Mutagenetix > Incidental Mutation

Incidental Mutation 'R7252:Zfp287'

564019

Institutional Source

Beutler Lab

Gene Symbol

Zfp287

Ensembl Gene

ENSMUSG00000005267

Gene Name

zinc finger protein 287

Synonyms

SKAT-2, B230333C16Rik

MMRRC Submission

045385-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7252 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62591182-62622731 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62615655 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 224 (V224A)

Ref Sequence

ENSEMBL: ENSMUSP00000121717 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005399] [ENSMUST00000128370] [ENSMUST00000149228] [ENSMUST00000150336] [ENSMUST00000185656]

AlphaFold

Q9EQB9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000005399
AA Change: V213A

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000005399
Gene: ENSMUSG00000005267
AA Change: V213A

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: ENSMUST00000128370
AA Change: V213A

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

SMART Domains

Protein: ENSMUSP00000117179
Gene: ENSMUSG00000005267
AA Change: V213A

Domain	Start	End	E-Value	Type
SCAN	27	138	1e-50	SMART
KRAB	155	212	5.79e-20	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000149228
AA Change: V224A

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114531
Gene: ENSMUSG00000005267
AA Change: V224A

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 damaging
Transcript: ENSMUST00000150336
AA Change: V224A

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

SMART Domains

Protein: ENSMUSP00000121717
Gene: ENSMUSG00000005267
AA Change: V224A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000185656
AA Change: V224A

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141046
Gene: ENSMUSG00000005267
AA Change: V224A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

