5: 110,276,907 (GRCm39)	I675N	possibly damaging	Het

Other mutations in Zkscan8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01726:Zkscan8	APN	13	21,704,973 (GRCm39)	missense	probably benign	0.00
IGL01987:Zkscan8	APN	13	21,710,729 (GRCm39)	missense	probably damaging	1.00
R0129:Zkscan8	UTSW	13	21,706,441 (GRCm39)	missense	probably benign	0.35
R0371:Zkscan8	UTSW	13	21,710,844 (GRCm39)	missense	probably damaging	1.00
R0682:Zkscan8	UTSW	13	21,710,930 (GRCm39)	missense	probably damaging	1.00
R1635:Zkscan8	UTSW	13	21,710,765 (GRCm39)	missense	possibly damaging	0.84
R1908:Zkscan8	UTSW	13	21,709,325 (GRCm39)	missense	probably damaging	0.96
R1912:Zkscan8	UTSW	13	21,704,927 (GRCm39)	nonsense	probably null
R2117:Zkscan8	UTSW	13	21,704,488 (GRCm39)	missense	probably damaging	1.00
R2155:Zkscan8	UTSW	13	21,704,759 (GRCm39)	nonsense	probably null
R2214:Zkscan8	UTSW	13	21,705,082 (GRCm39)	missense	probably benign	0.43
R2274:Zkscan8	UTSW	13	21,705,966 (GRCm39)	missense	probably benign	0.02
R3624:Zkscan8	UTSW	13	21,704,946 (GRCm39)	missense	probably damaging	1.00
R5528:Zkscan8	UTSW	13	21,704,895 (GRCm39)	missense	probably damaging	1.00
R5536:Zkscan8	UTSW	13	21,710,838 (GRCm39)	missense	probably damaging	1.00
R6492:Zkscan8	UTSW	13	21,709,397 (GRCm39)	missense	probably benign	0.25
R6533:Zkscan8	UTSW	13	21,704,748 (GRCm39)	missense	probably damaging	1.00
R7131:Zkscan8	UTSW	13	21,709,443 (GRCm39)	missense	probably damaging	1.00
R7837:Zkscan8	UTSW	13	21,704,598 (GRCm39)	missense	possibly damaging	0.96
R7877:Zkscan8	UTSW	13	21,704,580 (GRCm39)	missense	possibly damaging	0.90
R9342:Zkscan8	UTSW	13	21,710,702 (GRCm39)	missense	probably benign	0.05
R9609:Zkscan8	UTSW	13	21,709,434 (GRCm39)	missense	possibly damaging	0.68
R9623:Zkscan8	UTSW	13	21,704,763 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCTCTAATGCCAAATGATGCTCACACT -3'
(R):5'- AACCCAAGACCTTCTGGGCAAAC -3'

Sequencing Primer
(F):5'- TGATGCTCACACTACAACCAAAG -3'
(R):5'- gctttcagtcatagttcacacc -3'

Posted On

2014-05-14