Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02451:Zfp532'

293664

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp532

Ensembl Gene

ENSMUSG00000042439

Gene Name

zinc finger protein 532

Synonyms

C530030I18Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.367) question?

Stock #

IGL02451

Quality Score

Status

Chromosome

Chromosomal Location

65580230-65689443 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65623601 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 202 (R202G)

Ref Sequence

ENSEMBL: ENSMUSP00000138604 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049016] [ENSMUST00000169679] [ENSMUST00000182140] [ENSMUST00000182319] [ENSMUST00000182478] [ENSMUST00000182655] [ENSMUST00000182684] [ENSMUST00000182852] [ENSMUST00000182973] [ENSMUST00000182979] [ENSMUST00000183236] [ENSMUST00000183326] [ENSMUST00000183319]

Predicted Effect

probably benign
Transcript: ENSMUST00000049016
AA Change: R202G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000036582
Gene: ENSMUSG00000042439
AA Change: R202G

Domain	Start	End	E-Value	Type
low complexity region	253	287	N/A	INTRINSIC
low complexity region	336	353	N/A	INTRINSIC
low complexity region	395	417	N/A	INTRINSIC
low complexity region	480	502	N/A	INTRINSIC
low complexity region	547	559	N/A	INTRINSIC
low complexity region	566	580	N/A	INTRINSIC
ZnF_C2H2	615	635	7.18e1	SMART
ZnF_C2H2	643	667	1.23e1	SMART
low complexity region	726	738	N/A	INTRINSIC
ZnF_C2H2	751	772	4.57e0	SMART
ZnF_C2H2	784	807	1.25e-1	SMART
ZnF_C2H2	814	840	1.43e-1	SMART
low complexity region	860	872	N/A	INTRINSIC
ZnF_C2H2	909	931	1.31e0	SMART
ZnF_C2H2	938	961	9.44e-2	SMART
ZnF_C2H2	999	1021	6.88e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169679
AA Change: R202G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000129390
Gene: ENSMUSG00000042439
AA Change: R202G

Domain	Start	End	E-Value	Type
low complexity region	253	287	N/A	INTRINSIC
low complexity region	336	353	N/A	INTRINSIC
low complexity region	395	417	N/A	INTRINSIC
low complexity region	480	502	N/A	INTRINSIC
low complexity region	547	559	N/A	INTRINSIC
low complexity region	566	580	N/A	INTRINSIC
ZnF_C2H2	615	635	7.18e1	SMART
ZnF_C2H2	643	667	1.23e1	SMART
low complexity region	726	738	N/A	INTRINSIC
ZnF_C2H2	751	772	4.57e0	SMART
ZnF_C2H2	784	807	1.25e-1	SMART
ZnF_C2H2	814	840	1.43e-1	SMART
low complexity region	860	872	N/A	INTRINSIC
ZnF_C2H2	909	931	1.31e0	SMART
ZnF_C2H2	938	961	9.44e-2	SMART
ZnF_C2H2	999	1021	6.88e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182140

Predicted Effect

probably benign
Transcript: ENSMUST00000182319

Predicted Effect

probably benign
Transcript: ENSMUST00000182478
AA Change: R202G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000138315
Gene: ENSMUSG00000042439
AA Change: R202G

Domain	Start	End	E-Value	Type
low complexity region	253	287	N/A	INTRINSIC
low complexity region	336	353	N/A	INTRINSIC
low complexity region	395	417	N/A	INTRINSIC
low complexity region	480	502	N/A	INTRINSIC
low complexity region	547	559	N/A	INTRINSIC
low complexity region	566	580	N/A	INTRINSIC
ZnF_C2H2	615	635	7.18e1	SMART
ZnF_C2H2	643	667	1.23e1	SMART
low complexity region	726	738	N/A	INTRINSIC
ZnF_C2H2	751	772	4.57e0	SMART
ZnF_C2H2	780	802	4.34e0	SMART
ZnF_C2H2	808	832	1.55e1	SMART
ZnF_C2H2	839	862	8.94e-3	SMART
ZnF_C2H2	867	890	3.78e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182655

Predicted Effect

probably damaging
Transcript: ENSMUST00000182684
AA Change: R202G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000182852
AA Change: R202G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000138663
Gene: ENSMUSG00000042439
AA Change: R202G

Domain	Start	End	E-Value	Type
low complexity region	253	287	N/A	INTRINSIC
low complexity region	336	353	N/A	INTRINSIC
low complexity region	395	417	N/A	INTRINSIC
low complexity region	480	502	N/A	INTRINSIC
low complexity region	547	559	N/A	INTRINSIC
low complexity region	566	580	N/A	INTRINSIC
ZnF_C2H2	615	635	7.18e1	SMART
ZnF_C2H2	643	667	1.23e1	SMART
low complexity region	726	738	N/A	INTRINSIC
ZnF_C2H2	751	772	4.57e0	SMART
ZnF_C2H2	780	802	4.34e0	SMART
ZnF_C2H2	808	832	1.55e1	SMART
ZnF_C2H2	839	862	8.94e-3	SMART
ZnF_C2H2	867	890	3.78e-1	SMART
ZnF_C2H2	902	924	7.15e-2	SMART
ZnF_C2H2	933	956	1.43e-1	SMART
ZnF_C2H2	1022	1045	4.72e-2	SMART
ZnF_C2H2	1052	1075	1.25e-1	SMART
ZnF_C2H2	1082	1108	1.43e-1	SMART
low complexity region	1128	1140	N/A	INTRINSIC
ZnF_C2H2	1177	1199	1.31e0	SMART
ZnF_C2H2	1206	1229	9.44e-2	SMART
ZnF_C2H2	1267	1289	6.88e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182973

