Mutagenetix > Incidental Mutations

Incidental Mutation 'R3794:Zfp287'

272693

Institutional Source

Beutler Lab

Gene Symbol

Zfp287

Ensembl Gene

ENSMUSG00000005267

Gene Name

zinc finger protein 287

Synonyms

B230333C16Rik, SKAT-2

MMRRC Submission

040756-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3794 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62700356-62731905 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 62714244 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 612 (H612Q)

Ref Sequence

ENSEMBL: ENSMUSP00000141046 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005399] [ENSMUST00000149228] [ENSMUST00000150336] [ENSMUST00000185656]

Predicted Effect

probably damaging
Transcript: ENSMUST00000005399
AA Change: H601Q

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

SMART Domains

Protein: ENSMUSP00000005399
Gene: ENSMUSG00000005267
AA Change: H601Q

Domain	Start	End	E-Value	Type
SCAN	27	138	1e-50	SMART
KRAB	155	212	5.79e-20	SMART
low complexity region	253	262	N/A	INTRINSIC
ZnF_C2H2	355	377	5.9e-3	SMART
ZnF_C2H2	383	405	2.61e-4	SMART
ZnF_C2H2	411	433	5.59e-4	SMART
ZnF_C2H2	439	461	3.44e-4	SMART
ZnF_C2H2	467	489	9.73e-4	SMART
ZnF_C2H2	495	517	2.43e-4	SMART
ZnF_C2H2	523	545	4.54e-4	SMART
ZnF_C2H2	551	573	2.57e-3	SMART
ZnF_C2H2	579	601	4.87e-4	SMART
ZnF_C2H2	607	629	1.3e-4	SMART
ZnF_C2H2	635	657	4.79e-3	SMART
ZnF_C2H2	663	685	2.95e-3	SMART
ZnF_C2H2	691	713	3.63e-3	SMART
ZnF_C2H2	719	741	1.38e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000149228
AA Change: H612Q

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

SMART Domains

Protein: ENSMUSP00000114531
Gene: ENSMUSG00000005267
AA Change: H612Q

Domain	Start	End	E-Value	Type
SCAN	38	149	1e-50	SMART
KRAB	166	223	5.79e-20	SMART
low complexity region	264	273	N/A	INTRINSIC
ZnF_C2H2	366	388	5.9e-3	SMART
ZnF_C2H2	394	416	2.61e-4	SMART
ZnF_C2H2	422	444	5.59e-4	SMART
ZnF_C2H2	450	472	3.44e-4	SMART
ZnF_C2H2	478	500	9.73e-4	SMART
ZnF_C2H2	506	528	2.43e-4	SMART
ZnF_C2H2	534	556	4.54e-4	SMART
ZnF_C2H2	562	584	2.57e-3	SMART
ZnF_C2H2	590	612	4.87e-4	SMART
ZnF_C2H2	618	640	1.3e-4	SMART
ZnF_C2H2	646	668	4.79e-3	SMART
ZnF_C2H2	674	696	2.95e-3	SMART
ZnF_C2H2	702	724	3.63e-3	SMART
ZnF_C2H2	730	752	1.38e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000150336

SMART Domains

Protein: ENSMUSP00000121717
Gene: ENSMUSG00000005267

Domain	Start	End	E-Value	Type
SCAN	38	149	1e-50	SMART
KRAB	166	223	5.79e-20	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000185656
AA Change: H612Q

