Mutagenetix > Incidental Mutation

Incidental Mutation 'R7658:Zfp287'

591373

Institutional Source

Beutler Lab

Gene Symbol

Zfp287

Ensembl Gene

ENSMUSG00000005267

Gene Name

zinc finger protein 287

Synonyms

SKAT-2, B230333C16Rik

MMRRC Submission

045703-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7658 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

62591182-62622731 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62616089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 201 (N201D)

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: N190D

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000005399
Gene: ENSMUSG00000005267
AA Change: N190D

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: N190D

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000117179
Gene: ENSMUSG00000005267
AA Change: N190D

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: N201D

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000114531
Gene: ENSMUSG00000005267
AA Change: N201D

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: N201D

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

SMART Domains

Protein: ENSMUSP00000121717
Gene: ENSMUSG00000005267
AA Change: N201D

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: N201D

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000141046
Gene: ENSMUSG00000005267
AA Change: N201D

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: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110025L11Rik	G	T	16: 88,860,618 (GRCm39)	S72Y	unknown	Het
Abca8b	T	A	11: 109,826,543 (GRCm39)	K1568N	probably benign	Het
Adcy6	T	A	15: 98,493,948 (GRCm39)	Y865F	probably benign	Het
Adgrf3	A	T	5: 30,402,204 (GRCm39)	V608D	probably benign	Het
Agbl1	G	T	7: 76,416,117 (GRCm39)	A965S	unknown	Het
Agbl3	C	T	6: 34,809,443 (GRCm39)	P690L	probably benign	Het
Akap9	C	G	5: 4,018,745 (GRCm39)	H1109D	probably benign	Het
Amt	A	C	9: 108,174,430 (GRCm39)	H65P	probably damaging	Het
Ankrd11	T	A	8: 123,620,403 (GRCm39)	T1150S	probably benign	Het
Arhgap15	A	C	2: 44,032,280 (GRCm39)	H288P	probably benign	Het
Arhgap39	A	T	15: 76,621,617 (GRCm39)	M328K	probably benign	Het
Arhgef12	T	C	9: 42,903,832 (GRCm39)	K743R	probably damaging	Het
Atg2a	T	G	19: 6,301,293 (GRCm39)	V789G	probably damaging	Het
Ccdc54	T	C	16: 50,410,844 (GRCm39)	T141A	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cdh5	T	C	8: 104,856,033 (GRCm39)		probably null	Het
Cdkl3	T	C	11: 51,918,009 (GRCm39)	V404A	not run	Het
Chrm2	A	T	6: 36,500,184 (GRCm39)	I14F	probably benign	Het
Cnbp	T	C	6: 87,822,258 (GRCm39)	K89E	possibly damaging	Het
Cntn6	T	A	6: 104,627,444 (GRCm39)	D92E	probably benign	Het
Col15a1	T	C	4: 47,245,591 (GRCm39)	F114S	possibly damaging	Het
Csrnp1	A	G	9: 119,801,469 (GRCm39)	F530S	probably benign	Het
Dcun1d3	C	T	7: 119,456,891 (GRCm39)	V274M	probably damaging	Het
Dph2	T	A	4: 117,747,478 (GRCm39)	H302L	possibly damaging	Het
Fam162a	A	T	16: 35,866,770 (GRCm39)	Y118*	probably null	Het
Fam186a	A	G	15: 99,837,725 (GRCm39)	Y2840H	unknown	Het
Fto	A	G	8: 92,392,950 (GRCm39)	K466E	probably benign	Het
Gal	T	A	19: 3,463,309 (GRCm39)	Y41F	probably damaging	Het
Gigyf2	A	T	1: 87,346,860 (GRCm39)	L620F	unknown	Het
Git2	C	T	5: 114,904,550 (GRCm39)	R123H	probably damaging	Het
Glud1	A	T	14: 34,033,114 (GRCm39)	E87V	probably benign	Het
Gm21190	T	G	5: 15,732,923 (GRCm39)	E94A	possibly damaging	Het
Gm5592	T	C	7: 40,938,134 (GRCm39)	V472A	probably benign	Het
Gpc5	T	A	14: 115,665,620 (GRCm39)	N481K	possibly damaging	Het
Gpn2	A	G	4: 133,318,687 (GRCm39)	E304G	probably benign	Het
Gsdmc2	T	C	15: 63,696,903 (GRCm39)	T423A	probably damaging	Het
Gucy2e	G	A	11: 69,117,055 (GRCm39)	Q789*	probably null	Het
Gxylt2	T	A	6: 100,760,104 (GRCm39)	V213E	probably damaging	Het
