Mutagenetix > Incidental Mutation

Incidental Mutation 'R4273:Zfp229'

322300

Institutional Source

Beutler Lab

Gene Symbol

Zfp229

Ensembl Gene

ENSMUSG00000061544

Gene Name

zinc finger protein 229

Synonyms

MMRRC Submission

041645-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

R4273 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21730795-21769342 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21746821 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 677 (S677R)

Ref Sequence

ENSEMBL: ENSMUSP00000138107 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065871] [ENSMUST00000182603] [ENSMUST00000182827] [ENSMUST00000183192]

AlphaFold

E9PWT2

Predicted Effect

probably benign
Transcript: ENSMUST00000065871
AA Change: S677R

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000065379
Gene: ENSMUSG00000061544
AA Change: S677R

Domain	Start	End	E-Value	Type
KRAB	13	73	7.74e-30	SMART
ZnF_C2H2	229	249	1.88e2	SMART
ZnF_C2H2	257	279	1.38e-3	SMART
ZnF_C2H2	285	307	3.63e-3	SMART
ZnF_C2H2	312	334	9.44e-2	SMART
ZnF_C2H2	340	362	3.58e-2	SMART
ZnF_C2H2	368	390	2.99e-4	SMART
ZnF_C2H2	395	417	2.36e-2	SMART
ZnF_C2H2	423	445	2.09e-3	SMART
ZnF_C2H2	451	473	1.18e-2	SMART
ZnF_C2H2	479	501	6.78e-3	SMART
ZnF_C2H2	507	529	1.28e-3	SMART
ZnF_C2H2	535	557	7.05e-1	SMART
ZnF_C2H2	562	584	8.02e-5	SMART
ZnF_C2H2	590	612	9.58e-3	SMART
ZnF_C2H2	618	640	7.78e-3	SMART
ZnF_C2H2	646	668	3.83e-2	SMART
ZnF_C2H2	674	696	1.72e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182603
AA Change: S677R

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000138107
Gene: ENSMUSG00000061544
AA Change: S677R

Domain	Start	End	E-Value	Type
KRAB	13	73	7.74e-30	SMART
Pfam:zf-C2H2_6	205	219	3.9e-1	PFAM
ZnF_C2H2	229	249	1.88e2	SMART
ZnF_C2H2	257	279	1.38e-3	SMART
ZnF_C2H2	285	307	3.63e-3	SMART
ZnF_C2H2	312	334	9.44e-2	SMART
ZnF_C2H2	340	362	3.58e-2	SMART
ZnF_C2H2	368	390	2.99e-4	SMART
ZnF_C2H2	395	417	2.36e-2	SMART
ZnF_C2H2	423	445	2.09e-3	SMART
ZnF_C2H2	451	473	1.18e-2	SMART
ZnF_C2H2	479	501	6.78e-3	SMART
ZnF_C2H2	507	529	1.28e-3	SMART
ZnF_C2H2	535	557	7.05e-1	SMART
ZnF_C2H2	562	584	8.02e-5	SMART
ZnF_C2H2	590	612	9.58e-3	SMART
ZnF_C2H2	618	640	7.78e-3	SMART
ZnF_C2H2	646	668	3.83e-2	SMART
ZnF_C2H2	674	696	1.72e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182827

SMART Domains

Protein: ENSMUSP00000138478
Gene: ENSMUSG00000061544

Domain	Start	End	E-Value	Type
KRAB	13	73	7.74e-30	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000183192

