Mutagenetix > Incidental Mutation

Incidental Mutation 'R0416:Zfp62'

40329

Institutional Source

Beutler Lab

Gene Symbol

Zfp62

Ensembl Gene

ENSMUSG00000046311

Gene Name

zinc finger protein 62

Synonyms

MMRRC Submission

038618-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R0416 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49094119-49109643 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 49106503 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 198 (H198L)

Ref Sequence

ENSEMBL: ENSMUSP00000116045 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061757] [ENSMUST00000109197] [ENSMUST00000109198] [ENSMUST00000133150] [ENSMUST00000136539] [ENSMUST00000136691] [ENSMUST00000180016] [ENSMUST00000150284] [ENSMUST00000151228] [ENSMUST00000137061]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000061757
AA Change: H198L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000056226
Gene: ENSMUSG00000046311
AA Change: H198L

Domain	Start	End	E-Value	Type
ZnF_C2H2	124	146	7.26e-3	SMART
ZnF_C2H2	152	174	7.26e-3	SMART
ZnF_C2H2	180	202	2.75e-3	SMART
ZnF_C2H2	208	230	2.71e-2	SMART
ZnF_C2H2	236	258	7.37e-4	SMART
ZnF_C2H2	264	286	2.27e-4	SMART
ZnF_C2H2	292	314	4.11e-2	SMART
ZnF_C2H2	320	342	1.03e-2	SMART
ZnF_C2H2	348	370	4.54e-4	SMART
ZnF_C2H2	376	398	4.47e-3	SMART
ZnF_C2H2	404	426	4.4e-2	SMART
ZnF_C2H2	432	454	2.43e-4	SMART
ZnF_C2H2	460	482	1.38e-3	SMART
ZnF_C2H2	488	510	2.79e-4	SMART
ZnF_C2H2	516	538	5.9e-3	SMART
ZnF_C2H2	544	566	3.39e-3	SMART
ZnF_C2H2	572	594	3.89e-3	SMART
ZnF_C2H2	600	622	5.5e-3	SMART
ZnF_C2H2	628	650	2.75e-3	SMART
ZnF_C2H2	656	678	3.63e-3	SMART
ZnF_C2H2	684	706	7.9e-4	SMART
ZnF_C2H2	712	734	8.34e-3	SMART
ZnF_C2H2	740	762	1.98e-4	SMART
ZnF_C2H2	768	790	1.53e-1	SMART
ZnF_C2H2	796	817	1.16e1	SMART
ZnF_C2H2	823	845	5.99e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000109197
AA Change: H198L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104820
Gene: ENSMUSG00000046311
AA Change: H198L

Domain	Start	End	E-Value	Type
ZnF_C2H2	124	146	7.26e-3	SMART
ZnF_C2H2	152	174	7.26e-3	SMART
ZnF_C2H2	180	202	2.75e-3	SMART
ZnF_C2H2	208	230	2.71e-2	SMART
ZnF_C2H2	236	258	7.37e-4	SMART
ZnF_C2H2	264	286	2.27e-4	SMART
ZnF_C2H2	292	314	4.11e-2	SMART
ZnF_C2H2	320	342	1.03e-2	SMART
ZnF_C2H2	348	370	4.54e-4	SMART
ZnF_C2H2	376	398	4.47e-3	SMART
ZnF_C2H2	404	426	4.4e-2	SMART
ZnF_C2H2	432	454	2.43e-4	SMART
ZnF_C2H2	460	482	1.38e-3	SMART
ZnF_C2H2	488	510	2.79e-4	SMART
ZnF_C2H2	516	538	5.9e-3	SMART
ZnF_C2H2	544	566	3.39e-3	SMART
ZnF_C2H2	572	594	3.89e-3	SMART
ZnF_C2H2	600	622	5.5e-3	SMART
ZnF_C2H2	628	650	2.75e-3	SMART
ZnF_C2H2	656	678	3.63e-3	SMART
ZnF_C2H2	684	706	7.9e-4	SMART
ZnF_C2H2	712	734	8.34e-3	SMART
ZnF_C2H2	740	762	1.98e-4	SMART
ZnF_C2H2	768	790	1.53e-1	SMART
ZnF_C2H2	796	817	1.16e1	SMART
ZnF_C2H2	823	845	5.99e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000109198
AA Change: H198L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104821
Gene: ENSMUSG00000046311
AA Change: H198L

