Mutagenetix > Incidental Mutation

Incidental Mutation 'R9609:Zkscan8'

724109

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R9609 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21697391-21715284 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 21709434 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 155 (V155F)

Ref Sequence

ENSEMBL: ENSMUSP00000040248 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045228] [ENSMUST00000110481] [ENSMUST00000156674] [ENSMUST00000224362]

AlphaFold

Q8BSL0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045228
AA Change: V155F

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000040248
Gene: ENSMUSG00000063894
AA Change: V155F

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: ENSMUST00000110481

SMART Domains

Protein: ENSMUSP00000106107
Gene: ENSMUSG00000063894

Domain	Start	End	E-Value	Type
low complexity region	8	22	N/A	INTRINSIC
SCAN	48	145	3.33e-56	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000156674
AA Change: V155F

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000116058
Gene: ENSMUSG00000063894
AA Change: V155F

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: V155F

PolyPhen 2 Score 0.583 (Sensitivity: 0.88; Specificity: 0.91)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,208,549 (GRCm39)	S241P	probably damaging	Het
Adam23	A	T	1: 63,576,102 (GRCm39)	M295L	probably benign	Het
Ano8	T	A	8: 71,933,726 (GRCm39)	D522V	unknown	Het
Asgr2	T	C	11: 69,988,667 (GRCm39)	L120P	probably damaging	Het
Atp5mc2	A	G	15: 102,573,580 (GRCm39)	F79L	probably damaging	Het
Baiap2	C	T	11: 119,847,958 (GRCm39)	R29C	probably damaging	Het
Bicdl2	A	G	17: 23,884,513 (GRCm39)	E145G		Het
Cad	T	C	5: 31,228,018 (GRCm39)		probably null	Het
Dhrs7b	A	G	11: 60,735,121 (GRCm39)	R51G	possibly damaging	Het
Dnah3	A	T	7: 119,670,236 (GRCm39)	Y694N	probably damaging	Het
Dnaja4	G	A	9: 54,616,644 (GRCm39)	G216S	probably null	Het
Dync1h1	T	C	12: 110,607,362 (GRCm39)	V2651A	probably benign	Het
Fbxw28	T	C	9: 109,167,515 (GRCm39)	T81A	probably benign	Het
Fga	A	T	3: 82,940,064 (GRCm39)	I573F	probably damaging	Het
Fgd6	T	A	10: 93,879,674 (GRCm39)	I176N	probably damaging	Het
Fhl5	A	T	4: 25,214,653 (GRCm39)	C41*	probably null	Het
Fibcd1	A	G	2: 31,728,653 (GRCm39)	V68A	probably benign	Het
Fign	T	C	2: 63,810,286 (GRCm39)	D328G	probably benign	Het
Gtpbp10	A	C	5: 5,607,396 (GRCm39)	F15C	probably damaging	Het
Hmcn1	A	T	1: 150,555,346 (GRCm39)	V2475D	probably damaging	Het
Iglv3	A	G	16: 19,060,221 (GRCm39)	S36P	probably damaging	Het
Igsf10	G	T	3: 59,226,869 (GRCm39)	T2268N	probably damaging	Het
Krt75	A	G	15: 101,474,677 (GRCm39)	I473T	probably benign	Het
Lcn3	A	G	2: 25,657,596 (GRCm39)	E162G	possibly damaging	Het
Lnpk	A	G	2: 74,401,298 (GRCm39)	V17A	probably damaging	Het
Malrd1	A	G	2: 15,700,081 (GRCm39)	S643G	unknown	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mlip	T	A	9: 77,045,797 (GRCm39)	L894F	possibly damaging	Het
Muc4	A	T	16: 32,577,234 (GRCm39)	T175S		Het
Nkpd1	A	C	7: 19,257,462 (GRCm39)	I414L	possibly damaging	Het
Nrxn2	C	A	19: 6,540,203 (GRCm39)	N834K	probably damaging	Het
Oacyl	A	G	18: 65,843,599 (GRCm39)	T99A	probably benign	Het
Patj	T	G	4: 98,576,473 (GRCm39)	F570L	probably benign	Het
Piwil4	T	C	9: 14,614,443 (GRCm39)	T107A		Het
Ppp1r12b	G	A	1: 134,824,084 (GRCm39)	Q180*	probably null	Het
Prpf4b	A	G	13: 35,068,032 (GRCm39)	D287G	unknown	Het
Rab17	T	C	1: 90,891,907 (GRCm39)	Y39C	probably damaging	Het
Rbsn	T	A	6: 92,179,565 (GRCm39)	I125F	probably damaging	Het
Rnf207	C	A	4: 152,402,222 (GRCm39)	G74C	probably damaging	Het
Rrs1	T	C	1: 9,616,518 (GRCm39)	L257P	probably benign	Het
Ryr2	T	C	13: 11,683,848 (GRCm39)	E3072G	probably damaging	Het
Scn8a	A	C	15: 100,834,407 (GRCm39)	I68L	possibly damaging	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc26a7	T	A	4: 14,532,636 (GRCm39)	I413F	probably damaging	Het
Slc4a11	T	A	2: 130,530,035 (GRCm39)	T248S	possibly damaging	Het
Spen	A	G	4: 141,215,419 (GRCm39)	I471T	unknown	Het
Tbpl2	C	T	2: 23,977,197 (GRCm39)	D274N	probably damaging	Het
Timm23	A	G	14: 31,902,543 (GRCm39)	M200T	probably benign	Het
Tlr3	T	C	8: 45,850,117 (GRCm39)	I851V	probably benign	Het
Tnfrsf18	T	A	4: 156,113,208 (GRCm39)	V298E	possibly damaging	Het
Trav6-3	A	G	14: 53,667,618 (GRCm39)	N41S	possibly damaging	Het
Trim17	C	A	11: 58,855,964 (GRCm39)	A7D	probably damaging	Het
Ttbk1	T	C	17: 46,758,148 (GRCm39)	T829A	probably damaging	Het
Ugt3a1	A	C	15: 9,361,905 (GRCm39)	E227A	probably damaging	Het
Vmn1r218	C	T	13: 23,320,839 (GRCm39)	T62I	probably benign	Het
Vmn2r100	T	C	17: 19,743,732 (GRCm39)	L465P	probably damaging	Het
Vps13c	A	T	9: 67,841,831 (GRCm39)	Q1951L	probably damaging	Het
Wdcp	A	G	12: 4,900,258 (GRCm39)	D38G	probably damaging	Het
Xdh	T	A	17: 74,231,990 (GRCm39)	Q240L	possibly damaging	Het
Zc3h4	T	A	7: 16,150,751 (GRCm39)	V23D	unknown	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
R1688:Zkscan8	UTSW	13	21,704,324 (GRCm39)	missense	possibly damaging	0.94
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
R9623:Zkscan8	UTSW	13	21,704,763 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCAACAGCTATTTATCTGCATAGG -3'
(R):5'- TGCTGCCCTAGGAAGTAAATG -3'

Sequencing Primer
(F):5'- CTGATGCTAGTTCCTGAATGAGACAG -3'
(R):5'- ATGACATAATATTGCTTGCTTTCCC -3'

Posted On

2022-09-12