Mutagenetix > Incidental Mutation

Incidental Mutation 'R0193:Zfp287'

23233

Institutional Source

Beutler Lab

Gene Symbol

Zfp287

Ensembl Gene

ENSMUSG00000005267

Gene Name

zinc finger protein 287

Synonyms

SKAT-2, B230333C16Rik

MMRRC Submission

038452-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0193 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62591182-62622731 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 62605855 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 351 (S351T)

Ref Sequence

ENSEMBL: ENSMUSP00000141046 (fasta)

Gene Model

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

AlphaFold

Q9EQB9

Predicted Effect

probably benign
Transcript: ENSMUST00000005399
AA Change: S340T

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000005399
Gene: ENSMUSG00000005267
AA Change: S340T

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 benign
Transcript: ENSMUST00000149228
AA Change: S351T

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000114531
Gene: ENSMUSG00000005267
AA Change: S351T

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 benign
Transcript: ENSMUST00000185656
AA Change: S351T

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000141046
Gene: ENSMUSG00000005267
AA Change: S351T

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

0.0898

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 94.7%
20x: 85.3%

Validation Efficiency

95% (186/196)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	T	C	15: 74,444,005 (GRCm39)	S96P	probably damaging	Het
Akr1c20	A	G	13: 4,561,292 (GRCm39)		probably benign	Het
Atp2a3	G	T	11: 72,863,046 (GRCm39)	V99L	possibly damaging	Het
Atp6v0a1	T	A	11: 100,939,308 (GRCm39)	I691N	possibly damaging	Het
Atp8b1	C	T	18: 64,694,707 (GRCm39)	R525Q	probably benign	Het
Aurkb	A	G	11: 68,939,370 (GRCm39)	D151G	probably damaging	Het
Bank1	A	T	3: 135,772,279 (GRCm39)		probably benign	Het
Bcl9l	T	C	9: 44,418,703 (GRCm39)	L847P	probably damaging	Het
Bscl2	T	A	19: 8,824,793 (GRCm39)	M292K	probably benign	Het
Cacna1c	C	T	6: 118,579,363 (GRCm39)		probably benign	Het
Cadps2	T	C	6: 23,599,439 (GRCm39)	K260R	probably benign	Het
Cc2d2a	T	C	5: 43,893,460 (GRCm39)	S1419P	probably damaging	Het
Ccdc180	G	A	4: 45,914,803 (GRCm39)	E145K	probably benign	Het
Ccno	C	T	13: 113,125,418 (GRCm39)		probably benign	Het
Cd300a	A	G	11: 114,784,202 (GRCm39)	D70G	probably benign	Het
Cenpc1	T	C	5: 86,180,262 (GRCm39)	D670G	probably benign	Het
Cenpl	A	G	1: 160,913,558 (GRCm39)	I323V	probably damaging	Het
Cfap44	A	G	16: 44,269,573 (GRCm39)		probably null	Het
Cfap74	C	T	4: 155,510,572 (GRCm39)	R386C	probably benign	Het
Cic	T	A	7: 24,986,565 (GRCm39)	S1299T	probably damaging	Het
Cic	C	A	7: 24,986,566 (GRCm39)	S1299Y	probably damaging	Het
Clcnkb	T	C	4: 141,139,627 (GRCm39)	E125G	possibly damaging	Het
Clstn1	G	A	4: 149,719,253 (GRCm39)	V361M	probably damaging	Het
Coro7	G	A	16: 4,445,368 (GRCm39)		probably benign	Het
Dchs1	C	T	7: 105,414,190 (GRCm39)	R875H	probably benign	Het
Eif3j1	A	C	2: 121,882,508 (GRCm39)	M239L	probably benign	Het
Eif4g3	G	T	4: 137,873,687 (GRCm39)		probably benign	Het
Elapor2	A	T	5: 9,472,359 (GRCm39)	Q352L	probably damaging	Het
Erbb4	T	C	1: 68,083,119 (GRCm39)		probably benign	Het
Erlin2	T	G	8: 27,521,792 (GRCm39)	V164G	possibly damaging	Het
Fbxo43	G	T	15: 36,162,029 (GRCm39)	Q393K	probably benign	Het
Fcgr4	A	T	1: 170,853,329 (GRCm39)	N178I	possibly damaging	Het
Grid2	A	G	6: 64,040,937 (GRCm39)	N293S	possibly damaging	Het
H2-M1	C	T	17: 36,982,224 (GRCm39)	V126I	probably benign	Het
Htr1f	T	A	16: 64,747,112 (GRCm39)	Y60F	probably damaging	Het
Ilf2	A	G	3: 90,388,646 (GRCm39)		probably null	Het
