Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02451:Zfp827'

293651

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp827

Ensembl Gene

ENSMUSG00000071064

Gene Name

zinc finger protein 827

Synonyms

2810449M09Rik, D630040G17Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.902) question?

Stock #

IGL02451

Quality Score

Status

Chromosome

Chromosomal Location

79028437-79193766 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79060972 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 256 (S256P)

Ref Sequence

ENSEMBL: ENSMUSP00000113199 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087927] [ENSMUST00000098614] [ENSMUST00000119254]

Predicted Effect

probably damaging
Transcript: ENSMUST00000087927
AA Change: S256P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000085238
Gene: ENSMUSG00000071064
AA Change: S256P

Domain	Start	End	E-Value	Type
low complexity region	102	128	N/A	INTRINSIC
low complexity region	226	256	N/A	INTRINSIC
low complexity region	271	298	N/A	INTRINSIC
low complexity region	306	342	N/A	INTRINSIC
low complexity region	343	348	N/A	INTRINSIC
ZnF_C2H2	371	393	6.78e-3	SMART
ZnF_C2H2	399	422	5.59e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000098614
AA Change: S256P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000096214
Gene: ENSMUSG00000071064
AA Change: S256P

Domain	Start	End	E-Value	Type
low complexity region	102	128	N/A	INTRINSIC
low complexity region	226	256	N/A	INTRINSIC
low complexity region	271	298	N/A	INTRINSIC
low complexity region	306	342	N/A	INTRINSIC
low complexity region	343	348	N/A	INTRINSIC
ZnF_C2H2	371	393	6.78e-3	SMART
ZnF_C2H2	399	421	2.99e-4	SMART
ZnF_C2H2	430	452	5.42e-2	SMART
internal_repeat_2	561	585	3.31e-7	PROSPERO
low complexity region	613	627	N/A	INTRINSIC
internal_repeat_2	719	743	3.31e-7	PROSPERO
ZnF_C2H2	814	836	2.4e-3	SMART
ZnF_C2H2	842	864	4.72e-2	SMART
ZnF_C2H2	894	916	1.64e-1	SMART
ZnF_C2H2	926	949	7.89e0	SMART
low complexity region	956	974	N/A	INTRINSIC
ZnF_C2H2	1016	1038	1.26e-2	SMART
ZnF_C2H2	1044	1066	3.07e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000119254
AA Change: S256P

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

SMART Domains

Protein: ENSMUSP00000113199
Gene: ENSMUSG00000071064
AA Change: S256P

Domain	Start	End	E-Value	Type
low complexity region	102	128	N/A	INTRINSIC
low complexity region	226	256	N/A	INTRINSIC
low complexity region	271	298	N/A	INTRINSIC
low complexity region	306	342	N/A	INTRINSIC
low complexity region	343	348	N/A	INTRINSIC
ZnF_C2H2	371	393	6.78e-3	SMART
ZnF_C2H2	399	421	2.99e-4	SMART
ZnF_C2H2	430	452	5.42e-2	SMART
internal_repeat_2	561	585	3.25e-7	PROSPERO
low complexity region	613	627	N/A	INTRINSIC
internal_repeat_2	719	743	3.25e-7	PROSPERO
ZnF_C2H2	814	836	2.4e-3	SMART
ZnF_C2H2	842	864	4.72e-2	SMART
ZnF_C2H2	894	916	1.64e-1	SMART
ZnF_C2H2	926	949	7.89e0	SMART
low complexity region	956	974	N/A	INTRINSIC
ZnF_C2H2	1016	1038	1.26e-2	SMART
ZnF_C2H2	1044	1066	3.07e-1	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	G	5: 138,563,547	T126P	probably damaging	Het
Asic2	T	C	11: 80,891,737		probably benign	Het
B430305J03Rik	A	G	3: 61,364,141		probably benign	Het
Bbs7	A	G	3: 36,610,592	F47L	possibly damaging	Het
BC017158	A	G	7: 128,276,410	L257P	probably damaging	Het
Bcl2l14	G	T	6: 134,423,841	G75V	probably benign	Het
Btnl4	T	C	17: 34,475,927	H4R	probably benign	Het
Champ1	C	A	8: 13,878,739	P299Q	probably damaging	Het
Cldnd2	A	G	7: 43,441,658	K5E	probably benign	Het
Ctr9	T	A	7: 111,043,424	L401*	probably null	Het
Cyp2c29	G	A	19: 39,290,847	G96D	possibly damaging	Het
Enpp4	A	T	17: 44,101,424	L298H	probably damaging	Het
Git1	T	C	11: 77,500,687	C222R	possibly damaging	Het
Gpam	T	C	19: 55,088,203	T189A	probably damaging	Het
Hgfac	T	G	5: 35,043,814		probably null	Het
Hivep3	T	A	4: 120,133,965	S2221T	probably damaging	Het
Ifi47	T	C	11: 49,095,777	Y124H	probably damaging	Het
Il1a	T	C	2: 129,306,655	E45G	probably damaging	Het
Itga11	T	A	9: 62,735,353	I186N	probably damaging	Het
Krt16	A	T	11: 100,246,336		probably benign	Het
Mapk13	A	G	17: 28,776,413	T203A	probably damaging	Het
Mrpl37	T	A	4: 107,066,642	I52F	probably damaging	Het
Nr1i2	A	G	16: 38,249,292	F417L	probably benign	Het
Olfr1129	T	A	2: 87,575,232	S49R	probably benign	Het
Olfr811	G	A	10: 129,801,833	Q231*	probably null	Het
Osbpl1a	T	C	18: 12,914,493		probably benign	Het
Parg	C	T	14: 32,242,229	T112M	probably damaging	Het
Pifo	T	A	3: 106,014,504	E34D	probably benign	Het
Pou6f1	T	C	15: 100,579,940	T166A	possibly damaging	Het
Prtg	A	G	9: 72,856,999	I585V	possibly damaging	Het
Ptpru	T	G	4: 131,776,775		probably benign	Het
Rab6a	T	C	7: 100,636,763		probably null	Het
Rnf207	C	T	4: 152,312,412	R425H	probably benign	Het
Skiv2l2	C	T	13: 112,891,347	V660M	probably damaging	Het
Slc27a2	A	G	2: 126,578,992	M468V	probably benign	Het
Slc30a1	A	G	1: 191,907,329	H108R	possibly damaging	Het
Sned1	A	G	1: 93,236,208		probably benign	Het
Sptbn4	A	T	7: 27,365,589	F2095Y	probably null	Het
Sspo	A	T	6: 48,460,303		probably benign	Het
Tbx19	A	G	1: 165,140,171	S336P	probably benign	Het
Tmem101	T	A	11: 102,153,293	D256V	probably damaging	Het
Trbv20	T	G	6: 41,188,276	L2V	unknown	Het
Trpc7	A	G	13: 56,822,461	S382P	probably damaging	Het
Uhmk1	T	C	1: 170,212,526	T91A	possibly damaging	Het
Vmn2r10	T	A	5: 108,995,922	R721*	probably null	Het
Vmn2r94	T	A	17: 18,258,191	Y98F	possibly damaging	Het
Zcchc11	C	A	4: 108,529,276	Y1114*	probably null	Het
Zfp532	A	G	18: 65,623,601	R202G	probably damaging	Het
Zzef1	T	C	11: 72,901,388	I2266T	probably damaging	Het

