Mutagenetix > Incidental Mutations

Incidental Mutation 'R5528:Zkscan8'

433544

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

043086-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R5528 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21513222-21531120 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21520725 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 276 (V276A)

Ref Sequence

ENSEMBL: ENSMUSP00000153171 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000045228
AA Change: V348A

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000040248
Gene: ENSMUSG00000063894
AA Change: V348A

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

probably damaging
Transcript: ENSMUST00000224362
AA Change: V276A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Coding Region Coverage

1x: 98.6%
3x: 97.4%
10x: 95.4%
20x: 91.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 138,066,499	L483P	probably benign	Het
1700025F22Rik	T	C	19: 11,141,635	S37G	possibly damaging	Het
3110043O21Rik	T	C	4: 35,213,556	D198G	probably benign	Het
4930519G04Rik	T	G	5: 114,874,354		probably null	Het
Ablim2	C	T	5: 35,856,166	Q148*	probably null	Het
Ap3s2	A	T	7: 79,880,486	*194R	probably null	Het
Arpp21	C	T	9: 112,149,353	A235T	probably benign	Het
Ccdc33	T	C	9: 58,028,795	D939G	probably benign	Het
Celsr2	A	T	3: 108,413,294	I734N	probably damaging	Het
Clcn1	C	A	6: 42,300,341	N455K	probably benign	Het
Cpne8	C	T	15: 90,619,690	V91I	possibly damaging	Het
Ddx1	A	G	12: 13,229,294	V448A	probably damaging	Het
Dnhd1	G	A	7: 105,703,209	R2523Q	probably damaging	Het
Eif2a	G	T	3: 58,548,512	D311Y	probably damaging	Het
Eif2ak4	G	A	2: 118,427,938	E512K	probably damaging	Het
Esp15	A	T	17: 39,644,749	Y69F	probably benign	Het
Fam102a	G	A	2: 32,566,327	A334T	probably damaging	Het
Gm5689	A	G	18: 42,173,662		probably null	Het
Gucy1a1	A	T	3: 82,109,073	Y203N	probably damaging	Het
Hook3	T	C	8: 26,072,293	Q248R	probably damaging	Het
Ifit2	T	A	19: 34,573,537	V159E	possibly damaging	Het
Il17rd	T	C	14: 27,088,067	V20A	possibly damaging	Het
Kcnq3	T	A	15: 66,025,178	D291V	probably damaging	Het
Klf11	A	T	12: 24,654,930	M111L	probably benign	Het
Lama5	T	A	2: 180,194,563	H1165L	probably benign	Het
Lmo7	A	G	14: 101,902,086	N702S	probably damaging	Het
Lta4h	T	C	10: 93,471,874	V323A	probably damaging	Het
Mkrn3	T	C	7: 62,418,987	E352G	possibly damaging	Het
Mtf2	T	A	5: 108,094,157	L277Q	probably damaging	Het
Myo9b	A	G	8: 71,323,274	N370D	probably benign	Het
Nlrp4e	A	C	7: 23,336,891	K723T	probably benign	Het
Nsun3	A	G	16: 62,735,326	V279A	possibly damaging	Het
Pde6b	A	G	5: 108,423,558	D459G	probably benign	Het
Phgdh	T	C	3: 98,328,339	I121V	probably benign	Het
Pik3r5	T	C	11: 68,495,977	C811R	probably damaging	Het
Spaca6	A	C	17: 17,831,082	I27L	probably benign	Het
Trmt1l	G	A	1: 151,454,995	V588I	probably benign	Het
Tshr	A	G	12: 91,537,193	N302D	probably damaging	Het
Vmn2r23	A	G	6: 123,713,002	D279G	probably damaging	Het
Wnt3a	T	C	11: 59,275,280	N58S	probably 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
R1688:Zkscan8	UTSW	13	21520154	missense	possibly damaging	0.94
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
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

Predicted Primers

PCR Primer
(F):5'- CCCACACTGATTACATTGATAGGGC -3'
(R):5'- AATCCAGCCACATGGAGAGG -3'

Sequencing Primer
(F):5'- ATTCTCTGGTGTAGGATCAAGCC -3'
(R):5'- CCACATGGAGAGGCAACTGC -3'

Posted On

2016-10-06