Mutagenetix > Incidental Mutation

Incidental Mutation 'R7719:Zkscan5'

595108

Institutional Source

Beutler Lab

Gene Symbol

Zkscan5

Ensembl Gene

ENSMUSG00000055991

Gene Name

zinc finger with KRAB and SCAN domains 5

Synonyms

hKraba1, Zfp95

MMRRC Submission

045776-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R7719 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

145141372-145158560 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 145157676 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 726 (H726P)

Ref Sequence

ENSEMBL: ENSMUSP00000082814 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031601] [ENSMUST00000085671] [ENSMUST00000161896]

AlphaFold

Q9Z1D8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031601
AA Change: H653P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000031601
Gene: ENSMUSG00000055991
AA Change: H653P

Domain	Start	End	E-Value	Type
SCAN	46	155	2.18e-69	SMART
ZnF_C2H2	268	290	3.58e-2	SMART
ZnF_C2H2	296	318	9.73e-4	SMART
ZnF_C2H2	324	346	1.45e-2	SMART
ZnF_C2H2	352	374	1.28e-3	SMART
ZnF_C2H2	467	489	1.82e-3	SMART
ZnF_C2H2	495	517	3.63e-3	SMART
ZnF_C2H2	523	545	7.78e-3	SMART
ZnF_C2H2	551	573	9.73e-4	SMART
ZnF_C2H2	579	601	1.08e-1	SMART
ZnF_C2H2	635	657	1.12e-3	SMART
ZnF_C2H2	691	713	5.14e-3	SMART
ZnF_C2H2	719	741	2.4e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000085671
AA Change: H726P

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

SMART Domains

Protein: ENSMUSP00000082814
Gene: ENSMUSG00000055991
AA Change: H726P

Domain	Start	End	E-Value	Type
SCAN	46	155	2.18e-69	SMART
KRAB	216	276	5.35e-3	SMART
ZnF_C2H2	341	363	3.58e-2	SMART
ZnF_C2H2	369	391	9.73e-4	SMART
ZnF_C2H2	397	419	1.45e-2	SMART
ZnF_C2H2	425	447	1.28e-3	SMART
ZnF_C2H2	540	562	1.82e-3	SMART
ZnF_C2H2	568	590	3.63e-3	SMART
ZnF_C2H2	596	618	7.78e-3	SMART
ZnF_C2H2	624	646	9.73e-4	SMART
ZnF_C2H2	652	674	1.08e-1	SMART
ZnF_C2H2	708	730	1.12e-3	SMART
ZnF_C2H2	764	786	5.14e-3	SMART
ZnF_C2H2	792	814	2.4e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161881

SMART Domains

Protein: ENSMUSP00000124544
Gene: ENSMUSG00000055991

Domain	Start	End	E-Value	Type
KRAB	59	118	2.71e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161896

SMART Domains

Protein: ENSMUSP00000124838
Gene: ENSMUSG00000055991

Domain	Start	End	E-Value	Type
SCAN	46	155	1.59e-62	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162168

