Mutagenetix > Incidental Mutations

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

LD5-1, 2510038J07Rik, D430019P06Rik, Zfp192

MMRRC Submission

039721-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R1688 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21513222-21531120 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21520154 bp

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]

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
2410089E03Rik	T	C	15: 8,228,609	V2113A	probably benign	Het
4930486L24Rik	T	C	13: 60,854,881	T20A	probably benign	Het
Acaca	T	G	11: 84,238,896	V359G	probably damaging	Het
Adgb	G	A	10: 10,350,317	R1359*	probably null	Het
Aggf1	T	C	13: 95,364,767	E369G	probably damaging	Het
Alkbh8	T	A	9: 3,382,765	D418E	probably damaging	Het
Alox8	T	C	11: 69,189,906	D203G	probably benign	Het
Ank	A	G	15: 27,557,234	D168G	probably damaging	Het
Ap5m1	A	G	14: 49,080,834		probably null	Het
Arhgap45	A	G	10: 80,029,095	Y964C	probably damaging	Het
Arhgef2	A	G	3: 88,640,300	D571G	probably benign	Het
Bdh2	A	T	3: 135,301,638	Y223F	possibly damaging	Het
Bin1	T	C	18: 32,419,935		probably benign	Het
Bin1	G	A	18: 32,424,972		probably benign	Het
Cacna1g	T	A	11: 94,425,953	M1514L	possibly damaging	Het
Cd109	T	A	9: 78,705,091	F1253L	probably benign	Het
Cfap57	T	A	4: 118,569,646	E1065V	probably null	Het
Chmp2b	T	C	16: 65,551,036	N14S	probably benign	Het
Crybg1	A	T	10: 43,973,798	F1660L	probably damaging	Het
Cyp2c37	T	G	19: 39,994,443		probably null	Het
Daam1	A	T	12: 71,947,046	I408F	unknown	Het
Dsc3	T	A	18: 19,966,227	D744V	probably damaging	Het
Eprs	T	C	1: 185,384,896	F379L	probably damaging	Het
Ewsr1	G	T	11: 5,072,870	D417E	unknown	Het
Eya4	A	T	10: 23,123,861	N424K	probably damaging	Het
Gm9312	A	C	12: 24,251,919		noncoding transcript	Het
Havcr2	T	C	11: 46,479,364	I206T	probably damaging	Het
Igfbp2	T	C	1: 72,824,966		probably null	Het
Ikzf2	T	C	1: 69,542,280	K196R	possibly damaging	Het
Il12rb1	G	A	8: 70,819,402	G587R	probably damaging	Het
Immt	A	T	6: 71,857,011	H208L	probably damaging	Het
Kcnq2	C	T	2: 181,087,033	V540I	probably damaging	Het
Klk1b8	T	A	7: 43,945,805		probably benign	Het
Mc2r	T	A	18: 68,408,019	I68F	possibly damaging	Het
Neil3	T	C	8: 53,601,034	E320G	probably damaging	Het
Nell2	T	C	15: 95,431,613	T276A	probably damaging	Het
Nphp3	T	C	9: 104,003,124	L115P	probably damaging	Het
Nras	T	C	3: 103,060,373	L95P	probably benign	Het
Ogt	G	A	X: 101,655,690	V190I	probably damaging	Het
Olfr1102	A	G	2: 87,002,386	Y139C	probably benign	Het
Olfr745	A	T	14: 50,643,248	K322N	probably benign	Het
P2ry6	T	A	7: 100,938,384	H256L	probably damaging	Het
Pcbp4	T	C	9: 106,461,334	S153P	probably damaging	Het
Pclo	T	C	5: 14,788,493		probably null	Het
Per2	A	G	1: 91,423,829	L985P	probably damaging	Het
Phip	T	C	9: 82,871,657	N1678S	probably benign	Het
Pkd1l3	A	G	8: 109,623,818	S432G	probably benign	Het
Plin4	T	A	17: 56,109,363	D47V	possibly damaging	Het
Ppp2cb	A	G	8: 33,615,452	I163M	probably benign	Het
Ptpdc1	T	C	13: 48,586,224	E577G	probably benign	Het
Ptprd	G	T	4: 75,982,684	P1063T	probably damaging	Het
Ptpru	T	C	4: 131,787,345	D866G	probably benign	Het
Rdx	T	C	9: 52,060,911		probably benign	Het
Rgsl1	C	T	1: 153,804,676	R760H	probably damaging	Het
Rhno1	A	G	6: 128,357,934	V142A	probably benign	Het
Sema5a	C	T	15: 32,669,424	T698I	probably benign	Het
Serpina3a	A	T	12: 104,118,643	D99V	probably benign	Het
Slc22a3	A	T	17: 12,433,807	M350K	probably damaging	Het
Spata31d1b	T	A	13: 59,715,460	S141T	possibly damaging	Het
Tada2a	T	C	11: 84,084,759		probably null	Het
Tmem8	C	T	17: 26,118,908	A422V	possibly damaging	Het
Tspan10	A	G	11: 120,442,782	M2V	probably damaging	Het
Ttll11	T	C	2: 35,795,379	T566A	probably damaging	Het
Vwa8	A	G	14: 79,201,103	Q1872R	possibly damaging	Het
Zfp605	T	A	5: 110,129,041	I675N	possibly damaging	Het

Other mutations in Zkscan8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01726:Zkscan8	APN	13	21520803	missense	probably benign	0.00
IGL01987:Zkscan8	APN	13	21526559	missense	probably damaging	1.00
R0129:Zkscan8	UTSW	13	21522271	missense	probably benign	0.35
R0371:Zkscan8	UTSW	13	21526674	missense	probably damaging	1.00
R0682:Zkscan8	UTSW	13	21526760	missense	probably damaging	1.00
R1635:Zkscan8	UTSW	13	21526595	missense	possibly damaging	0.84
R1908:Zkscan8	UTSW	13	21525155	missense	probably damaging	0.96
R1912:Zkscan8	UTSW	13	21520757	nonsense	probably null
R2117:Zkscan8	UTSW	13	21520318	missense	probably damaging	1.00
R2155:Zkscan8	UTSW	13	21520589	nonsense	probably null
R2214:Zkscan8	UTSW	13	21520912	missense	probably benign	0.43
R2274:Zkscan8	UTSW	13	21521796	missense	probably benign	0.02
R3624:Zkscan8	UTSW	13	21520776	missense	probably damaging	1.00
R5528:Zkscan8	UTSW	13	21520725	missense	probably damaging	1.00
R5536:Zkscan8	UTSW	13	21526668	missense	probably damaging	1.00
R6492:Zkscan8	UTSW	13	21525227	missense	probably benign	0.25
R6533:Zkscan8	UTSW	13	21520578	missense	probably damaging	1.00
R7131:Zkscan8	UTSW	13	21525273	missense	probably damaging	1.00
R7837:Zkscan8	UTSW	13	21520428	missense	possibly damaging	0.96
R7877:Zkscan8	UTSW	13	21520410	missense	possibly damaging	0.90
R7920:Zkscan8	UTSW	13	21520428	missense	possibly damaging	0.96
R7960:Zkscan8	UTSW	13	21520410	missense	possibly damaging	0.90

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