Mutagenetix > Incidental Mutation

Incidental Mutation 'R4816:Zfp287'

369824

Institutional Source

Beutler Lab

Gene Symbol

Zfp287

Ensembl Gene

ENSMUSG00000005267

Gene Name

zinc finger protein 287

Synonyms

SKAT-2, B230333C16Rik

MMRRC Submission

042434-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4816 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62591182-62622731 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 62605074 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 611 (T611K)

Ref Sequence

ENSEMBL: ENSMUSP00000141046 (fasta)

Gene Model

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

AlphaFold

Q9EQB9

Predicted Effect

probably damaging
Transcript: ENSMUST00000005399
AA Change: T600K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000005399
Gene: ENSMUSG00000005267
AA Change: T600K

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: T611K

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

SMART Domains

Protein: ENSMUSP00000114531
Gene: ENSMUSG00000005267
AA Change: T611K

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: T611K

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

SMART Domains

Protein: ENSMUSP00000141046
Gene: ENSMUSG00000005267
AA Change: T611K

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

0.1655

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

97% (113/116)

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: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	C	A	7: 45,754,131 (GRCm39)	A1562S	probably benign	Het
Adam30	C	A	3: 98,070,061 (GRCm39)	D631E	possibly damaging	Het
Adgrv1	T	C	13: 81,676,793 (GRCm39)	T2013A	probably damaging	Het
Ark2n	A	T	18: 77,740,995 (GRCm39)		probably null	Het
Baiap3	T	A	17: 25,466,269 (GRCm39)		probably benign	Het
Bicra	T	C	7: 15,722,831 (GRCm39)	T229A	possibly damaging	Het
C1qbp	A	G	11: 70,873,190 (GRCm39)		probably benign	Het
C2cd3	C	A	7: 100,040,226 (GRCm39)	T265K	probably benign	Het
Cacna1s	T	A	1: 136,043,007 (GRCm39)	I1331K	possibly damaging	Het
Cdadc1	AGACGGA	AGA	14: 59,806,440 (GRCm39)		probably null	Het
Cdcp2	A	G	4: 106,963,969 (GRCm39)	Y273C	probably damaging	Het
Cdh23	A	C	10: 60,244,856 (GRCm39)	V1013G	possibly damaging	Het
Celf3	T	A	3: 94,386,529 (GRCm39)	I39N	probably damaging	Het
Cep152	A	C	2: 125,405,674 (GRCm39)	S1619R	probably damaging	Het
Cfap36	A	G	11: 29,195,108 (GRCm39)	I42T	probably damaging	Het
Cfap61	G	T	2: 145,985,020 (GRCm39)	V955L	probably damaging	Het
Cit	G	A	5: 116,046,750 (GRCm39)	D388N	probably damaging	Het
Clca3a2	T	C	3: 144,516,613 (GRCm39)	M328V	probably benign	Het
Cntn4	A	T	6: 106,527,458 (GRCm39)	I447L	probably benign	Het