Other mutations in Zfp827

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01448:Zfp827	APN	8	79060733	missense	possibly damaging	0.82
IGL01545:Zfp827	APN	8	79070434	missense	probably damaging	1.00
IGL01552:Zfp827	APN	8	79076191	missense	probably damaging	1.00
IGL02261:Zfp827	APN	8	79180079	missense	probably damaging	0.97
IGL03130:Zfp827	APN	8	79060957	missense	probably damaging	1.00
IGL03411:Zfp827	APN	8	79076487	missense	probably damaging	0.99
E0354:Zfp827	UTSW	8	79136577	missense	probably damaging	1.00
R0502:Zfp827	UTSW	8	79179077	splice site	probably null
R0547:Zfp827	UTSW	8	79060310	missense	probably damaging	1.00
R0926:Zfp827	UTSW	8	79118192	missense	probably benign	0.00
R0975:Zfp827	UTSW	8	79061185	missense	probably benign	0.00
R1305:Zfp827	UTSW	8	79060894	missense	possibly damaging	0.95
R1462:Zfp827	UTSW	8	79076479	missense	probably benign
R1462:Zfp827	UTSW	8	79076479	missense	probably benign
R1638:Zfp827	UTSW	8	79076346	missense	possibly damaging	0.94
R1714:Zfp827	UTSW	8	79060573	missense	probably damaging	1.00
R2044:Zfp827	UTSW	8	79076236	missense	probably benign
R2132:Zfp827	UTSW	8	79185721	missense	possibly damaging	0.53
R3844:Zfp827	UTSW	8	79136619	missense	probably damaging	0.99
R4329:Zfp827	UTSW	8	79189834	utr 3 prime	probably benign
R4629:Zfp827	UTSW	8	79060382	missense	probably damaging	0.99
R4873:Zfp827	UTSW	8	79060774	missense	probably damaging	1.00
R4875:Zfp827	UTSW	8	79060774	missense	probably damaging	1.00
R4936:Zfp827	UTSW	8	79061183	missense	probably benign
R4965:Zfp827	UTSW	8	79061281	missense	probably benign
R5103:Zfp827	UTSW	8	79070403	missense	probably damaging	1.00
R5366:Zfp827	UTSW	8	79185704	missense	possibly damaging	0.94
R5794:Zfp827	UTSW	8	79070442	missense	probably damaging	1.00
R5825:Zfp827	UTSW	8	79179016	missense	probably damaging	1.00
R6118:Zfp827	UTSW	8	79076438	missense	possibly damaging	0.75
R6236:Zfp827	UTSW	8	79070476	missense	probably damaging	1.00
R6263:Zfp827	UTSW	8	79179073	missense	probably damaging	1.00
R6306:Zfp827	UTSW	8	79060695	missense	probably damaging	1.00
R6490:Zfp827	UTSW	8	79189977	utr 3 prime	probably benign
R6497:Zfp827	UTSW	8	79180128	missense	probably damaging	1.00
R7250:Zfp827	UTSW	8	79190092	missense
R7290:Zfp827	UTSW	8	79189813	missense	possibly damaging	0.86
R7443:Zfp827	UTSW	8	79190418	missense
R7708:Zfp827	UTSW	8	79175962	missense	probably damaging	1.00
R7754:Zfp827	UTSW	8	79190329	missense
R7836:Zfp827	UTSW	8	79186350	missense	probably damaging	1.00
R7995:Zfp827	UTSW	8	79118258	missense	possibly damaging	0.86
R8162:Zfp827	UTSW	8	79060577	nonsense	probably null

Posted On

2015-04-16