Domain	Start	End	E-Value	Type
ZnF_C2H2	124	146	7.26e-3	SMART
ZnF_C2H2	152	174	7.26e-3	SMART
ZnF_C2H2	180	202	2.75e-3	SMART
ZnF_C2H2	208	230	2.71e-2	SMART
ZnF_C2H2	236	258	7.37e-4	SMART
ZnF_C2H2	264	286	2.27e-4	SMART
ZnF_C2H2	292	314	4.11e-2	SMART
ZnF_C2H2	320	342	1.03e-2	SMART
ZnF_C2H2	348	370	4.54e-4	SMART
ZnF_C2H2	376	398	4.47e-3	SMART
ZnF_C2H2	404	426	4.4e-2	SMART
ZnF_C2H2	432	454	2.43e-4	SMART
ZnF_C2H2	460	482	1.38e-3	SMART
ZnF_C2H2	488	510	2.79e-4	SMART
ZnF_C2H2	516	538	5.9e-3	SMART
ZnF_C2H2	544	566	3.39e-3	SMART
ZnF_C2H2	572	594	3.89e-3	SMART
ZnF_C2H2	600	622	5.5e-3	SMART
ZnF_C2H2	628	650	2.75e-3	SMART
ZnF_C2H2	656	678	3.63e-3	SMART
ZnF_C2H2	684	706	7.9e-4	SMART
ZnF_C2H2	712	734	8.34e-3	SMART
ZnF_C2H2	740	762	1.98e-4	SMART
ZnF_C2H2	768	790	1.53e-1	SMART
ZnF_C2H2	796	817	1.16e1	SMART
ZnF_C2H2	823	845	5.99e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128932

Predicted Effect

probably benign
Transcript: ENSMUST00000133150

Predicted Effect

probably damaging
Transcript: ENSMUST00000136539
AA Change: H198L

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

SMART Domains

Protein: ENSMUSP00000116045
Gene: ENSMUSG00000046311
AA Change: H198L

Domain	Start	End	E-Value	Type
ZnF_C2H2	124	146	7.26e-3	SMART
ZnF_C2H2	152	174	7.26e-3	SMART
ZnF_C2H2	180	202	2.75e-3	SMART
ZnF_C2H2	208	230	2.71e-2	SMART
ZnF_C2H2	236	258	7.37e-4	SMART
ZnF_C2H2	264	286	2.27e-4	SMART
ZnF_C2H2	292	314	4.11e-2	SMART
ZnF_C2H2	320	342	1.03e-2	SMART
ZnF_C2H2	348	370	4.54e-4	SMART
ZnF_C2H2	376	398	4.47e-3	SMART
ZnF_C2H2	404	426	4.4e-2	SMART
ZnF_C2H2	432	454	2.43e-4	SMART
ZnF_C2H2	460	482	1.38e-3	SMART
ZnF_C2H2	488	510	2.79e-4	SMART
ZnF_C2H2	516	538	5.9e-3	SMART
ZnF_C2H2	544	566	3.39e-3	SMART
ZnF_C2H2	572	594	3.89e-3	SMART
ZnF_C2H2	600	622	5.5e-3	SMART
ZnF_C2H2	628	650	2.75e-3	SMART
ZnF_C2H2	656	678	3.63e-3	SMART
ZnF_C2H2	684	706	7.9e-4	SMART
ZnF_C2H2	712	734	8.34e-3	SMART
ZnF_C2H2	740	762	1.98e-4	SMART
ZnF_C2H2	768	790	1.53e-1	SMART
ZnF_C2H2	796	817	1.16e1	SMART
ZnF_C2H2	823	845	5.99e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000136691

Predicted Effect

probably damaging
Transcript: ENSMUST00000180016
AA Change: H198L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000137583
Gene: ENSMUSG00000046311
AA Change: H198L