Csmd3	T	C	15: 47,721,330 (GRCm39)	T1538A	possibly damaging	Het
Cstf1	A	G	2: 172,214,905 (GRCm39)	K9E	probably damaging	Het
Dip2c	T	A	13: 9,625,186 (GRCm39)	M560K	probably benign	Het
Dsg1a	A	T	18: 20,466,779 (GRCm39)	T550S	probably benign	Het
Dtnb	A	G	12: 3,799,505 (GRCm39)	E460G	probably damaging	Het
Dus1l	GAGGTAAG	GAG	11: 120,680,584 (GRCm39)		probably benign	Het
Efl1	T	A	7: 82,320,927 (GRCm39)	V120E	probably damaging	Het
Fbxl13	T	C	5: 21,689,001 (GRCm39)	Y769C	probably benign	Het
Fcho2	T	C	13: 98,942,874 (GRCm39)	Y22C	probably damaging	Het
Flacc1	G	A	1: 58,709,567 (GRCm39)	A196V	probably benign	Het
Gbp3	T	C	3: 142,273,335 (GRCm39)	V294A	probably damaging	Het
Gls	A	G	1: 52,239,104 (GRCm39)		probably benign	Het
Gm15130	A	T	2: 110,965,714 (GRCm39)		probably benign	Het
Gm6185	A	T	1: 161,040,728 (GRCm39)		noncoding transcript	Het
Gpr171	T	A	3: 59,005,517 (GRCm39)	H86L	probably damaging	Het
Gpr179	T	C	11: 97,230,074 (GRCm39)	T694A	probably damaging	Het
H2-Aa	A	T	17: 34,502,794 (GRCm39)	V124E	probably damaging	Het
H2bc13	A	G	13: 21,900,135 (GRCm39)	M60T	probably benign	Het
H2-M5	A	G	17: 37,300,309 (GRCm39)		probably benign	Het
Igf2r	A	T	17: 12,902,984 (GRCm39)	N2355K	probably damaging	Het
Il9r	A	C	11: 32,142,654 (GRCm39)	S295A	possibly damaging	Het
Ipo9	T	C	1: 135,334,288 (GRCm39)	T313A	probably benign	Het
Kalrn	C	T	16: 34,334,389 (GRCm39)		probably benign	Het
Lama3	G	A	18: 12,610,661 (GRCm39)	V1175M	possibly damaging	Het
Lhpp	T	A	7: 132,272,104 (GRCm39)	C242*	probably null	Het
Lipe	A	G	7: 25,079,568 (GRCm39)	S1013P	probably damaging	Het
Lrrc25	C	T	8: 71,070,726 (GRCm39)	T169I	probably benign	Het
Lrrc39	T	C	3: 116,362,515 (GRCm39)		probably null	Het
Lrrd1	T	A	5: 3,901,126 (GRCm39)	L477*	probably null	Het
Lrriq4	A	G	3: 30,714,196 (GRCm39)	I515V	possibly damaging	Het
Magel2	A	G	7: 62,030,840 (GRCm39)	Y1248C	unknown	Het
Maml1	G	T	11: 50,149,162 (GRCm39)	N859K	possibly damaging	Het
Mdm1	A	T	10: 117,982,782 (GRCm39)	H139L	possibly damaging	Het
Mef2d	C	T	3: 88,075,397 (GRCm39)	P420S	possibly damaging	Het
Mgat4b	A	G	11: 50,101,848 (GRCm39)	K38E	probably benign	Het
Mtmr4	T	C	11: 87,494,923 (GRCm39)	V405A	probably damaging	Het
Naip5	G	A	13: 100,356,195 (GRCm39)	T1140M	probably benign	Het
Naip5	T	C	13: 100,356,204 (GRCm39)	Q1137R	probably benign	Het
Naip5	G	A	13: 100,356,189 (GRCm39)	S1142F	probably benign	Het
Nfe2l3	T	C	6: 51,433,604 (GRCm39)	S239P	probably damaging	Het
Nlrp3	A	G	11: 59,439,127 (GRCm39)	I235V	probably benign	Het
Nyap2	T	A	1: 81,219,028 (GRCm39)	L318Q	probably damaging	Het
Nynrin	G	A	14: 56,109,458 (GRCm39)	V1522M	probably damaging	Het
Oog3	A	G	4: 143,885,731 (GRCm39)	L289P	probably damaging	Het