Meta Mutation Damage Score

0.9422

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (67/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a zinc finger protein of the Kruppel family. The protein contains a SCAN box and a KRAB A domain and may be involved in transcriptional regulation. A similar protein in mouse is differentially expressed in spermatogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd6	T	A	1: 155,562,758 (GRCm39)	L253H	probably damaging	Het
Adam11	T	C	11: 102,663,303 (GRCm39)	V238A	probably benign	Het
Amer3	A	T	1: 34,628,083 (GRCm39)	H774L	possibly damaging	Het
Anapc15	T	C	7: 101,550,236 (GRCm39)	L150P	unknown	Het
Ano8	G	T	8: 71,935,784 (GRCm39)	T278K	possibly damaging	Het
Atg16l2	T	C	7: 100,939,074 (GRCm39)	K618E	probably damaging	Het
Casz1	C	T	4: 149,028,981 (GRCm39)	S1142L	probably damaging	Het
Ccdc30	T	A	4: 119,190,813 (GRCm39)	E471D	probably damaging	Het
Cks1b	T	C	3: 89,323,635 (GRCm39)	N45D	probably benign	Het
Clasrp	T	C	7: 19,321,769 (GRCm39)	T296A	probably damaging	Het
Cluap1	C	T	16: 3,727,467 (GRCm39)		probably null	Het
Cntn5	T	A	9: 9,704,903 (GRCm39)	D632V	probably damaging	Het
Cntnap3	G	A	13: 64,920,591 (GRCm39)	Q593*	probably null	Het
Col18a1	A	T	10: 76,913,846 (GRCm39)	I457K	probably benign	Het
Crybb3	G	T	5: 113,223,834 (GRCm39)	Q192K	probably damaging	Het
Cyb561d2	C	T	9: 107,417,383 (GRCm39)	A123T	probably benign	Het
Cyp2b13	C	T	7: 25,795,095 (GRCm39)	A442V	probably damaging	Het
Cyp2j9	G	A	4: 96,457,079 (GRCm39)	T464I	probably benign	Het
Cyp4a29	G	A	4: 115,108,137 (GRCm39)	G320R	possibly damaging	Het
Dbp	T	C	7: 45,359,174 (GRCm39)	I283T	probably damaging	Het
Efcab3	T	C	11: 105,002,674 (GRCm39)	I303T	probably benign	Het
Efcab8	T	A	2: 153,629,665 (GRCm39)	V166D		Het
Efhc1	A	T	1: 21,049,744 (GRCm39)	I535F	probably benign	Het
Epb41l3	A	G	17: 69,560,409 (GRCm39)	I319V	possibly damaging	Het
Ewsr1	T	C	11: 5,035,900 (GRCm39)	T193A	unknown	Het
Fam227a	T	C	15: 79,504,913 (GRCm39)	N510S	possibly damaging	Het
Frmpd1	T	C	4: 45,284,841 (GRCm39)	C1221R	possibly damaging	Het
Gm6741	A	C	17: 91,544,472 (GRCm39)	E78D	probably benign	Het
Gpam	C	T	19: 55,070,102 (GRCm39)	V385I	probably damaging	Het
Gpr55	A	G	1: 85,869,059 (GRCm39)	V174A	probably benign	Het
Gsdmc	T	C	15: 63,650,813 (GRCm39)		probably null	Het
Hmcn1	T	A	1: 150,441,080 (GRCm39)	D5509V	possibly damaging	Het
Hoxc13	A	T	15: 102,830,293 (GRCm39)	Q224L	possibly damaging	Het
Hunk	A	G	16: 90,293,554 (GRCm39)	D612G	probably benign	Het
Igsf3	G	A	3: 101,342,857 (GRCm39)	R478H	probably damaging	Het
Itgb5	A	G	16: 33,740,486 (GRCm39)	Q532R	probably benign	Het
Jph1	T	C	1: 17,162,215 (GRCm39)	Y149C	probably damaging	Het
Lztfl1	T	C	9: 123,544,395 (GRCm39)	D33G	probably null	Het
Mex3c	G	T	18: 73,723,061 (GRCm39)	A385S	possibly damaging	Het
Myo5a	T	A	9: 75,051,366 (GRCm39)	S320T	probably benign	Het
Nsun4	A	T	4: 115,909,617 (GRCm39)	N314K	possibly damaging	Het
Omg	T	A	11: 79,393,059 (GRCm39)	E266D	probably benign	Het
Or4b12	A	T	2: 90,096,603 (GRCm39)	M57K	probably damaging	Het
Paqr9	T	A	9: 95,442,829 (GRCm39)	V273E	possibly damaging	Het
Phkg1	G	A	5: 129,902,699 (GRCm39)		probably benign	Het
Plekhm3	T	C	1: 64,960,901 (GRCm39)	K452E	probably benign	Het
Plpbp	T	A	8: 27,535,974 (GRCm39)	I86N		Het
Prl2c1	G	T	13: 28,035,780 (GRCm39)	A51S	probably damaging	Het
Prmt8	A	T	6: 127,706,466 (GRCm39)	H108Q	probably damaging	Het
Prrc2b	T	A	2: 32,107,280 (GRCm39)	C1614*	probably null	Het
Ptpdc1	A	G	13: 48,739,766 (GRCm39)	V555A	probably benign	Het
Rassf9	A	G	10: 102,381,461 (GRCm39)	D281G	probably benign	Het
Resf1	T	C	6: 149,228,853 (GRCm39)	I633T	probably benign	Het
Rmnd1	T	C	10: 4,377,496 (GRCm39)	D61G	probably benign	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Ryr2	A	G	13: 11,745,229 (GRCm39)	S2055P	possibly damaging	Het
Six5	G	A	7: 18,830,803 (GRCm39)	A477T	probably damaging	Het
Speg	A	G	1: 75,352,469 (GRCm39)	E129G	probably damaging	Het
Stard10	C	T	7: 100,995,320 (GRCm39)	A78V	not run	Het
Stard3	T	C	11: 98,266,502 (GRCm39)	V127A	probably benign	Het
Svep1	G	A	4: 58,068,523 (GRCm39)	P3088S	probably damaging	Het
Tbck	A	G	3: 132,440,489 (GRCm39)	D508G	probably damaging	Het
Tgm2	T	A	2: 157,985,038 (GRCm39)	T23S	probably damaging	Het
Ttll10	G	T	4: 156,131,665 (GRCm39)		probably null	Het
Vcan	A	T	13: 89,852,738 (GRCm39)	S741T	probably damaging	Het
Vmn2r13	T	C	5: 109,319,618 (GRCm39)	N454S	probably benign	Het
Vmn2r45	T	A	7: 8,486,460 (GRCm39)	E276V	probably damaging	Het
Wnt8a	T	C	18: 34,680,588 (GRCm39)	W318R	probably damaging	Het
Zer1	A	T	2: 30,001,243 (GRCm39)	L87H	probably damaging	Het
Zfp518a	T	A	19: 40,901,212 (GRCm39)	N380K	probably benign	Het
Zfp90	T	C	8: 107,145,725 (GRCm39)	V19A	probably damaging	Het

