Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02826:Zfp286'

361220

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp286

Ensembl Gene

ENSMUSG00000047342

Gene Name

zinc finger protein 286

Synonyms

Accession Numbers

Is this an essential gene?

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

Stock #

IGL02826

Quality Score

Status

Chromosome

Chromosomal Location

62752577-62789462 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62787960 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 47 (Q47R)

Ref Sequence

ENSEMBL: ENSMUSP00000147022 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054654
AA Change: Q47R

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000055517
Gene: ENSMUSG00000047342
AA Change: Q47R

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

possibly damaging
Transcript: ENSMUST00000108705
AA Change: Q47R

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000104345
Gene: ENSMUSG00000047342
AA Change: Q47R

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: ENSMUST00000149215

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149230

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152602

Predicted Effect

probably damaging
Transcript: ENSMUST00000207597
AA Change: Q47R

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004E09Rik	A	C	16: 90,926,062	D261E	probably benign	Het
1810041L15Rik	A	G	15: 84,420,129		probably benign	Het
4930404N11Rik	A	G	10: 81,364,736		probably benign	Het
A3galt2	T	C	4: 128,761,509		probably benign	Het
Alk	C	T	17: 71,869,536	G1591D	probably damaging	Het
Angptl2	T	C	2: 33,228,315	S34P	probably benign	Het
Atp2a2	A	G	5: 122,489,291	V137A	probably benign	Het
Atp8b5	A	G	4: 43,366,770	M845V	probably damaging	Het
Camk1d	A	G	2: 5,565,760	V30A	possibly damaging	Het
Ceacam19	G	A	7: 19,882,610	T193I	probably benign	Het
Chst15	T	A	7: 132,266,746	D315V	probably damaging	Het
Cux1	G	T	5: 136,308,003	P885Q	probably damaging	Het
Cyth1	C	T	11: 118,185,481	E88K	possibly damaging	Het
Dido1	A	G	2: 180,683,958	V479A	probably benign	Het
Dlc1	G	T	8: 36,570,275		probably benign	Het
H2-Ab1	G	A	17: 34,264,911	R82Q	probably damaging	Het
Hps6	T	A	19: 46,006,041	*806K	probably null	Het
Ilf3	T	C	9: 21,398,044	S486P	probably benign	Het
Kdm1b	C	A	13: 47,080,467	T759K	probably damaging	Het
Kirrel	C	A	3: 87,088,485	V381F	probably damaging	Het
Kmt2b	A	T	7: 30,577,144	V1701E	probably damaging	Het
Lrmda	T	C	14: 22,828,737	Y100H	probably damaging	Het
Mastl	T	C	2: 23,145,409	I169V	probably damaging	Het
Mroh2b	A	G	15: 4,962,148	E1576G	probably damaging	Het
Nek3	A	T	8: 22,160,368		probably null	Het
Nipal3	G	T	4: 135,468,550	Y247*	probably null	Het
Nt5e	A	C	9: 88,355,705	K229N	probably damaging	Het
Olfr237-ps1	A	G	6: 43,153,577	I91V	possibly damaging	Het
Olfr974	G	T	9: 39,942,958	G233C	probably damaging	Het
Opa1	A	G	16: 29,610,887	M290V	probably null	Het
Parp2	T	A	14: 50,815,415	I155K	probably benign	Het
Pde4dip	G	T	3: 97,767,087	A171E	probably damaging	Het
Prom2	C	T	2: 127,531,116	E678K	probably benign	Het
Rab12	A	G	17: 66,498,116		probably benign	Het
Rgs8	A	T	1: 153,670,799	T13S	probably damaging	Het
Setd3	A	G	12: 108,112,124		probably benign	Het
Slx4ip	G	A	2: 137,004,973	V53I	probably damaging	Het
Stil	A	G	4: 115,024,098	D613G	probably benign	Het
Tjp3	T	A	10: 81,273,689	S858C	probably damaging	Het
Tmem215	A	G	4: 40,474,632	*236W	probably null	Het
Ttbk1	A	G	17: 46,470,660	V389A	probably benign	Het
Wdfy4	A	G	14: 32,971,750	F2706S	possibly damaging	Het
Xpo4	C	A	14: 57,629,420	V222L	possibly damaging	Het
Zfc3h1	A	G	10: 115,400,904	S428G	probably benign	Het
Zfp318	A	G	17: 46,398,754	K468E	probably damaging	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
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
R4479: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

Posted On

2015-12-18