Or52n20	C	T	7: 104,319,942 (GRCm39)	P11L	probably benign	Het
Or5b107	A	G	19: 13,142,488 (GRCm39)	I37V	probably benign	Het
Or6c69b	T	C	10: 129,627,308 (GRCm39)	D50G	probably damaging	Het
Or8b12b	T	A	9: 37,684,726 (GRCm39)	M257K	possibly damaging	Het
Or9g20	A	T	2: 85,630,391 (GRCm39)	N74K	probably benign	Het
Pax6	T	C	2: 105,514,129 (GRCm39)		probably benign	Het
Pbrm1	G	A	14: 30,832,405 (GRCm39)	R1441K	probably benign	Het
Pcdha9	C	T	18: 37,132,511 (GRCm39)	R527W	probably damaging	Het
Pcdhb17	T	C	18: 37,620,450 (GRCm39)	S747P	probably benign	Het
Pcnx3	A	C	19: 5,738,023 (GRCm39)		probably null	Het
Pds5a	A	T	5: 65,808,632 (GRCm39)	V413E	probably damaging	Het
Phpt1	G	T	2: 25,464,332 (GRCm39)		probably benign	Het
Phykpl	A	G	11: 51,483,780 (GRCm39)	E220G	probably benign	Het
Pias2	T	C	18: 77,193,587 (GRCm39)		probably null	Het
Pkhd1	T	A	1: 20,269,639 (GRCm39)	I3302L	probably damaging	Het
Poli	A	G	18: 70,655,822 (GRCm39)	L241P	probably damaging	Het
Ppm1h	T	A	10: 122,515,284 (GRCm39)	I65N	possibly damaging	Het
Ptpn14	T	C	1: 189,588,997 (GRCm39)	L954P	probably damaging	Het
Pxk	T	G	14: 8,136,893 (GRCm38)	M138R	probably damaging	Het
Rasl11b	G	T	5: 74,359,058 (GRCm39)	D188Y	probably damaging	Het
Rtraf	A	G	14: 19,872,644 (GRCm39)	F59S	probably benign	Het
Sanbr	A	C	11: 23,565,243 (GRCm39)	I248S	possibly damaging	Het
Serpinb5	G	T	1: 106,800,069 (GRCm39)	L86F	probably damaging	Het
Setdb2	G	A	14: 59,651,095 (GRCm39)	T412I	probably benign	Het
Shank2	C	A	7: 143,606,043 (GRCm39)	N75K	probably damaging	Het
Shank3	T	A	15: 89,427,318 (GRCm39)	I791N	probably damaging	Het
Slc25a13	T	A	6: 6,114,274 (GRCm39)	M213L	possibly damaging	Het
Slc25a21	T	C	12: 56,760,623 (GRCm39)	Y298C	probably damaging	Het
Slc34a2	A	G	5: 53,226,362 (GRCm39)	N495S	probably damaging	Het
Smc2	A	G	4: 52,451,231 (GRCm39)	T292A	probably benign	Het
Spag9	T	C	11: 93,939,425 (GRCm39)		probably benign	Het
Tas2r113	C	T	6: 132,870,745 (GRCm39)	P258S	probably benign	Het
Tbkbp1	T	C	11: 97,029,567 (GRCm39)	S530G	probably benign	Het
Tenm2	A	G	11: 35,918,117 (GRCm39)	V1881A	probably damaging	Het
Tm9sf1	C	T	14: 55,878,606 (GRCm39)	R262Q	possibly damaging	Het
Tmcc3	G	T	10: 94,414,646 (GRCm39)	G147V	possibly damaging	Het
Trim38	A	T	13: 23,972,264 (GRCm39)	E195V	probably damaging	Het
Try5	T	C	6: 41,290,349 (GRCm39)	Y45C	probably benign	Het
Umad1	A	C	6: 8,457,462 (GRCm39)		probably benign	Het
Vmn2r105	T	C	17: 20,428,953 (GRCm39)	I708V	probably benign	Het
Zc3h12d	A	T	10: 7,743,711 (GRCm39)	S494C	probably damaging	Het
Zeb2	A	G	2: 44,887,780 (GRCm39)	S382P	probably damaging	Het
Zfc3h1	A	G	10: 115,251,599 (GRCm39)	S1304G	probably benign	Het
Zfp534	G	A	4: 147,758,743 (GRCm39)	T642I	possibly damaging	Het