Impg2	A	T	16: 56,085,412 (GRCm39)	K931*	probably null	Het
Ints1	T	C	5: 139,737,485 (GRCm39)	E2176G	probably damaging	Het
Iqsec2	T	C	X: 151,006,399 (GRCm39)	V1319A	probably benign	Het
Iqsec3	G	T	6: 121,387,683 (GRCm39)	D685E	probably damaging	Het
Itgbl1	G	A	14: 124,083,958 (GRCm39)	V279I	probably benign	Het
Kdm4b	C	T	17: 56,700,952 (GRCm39)	A541V	probably benign	Het
Kif14	A	T	1: 136,396,176 (GRCm39)	T161S	probably benign	Het
Krt86	T	C	15: 101,377,244 (GRCm39)		probably benign	Het
Kyat1	C	T	2: 30,077,198 (GRCm39)		probably null	Het
Limch1	T	C	5: 67,184,882 (GRCm39)	W791R	probably damaging	Het
Map3k11	T	A	19: 5,745,874 (GRCm39)	M396K	probably damaging	Het
Mat2a	A	G	6: 72,413,178 (GRCm39)		probably null	Het
Mbnl2	A	G	14: 120,616,649 (GRCm39)	I88V	possibly damaging	Het
Mib2	T	C	4: 155,740,130 (GRCm39)	T708A	probably benign	Het
Mix23	T	C	16: 35,903,184 (GRCm39)	S59P	probably damaging	Het
Mkks	T	C	2: 136,719,526 (GRCm39)		probably null	Het
Mtss1	T	C	15: 58,815,866 (GRCm39)	M565V	probably damaging	Het
Myoc	A	G	1: 162,476,604 (GRCm39)	N436S	probably damaging	Het
Myod1	T	A	7: 46,026,536 (GRCm39)	V147E	probably damaging	Het
Ngef	A	G	1: 87,437,056 (GRCm39)	L144P	probably benign	Het
Ngrn	C	T	7: 79,911,678 (GRCm39)	R92W	probably damaging	Het
Nup153	G	A	13: 46,863,130 (GRCm39)	T349I	probably benign	Het
Or4c15	T	A	2: 88,760,627 (GRCm39)	I11L	probably benign	Het
Or52ad1	G	T	7: 102,995,411 (GRCm39)	S241R	possibly damaging	Het
Pigl	A	G	11: 62,394,574 (GRCm39)	I135M	probably damaging	Het
Pitpnm3	A	G	11: 71,961,318 (GRCm39)		probably benign	Het
Pkhd1	A	T	1: 20,429,141 (GRCm39)	F2420I	probably damaging	Het
Polr2b	C	T	5: 77,467,923 (GRCm39)	T119M	probably damaging	Het
Prr29	A	G	11: 106,267,722 (GRCm39)	Y130C	probably damaging	Het
Rab11fip3	T	C	17: 26,209,973 (GRCm39)	I1048V	probably damaging	Het
Rab12	G	A	17: 66,807,357 (GRCm39)	T124I	probably damaging	Het
Rab44	A	G	17: 29,359,281 (GRCm39)	S490G	probably benign	Het
Rasa3	A	G	8: 13,620,233 (GRCm39)		probably null	Het
Rhbdl3	C	T	11: 80,244,400 (GRCm39)	S369L	possibly damaging	Het
Rimbp2	A	T	5: 128,865,420 (GRCm39)	S643T	probably benign	Het
Rin1	T	G	19: 5,102,680 (GRCm39)	S396R	probably damaging	Het
Rpusd3	C	T	6: 113,396,198 (GRCm39)	G28S	probably damaging	Het
Rtl9	T	A	X: 141,883,274 (GRCm39)	S229T	probably damaging	Het
Rufy1	G	T	11: 50,280,679 (GRCm39)	T701N	probably benign	Het
Scn4a	A	T	11: 106,211,364 (GRCm39)	L1551*	probably null	Het
Sec24b	T	C	3: 129,782,633 (GRCm39)	N1119S	probably null	Het
Serbp1	T	A	6: 67,249,868 (GRCm39)	*75R	probably null	Het
Setx	C	T	2: 29,069,685 (GRCm39)	P2497S	probably benign	Het
Slc26a11	A	T	11: 119,250,140 (GRCm39)	I132F	probably damaging	Het
Slc4a1	A	G	11: 102,243,510 (GRCm39)	V707A	possibly damaging	Het
Slfn1	A	G	11: 83,012,669 (GRCm39)	I262V	probably damaging	Het
Tmem168	T	A	6: 13,583,312 (GRCm39)	D523V	possibly damaging	Het
Traf7	G	T	17: 24,729,525 (GRCm39)	Q469K	probably benign	Het
Trdmt1	C	A	2: 13,549,428 (GRCm39)	V6F	probably damaging	Het
Tsacc	A	T	3: 88,194,395 (GRCm39)		probably benign	Het
Vmn2r5	A	G	3: 64,398,951 (GRCm39)	I589T	possibly damaging	Het
Vmn2r7	T	C	3: 64,598,460 (GRCm39)	D699G	probably damaging	Het
Vmn2r82	T	C	10: 79,217,129 (GRCm39)	V487A	probably damaging	Het
Zbtb47	T	C	9: 121,596,732 (GRCm39)	V696A	probably damaging	Het
Zfp654	T	C	16: 64,606,051 (GRCm39)	H176R	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
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
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'- TGCCGCATTCTTCACACTCATAAGC -3'
(R):5'- CCTATGACGACGACAACGATGACAG -3'

Sequencing Primer
(F):5'- CATAAGCTTTCTCTTTGGCGTG -3'
(R):5'- CCTTCGGGATGATCCACATAGATG -3'

Posted On

2013-04-16