Mutagenetix > Incidental Mutation

Incidental Mutation 'R5363:Zfp446'

422930

Institutional Source

Beutler Lab

Gene Symbol

Zfp446

Ensembl Gene

ENSMUSG00000033961

Gene Name

zinc finger protein 446

Synonyms

MMRRC Submission

042941-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R5363 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12977848-12985714 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 12978057 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 69 (R69H)

Ref Sequence

ENSEMBL: ENSMUSP00000039073 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038701] [ENSMUST00000045810] [ENSMUST00000108535] [ENSMUST00000108536] [ENSMUST00000108537] [ENSMUST00000124387] [ENSMUST00000128293]

AlphaFold

Q8C9M8

Predicted Effect

probably benign
Transcript: ENSMUST00000038701

SMART Domains

Protein: ENSMUSP00000041944
Gene: ENSMUSG00000004500

Domain	Start	End	E-Value	Type
KRAB	31	91	8.89e-30	SMART
ZnF_C2H2	291	313	2.95e-3	SMART
ZnF_C2H2	319	341	1.82e-3	SMART
ZnF_C2H2	347	369	6.88e-4	SMART
ZnF_C2H2	375	397	1.95e-3	SMART
ZnF_C2H2	403	425	2.71e-2	SMART
ZnF_C2H2	431	453	2.95e-3	SMART
ZnF_C2H2	459	481	2.75e-3	SMART
ZnF_C2H2	487	509	1.25e-1	SMART
ZnF_C2H2	515	537	7.37e-4	SMART
low complexity region	564	579	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000045810
AA Change: R69H

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000039073
Gene: ENSMUSG00000033961
AA Change: R69H

Domain	Start	End	E-Value	Type
low complexity region	67	79	N/A	INTRINSIC
SCAN	122	234	1.29e-53	SMART
KRAB	299	360	3.96e-2	SMART
ZnF_C2H2	419	441	2.95e-3	SMART
ZnF_C2H2	468	490	8.47e-4	SMART
ZnF_C2H2	496	518	5.34e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108535

SMART Domains

Protein: ENSMUSP00000104175
Gene: ENSMUSG00000033961

Domain	Start	End	E-Value	Type
SCAN	22	134	1.29e-53	SMART
KRAB	199	254	1.14e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108536

SMART Domains

Protein: ENSMUSP00000104176
Gene: ENSMUSG00000033961

Domain	Start	End	E-Value	Type
SCAN	22	134	1.29e-53	SMART
KRAB	199	260	3.96e-2	SMART
ZnF_C2H2	319	341	2.95e-3	SMART
ZnF_C2H2	368	390	8.47e-4	SMART
ZnF_C2H2	396	418	5.34e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108537

SMART Domains

Protein: ENSMUSP00000104177
Gene: ENSMUSG00000033961

Domain	Start	End	E-Value	Type
SCAN	22	128	7.37e-49	SMART
KRAB	124	185	3.96e-2	SMART
ZnF_C2H2	244	266	2.95e-3	SMART
ZnF_C2H2	293	315	8.47e-4	SMART
ZnF_C2H2	321	343	5.34e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124387

Predicted Effect

probably benign
Transcript: ENSMUST00000128293

SMART Domains

Protein: ENSMUSP00000124620
Gene: ENSMUSG00000004500

Domain	Start	End	E-Value	Type
KRAB	31	75	3.83e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128427