Other mutations in Zkscan5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03080:Zkscan5	APN	5	145,155,460 (GRCm39)	missense	probably damaging	0.99
R0401:Zkscan5	UTSW	5	145,149,385 (GRCm39)	missense	probably damaging	0.99
R0458:Zkscan5	UTSW	5	145,142,281 (GRCm39)	missense	probably damaging	0.97
R1456:Zkscan5	UTSW	5	145,157,798 (GRCm39)	missense	probably benign	0.03
R1801:Zkscan5	UTSW	5	145,157,015 (GRCm39)	missense	probably damaging	1.00
R2269:Zkscan5	UTSW	5	145,142,277 (GRCm39)	missense	probably damaging	1.00
R2426:Zkscan5	UTSW	5	145,157,750 (GRCm39)	missense	probably benign
R3085:Zkscan5	UTSW	5	145,157,889 (GRCm39)	missense	probably damaging	1.00
R3153:Zkscan5	UTSW	5	145,149,437 (GRCm39)	missense	probably benign
R3725:Zkscan5	UTSW	5	145,157,723 (GRCm39)	missense	probably damaging	0.98
R4479:Zkscan5	UTSW	5	145,147,984 (GRCm39)	intron	probably benign
R4647:Zkscan5	UTSW	5	145,155,640 (GRCm39)	missense	possibly damaging	0.71
R5292:Zkscan5	UTSW	5	145,155,451 (GRCm39)	missense	probably damaging	1.00
R5872:Zkscan5	UTSW	5	145,156,898 (GRCm39)	missense	probably benign
R5873:Zkscan5	UTSW	5	145,157,204 (GRCm39)	missense	possibly damaging	0.71
R5916:Zkscan5	UTSW	5	145,142,112 (GRCm39)	missense	possibly damaging	0.90
R6692:Zkscan5	UTSW	5	145,157,894 (GRCm39)	splice site	probably null
R7092:Zkscan5	UTSW	5	145,156,899 (GRCm39)	missense	probably benign
R7114:Zkscan5	UTSW	5	145,147,988 (GRCm39)	intron	probably benign
R7403:Zkscan5	UTSW	5	145,155,403 (GRCm39)	missense	probably benign	0.31
R7741:Zkscan5	UTSW	5	145,157,847 (GRCm39)	missense	possibly damaging	0.51
R7751:Zkscan5	UTSW	5	145,157,676 (GRCm39)	missense	probably damaging	1.00
R7829:Zkscan5	UTSW	5	145,155,513 (GRCm39)	nonsense	probably null
R7874:Zkscan5	UTSW	5	145,157,676 (GRCm39)	missense	probably damaging	1.00
R7875:Zkscan5	UTSW	5	145,157,676 (GRCm39)	missense	probably damaging	1.00
R7876:Zkscan5	UTSW	5	145,157,676 (GRCm39)	missense	probably damaging	1.00
R7879:Zkscan5	UTSW	5	145,157,676 (GRCm39)	missense	probably damaging	1.00
R7884:Zkscan5	UTSW	5	145,157,676 (GRCm39)	missense	probably damaging	1.00
R7899:Zkscan5	UTSW	5	145,157,676 (GRCm39)	missense	probably damaging	1.00
R7902:Zkscan5	UTSW	5	145,157,676 (GRCm39)	missense	probably damaging	1.00
R7974:Zkscan5	UTSW	5	145,144,502 (GRCm39)	missense	unknown
R8729:Zkscan5	UTSW	5	145,157,071 (GRCm39)	missense	probably benign	0.01
R8778:Zkscan5	UTSW	5	145,155,142 (GRCm39)	missense	probably benign	0.12
R9569:Zkscan5	UTSW	5	145,144,419 (GRCm39)	missense	probably benign	0.03
R9669:Zkscan5	UTSW	5	145,142,136 (GRCm39)	missense	probably benign	0.07
R9737:Zkscan5	UTSW	5	145,142,136 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- AGTCACACCAGTGTCACGAG -3'
(R):5'- CTGATGTTGACTGAGATGGGAC -3'

Sequencing Primer
(F):5'- AGTACGTCAGCCTCCTTGAAC -3'
(R):5'- TTGACTGAGATGGGACTTCAGAC -3'

Posted On

2019-11-12