99% (81/82)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930480E11Rik	G	T	X: 77,414,311 (GRCm39)	M345I	probably benign	Het
Abcc2	T	A	19: 43,816,388 (GRCm39)	I1226N	probably damaging	Het
Adarb2	A	G	13: 8,620,216 (GRCm39)	E234G	probably benign	Het
Ankrd52	T	C	10: 128,217,865 (GRCm39)	S282P	probably damaging	Het
Arhgef12	A	T	9: 42,927,205 (GRCm39)	S306R	probably benign	Het
Baiap2	G	T	11: 119,893,865 (GRCm39)	A514S	probably benign	Het
BC030500	T	A	8: 59,364,838 (GRCm39)		probably null	Het
C1qtnf12	T	A	4: 156,047,072 (GRCm39)	W13R	unknown	Het
Ccdc158	A	G	5: 92,798,647 (GRCm39)	V351A	probably benign	Het
Cct8	T	C	16: 87,281,807 (GRCm39)	E485G	probably benign	Het
Cep85	T	C	4: 133,875,342 (GRCm39)	D542G	probably benign	Het
Clhc1	T	A	11: 29,513,937 (GRCm39)	S340R	probably benign	Het
Cnot4	A	T	6: 35,046,362 (GRCm39)	D168E	probably damaging	Het
Cntn5	G	A	9: 9,831,640 (GRCm39)	T375I	probably benign	Het
Ctc1	T	A	11: 68,917,000 (GRCm39)	I298N	probably damaging	Het
Dchs2	T	A	3: 83,232,610 (GRCm39)	N2198K	probably benign	Het
Ddx6	G	A	9: 44,535,050 (GRCm39)		probably null	Het
Defb11	A	G	8: 22,395,473 (GRCm39)	I68T	probably benign	Het
Dip2a	C	T	10: 76,109,036 (GRCm39)	V1212I	not run	Het
Dop1a	T	A	9: 86,382,874 (GRCm39)	I269N	probably damaging	Het
Efna3	C	T	3: 89,223,971 (GRCm39)	G73S	possibly damaging	Het
Fam98b	C	G	2: 117,094,373 (GRCm39)	R228G	probably damaging	Het
Fancd2	A	T	6: 113,533,246 (GRCm39)	N521I	probably damaging	Het
Farsa	A	G	8: 85,587,957 (GRCm39)	D134G	probably damaging	Het
Fat2	A	T	11: 55,202,088 (GRCm39)	F329I	probably damaging	Het
Gm14399	A	T	2: 174,974,991 (GRCm39)	I43K	probably damaging	Het
Gpr15	A	G	16: 58,538,760 (GRCm39)	S110P	probably damaging	Het
Gpr157	T	C	4: 150,183,331 (GRCm39)	V167A	probably benign	Het
Hacd4	A	G	4: 88,345,000 (GRCm39)	I134T	possibly damaging	Het
Hpgd	T	A	8: 56,751,461 (GRCm39)	N96K	probably damaging	Het
Insm2	A	T	12: 55,647,305 (GRCm39)	T350S	probably benign	Het
Iqch	C	T	9: 63,419,518 (GRCm39)		probably null	Het
Kmt2d	A	G	15: 98,742,147 (GRCm39)	S4338P	unknown	Het
Krtap9-3	A	G	11: 99,488,796 (GRCm39)	S29P	probably benign	Het
Kyat3	T	A	3: 142,426,219 (GRCm39)	S87T	probably benign	Het
Minar2	A	G	18: 59,199,980 (GRCm39)		probably null	Het
Mrpl46	T	C	7: 78,430,336 (GRCm39)	T145A	probably benign	Het
Neb	A	G	2: 52,214,973 (GRCm39)		probably null	Het
Or2aj5	A	T	16: 19,425,249 (GRCm39)	H55Q	probably damaging	Het
Or4c124	T	A	2: 89,156,629 (GRCm39)		probably benign	Het
Or6x1	C	T	9: 40,098,657 (GRCm39)	T82I	probably benign	Het
Or7g17	A	G	9: 18,768,548 (GRCm39)	Y200C	probably damaging	Het
Or9a7	A	G	6: 40,521,703 (GRCm39)	I70T	probably benign	Het
Otogl	T	C	10: 107,657,804 (GRCm39)	D1042G	probably benign	Het
Paxip1	C	T	5: 27,965,084 (GRCm39)	V659I	probably damaging	Het
Pfkl	A	G	10: 77,829,263 (GRCm39)	W382R	probably damaging	Het
Pfn1	A	G	11: 70,545,297 (GRCm39)	W4R	probably damaging	Het
Pik3c2b	G	A	1: 133,022,472 (GRCm39)	R1138H	probably benign	Het
Pkd1l3	A	G	8: 110,387,330 (GRCm39)	D1758G	probably benign	Het
Pmpca	G	C	2: 26,285,046 (GRCm39)	E424Q	possibly damaging	Het
Pramel29	T	C	4: 143,939,510 (GRCm39)	D9G	possibly damaging	Het
Prdm12	A	G	2: 31,532,386 (GRCm39)	N132S	possibly damaging	Het
Prokr2	T	A	2: 132,223,360 (GRCm39)	M61L	probably benign	Het
Ralgapa2	T	C	2: 146,184,671 (GRCm39)		probably null	Het
Ralgps1	A	T	2: 33,058,200 (GRCm39)	D301E	probably benign	Het
Rcbtb2	T	C	14: 73,404,220 (GRCm39)	Y231H	probably damaging	Het
Rcc2	G	A	4: 140,429,586 (GRCm39)	C40Y	probably benign	Het
Relb	C	A	7: 19,346,538 (GRCm39)	E345*	probably null	Het
Rhbdl3	A	C	11: 80,228,411 (GRCm39)	M294L	possibly damaging	Het
Rpl24	G	A	16: 55,790,479 (GRCm39)	A112T	possibly damaging	Het
Rsbn1l	C	T	5: 21,113,196 (GRCm39)	R442Q	probably damaging	Het
Rxfp3	A	T	15: 11,036,025 (GRCm39)	I449N	probably benign	Het
Sema4c	A	C	1: 36,589,096 (GRCm39)	C677G	probably damaging	Het
Sf3b3	A	C	8: 111,566,562 (GRCm39)	I256S	probably damaging	Het
Shank1	C	T	7: 43,976,585 (GRCm39)	A561V	unknown	Het
Slc39a6	G	T	18: 24,734,442 (GRCm39)	N82K	possibly damaging	Het
Slc3a2	T	C	19: 8,700,521 (GRCm39)		probably benign	Het
Stard13	T	C	5: 150,986,634 (GRCm39)	Q292R	probably benign	Het
Tgm6	A	G	2: 129,986,884 (GRCm39)	R451G	probably damaging	Het
Tspo	G	T	15: 83,456,466 (GRCm39)	G83V	probably damaging	Het
Ubxn10	T	C	4: 138,448,187 (GRCm39)	Q163R	probably benign	Het
Ushbp1	A	G	8: 71,847,246 (GRCm39)	S129P	probably benign	Het
Vmn2r23	T	A	6: 123,718,540 (GRCm39)	V631D	probably damaging	Het
Vmn2r24	T	C	6: 123,764,191 (GRCm39)	I356T	possibly damaging	Het
Vmn2r84	C	T	10: 130,222,279 (GRCm39)	C647Y	probably damaging	Het
Vps13a	T	C	19: 16,638,428 (GRCm39)	E2356G	probably benign	Het
Wdr64	A	G	1: 175,603,240 (GRCm39)	T614A	probably benign	Het
Zdhhc16	G	T	19: 41,929,990 (GRCm39)	W271L	probably damaging	Het
Zer1	A	C	2: 29,991,904 (GRCm39)	S652A	probably damaging	Het
Zfp438	A	T	18: 5,214,874 (GRCm39)	L28*	probably null	Het
Zfp830	G	A	11: 82,655,534 (GRCm39)	A113T	probably benign	Het
Zfp865	G	T	7: 5,037,416 (GRCm39)		probably benign	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
R4816:Zfp287	UTSW	11	62,605,074 (GRCm39)	missense	probably damaging	1.00
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
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'- TCCCATAAGGCAGCAATGC -3'
(R):5'- CTCCCCAAAAGAAAGGCGTG -3'

Sequencing Primer
(F):5'- AATGCTGACAGCCCTGAGTC -3'
(R):5'- AGTACGGTGCCCAGTACTG -3'

Posted On

2019-06-26