Domain	Start	End	E-Value	Type
ZnF_C2H2	124	146	7.26e-3	SMART
ZnF_C2H2	152	174	7.26e-3	SMART
ZnF_C2H2	180	202	2.75e-3	SMART
ZnF_C2H2	208	230	2.71e-2	SMART
ZnF_C2H2	236	258	7.37e-4	SMART
ZnF_C2H2	264	286	2.27e-4	SMART
ZnF_C2H2	292	314	4.11e-2	SMART
ZnF_C2H2	320	342	1.03e-2	SMART
ZnF_C2H2	348	370	4.54e-4	SMART
ZnF_C2H2	376	398	4.47e-3	SMART
ZnF_C2H2	404	426	4.4e-2	SMART
ZnF_C2H2	432	454	2.43e-4	SMART
ZnF_C2H2	460	482	1.38e-3	SMART
ZnF_C2H2	488	510	2.79e-4	SMART
ZnF_C2H2	516	538	5.9e-3	SMART
ZnF_C2H2	544	566	3.39e-3	SMART
ZnF_C2H2	572	594	3.89e-3	SMART
ZnF_C2H2	600	622	5.5e-3	SMART
ZnF_C2H2	628	650	2.75e-3	SMART
ZnF_C2H2	656	678	3.63e-3	SMART
ZnF_C2H2	684	706	7.9e-4	SMART
ZnF_C2H2	712	734	8.34e-3	SMART
ZnF_C2H2	740	762	1.98e-4	SMART
ZnF_C2H2	768	790	1.53e-1	SMART
ZnF_C2H2	796	817	1.16e1	SMART
ZnF_C2H2	823	845	5.99e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157023

Predicted Effect

probably benign
Transcript: ENSMUST00000150284

Predicted Effect

probably benign
Transcript: ENSMUST00000151228

SMART Domains

Protein: ENSMUSP00000117774
Gene: ENSMUSG00000046311

Domain	Start	End	E-Value	Type
ZnF_C2H2	124	146	7.26e-3	SMART
ZnF_C2H2	152	174	7.26e-3	SMART
Pfam:zf-C2H2_6	179	195	2.3e-3	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137061