SMART Domains

Protein: ENSMUSP00000138265
Gene: ENSMUSG00000061544

Domain	Start	End	E-Value	Type
KRAB	13	73	7.74e-30	SMART

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer2	T	A	4: 86,874,598		probably null	Het
Adgrf2	T	A	17: 42,710,122	T604S	probably damaging	Het
Akap8l	T	A	17: 32,321,931	K533*	probably null	Het
Appbp2	T	C	11: 85,234,676	Y45C	probably damaging	Het
Arap2	T	C	5: 62,670,979	I950V	possibly damaging	Het
Arhgap31	T	C	16: 38,602,335	E1123G	possibly damaging	Het
Atp2c1	G	T	9: 105,435,140	N493K	probably benign	Het
Bcr	T	C	10: 75,125,111	I458T	probably damaging	Het
Brd4	G	A	17: 32,214,782	T468I	probably benign	Het
Cdh23	T	A	10: 60,311,161	D2774V	possibly damaging	Het
Cfdp1	T	C	8: 111,768,785	Y267C	probably damaging	Het
Chd6	C	A	2: 160,961,291	A2156S	probably benign	Het
Dazap2	C	A	15: 100,618,090	P100T	probably damaging	Het
Disp1	T	A	1: 183,087,644	I1071F	possibly damaging	Het
Dlgap1	T	A	17: 70,766,043	S686T	probably benign	Het
Dst	C	T	1: 34,192,340	R3183C	possibly damaging	Het
Enpp4	T	C	17: 44,101,807	N279D	probably benign	Het
Exoc3l	T	C	8: 105,289,961	*740W	probably null	Het
Exoc5	A	T	14: 49,015,480	C625*	probably null	Het
Fam98b	A	T	2: 117,260,231	N137Y	possibly damaging	Het
Fat4	T	A	3: 38,891,627	D1556E	probably damaging	Het
Fcer2a	C	A	8: 3,682,848	V319L	possibly damaging	Het
Fer1l6	T	C	15: 58,627,522	V1247A	probably benign	Het
Fmo4	A	G	1: 162,805,179	V201A	probably damaging	Het
Fras1	G	A	5: 96,614,904	G755D	probably benign	Het
Gm13078	A	T	4: 143,726,846	K175*	probably null	Het
Grid2	T	C	6: 63,909,045	Y142H	probably damaging	Het
Hspg2	C	T	4: 137,518,940	R1010C	probably damaging	Het
Ibtk	T	C	9: 85,726,731	Q376R	probably damaging	Het
Impdh2	T	C	9: 108,564,956	M414T	probably damaging	Het
Itm2c	A	G	1: 85,907,029	T160A	probably damaging	Het
Kcna2	T	A	3: 107,105,193	D363E	probably benign	Het
Lama2	C	T	10: 27,347,054	C412Y	probably damaging	Het
Lims2	C	G	18: 31,956,337	T151S	probably benign	Het
Mier1	T	C	4: 103,162,431	S423P	possibly damaging	Het
Mrgpra3	A	T	7: 47,589,432	W249R	probably benign	Het
Mtor	A	G	4: 148,550,152	H2410R	probably benign	Het
Mvp	C	T	7: 126,989,703	A631T	probably benign	Het
Nepro	T	C	16: 44,735,829	V450A	possibly damaging	Het
Ngrn	T	C	7: 80,264,521	V140A	probably damaging	Het
Nobox	T	C	6: 43,306,008	E231G	probably benign	Het
Olfr129	A	T	17: 38,055,272	I98N	probably damaging	Het
P3h2	T	A	16: 26,105,221	I155F	probably benign	Het
Pcdha3	C	T	18: 36,948,091	R629C	probably damaging	Het
Riok3	AGAAGCGG	AG	18: 12,135,941		probably benign	Het
Rttn	T	C	18: 89,091,896	I1675T	probably benign	Het
Sall2	C	A	14: 52,313,803	R643L	probably damaging	Het
Slc35f4	G	T	14: 49,304,301	T182N	possibly damaging	Het
Slc52a3	T	A	2: 152,005,740	I256N	possibly damaging	Het
Sox9	T	C	11: 112,785,154	S390P	possibly damaging	Het
Tango2	T	C	16: 18,302,790		probably benign	Het
Tas1r1	T	C	4: 152,032,157	E340G	possibly damaging	Het
Tek	G	A	4: 94,829,970	G524R	probably damaging	Het
Tmem260	A	T	14: 48,505,304	Y532F	probably benign	Het
Tsks	C	A	7: 44,957,929	L559I	probably damaging	Het
Unc79	C	A	12: 103,122,353	L1702I	probably damaging	Het
Vmn1r14	T	A	6: 57,234,148	I237N	probably damaging	Het
Vmn2r17	G	A	5: 109,452,966	C710Y	probably benign	Het
Zfp119b	G	T	17: 55,938,926	T420K	possibly damaging	Het
Zfp202	C	T	9: 40,207,494	R68*	probably null	Het
Zfp462	C	T	4: 55,008,411	H126Y	probably benign	Het
Zfp52	C	A	17: 21,560,197	Y102*	probably null	Het
Zfp616	T	A	11: 74,083,700	M265K	probably benign	Het
Zfyve9	A	T	4: 108,680,976	I1031N	probably damaging	Het
Zmynd11	T	C	13: 9,697,690	Y203C	probably damaging	Het

