Mutagenetix > Incidental Mutation

Incidental Mutation 'R4929:Zfp229'

381113

Institutional Source

Beutler Lab

Gene Symbol

Zfp229

Ensembl Gene

ENSMUSG00000061544

Gene Name

zinc finger protein 229

Synonyms

MMRRC Submission

042530-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R4929 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21949936-21967950 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21965354 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 528 (I528N)

Ref Sequence

ENSEMBL: ENSMUSP00000138107 (fasta)

Gene Model

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

AlphaFold

E9PWT2

Predicted Effect

probably damaging
Transcript: ENSMUST00000065871
AA Change: I528N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000065379
Gene: ENSMUSG00000061544
AA Change: I528N

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 damaging
Transcript: ENSMUST00000182603
AA Change: I528N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138107
Gene: ENSMUSG00000061544
AA Change: I528N

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

Meta Mutation Damage Score

0.4998

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.9%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	G	7: 29,273,467 (GRCm39)		noncoding transcript	Het
Abcd3	A	T	3: 121,562,395 (GRCm39)		probably null	Het
Adamts12	C	T	15: 11,259,108 (GRCm39)	R551C	probably damaging	Het
Adamtsl4	A	G	3: 95,585,315 (GRCm39)	C818R	probably damaging	Het
Arfgef3	T	A	10: 18,506,599 (GRCm39)	Q842L	probably benign	Het
Aurka	A	T	2: 172,212,326 (GRCm39)	V17E	probably benign	Het
Cdh24	C	T	14: 54,870,973 (GRCm39)	V132I	probably benign	Het
Cep57l1	T	C	10: 41,621,910 (GRCm39)	D2G	possibly damaging	Het
Cntn5	T	A	9: 9,976,400 (GRCm39)		probably null	Het
Col10a1	T	C	10: 34,271,120 (GRCm39)	I364T	probably benign	Het
Dpp6	G	A	5: 27,254,785 (GRCm39)	A67T	probably benign	Het
Dym	T	A	18: 75,376,357 (GRCm39)	V583E	probably damaging	Het
Efcab5	T	G	11: 76,994,209 (GRCm39)	K1259N	probably benign	Het
Ehbp1	T	G	11: 22,189,169 (GRCm39)	I78L	possibly damaging	Het
Epha1	C	A	6: 42,341,533 (GRCm39)	A469S	probably benign	Het
Fam135a	T	C	1: 24,069,081 (GRCm39)	D596G	probably benign	Het
Filip1	T	C	9: 79,727,029 (GRCm39)	N530S	probably benign	Het
Gm57858	G	A	3: 36,089,487 (GRCm39)	L146F	probably damaging	Het
Grhl2	A	G	15: 37,361,046 (GRCm39)	N610S	probably benign	Het
Haus6	T	C	4: 86,513,670 (GRCm39)	I331V	probably benign	Het
Ints2	G	T	11: 86,103,479 (GRCm39)	N1192K	possibly damaging	Het
Itga5	A	G	15: 103,261,662 (GRCm39)	V445A	probably benign	Het
Itga9	C	A	9: 118,636,317 (GRCm39)	D82E	probably damaging	Het
Jam2	G	A	16: 84,619,750 (GRCm39)		probably benign	Het
Klhl32	T	A	4: 24,709,030 (GRCm39)	I112F	probably damaging	Het
Lepr	A	G	4: 101,672,314 (GRCm39)	I1113V	probably benign	Het
Lrrc3b	C	A	14: 15,357,888 (GRCm38)	L239F	probably damaging	Het
Lzic	T	A	4: 149,572,585 (GRCm39)		probably null	Het
Mxra8	T	A	4: 155,927,118 (GRCm39)	F351I	probably damaging	Het
Naa40	A	G	19: 7,207,347 (GRCm39)	F126L	probably damaging	Het
Nbeal1	C	T	1: 60,277,813 (GRCm39)	S733F	probably damaging	Het
Olr1	T	C	6: 129,477,044 (GRCm39)	T74A	probably damaging	Het
Or52x1	A	G	7: 104,853,232 (GRCm39)	I106T	probably damaging	Het
Or5aq7	A	G	2: 86,938,527 (GRCm39)	F68S	possibly damaging	Het
Or5h17	A	C	16: 58,820,582 (GRCm39)	Y178S	probably damaging	Het
Pgam5	A	T	5: 110,413,691 (GRCm39)	V130D	probably damaging	Het
Pop4	A	G	7: 37,965,573 (GRCm39)	C115R	probably damaging	Het
Prpf18	A	T	2: 4,629,348 (GRCm39)		probably null	Het
Psg16	G	A	7: 16,829,031 (GRCm39)	R205H	possibly damaging	Het
Ptgr1	C	A	4: 58,981,879 (GRCm39)	A53S	probably benign	Het
Shank2	A	G	7: 143,965,008 (GRCm39)	D1451G	probably benign	Het
Slfn10-ps	A	G	11: 82,920,345 (GRCm39)		noncoding transcript	Het
Sox8	G	A	17: 25,789,330 (GRCm39)	A56V	probably benign	Het
Ssr3	A	G	3: 65,295,175 (GRCm39)	S113P	probably damaging	Het
Stx16	T	C	2: 173,938,721 (GRCm39)	Y296H	possibly damaging	Het
Tfcp2	A	T	15: 100,426,370 (GRCm39)	N60K	probably benign	Het
Thada	T	C	17: 84,751,654 (GRCm39)	T441A	probably benign	Het
Trf	G	T	9: 103,105,074 (GRCm39)		probably benign	Het
Vamp2	T	A	11: 68,979,488 (GRCm39)		probably benign	Het
Vmn2r105	A	T	17: 20,448,280 (GRCm39)	D181E	probably benign	Het
Vmn2r12	A	T	5: 109,239,544 (GRCm39)	Y340N	probably damaging	Het
Wasf2	C	A	4: 132,923,170 (GRCm39)	D493E	unknown	Het
Wdfy4	T	C	14: 32,769,213 (GRCm39)	D2084G	possibly damaging	Het
Zfp703	T	A	8: 27,468,879 (GRCm39)	V181E	possibly damaging	Het

