Mutagenetix > Incidental Mutation

Incidental Mutation 'R7837:Zkscan8'

606062

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

045891-MU

Accession Numbers

Essential gene?

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

Stock #

R7837 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21697391-21715284 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21704598 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 447 (N447I)

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: N447I

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000040248
Gene: ENSMUSG00000063894
AA Change: N447I

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: N375I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	T	C	4: 144,344,547 (GRCm39)	S108P	probably damaging	Het
Acox3	A	G	5: 35,768,830 (GRCm39)		probably null	Het
Adam22	T	A	5: 8,199,284 (GRCm39)		probably null	Het
Adgrb3	T	C	1: 25,167,915 (GRCm39)	Y1007C	probably damaging	Het
Anapc4	T	A	5: 53,016,550 (GRCm39)		probably null	Het
Aoc1	T	A	6: 48,882,584 (GRCm39)	Y153*	probably null	Het
Armc1	A	T	3: 19,198,633 (GRCm39)	I109N	probably benign	Het
Bcl2	A	C	1: 106,471,086 (GRCm39)	F207V	possibly damaging	Het
Btd	C	A	14: 31,388,784 (GRCm39)	S168R	possibly damaging	Het
Cage1	A	T	13: 38,206,381 (GRCm39)	M488K	not run	Het
Cemip2	T	A	19: 21,775,385 (GRCm39)	D209E	probably benign	Het
Cenpj	T	C	14: 56,796,185 (GRCm39)	N224S	probably benign	Het
Cln6	T	C	9: 62,756,330 (GRCm39)	V81A		Het
Crispld1	T	A	1: 17,798,954 (GRCm39)	V25E	probably benign	Het
Dnah12	A	G	14: 26,518,176 (GRCm39)	T1808A	probably benign	Het
Dnm3	C	T	1: 161,819,619 (GRCm39)	R851H	possibly damaging	Het
Dtx3l	T	A	16: 35,751,896 (GRCm39)	N675I	probably damaging	Het
Dusp28	A	G	1: 92,835,405 (GRCm39)	E163G	probably benign	Het
Ecd	A	T	14: 20,383,400 (GRCm39)	F346L	probably damaging	Het
F5	G	A	1: 164,014,363 (GRCm39)	V545M	probably damaging	Het
Gm19410	A	T	8: 36,276,134 (GRCm39)	Y1597F	possibly damaging	Het
Gm4559	C	T	7: 141,827,553 (GRCm39)	R183K	unknown	Het
Gria2	A	T	3: 80,618,095 (GRCm39)	N313K	probably benign	Het
Igkv13-84	C	T	6: 68,916,793 (GRCm39)	S30F	possibly damaging	Het
Kcnh6	C	A	11: 105,924,636 (GRCm39)	H867N	probably benign	Het
Krt82	T	C	15: 101,456,792 (GRCm39)	Q196R	possibly damaging	Het
Mbd4	T	C	6: 115,826,500 (GRCm39)	N164D	probably benign	Het
Mrgpra1	A	T	7: 46,985,076 (GRCm39)	M201K	possibly damaging	Het
Msh6	G	A	17: 88,292,094 (GRCm39)	G283E	probably damaging	Het
Msr1	C	T	8: 40,034,873 (GRCm39)	C426Y	probably damaging	Het
Muc5ac	A	G	7: 141,369,700 (GRCm39)	H3149R	possibly damaging	Het
Nr1i2	T	C	16: 38,074,146 (GRCm39)	M156V	probably benign	Het
Ogdhl	T	C	14: 32,068,415 (GRCm39)	V884A	possibly damaging	Het
Or13a21	T	C	7: 139,999,234 (GRCm39)	I151V	probably benign	Het
Or4c102	A	T	2: 88,422,723 (GRCm39)	I192F	possibly damaging	Het
Or4k15b	T	A	14: 50,272,033 (GRCm39)	T276S	probably damaging	Het
Or51ag1	A	T	7: 103,156,052 (GRCm39)	C34S	possibly damaging	Het
Pakap	A	G	4: 57,855,262 (GRCm39)	D197G	probably damaging	Het
Pcnx4	C	A	12: 72,602,892 (GRCm39)	L385M	probably damaging	Het
Pgap4	A	T	4: 49,586,262 (GRCm39)	M302K	probably damaging	Het
Plscr4	T	A	9: 92,366,976 (GRCm39)	C197S	probably damaging	Het
Rin3	A	G	12: 102,335,024 (GRCm39)	T312A	unknown	Het
Septin7	T	A	9: 25,199,531 (GRCm39)	N143K	possibly damaging	Het
Sgk2	A	G	2: 162,845,216 (GRCm39)	K208E	probably damaging	Het
Slc4a5	A	T	6: 83,238,539 (GRCm39)	T236S	probably benign	Het
Sptbn1	A	G	11: 30,088,832 (GRCm39)	L810P	probably damaging	Het
Stard9	A	G	2: 120,534,146 (GRCm39)	S3468G	probably benign	Het
Tarbp1	T	C	8: 127,201,300 (GRCm39)	S169G	probably benign	Het
Tex56	A	T	13: 35,128,359 (GRCm39)	Q192L	possibly damaging	Het
Tssk2	T	C	16: 17,716,615 (GRCm39)	V6A	possibly damaging	Het
Ttll4	A	T	1: 74,720,916 (GRCm39)		probably null	Het
Ubr4	C	T	4: 139,120,462 (GRCm39)	R296*	probably null	Het
Wscd2	G	T	5: 113,710,394 (GRCm39)	C306F	probably damaging	Het
Zbtb43	C	T	2: 33,343,981 (GRCm39)	G378R	probably damaging	Het
Zdhhc12	A	T	2: 29,981,709 (GRCm39)	V165E	probably damaging	Het
Zfp59	GAAA	GAAAAA	7: 27,554,342 (GRCm39)		probably null	Het
Zfp943	A	T	17: 22,211,346 (GRCm39)	Y144F	probably benign	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
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'- AAAGCTTCTCCTAAACTCCTGTG -3'
(R):5'- AGGAATGTGGTAAGGCCTTCAG -3'

Sequencing Primer
(F):5'- GTGCTGAATGAGACCAGTATTCCC -3'
(R):5'- TTCAGTCAGAACACAGGCTTG -3'

Posted On

2019-12-20