Mutagenetix > Incidental Mutation

Incidental Mutation 'R0211:Zfp287'

35546

Institutional Source

Beutler Lab

Gene Symbol

Zfp287

Ensembl Gene

ENSMUSG00000005267

Gene Name

zinc finger protein 287

Synonyms

SKAT-2, B230333C16Rik

MMRRC Submission

038462-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0211 (G1)

Quality Score

141

Status

Not validated

Chromosome

Chromosomal Location

62591182-62622731 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62605743 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 388 (H388R)

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: H377R

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000005399
Gene: ENSMUSG00000005267
AA Change: H377R

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: H388R

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114531
Gene: ENSMUSG00000005267
AA Change: H388R

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: H388R

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141046
Gene: ENSMUSG00000005267
AA Change: H388R

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: 98.2%
3x: 97.0%
10x: 94.6%
20x: 89.0%

Validation Efficiency

100% (1/1)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,262,870 (GRCm39)	L1401P	possibly damaging	Het
4930503B20Rik	C	T	3: 146,356,251 (GRCm39)	R219H	probably benign	Het
Abcc9	T	A	6: 142,634,710 (GRCm39)	I185F	probably benign	Het
Adgrf1	T	C	17: 43,607,581 (GRCm39)	L100P	probably damaging	Het
Akt1	T	C	12: 112,621,576 (GRCm39)	T407A	probably damaging	Het
Alk	C	T	17: 72,910,511 (GRCm39)	R65H	probably damaging	Het
Aplp2	T	C	9: 31,069,086 (GRCm39)	E525G	probably damaging	Het
Arhgef12	G	A	9: 42,883,300 (GRCm39)	R1411C	probably damaging	Het
Arnt	T	A	3: 95,383,460 (GRCm39)	M242K	probably damaging	Het
Atad5	T	G	11: 79,986,473 (GRCm39)	V520G	probably benign	Het
Avpr1a	T	A	10: 122,285,374 (GRCm39)	M222K	possibly damaging	Het
Cbr2	T	A	11: 120,621,614 (GRCm39)	I88L	probably benign	Het
Cc2d2a	T	A	5: 43,845,608 (GRCm39)		probably null	Het
Ccdc51	T	C	9: 108,918,441 (GRCm39)	M10T	probably benign	Het
Cntnap5b	T	A	1: 100,406,099 (GRCm39)	D1136E	possibly damaging	Het
Coil	T	A	11: 88,872,979 (GRCm39)	S447T	probably damaging	Het
Cryba1	T	A	11: 77,609,693 (GRCm39)	Y179F	probably damaging	Het
Dcaf4	T	A	12: 83,582,735 (GRCm39)	F277I	probably damaging	Het
Ddost	G	A	4: 138,036,913 (GRCm39)	V159M	probably damaging	Het
Dnaaf4	A	T	9: 72,868,649 (GRCm39)	R127S	possibly damaging	Het
Dnajb6	T	C	5: 29,990,077 (GRCm39)		probably benign	Het
Dnase2a	A	G	8: 85,635,417 (GRCm39)		probably benign	Het
Dscam	T	C	16: 96,517,279 (GRCm39)	I877V	possibly damaging	Het
Efcc1	A	T	6: 87,726,136 (GRCm39)	T312S	probably benign	Het
Elp1	T	A	4: 56,795,545 (GRCm39)	I143F	probably damaging	Het
Ermard	A	T	17: 15,242,205 (GRCm39)	Q127L	probably damaging	Het
F2	T	C	2: 91,460,503 (GRCm39)	E329G	probably damaging	Het
Foxc2	T	A	8: 121,843,355 (GRCm39)	M1K	probably null	Het
Fuz	T	A	7: 44,548,446 (GRCm39)		probably null	Het
Ggnbp2	G	A	11: 84,731,139 (GRCm39)	T325M	probably damaging	Het
Gm6408	T	A	5: 146,419,870 (GRCm39)	F115I	probably benign	Het
Gp6	C	T	7: 4,376,208 (GRCm39)		probably null	Het
Grin2a	A	G	16: 9,397,037 (GRCm39)	S1017P	possibly damaging	Het
H2-T5	T	C	17: 36,478,899 (GRCm39)	T117A	probably damaging	Het
Hmmr	A	T	11: 40,605,635 (GRCm39)	M318K	probably damaging	Het
Ifi205	T	C	1: 173,855,994 (GRCm39)	E12G	probably benign	Het
Ift74	C	T	4: 94,567,492 (GRCm39)	T395I	probably benign	Het
