Mutagenetix > Incidental Mutations

Incidental Mutation 'R4479:Zkscan5'

331391

Institutional Source

Beutler Lab

Gene Symbol

Zkscan5

Ensembl Gene

ENSMUSG00000055991

Gene Name

zinc finger with KRAB and SCAN domains 5

Synonyms

Zfp95, hKraba1

MMRRC Submission

041736-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

R4479 (G1)

Quality Score

161

Status

Validated

Chromosome

Chromosomal Location

145204562-145221750 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 145211174 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124838 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000031601

SMART Domains

Protein: ENSMUSP00000031601
Gene: ENSMUSG00000055991

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 benign
Transcript: ENSMUST00000085671

SMART Domains

Protein: ENSMUSP00000082814
Gene: ENSMUSG00000055991

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

noncoding transcript
Transcript: ENSMUST00000160162

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

unknown
Transcript: ENSMUST00000162168
AA Change: V41A

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

95% (36/38)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	C	7: 46,005,239	T553A	possibly damaging	Het
Adamts20	C	T	15: 94,403,445	R66H	probably damaging	Het
Anks1b	A	G	10: 90,049,892	E150G	probably damaging	Het
Chp2	A	G	7: 122,220,918	D97G	probably benign	Het
Cnbd2	T	C	2: 156,333,653		probably benign	Het
D130040H23Rik	C	A	8: 69,302,503	H187N	possibly damaging	Het
Dusp15	A	G	2: 152,944,182	L135P	probably damaging	Het
Eif4g1	G	T	16: 20,678,843		probably benign	Het
Erlin2	G	T	8: 27,025,099	V10L	probably benign	Het
F830104G03Rik	A	G	3: 56,890,213	S98P	unknown	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Gm3159	T	C	14: 4,398,584	Y92H	probably damaging	Het
Ighv1-22	G	T	12: 114,746,663	A15E	possibly damaging	Het
Ints4	T	C	7: 97,484,971	S37P	probably damaging	Het
Irs1	G	A	1: 82,287,294	T1067I	probably damaging	Het
Lrrc28	C	T	7: 67,531,614		probably null	Het
Olfr1243	A	G	2: 89,528,170	I80T	possibly damaging	Het
Olfr1420	A	G	19: 11,896,558	Y179C	probably damaging	Het
Olfr206	G	A	16: 59,344,867	T278I	probably damaging	Het
Psg18	C	T	7: 18,350,862	S103N	probably benign	Het
Psma3	T	C	12: 70,984,781		probably benign	Het
Slc7a11	T	C	3: 50,417,963		probably benign	Het
Tas2r115	T	C	6: 132,737,532	D152G	probably damaging	Het
Tti1	A	T	2: 158,008,395	L308Q	possibly damaging	Het
Unc93b1	G	A	19: 3,935,236	A15T	probably benign	Het
Usp43	G	A	11: 67,856,407	R820C	possibly damaging	Het
Vmn2r68	TCC	TC	7: 85,221,550		probably null	Het
Vps8	A	T	16: 21,545,236		probably benign	Het
Wdr73	T	C	7: 80,893,221	E213G	probably benign	Het
Zfp286	C	G	11: 62,780,204	G348R	probably damaging	Het

Other mutations in Zkscan5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03080:Zkscan5	APN	5	145218650	missense	probably damaging	0.99
R0401:Zkscan5	UTSW	5	145212575	missense	probably damaging	0.99
R0458:Zkscan5	UTSW	5	145205471	missense	probably damaging	0.97
R1456:Zkscan5	UTSW	5	145220988	missense	probably benign	0.03
R1801:Zkscan5	UTSW	5	145220205	missense	probably damaging	1.00
R2269:Zkscan5	UTSW	5	145205467	missense	probably damaging	1.00
R2426:Zkscan5	UTSW	5	145220940	missense	probably benign
R3085:Zkscan5	UTSW	5	145221079	missense	probably damaging	1.00
R3153:Zkscan5	UTSW	5	145212627	missense	probably benign
R3725:Zkscan5	UTSW	5	145220913	missense	probably damaging	0.98
R4647:Zkscan5	UTSW	5	145218830	missense	possibly damaging	0.71
R5292:Zkscan5	UTSW	5	145218641	missense	probably damaging	1.00
R5872:Zkscan5	UTSW	5	145220088	missense	probably benign
R5873:Zkscan5	UTSW	5	145220394	missense	possibly damaging	0.71
R5916:Zkscan5	UTSW	5	145205302	missense	possibly damaging	0.90
R6692:Zkscan5	UTSW	5	145221084	splice site	probably null
R7092:Zkscan5	UTSW	5	145220089	missense	probably benign
R7114:Zkscan5	UTSW	5	145211178	intron	probably benign
R7403:Zkscan5	UTSW	5	145218593	missense	probably benign	0.31
R7719:Zkscan5	UTSW	5	145220866	missense	probably damaging	1.00
R7741:Zkscan5	UTSW	5	145221037	missense	possibly damaging	0.51
R7751:Zkscan5	UTSW	5	145220866	missense	probably damaging	1.00
R7829:Zkscan5	UTSW	5	145218703	nonsense	probably null
R7874:Zkscan5	UTSW	5	145220866	missense	probably damaging	1.00
R7875:Zkscan5	UTSW	5	145220866	missense	probably damaging	1.00
R7876:Zkscan5	UTSW	5	145220866	missense	probably damaging	1.00
R7879:Zkscan5	UTSW	5	145220866	missense	probably damaging	1.00
R7884:Zkscan5	UTSW	5	145220866	missense	probably damaging	1.00
R7899:Zkscan5	UTSW	5	145220866	missense	probably damaging	1.00
R7902:Zkscan5	UTSW	5	145220866	missense	probably damaging	1.00
R7974:Zkscan5	UTSW	5	145207692	missense	unknown
R8729:Zkscan5	UTSW	5	145220261	missense	probably benign	0.01
R8778:Zkscan5	UTSW	5	145218332	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- CATGTGATAAGCGTCATTCTAGTTG -3'
(R):5'- GTCAAGCTAATCCCTCCTGG -3'

Sequencing Primer
(F):5'- AAGTAGGCCTTGAACTCACTG -3'
(R):5'- CACTCAACTGTGCTTAGGGGAAAC -3'

Posted On

2015-07-21