Other mutations in Zfp229

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00733:Zfp229	APN	17	21739502	missense	possibly damaging	0.52
R0268:Zfp229	UTSW	17	21745841	missense	probably benign
R0344:Zfp229	UTSW	17	21745841	missense	probably benign
R0608:Zfp229	UTSW	17	21746634	missense	probably damaging	1.00
R1672:Zfp229	UTSW	17	21745847	missense	probably damaging	1.00
R2215:Zfp229	UTSW	17	21746277	missense	possibly damaging	0.90
R2519:Zfp229	UTSW	17	21745587	missense	possibly damaging	0.89
R2937:Zfp229	UTSW	17	21745503	missense	probably damaging	1.00
R2965:Zfp229	UTSW	17	21746029	missense	probably damaging	1.00
R3108:Zfp229	UTSW	17	21746816	missense	probably damaging	1.00
R3768:Zfp229	UTSW	17	21745863	missense	probably damaging	1.00
R3778:Zfp229	UTSW	17	21745202	missense	probably benign	0.44
R3850:Zfp229	UTSW	17	21745862	missense	probably damaging	1.00
R4731:Zfp229	UTSW	17	21745286	missense	possibly damaging	0.73
R4732:Zfp229	UTSW	17	21745286	missense	possibly damaging	0.73
R4733:Zfp229	UTSW	17	21745286	missense	possibly damaging	0.73
R4818:Zfp229	UTSW	17	21743904	missense	probably benign	0.33
R4929:Zfp229	UTSW	17	21746373	missense	probably damaging	1.00
R5512:Zfp229	UTSW	17	21745036	splice site	probably null
R7124:Zfp229	UTSW	17	21742616	missense	probably damaging	0.98
R7511:Zfp229	UTSW	17	21745064	missense	probably benign	0.00
R7576:Zfp229	UTSW	17	21745299	missense	probably damaging	1.00
R7840:Zfp229	UTSW	17	21746150	nonsense	probably null
R8396:Zfp229	UTSW	17	21746096	missense	probably damaging	1.00
R8427:Zfp229	UTSW	17	21746834	missense	probably damaging	1.00
R8725:Zfp229	UTSW	17	21745847	missense	probably damaging	1.00
R8727:Zfp229	UTSW	17	21745847	missense	probably damaging	1.00
R8770:Zfp229	UTSW	17	21745814	missense	probably damaging	1.00
R9005:Zfp229	UTSW	17	21746750	missense	possibly damaging	0.86
R9029:Zfp229	UTSW	17	21745340	missense	possibly damaging	0.93
R9162:Zfp229	UTSW	17	21745514	missense	probably damaging	1.00
R9569:Zfp229	UTSW	17	21745592	missense	possibly damaging	0.78
R9726:Zfp229	UTSW	17	21746373	missense	probably damaging	1.00
R9760:Zfp229	UTSW	17	21746294	missense	probably damaging	1.00
Z1177:Zfp229	UTSW	17	21743942	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAGGCCTTCTATCAACTATCTCATCTG -3'
(R):5'- CTGTAAAGGCCTTCTCAGATTTCCC -3'

Sequencing Primer
(F):5'- ACCGTATAAATGTGATGAATGTGAG -3'
(R):5'- CCCATGTTCATAATGTTTTTCTGGAG -3'

Posted On

2015-06-20