Meta Mutation Damage Score

0.9241

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.2%
20x: 91.8%

Validation Efficiency

99% (74/75)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	A	G	7: 119,162,779 (GRCm39)	I18V	probably benign	Het
Adamdec1	T	G	14: 68,806,161 (GRCm39)	E438A	possibly damaging	Het
Adamts17	A	G	7: 66,565,646 (GRCm39)		probably null	Het
Ankrd44	T	G	1: 54,782,498 (GRCm39)	I359L	possibly damaging	Het
Ap2s1	C	A	7: 16,481,290 (GRCm39)	N86K	probably damaging	Het
Arih1	T	A	9: 59,333,993 (GRCm39)		probably benign	Het
Astn1	T	A	1: 158,337,461 (GRCm39)	I389N	probably damaging	Het
Brca2	T	C	5: 150,492,857 (GRCm39)	S3291P	possibly damaging	Het
Cacna1d	T	C	14: 29,822,645 (GRCm39)		probably benign	Het
Ccl7	C	A	11: 81,936,692 (GRCm39)		probably benign	Het
Cd74	A	T	18: 60,944,486 (GRCm39)	Y232F	possibly damaging	Het
Cep128	A	G	12: 91,197,641 (GRCm39)		probably benign	Het
Cep89	T	A	7: 35,115,827 (GRCm39)		probably benign	Het
Cmya5	T	G	13: 93,226,364 (GRCm39)	N2908T	probably benign	Het
Coil	T	C	11: 88,872,812 (GRCm39)	L391S	possibly damaging	Het
Cpd	C	T	11: 76,676,030 (GRCm39)	V1208I	probably benign	Het
Ddx19a	T	C	8: 111,705,689 (GRCm39)	D254G	probably damaging	Het
Desi2	T	A	1: 178,083,887 (GRCm39)		probably benign	Het
Dnah11	A	T	12: 117,874,793 (GRCm39)	M4024K	probably damaging	Het
Ergic2	A	T	6: 148,084,642 (GRCm39)	L53H	probably damaging	Het
Etv2	T	C	7: 30,334,058 (GRCm39)	Y225C	probably benign	Het
F10	G	A	8: 13,105,448 (GRCm39)	A338T	probably damaging	Het
Fam228b	T	A	12: 4,812,382 (GRCm39)	D132V	probably damaging	Het
Fat2	T	A	11: 55,174,960 (GRCm39)	I1918F	possibly damaging	Het
Fbxw5	C	T	2: 25,393,251 (GRCm39)	S214F	probably damaging	Het
Glyat	G	A	19: 12,628,817 (GRCm39)	R204Q	possibly damaging	Het
Gm4825	T	C	15: 85,395,182 (GRCm39)		noncoding transcript	Het
Ino80d	G	T	1: 63,125,435 (GRCm39)	T9K	possibly damaging	Het
Lifr	A	T	15: 7,196,395 (GRCm39)	D193V	probably damaging	Het
Lrp12	G	T	15: 39,742,307 (GRCm39)		probably benign	Het
Lrp3	A	G	7: 34,901,778 (GRCm39)	V701A	probably benign	Het
Mfsd11	T	A	11: 116,756,708 (GRCm39)		probably benign	Het
Mrto4	A	T	4: 139,077,043 (GRCm39)		probably null	Het
Msi1	T	C	5: 115,568,708 (GRCm39)	F43L	possibly damaging	Het
Mthfsd	T	C	8: 121,827,976 (GRCm39)	D168G	probably damaging	Het
Myo15a	T	A	11: 60,402,000 (GRCm39)	V3099E	probably damaging	Het
Myrf	T	C	19: 10,193,176 (GRCm39)		probably null	Het
Nadk	C	A	4: 155,672,256 (GRCm39)		probably benign	Het
Nav1	T	C	1: 135,398,864 (GRCm39)	K573E	possibly damaging	Het
Ndufs3	A	G	2: 90,728,732 (GRCm39)	V207A	probably damaging	Het
Nlrp3	T	C	11: 59,446,750 (GRCm39)		probably benign	Het
Nlrx1	T	G	9: 44,174,211 (GRCm39)	D330A	probably benign	Het
Or2a56	G	A	6: 42,932,504 (GRCm39)	C24Y	probably benign	Het
Or2t49	T	C	11: 58,393,222 (GRCm39)	I53M	unknown	Het
Osbpl3	C	T	6: 50,324,998 (GRCm39)	V167I	probably benign	Het
Pcnx1	A	T	12: 82,021,240 (GRCm39)	I1410F	probably benign	Het
Piezo2	G	A	18: 63,157,562 (GRCm39)	R2383C	probably damaging	Het
Pip5kl1	A	T	2: 32,473,436 (GRCm39)	K358*	probably null	Het
Polg	T	C	7: 79,101,988 (GRCm39)		probably benign	Het
Prr14l	T	A	5: 32,986,061 (GRCm39)	I1145F	probably benign	Het
Psmb1	C	T	17: 15,714,781 (GRCm39)	V39I	probably benign	Het
Ptk6	T	C	2: 180,844,101 (GRCm39)	Y66C	possibly damaging	Het
Robo4	T	C	9: 37,316,062 (GRCm39)		probably benign	Het
Sdk2	A	G	11: 113,694,029 (GRCm39)	Y1801H	probably damaging	Het
Serpinb3a	C	A	1: 106,977,116 (GRCm39)	A95S	probably benign	Het
Setd1a	CTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	CTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	7: 127,384,469 (GRCm39)		probably benign	Het
Sik2	A	T	9: 50,906,932 (GRCm39)	Y98N	probably damaging	Het
Slc30a1	C	T	1: 191,641,838 (GRCm39)	P495S	probably benign	Het
Smg1	A	T	7: 117,783,684 (GRCm39)		probably benign	Het
Stk3	T	A	15: 35,114,778 (GRCm39)	I45L	probably benign	Het
Tapbp	A	G	17: 34,144,392 (GRCm39)	T163A	probably damaging	Het
Tdrd5	T	C	1: 156,113,051 (GRCm39)	K410E	probably damaging	Het
Trim30b	A	T	7: 104,012,973 (GRCm39)	M152K	probably benign	Het
Trpm6	G	T	19: 18,760,389 (GRCm39)		probably benign	Het
Tsc22d1	T	C	14: 76,742,743 (GRCm39)		probably benign	Het
U2surp	A	T	9: 95,367,660 (GRCm39)	F444I	probably damaging	Het
Vmn2r95	C	T	17: 18,661,664 (GRCm39)	P470L	probably damaging	Het
Zc3h4	T	G	7: 16,154,200 (GRCm39)	Y163D	probably damaging	Het
Zmym1	A	G	4: 126,952,613 (GRCm39)	L56P	probably benign	Het

