Mutagenetix > Incidental Mutations

Incidental Mutation 'R4479:Zfp286'

331406

Institutional Source

Beutler Lab

Gene Symbol

Zfp286

Ensembl Gene

ENSMUSG00000047342

Gene Name

zinc finger protein 286

Synonyms

MMRRC Submission

041736-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R4479 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62752577-62789462 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 62780204 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 348 (G348R)

Ref Sequence

ENSEMBL: ENSMUSP00000055517 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054654] [ENSMUST00000108705] [ENSMUST00000207597]

Predicted Effect

probably damaging
Transcript: ENSMUST00000054654
AA Change: G348R

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

SMART Domains

Protein: ENSMUSP00000055517
Gene: ENSMUSG00000047342
AA Change: G348R

Domain	Start	End	E-Value	Type
KRAB	50	114	1.2e-17	SMART
ZnF_C2H2	241	263	2.75e-3	SMART
ZnF_C2H2	269	291	2.84e-5	SMART
ZnF_C2H2	296	318	1.03e-2	SMART
ZnF_C2H2	324	346	5.14e-3	SMART
ZnF_C2H2	352	374	4.24e-4	SMART
ZnF_C2H2	380	402	4.79e-3	SMART
ZnF_C2H2	408	430	1.06e-4	SMART
ZnF_C2H2	436	458	1.06e-4	SMART
ZnF_C2H2	464	486	3.95e-4	SMART
ZnF_C2H2	492	514	1.15e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082758

Predicted Effect

probably benign
Transcript: ENSMUST00000108705

SMART Domains

Protein: ENSMUSP00000104345
Gene: ENSMUSG00000047342

Domain	Start	End	E-Value	Type
KRAB	50	114	1.2e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139798

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140072

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145474

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149230

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152602

Predicted Effect

probably benign
Transcript: ENSMUST00000207597

Meta Mutation Damage Score

0.5875

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

95% (36/38)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	C	7: 46,005,239	T553A	possibly damaging	Het
Adamts20	C	T	15: 94,403,445	R66H	probably damaging	Het
Anks1b	A	G	10: 90,049,892	E150G	probably damaging	Het
Chp2	A	G	7: 122,220,918	D97G	probably benign	Het
Cnbd2	T	C	2: 156,333,653		probably benign	Het
D130040H23Rik	C	A	8: 69,302,503	H187N	possibly damaging	Het
Dusp15	A	G	2: 152,944,182	L135P	probably damaging	Het
Eif4g1	G	T	16: 20,678,843		probably benign	Het
Erlin2	G	T	8: 27,025,099	V10L	probably benign	Het
F830104G03Rik	A	G	3: 56,890,213	S98P	unknown	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Gm3159	T	C	14: 4,398,584	Y92H	probably damaging	Het
Ighv1-22	G	T	12: 114,746,663	A15E	possibly damaging	Het
Ints4	T	C	7: 97,484,971	S37P	probably damaging	Het
Irs1	G	A	1: 82,287,294	T1067I	probably damaging	Het
Lrrc28	C	T	7: 67,531,614		probably null	Het
Olfr1243	A	G	2: 89,528,170	I80T	possibly damaging	Het
Olfr1420	A	G	19: 11,896,558	Y179C	probably damaging	Het
Olfr206	G	A	16: 59,344,867	T278I	probably damaging	Het
Psg18	C	T	7: 18,350,862	S103N	probably benign	Het
Psma3	T	C	12: 70,984,781		probably benign	Het
Slc7a11	T	C	3: 50,417,963		probably benign	Het
Tas2r115	T	C	6: 132,737,532	D152G	probably damaging	Het
Tti1	A	T	2: 158,008,395	L308Q	possibly damaging	Het
Unc93b1	G	A	19: 3,935,236	A15T	probably benign	Het
Usp43	G	A	11: 67,856,407	R820C	possibly damaging	Het
Vmn2r68	TCC	TC	7: 85,221,550		probably null	Het
Vps8	A	T	16: 21,545,236		probably benign	Het
Wdr73	T	C	7: 80,893,221	E213G	probably benign	Het
Zkscan5	T	C	5: 145,211,174		probably benign	Het

Other mutations in Zfp286

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02659:Zfp286	APN	11	62783737	missense	possibly damaging	0.54
IGL02745:Zfp286	APN	11	62780874	missense	probably damaging	1.00
IGL02826:Zfp286	APN	11	62787960	missense	probably damaging	0.99
R0233:Zfp286	UTSW	11	62780393	missense	possibly damaging	0.75
R0233:Zfp286	UTSW	11	62780393	missense	possibly damaging	0.75
R0318:Zfp286	UTSW	11	62784962	missense	probably damaging	1.00
R1954:Zfp286	UTSW	11	62783708	missense	possibly damaging	0.46
R1994:Zfp286	UTSW	11	62779820	missense	probably damaging	1.00
R2186:Zfp286	UTSW	11	62780461	missense	probably damaging	0.97
R4258:Zfp286	UTSW	11	62781070	missense	probably benign	0.07
R4327:Zfp286	UTSW	11	62780018	missense	probably damaging	1.00
R4453:Zfp286	UTSW	11	62780204	missense	probably damaging	1.00
R4647:Zfp286	UTSW	11	62783733	nonsense	probably null
R4667:Zfp286	UTSW	11	62780602	missense	probably benign	0.00
R4883:Zfp286	UTSW	11	62780629	missense	probably benign	0.01
R4978:Zfp286	UTSW	11	62788928	critical splice donor site	probably null
R5120:Zfp286	UTSW	11	62780725	missense	probably benign	0.40
R5533:Zfp286	UTSW	11	62780970	intron	probably benign
R7236:Zfp286	UTSW	11	62783670	critical splice donor site	probably null
R7464:Zfp286	UTSW	11	62780801	missense	probably benign	0.00
R8065:Zfp286	UTSW	11	62753519	missense	unknown
R8067:Zfp286	UTSW	11	62753519	missense	unknown
R8716:Zfp286	UTSW	11	62780991	missense	unknown
Z1186:Zfp286	UTSW	11	62784956	missense	probably damaging	1.00
Z1186:Zfp286	UTSW	11	62787969	missense	probably benign
Z1187:Zfp286	UTSW	11	62784956	missense	probably damaging	1.00
Z1187:Zfp286	UTSW	11	62787969	missense	probably benign
Z1188:Zfp286	UTSW	11	62784956	missense	probably damaging	1.00
Z1188:Zfp286	UTSW	11	62787969	missense	probably benign
Z1189:Zfp286	UTSW	11	62784956	missense	probably damaging	1.00
Z1189:Zfp286	UTSW	11	62787969	missense	probably benign
Z1190:Zfp286	UTSW	11	62784956	missense	probably damaging	1.00
Z1190:Zfp286	UTSW	11	62787969	missense	probably benign
Z1191:Zfp286	UTSW	11	62784956	missense	probably damaging	1.00
Z1191:Zfp286	UTSW	11	62787969	missense	probably benign
Z1192:Zfp286	UTSW	11	62784956	missense	probably damaging	1.00
Z1192:Zfp286	UTSW	11	62787969	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGGAGGGGCTGCTCTTGAA -3'
(R):5'- CGCTTGGGAAAAGACTGAAGC -3'

Sequencing Primer
(F):5'- TGCAAAATTTGAGCTCCGGC -3'
(R):5'- GTTCGGTACTTATCCGACACCAGAG -3'

Posted On

2015-07-21