Irf8	A	T	8: 121,466,714 (GRCm39)	D53V	probably damaging	Het
Itgad	A	G	7: 127,803,813 (GRCm39)	Y69C	probably damaging	Het
Itpr2	C	A	6: 146,096,111 (GRCm39)	R2084L	probably benign	Het
Krt4	C	A	15: 101,831,217 (GRCm39)	S228I	possibly damaging	Het
Lpin3	A	T	2: 160,740,601 (GRCm39)	D382V	probably damaging	Het
Ltbp3	T	C	19: 5,802,171 (GRCm39)		probably null	Het
Map4k3	C	T	17: 80,952,270 (GRCm39)	A179T	probably damaging	Het
Nck1	A	T	9: 100,379,820 (GRCm39)	W144R	probably damaging	Het
Ndufb9	A	T	15: 58,811,131 (GRCm39)	Q139L	possibly damaging	Het
Ngfr	T	G	11: 95,462,738 (GRCm39)	E300A	probably damaging	Het
Nin	T	G	12: 70,061,649 (GRCm39)	T2072P	probably damaging	Het
Nop2	T	G	6: 125,118,307 (GRCm39)	L529R	probably damaging	Het
Nrm	T	A	17: 36,175,503 (GRCm39)	L203Q	probably damaging	Het
Nynrin	T	C	14: 56,109,255 (GRCm39)	F1454S	probably benign	Het
Or10ak7	T	A	4: 118,791,467 (GRCm39)	M191L	probably benign	Het
Or5b101	T	C	19: 13,005,646 (GRCm39)	T16A	possibly damaging	Het
Or8j3c	A	C	2: 86,253,451 (GRCm39)	S190A	probably damaging	Het
Os9	A	G	10: 126,956,905 (GRCm39)	V27A	probably damaging	Het
Osbpl9	T	G	4: 108,930,321 (GRCm39)	T332P	probably damaging	Het
Pcdhb10	A	T	18: 37,547,059 (GRCm39)	M712L	probably benign	Het
Pcx	C	T	19: 4,670,227 (GRCm39)	A935V	probably damaging	Het
Pdzd7	A	G	19: 45,022,106 (GRCm39)	V514A	possibly damaging	Het
Plin4	C	T	17: 56,409,242 (GRCm39)	G1326D	probably damaging	Het
Plxnb1	T	A	9: 108,932,731 (GRCm39)	Y568*	probably null	Het
Pmfbp1	T	A	8: 110,268,372 (GRCm39)	V973D	probably benign	Het
Ppp2r1b	T	C	9: 50,772,925 (GRCm39)	V70A	probably benign	Het
Prkar2b	C	A	12: 32,022,183 (GRCm39)	V201L	probably benign	Het
Rgr	T	G	14: 36,768,925 (GRCm39)	T37P	probably damaging	Het
Ripk3	A	T	14: 56,025,375 (GRCm39)	L63Q	probably damaging	Het
Rpusd2	A	G	2: 118,868,893 (GRCm39)	S439G	probably benign	Het
Serac1	T	A	17: 6,100,335 (GRCm39)	R438S	possibly damaging	Het
Slc19a1	T	A	10: 76,874,300 (GRCm39)	S24T	possibly damaging	Het
Slc6a21	A	C	7: 44,937,667 (GRCm39)	T653P	possibly damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spdef	C	T	17: 27,933,894 (GRCm39)	R309H	probably damaging	Het
Srp68	A	T	11: 116,156,377 (GRCm39)	Y84N	probably damaging	Het
Syne2	A	T	12: 76,144,731 (GRCm39)	Q6299L	probably damaging	Het
Tmem63b	T	A	17: 45,972,839 (GRCm39)	M652L	probably benign	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tnk1	A	G	11: 69,746,007 (GRCm39)	V306A	probably damaging	Het
Tnnc2	T	A	2: 164,619,404 (GRCm39)	I147F	probably damaging	Het
Tnni3k	C	T	3: 154,760,981 (GRCm39)		probably benign	Het
Togaram2	T	A	17: 72,036,243 (GRCm39)	V911D	probably damaging	Het
Tyw3	T	C	3: 154,293,132 (GRCm39)	N181S	probably damaging	Het
Unc79	T	A	12: 103,039,051 (GRCm39)	S682T	probably benign	Het
Vps13d	A	G	4: 144,841,348 (GRCm39)	L2634S	probably benign	Het
Wasl	G	T	6: 24,633,892 (GRCm39)	A124E	probably damaging	Het
Zfp335	T	C	2: 164,749,612 (GRCm39)	T262A	probably damaging	Het
Zfp457	C	G	13: 67,441,211 (GRCm39)	G359R	probably benign	Het
Zfp536	T	A	7: 37,267,874 (GRCm39)	E514V	probably damaging	Het
Zfp872	T	A	9: 22,111,469 (GRCm39)	I316N	probably 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
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
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'- GTCAGGTTTGCACCCTGTCTGT -3'
(R):5'- CCAGTCGGATGATAAAACTGCTCTGT -3'

Sequencing Primer
(F):5'- ggctgaacactttccaacac -3'
(R):5'- CTGCTCTGTATAATGAAAGCAAGCC -3'

Posted On

2013-05-09