Other mutations in Zfp62

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03342:Zfp62	APN	11	49,106,298 (GRCm39)	nonsense	probably null
R0540:Zfp62	UTSW	11	49,106,227 (GRCm39)	missense	probably benign
R0607:Zfp62	UTSW	11	49,106,227 (GRCm39)	missense	probably benign
R1119:Zfp62	UTSW	11	49,107,517 (GRCm39)	missense	probably damaging	0.99
R1230:Zfp62	UTSW	11	49,105,926 (GRCm39)	missense	probably damaging	0.96
R1644:Zfp62	UTSW	11	49,106,596 (GRCm39)	missense	probably damaging	0.99
R1710:Zfp62	UTSW	11	49,108,510 (GRCm39)	missense	probably benign
R1840:Zfp62	UTSW	11	49,107,215 (GRCm39)	missense	probably damaging	1.00
R1908:Zfp62	UTSW	11	49,107,047 (GRCm39)	missense	probably damaging	0.99
R3878:Zfp62	UTSW	11	49,105,960 (GRCm39)	missense	probably damaging	0.99
R4571:Zfp62	UTSW	11	49,106,569 (GRCm39)	missense	probably damaging	1.00
R4571:Zfp62	UTSW	11	49,106,568 (GRCm39)	missense	probably damaging	1.00
R4580:Zfp62	UTSW	11	49,107,099 (GRCm39)	missense	possibly damaging	0.91
R4631:Zfp62	UTSW	11	49,108,632 (GRCm39)	makesense	probably null
R5022:Zfp62	UTSW	11	49,106,556 (GRCm39)	missense	probably damaging	0.96
R5023:Zfp62	UTSW	11	49,106,556 (GRCm39)	missense	probably damaging	0.96
R5289:Zfp62	UTSW	11	49,107,975 (GRCm39)	missense	probably damaging	0.98
R5362:Zfp62	UTSW	11	49,107,439 (GRCm39)	missense	probably damaging	1.00
R5685:Zfp62	UTSW	11	49,107,044 (GRCm39)	nonsense	probably null
R6420:Zfp62	UTSW	11	49,107,340 (GRCm39)	missense	probably damaging	1.00
R6764:Zfp62	UTSW	11	49,105,996 (GRCm39)	missense	probably damaging	0.99
R7000:Zfp62	UTSW	11	49,107,206 (GRCm39)	nonsense	probably null
R7016:Zfp62	UTSW	11	49,106,764 (GRCm39)	missense	probably damaging	0.98
R7175:Zfp62	UTSW	11	49,107,580 (GRCm39)	missense	probably damaging	0.99
R7670:Zfp62	UTSW	11	49,105,903 (GRCm39)	start gained	probably benign
R7675:Zfp62	UTSW	11	49,106,847 (GRCm39)	missense	possibly damaging	0.75
R7686:Zfp62	UTSW	11	49,107,985 (GRCm39)	missense	probably damaging	1.00
R7801:Zfp62	UTSW	11	49,108,155 (GRCm39)	missense	possibly damaging	0.88
R8190:Zfp62	UTSW	11	49,106,902 (GRCm39)	missense	probably damaging	1.00
R8390:Zfp62	UTSW	11	49,106,019 (GRCm39)	missense	probably benign	0.02
R8401:Zfp62	UTSW	11	49,108,218 (GRCm39)	missense	probably damaging	1.00
R8479:Zfp62	UTSW	11	49,107,319 (GRCm39)	missense	probably damaging	0.98
R8735:Zfp62	UTSW	11	49,108,227 (GRCm39)	missense	probably damaging	1.00
R8809:Zfp62	UTSW	11	49,107,238 (GRCm39)	missense	probably damaging	0.98
R8972:Zfp62	UTSW	11	49,106,892 (GRCm39)	missense	possibly damaging	0.66
R9220:Zfp62	UTSW	11	49,106,075 (GRCm39)	missense	probably benign	0.17
R9261:Zfp62	UTSW	11	49,108,350 (GRCm39)	missense	probably benign	0.20
R9484:Zfp62	UTSW	11	49,108,108 (GRCm39)	missense	probably damaging	0.98
R9599:Zfp62	UTSW	11	49,106,542 (GRCm39)	missense	probably damaging	1.00
R9640:Zfp62	UTSW	11	49,106,458 (GRCm39)	missense	probably benign	0.21
R9781:Zfp62	UTSW	11	49,106,297 (GRCm39)	nonsense	probably null
X0011:Zfp62	UTSW	11	49,106,425 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2013-05-23