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147996

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030411F24Rik	G	T	2: 148,783,378	L77F	probably damaging	Het
Abca1	A	G	4: 53,132,963	I40T	probably benign	Het
Abca13	T	C	11: 9,277,035	V597A	possibly damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Anapc1	A	G	2: 128,650,194		probably null	Het
Ap4e1	G	A	2: 127,037,864		probably null	Het
Apod	T	C	16: 31,311,091	T16A	probably benign	Het
Arrdc5	C	T	17: 56,300,138	V36M	probably damaging	Het
Bcan	A	G	3: 87,995,487	V328A	probably damaging	Het
Bche	A	G	3: 73,700,639	Y485H	probably damaging	Het
Btbd6	A	G	12: 112,978,136	Y356C	probably damaging	Het
Cdh4	A	G	2: 179,886,763	T555A	probably benign	Het
Ciita	C	T	16: 10,512,167	H769Y	probably damaging	Het
Clspn	A	G	4: 126,561,786	D35G	possibly damaging	Het
Cpsf3	T	A	12: 21,308,985	M562K	probably benign	Het
Cwc22	ATCTCTCTCTCTCTCTCT	ATCTCTCTCTCTCTCT	2: 77,929,459		probably null	Het
Cyp2a22	T	A	7: 26,936,433	Q235L	probably damaging	Het
Dicer1	A	G	12: 104,703,151	S1091P	probably damaging	Het
Dync1li1	T	A	9: 114,715,229	I323N	probably damaging	Het
Fam196b	G	A	11: 34,402,788	E277K	probably damaging	Het
Fat4	A	G	3: 38,888,005	N349S	probably damaging	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Hectd4	T	C	5: 121,310,603	M338T	probably benign	Het
Lactb2	A	T	1: 13,630,132	I225N	probably benign	Het
Ltbr	G	A	6: 125,312,794	R146W	probably damaging	Het
Mrps30	A	G	13: 118,387,162	S25P	probably benign	Het
Myg1	T	C	15: 102,337,824	V378A	probably benign	Het
Notch4	C	T	17: 34,587,123	T1731I	probably damaging	Het
Ntmt1	A	G	2: 30,820,648	D121G	probably damaging	Het
Olfr1167	A	T	2: 88,149,802	D72E	probably damaging	Het
Olfr763	C	A	10: 129,011,914	P210T	probably damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pclo	A	G	5: 14,669,410	D1187G	unknown	Het
Pkd1	T	A	17: 24,565,073	Y198N	probably benign	Het
Plk4	T	A	3: 40,801,984	N83K	possibly damaging	Het
Prune2	A	T	19: 17,118,266	Q378L	probably damaging	Het
R3hdm4	C	T	10: 79,912,458	E162K	possibly damaging	Het
Rasa1	G	T	13: 85,288,555	T118K	possibly damaging	Het
Rin3	G	A	12: 102,325,834	V97M	probably damaging	Het
Rock2	T	C	12: 16,965,654		probably null	Het
Slc34a1	A	G	13: 55,403,268	I289V	probably benign	Het
Slc34a1	T	C	13: 55,412,290	L443P	probably damaging	Het
Slco2a1	A	T	9: 103,070,263	I254F	probably damaging	Het
Spink11	T	C	18: 44,195,686	I32V	probably benign	Het
Spire1	T	C	18: 67,506,555	E296G	probably damaging	Het
Sun1	A	G	5: 139,234,743	N410D	probably damaging	Het
Syt14	T	A	1: 192,930,663	T610S	possibly damaging	Het
Tenm3	T	C	8: 48,287,831	I1206V	possibly damaging	Het
Tet3	A	T	6: 83,376,764		probably null	Het
Thbs1	A	T	2: 118,122,666	Q919L	probably damaging	Het
Trappc10	A	G	10: 78,188,840	F1152L	possibly damaging	Het
Trp63	C	A	16: 25,863,718	N176K	probably damaging	Het
Zbtb17	A	G	4: 141,466,761	E700G	probably benign	Het
Zfy2	C	T	Y: 2,106,555	C693Y	possibly damaging	Het
Zxdc	A	G	6: 90,382,146	T587A	probably damaging	Het
Zyg11a	A	G	4: 108,189,622	C552R	probably damaging	Het

Other mutations in Zfp446

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01486:Zfp446	APN	7	12979380	critical splice donor site	probably null
IGL01534:Zfp446	APN	7	12979566	missense	probably damaging	1.00
IGL02471:Zfp446	APN	7	12982254	missense	probably benign	0.41
IGL02888:Zfp446	APN	7	12979328	missense	probably damaging	1.00
IGL03153:Zfp446	APN	7	12977907	missense	probably benign	0.01
IGL03185:Zfp446	APN	7	12978998	missense	probably null	0.43
IGL03242:Zfp446	APN	7	12979325	missense	probably damaging	1.00
R0538:Zfp446	UTSW	7	12979589	missense	possibly damaging	0.94
R1809:Zfp446	UTSW	7	12979121	missense	probably damaging	1.00
R3686:Zfp446	UTSW	7	12982653	missense	probably damaging	0.97
R3701:Zfp446	UTSW	7	12978152	unclassified	probably benign
R5256:Zfp446	UTSW	7	12979304	nonsense	probably null
R5377:Zfp446	UTSW	7	12982251	missense	possibly damaging	0.88
R6806:Zfp446	UTSW	7	12979116	missense	probably damaging	1.00
R7167:Zfp446	UTSW	7	12978122	unclassified	probably benign
R7988:Zfp446	UTSW	7	12979043	missense	possibly damaging	0.93
R8288:Zfp446	UTSW	7	12977958	missense	probably benign	0.00
R8487:Zfp446	UTSW	7	12982628	missense	possibly damaging	0.68
R8943:Zfp446	UTSW	7	12979637	nonsense	probably null
R9315:Zfp446	UTSW	7	12979470	missense	probably benign	0.28
Z1177:Zfp446	UTSW	7	12978166	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GTAAGGAGGCTAACCCACAGTC -3'
(R):5'- AGCCGGATTATGAAGCTGC -3'

Sequencing Primer
(F):5'- GCTAACCCACAGTCGGCTC -3'
(R):5'- ATTATGAAGCTGCGCCCG -3'

Posted On

2016-08-04