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

SMART Domains

Protein: ENSMUSP00000141046
Gene: ENSMUSG00000005267
AA Change: H612Q

Domain	Start	End	E-Value	Type
SCAN	38	149	1e-50	SMART
KRAB	166	223	5.79e-20	SMART
low complexity region	264	273	N/A	INTRINSIC
ZnF_C2H2	366	388	5.9e-3	SMART
ZnF_C2H2	394	416	2.61e-4	SMART
ZnF_C2H2	422	444	5.59e-4	SMART
ZnF_C2H2	450	472	3.44e-4	SMART
ZnF_C2H2	478	500	9.73e-4	SMART
ZnF_C2H2	506	528	2.43e-4	SMART
ZnF_C2H2	534	556	4.54e-4	SMART
ZnF_C2H2	562	584	2.57e-3	SMART
ZnF_C2H2	590	612	4.87e-4	SMART
ZnF_C2H2	618	640	1.3e-4	SMART
ZnF_C2H2	646	668	4.79e-3	SMART
ZnF_C2H2	674	696	2.95e-3	SMART
ZnF_C2H2	702	724	3.63e-3	SMART
ZnF_C2H2	730	752	1.38e-3	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (37/38)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the krueppel family of zinc finger proteins, suggesting a role as a transcription factor. Its specific function has not been determined. This gene is located near the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933403O08Rik	T	G	X: 112,240,678	M1R	probably null	Het
Adcy6	C	T	15: 98,598,943	V482I	probably damaging	Het
Adgrv1	T	A	13: 81,283,367	M1L	probably damaging	Het
Ceacam13	A	G	7: 18,013,415	*264W	probably null	Het
D430042O09Rik	A	G	7: 125,820,089	N476S	probably benign	Het
Dennd5b	A	T	6: 149,101,217	D31E	possibly damaging	Het
Dip2c	T	C	13: 9,604,561	V706A	probably damaging	Het
Enpp3	T	C	10: 24,831,732		probably null	Het
Exoc4	T	G	6: 33,475,997	V474G	probably benign	Het
F2rl1	A	G	13: 95,513,211	Y388H	unknown	Het
Fasl	T	C	1: 161,781,737	R17G	probably benign	Het
Htr1a	G	A	13: 105,444,344	V31M	possibly damaging	Het
Inpp4b	T	C	8: 82,033,216	V445A	probably damaging	Het
Itih3	T	C	14: 30,918,394	Y319C	probably damaging	Het
Kmt2d	T	C	15: 98,837,359		probably benign	Het
Mobp	A	T	9: 120,167,967	K55*	probably null	Het
Ndufaf5	T	A	2: 140,202,923	M279K	possibly damaging	Het
Nlrc3	T	C	16: 3,947,875	I1057V	probably benign	Het
Olfr1217	G	T	2: 89,023,426	H192Q	probably benign	Het
Olfr129	A	G	17: 38,054,895	Y224H	probably damaging	Het
Piezo2	C	T	18: 63,081,793	R1257Q	probably damaging	Het
Pigv	A	G	4: 133,665,191	S223P	possibly damaging	Het
Pkdcc	A	G	17: 83,223,953	T464A	probably damaging	Het
Polr2k	A	G	15: 36,175,047	I18V	probably damaging	Het
Pon3	A	G	6: 5,221,578	Y351H	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Scaf8	A	G	17: 3,190,249	E632G	probably damaging	Het
Smurf1	A	G	5: 144,901,175		probably null	Het
Tcrg-V5	A	T	13: 19,192,524	H47L	probably benign	Het
Tln1	G	T	4: 43,536,295	A1999D	probably damaging	Het
Ttn	C	T	2: 76,942,437	V2405I	possibly damaging	Het
Vps13d	G	A	4: 145,085,437		probably benign	Het
Xrcc1	A	G	7: 24,570,560	T469A	probably benign	Het
Zfp352	C	T	4: 90,225,149	H509Y	probably damaging	Het

Other mutations in Zfp287

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01084:Zfp287	APN	11	62713890	nonsense	probably null
IGL01868:Zfp287	APN	11	62715257	missense	probably benign	0.22
IGL03290:Zfp287	APN	11	62715236	missense	probably damaging	0.98
R0064:Zfp287	UTSW	11	62714938	missense	possibly damaging	0.68
R0064:Zfp287	UTSW	11	62714938	missense	possibly damaging	0.68
R0193:Zfp287	UTSW	11	62715029	missense	probably benign	0.12
R0211:Zfp287	UTSW	11	62714917	missense	probably damaging	0.99
R0211:Zfp287	UTSW	11	62714917	missense	probably damaging	0.99
R0525:Zfp287	UTSW	11	62715244	missense	probably benign
R0725:Zfp287	UTSW	11	62714213	missense	probably damaging	1.00
R1405:Zfp287	UTSW	11	62728311	missense	probably damaging	1.00
R1405:Zfp287	UTSW	11	62728311	missense	probably damaging	1.00
R1416:Zfp287	UTSW	11	62714340	missense	probably damaging	1.00
R1487:Zfp287	UTSW	11	62725289	missense	probably damaging	1.00
R2023:Zfp287	UTSW	11	62714982	nonsense	probably null
R2045:Zfp287	UTSW	11	62727569	missense	probably damaging	1.00
R2495:Zfp287	UTSW	11	62714633	missense	probably damaging	1.00
R3902:Zfp287	UTSW	11	62712202	missense	probably benign	0.00
R4816:Zfp287	UTSW	11	62714248	missense	probably damaging	1.00
R4928:Zfp287	UTSW	11	62714136	nonsense	probably null
R5048:Zfp287	UTSW	11	62714951	missense	probably damaging	0.98
R5858:Zfp287	UTSW	11	62714007	missense	probably damaging	1.00
R6349:Zfp287	UTSW	11	62725342	missense	probably damaging	0.99
R6964:Zfp287	UTSW	11	62724817	missense	probably damaging	1.00
R7024:Zfp287	UTSW	11	62714938	missense	possibly damaging	0.68
R7252:Zfp287	UTSW	11	62724829	missense	probably damaging	1.00
R7318:Zfp287	UTSW	11	62714278	missense	probably damaging	1.00
R7548:Zfp287	UTSW	11	62713875	nonsense	probably null
R7658:Zfp287	UTSW	11	62725263	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCCGTTGGTGCTGAGTC -3'
(R):5'- AAGAATTTAAGCATCTCTCCTCCC -3'

Sequencing Primer
(F):5'- TGAGTCAGGTTTGCACCC -3'
(R):5'- CTGGAGTGCAGTAAAACCTTTAGCC -3'

Posted On

2015-03-25