Ighv1-75	G	A	12: 115,797,731 (GRCm39)	L64F	possibly damaging	Het
Il17re	T	C	6: 113,435,943 (GRCm39)	C30R	probably benign	Het
Il7	G	T	3: 7,669,142 (GRCm39)	D31E	probably benign	Het
Ints4	T	C	7: 97,178,460 (GRCm39)	Y687H	possibly damaging	Het
Kdelr1	T	G	7: 45,532,401 (GRCm39)	V202G	probably benign	Het
Khnyn	C	A	14: 56,124,596 (GRCm39)	Y283*	probably null	Het
Klf11	T	C	12: 24,703,670 (GRCm39)	V52A	probably damaging	Het
Klhl7	A	G	5: 24,346,284 (GRCm39)	N310S	probably benign	Het
Krt27	A	T	11: 99,240,312 (GRCm39)	L202Q	possibly damaging	Het
Lce1d	A	G	3: 92,593,354 (GRCm39)	C20R	unknown	Het
Lim2	A	T	7: 43,083,054 (GRCm39)	I80F	possibly damaging	Het
Lrrk2	T	A	15: 91,584,561 (GRCm39)	F326Y	possibly damaging	Het
Lyst	A	T	13: 13,905,061 (GRCm39)	Y3246F	possibly damaging	Het
Mafb	T	A	2: 160,208,355 (GRCm39)	H81L	possibly damaging	Het
Mfsd5	G	A	15: 102,189,312 (GRCm39)	R228H	probably benign	Het
Mmp1b	A	T	9: 7,386,675 (GRCm39)	F150I	possibly damaging	Het
Mthfd1	T	A	12: 76,317,209 (GRCm39)	L20Q	probably damaging	Het
Mxra8	A	G	4: 155,927,420 (GRCm39)	T402A	probably benign	Het
Ndc80	A	T	17: 71,815,658 (GRCm39)	L376M	probably damaging	Het
Nsd1	A	T	13: 55,425,452 (GRCm39)	R1536S	probably damaging	Het
Nup210l	C	A	3: 90,119,300 (GRCm39)	H1874Q	probably benign	Het
Nyap1	T	C	5: 137,731,236 (GRCm39)	H776R	probably benign	Het
Patj	C	A	4: 98,576,416 (GRCm39)	H1773Q	probably damaging	Het
Pax8	T	A	2: 24,326,523 (GRCm39)	T280S	probably benign	Het
Pcdhb19	A	G	18: 37,632,034 (GRCm39)	T610A	probably damaging	Het
Pde2a	A	G	7: 101,160,788 (GRCm39)	D919G	possibly damaging	Het
Pdk2	T	A	11: 94,919,791 (GRCm39)	Y240F	probably damaging	Het
Peg3	A	T	7: 6,712,609 (GRCm39)	I871N	probably damaging	Het
Pex1	A	T	5: 3,646,244 (GRCm39)		probably benign	Het
Pgm2l1	C	T	7: 99,899,535 (GRCm39)	R50W	probably damaging	Het
Phkg1	T	A	5: 129,894,764 (GRCm39)	K262N	probably damaging	Het
Pik3r4	A	G	9: 105,521,710 (GRCm39)	E92G	probably damaging	Het
Prmt6	A	T	3: 110,157,701 (GRCm39)	V196E	possibly damaging	Het
Ptprn2	T	G	12: 116,685,739 (GRCm39)	M66R	probably benign	Het
Rai14	C	T	15: 10,593,189 (GRCm39)	G152R	probably damaging	Het
Recql5	A	T	11: 115,814,102 (GRCm39)	S348T	probably damaging	Het
Rfk	T	G	19: 17,376,046 (GRCm39)		probably null	Het
Ro60	T	C	1: 143,646,611 (GRCm39)	T45A	probably damaging	Het
Selenbp1	A	T	3: 94,851,413 (GRCm39)	M389L	probably benign	Het
Sipa1l2	G	A	8: 126,219,029 (GRCm39)	R103C	probably benign	Het
Slc10a6	T	A	5: 103,777,056 (GRCm39)	S15C	probably damaging	Het
Slc12a2	G	T	18: 58,065,596 (GRCm39)	V944L	probably benign	Het
Slc16a11	T	A	11: 70,106,143 (GRCm39)	L127Q	possibly damaging	Het
Spef1l	T	C	7: 139,556,531 (GRCm39)	N152S	probably benign	Het
St6gal1	A	G	16: 23,174,978 (GRCm39)	Y272C	probably damaging	Het
Stab2	C	A	10: 86,816,999 (GRCm39)	V133F	probably benign	Het
Stradb	G	A	1: 59,031,885 (GRCm39)	V266I	probably damaging	Het
Tmem150b	A	G	7: 4,723,758 (GRCm39)	W140R	probably benign	Het
Tnnt3	A	T	7: 142,065,833 (GRCm39)	K157*	probably null	Het
Ttn	T	G	2: 76,554,113 (GRCm39)	K30863N	probably damaging	Het
Vldlr	G	A	19: 27,220,536 (GRCm39)	R592H	probably benign	Het
Vmn1r12	A	T	6: 57,135,883 (GRCm39)		probably benign	Het
Vmn2r63	A	C	7: 42,574,693 (GRCm39)	S519R	probably damaging	Het
Zbtb22	G	C	17: 34,137,471 (GRCm39)	E539Q	probably damaging	Het
Zbtb44	G	A	9: 30,965,375 (GRCm39)	A262T	probably benign	Het
Zfp280d	A	T	9: 72,231,354 (GRCm39)	N455I	probably damaging	Het
Zfp988	T	C	4: 147,416,751 (GRCm39)	L395P	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
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
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'- TTTGGGGAGCAGTAGACATGAC -3'
(R):5'- CTGTGGAGTCAGTCATAGACCAG -3'

Sequencing Primer
(F):5'- GGAGCAGTAGACATGACCATTTTTG -3'
(R):5'- GTTAAGACAGGTCTCACCATGTAGC -3'

Posted On

2019-11-12