Other mutations in Zfp287

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01084:Zfp287	APN	11	62,604,716 (GRCm39)	nonsense	probably null
IGL01868:Zfp287	APN	11	62,606,083 (GRCm39)	missense	probably benign	0.22
IGL03290:Zfp287	APN	11	62,606,062 (GRCm39)	missense	probably damaging	0.98
R0064:Zfp287	UTSW	11	62,605,764 (GRCm39)	missense	possibly damaging	0.68
R0064:Zfp287	UTSW	11	62,605,764 (GRCm39)	missense	possibly damaging	0.68
R0193:Zfp287	UTSW	11	62,605,855 (GRCm39)	missense	probably benign	0.12
R0211:Zfp287	UTSW	11	62,605,743 (GRCm39)	missense	probably damaging	0.99
R0211:Zfp287	UTSW	11	62,605,743 (GRCm39)	missense	probably damaging	0.99
R0525:Zfp287	UTSW	11	62,606,070 (GRCm39)	missense	probably benign
R0725:Zfp287	UTSW	11	62,605,039 (GRCm39)	missense	probably damaging	1.00
R1405:Zfp287	UTSW	11	62,619,137 (GRCm39)	missense	probably damaging	1.00
R1405:Zfp287	UTSW	11	62,619,137 (GRCm39)	missense	probably damaging	1.00
R1416:Zfp287	UTSW	11	62,605,166 (GRCm39)	missense	probably damaging	1.00
R1487:Zfp287	UTSW	11	62,616,115 (GRCm39)	missense	probably damaging	1.00
R2023:Zfp287	UTSW	11	62,605,808 (GRCm39)	nonsense	probably null
R2045:Zfp287	UTSW	11	62,618,395 (GRCm39)	missense	probably damaging	1.00
R2495:Zfp287	UTSW	11	62,605,459 (GRCm39)	missense	probably damaging	1.00
R3794:Zfp287	UTSW	11	62,605,070 (GRCm39)	missense	probably damaging	1.00
R3902:Zfp287	UTSW	11	62,603,028 (GRCm39)	missense	probably benign	0.00
R4928:Zfp287	UTSW	11	62,604,962 (GRCm39)	nonsense	probably null
R5048:Zfp287	UTSW	11	62,605,777 (GRCm39)	missense	probably damaging	0.98
R5858:Zfp287	UTSW	11	62,604,833 (GRCm39)	missense	probably damaging	1.00
R6349:Zfp287	UTSW	11	62,616,168 (GRCm39)	missense	probably damaging	0.99
R6964:Zfp287	UTSW	11	62,615,643 (GRCm39)	missense	probably damaging	1.00
R7024:Zfp287	UTSW	11	62,605,764 (GRCm39)	missense	possibly damaging	0.68
R7252:Zfp287	UTSW	11	62,615,655 (GRCm39)	missense	probably damaging	1.00
R7318:Zfp287	UTSW	11	62,605,104 (GRCm39)	missense	probably damaging	1.00
R7548:Zfp287	UTSW	11	62,604,701 (GRCm39)	nonsense	probably null
R7658:Zfp287	UTSW	11	62,616,089 (GRCm39)	missense	probably damaging	1.00
R8916:Zfp287	UTSW	11	62,605,136 (GRCm39)	nonsense	probably null
R9295:Zfp287	UTSW	11	62,606,115 (GRCm39)	missense	probably benign	0.12
Z1186:Zfp287	UTSW	11	62,613,757 (GRCm39)	nonsense	probably null
Z1186:Zfp287	UTSW	11	62,606,175 (GRCm39)	missense	probably benign
Z1186:Zfp287	UTSW	11	62,604,633 (GRCm39)	missense	probably benign	0.00
Z1187:Zfp287	UTSW	11	62,613,757 (GRCm39)	nonsense	probably null
Z1187:Zfp287	UTSW	11	62,606,175 (GRCm39)	missense	probably benign
Z1187:Zfp287	UTSW	11	62,604,633 (GRCm39)	missense	probably benign	0.00
Z1188:Zfp287	UTSW	11	62,613,757 (GRCm39)	nonsense	probably null
Z1188:Zfp287	UTSW	11	62,606,175 (GRCm39)	missense	probably benign
Z1188:Zfp287	UTSW	11	62,604,633 (GRCm39)	missense	probably benign	0.00
Z1189:Zfp287	UTSW	11	62,606,175 (GRCm39)	missense	probably benign
Z1189:Zfp287	UTSW	11	62,604,633 (GRCm39)	missense	probably benign	0.00
Z1189:Zfp287	UTSW	11	62,613,757 (GRCm39)	nonsense	probably null
Z1190:Zfp287	UTSW	11	62,613,757 (GRCm39)	nonsense	probably null
Z1190:Zfp287	UTSW	11	62,606,175 (GRCm39)	missense	probably benign
Z1190:Zfp287	UTSW	11	62,604,633 (GRCm39)	missense	probably benign	0.00
Z1191:Zfp287	UTSW	11	62,613,757 (GRCm39)	nonsense	probably null
Z1191:Zfp287	UTSW	11	62,606,175 (GRCm39)	missense	probably benign
Z1191:Zfp287	UTSW	11	62,604,633 (GRCm39)	missense	probably benign	0.00
Z1192:Zfp287	UTSW	11	62,613,757 (GRCm39)	nonsense	probably null
Z1192:Zfp287	UTSW	11	62,606,175 (GRCm39)	missense	probably benign
Z1192:Zfp287	UTSW	11	62,604,633 (GRCm39)	missense	probably benign	0.00

Predicted Primers

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

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

Posted On

2016-02-04