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182979
AA Change: R202G

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000138225
Gene: ENSMUSG00000042439
AA Change: R202G

Domain	Start	End	E-Value	Type
low complexity region	253	287	N/A	INTRINSIC
low complexity region	336	353	N/A	INTRINSIC
low complexity region	395	417	N/A	INTRINSIC
low complexity region	480	502	N/A	INTRINSIC
low complexity region	547	559	N/A	INTRINSIC
low complexity region	566	580	N/A	INTRINSIC
ZnF_C2H2	615	635	7.18e1	SMART
ZnF_C2H2	643	667	1.23e1	SMART
low complexity region	726	738	N/A	INTRINSIC
ZnF_C2H2	751	772	4.57e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183157

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183184

Predicted Effect

probably benign
Transcript: ENSMUST00000183236

Predicted Effect

probably benign
Transcript: ENSMUST00000183326

Predicted Effect

probably benign
Transcript: ENSMUST00000183319

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
Zfp827	T	C	8: 79,060,972	S256P	probably damaging	Het
Zzef1	T	C	11: 72,901,388	I2266T	probably damaging	Het

Other mutations in Zfp532

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02341:Zfp532	APN	18	65624778	missense	probably damaging	1.00
IGL02496:Zfp532	APN	18	65624042	missense	probably damaging	1.00
PIT4151001:Zfp532	UTSW	18	65624414	missense	probably damaging	1.00
R0048:Zfp532	UTSW	18	65644333	missense	probably damaging	1.00
R0076:Zfp532	UTSW	18	65685627	missense	probably benign	0.07
R0095:Zfp532	UTSW	18	65624784	missense	probably damaging	1.00
R0239:Zfp532	UTSW	18	65682985	missense	possibly damaging	0.63
R0239:Zfp532	UTSW	18	65682985	missense	possibly damaging	0.63
R0539:Zfp532	UTSW	18	65623766	missense	probably benign	0.04
R0948:Zfp532	UTSW	18	65623818	missense	probably damaging	1.00
R1447:Zfp532	UTSW	18	65624990	missense	probably damaging	1.00
R1645:Zfp532	UTSW	18	65687264	missense	probably benign	0.26
R1749:Zfp532	UTSW	18	65623484	missense	possibly damaging	0.83
R1797:Zfp532	UTSW	18	65625144	missense	probably benign	0.04
R1934:Zfp532	UTSW	18	65685611	missense	probably damaging	0.97
R1959:Zfp532	UTSW	18	65624492	missense	probably damaging	0.99
R2153:Zfp532	UTSW	18	65624927	missense	possibly damaging	0.93
R2280:Zfp532	UTSW	18	65624712	missense	probably damaging	0.96
R2281:Zfp532	UTSW	18	65624712	missense	probably damaging	0.96
R2847:Zfp532	UTSW	18	65656626	missense	possibly damaging	0.79
R2848:Zfp532	UTSW	18	65656626	missense	possibly damaging	0.79
R4483:Zfp532	UTSW	18	65656565	missense	probably benign	0.02
R4938:Zfp532	UTSW	18	65623766	missense	probably benign
R4947:Zfp532	UTSW	18	65625066	missense	possibly damaging	0.46
R5714:Zfp532	UTSW	18	65623535	missense	possibly damaging	0.93
R5920:Zfp532	UTSW	18	65644350	missense	probably benign
R6035:Zfp532	UTSW	18	65623934	missense	possibly damaging	0.95
R6035:Zfp532	UTSW	18	65623934	missense	possibly damaging	0.95
R6092:Zfp532	UTSW	18	65644210	missense	probably damaging	1.00
R6170:Zfp532	UTSW	18	65624438	missense	probably damaging	0.97
R6180:Zfp532	UTSW	18	65656471	missense	probably benign
R6889:Zfp532	UTSW	18	65686990	missense	possibly damaging	0.66
R7039:Zfp532	UTSW	18	65638763	missense	probably benign	0.44
R7095:Zfp532	UTSW	18	65682898	missense	probably benign
R7313:Zfp532	UTSW	18	65623005	missense	probably damaging	1.00
R7400:Zfp532	UTSW	18	65638913	missense	possibly damaging	0.52
R7882:Zfp532	UTSW	18	65623490	missense	probably benign
R8026:Zfp532	UTSW	18	65625156	missense	possibly damaging	0.66
R8444:Zfp532	UTSW	18	65624259	missense	possibly damaging	0.85
R8477:Zfp532	UTSW	18	65624066	missense	probably damaging	1.00
R8544:Zfp532	UTSW	18	65625156	missense	possibly damaging	0.84

Posted On

2015-04-16