Mutagenetix > Incidental Mutation

Incidental Mutation 'R6533:Zkscan8'

520219

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

044659-MU

Accession Numbers

Essential gene?

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

Stock #

R6533 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21697391-21715284 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21704748 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 325 (F325S)

Ref Sequence

ENSEMBL: ENSMUSP00000153171 (fasta)

Gene Model

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

AlphaFold

Q8BSL0

Predicted Effect

probably damaging
Transcript: ENSMUST00000045228
AA Change: F397S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000040248
Gene: ENSMUSG00000063894
AA Change: F397S

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: F325S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010B08Rik	C	T	2: 173,561,628 (GRCm39)		probably benign	Het
4932414N04Rik	G	T	2: 68,546,662 (GRCm39)	E115*	probably null	Het
Abhd16a	G	A	17: 35,317,785 (GRCm39)		probably null	Het
Ankrd28	T	A	14: 31,454,041 (GRCm39)	I244L	possibly damaging	Het
Barx2	T	C	9: 31,824,275 (GRCm39)	Y38C	probably damaging	Het
Btn2a2	C	A	13: 23,665,951 (GRCm39)	E294*	probably null	Het
Ceacam2	C	G	7: 25,230,136 (GRCm39)	V157L	probably benign	Het
Ces2c	T	A	8: 105,578,725 (GRCm39)	F334L	possibly damaging	Het
Col7a1	T	C	9: 108,790,426 (GRCm39)	I958T	unknown	Het
Dcp2	T	A	18: 44,532,731 (GRCm39)	D82E	probably benign	Het
Dnah8	T	C	17: 30,965,964 (GRCm39)	L2432S	probably damaging	Het
Dst	A	G	1: 34,342,590 (GRCm39)	D7582G	probably benign	Het
Fat3	T	A	9: 15,910,195 (GRCm39)	I1936L	probably benign	Het
Gsdmc4	T	A	15: 63,763,909 (GRCm39)	N396I	probably damaging	Het
Lonrf2	A	C	1: 38,852,349 (GRCm39)	D167E	probably benign	Het
Marf1	T	C	16: 13,933,663 (GRCm39)	D1575G	probably benign	Het
Med23	T	C	10: 24,769,518 (GRCm39)	L101P	probably damaging	Het
Myh3	A	G	11: 66,981,245 (GRCm39)	I703V	probably damaging	Het
Ncan	G	A	8: 70,549,007 (GRCm39)	A1257V	probably benign	Het
Nipal4	A	T	11: 46,041,234 (GRCm39)	Y320*	probably null	Het
Obox5	A	T	7: 15,491,532 (GRCm39)	Q24L	probably benign	Het
Orc1	T	C	4: 108,454,644 (GRCm39)	S345P	probably benign	Het
P4hb	A	T	11: 120,462,469 (GRCm39)	I79N	probably damaging	Het
Phf3	A	T	1: 30,845,399 (GRCm39)	I1262N	probably damaging	Het
Pigo	A	T	4: 43,022,697 (GRCm39)	N291K	probably benign	Het
Ppargc1b	C	T	18: 61,440,845 (GRCm39)	R691H	possibly damaging	Het
Ppm1m	T	C	9: 106,074,069 (GRCm39)		probably benign	Het
Ptprd	A	T	4: 76,046,765 (GRCm39)	D500E	probably damaging	Het
Rab3gap2	T	A	1: 184,965,151 (GRCm39)		probably null	Het
Rnf214	A	G	9: 45,811,361 (GRCm39)	S101P	probably benign	Het
Sdhc	A	G	1: 170,957,396 (GRCm39)	S162P	possibly damaging	Het
Spta1	C	T	1: 174,071,713 (GRCm39)	T2231I	probably damaging	Het
Stxbp2	T	A	8: 3,692,683 (GRCm39)	D578E	probably benign	Het
Tacc2	A	T	7: 130,224,567 (GRCm39)	E417D	possibly damaging	Het
Tas2r144	A	T	6: 42,192,280 (GRCm39)	N7Y	probably benign	Het
Tasp1	A	G	2: 139,676,277 (GRCm39)	*421R	probably null	Het
Tigd5	A	G	15: 75,782,039 (GRCm39)	I134V	possibly damaging	Het
Tmem95	A	T	11: 69,768,843 (GRCm39)	M1K	probably null	Het
Trappc10	T	C	10: 78,024,728 (GRCm39)	M1134V	probably damaging	Het
Unc45a	T	G	7: 79,983,817 (GRCm39)	K326N	probably damaging	Het
Vmn1r59	A	G	7: 5,457,463 (GRCm39)	V99A	probably benign	Het
Vmn2r4	T	C	3: 64,322,519 (GRCm39)	T67A	probably benign	Het
Vmn2r85	A	T	10: 130,262,529 (GRCm39)	M70K	probably benign	Het
Zftraf1	C	A	15: 76,531,930 (GRCm39)	E283*	probably null	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
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'- AAAGCTTCTCCTAAACTCCTGTGC -3'
(R):5'- ACCTTCTGGGCAAACTAGAGAG -3'

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

Posted On

2018-06-06