Other mutations in Zfp229

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00733:Zfp229	APN	17	21,958,483 (GRCm39)	missense	possibly damaging	0.52
R0268:Zfp229	UTSW	17	21,964,822 (GRCm39)	missense	probably benign
R0344:Zfp229	UTSW	17	21,964,822 (GRCm39)	missense	probably benign
R0608:Zfp229	UTSW	17	21,965,615 (GRCm39)	missense	probably damaging	1.00
R1672:Zfp229	UTSW	17	21,964,828 (GRCm39)	missense	probably damaging	1.00
R2215:Zfp229	UTSW	17	21,965,258 (GRCm39)	missense	possibly damaging	0.90
R2519:Zfp229	UTSW	17	21,964,568 (GRCm39)	missense	possibly damaging	0.89
R2937:Zfp229	UTSW	17	21,964,484 (GRCm39)	missense	probably damaging	1.00
R2965:Zfp229	UTSW	17	21,965,010 (GRCm39)	missense	probably damaging	1.00
R3108:Zfp229	UTSW	17	21,965,797 (GRCm39)	missense	probably damaging	1.00
R3768:Zfp229	UTSW	17	21,964,844 (GRCm39)	missense	probably damaging	1.00
R3778:Zfp229	UTSW	17	21,964,183 (GRCm39)	missense	probably benign	0.44
R3850:Zfp229	UTSW	17	21,964,843 (GRCm39)	missense	probably damaging	1.00
R4273:Zfp229	UTSW	17	21,965,802 (GRCm39)	missense	probably benign	0.02
R4731:Zfp229	UTSW	17	21,964,267 (GRCm39)	missense	possibly damaging	0.73
R4732:Zfp229	UTSW	17	21,964,267 (GRCm39)	missense	possibly damaging	0.73
R4733:Zfp229	UTSW	17	21,964,267 (GRCm39)	missense	possibly damaging	0.73
R4818:Zfp229	UTSW	17	21,962,885 (GRCm39)	missense	probably benign	0.33
R5512:Zfp229	UTSW	17	21,964,017 (GRCm39)	splice site	probably null
R7124:Zfp229	UTSW	17	21,961,597 (GRCm39)	missense	probably damaging	0.98
R7511:Zfp229	UTSW	17	21,964,045 (GRCm39)	missense	probably benign	0.00
R7576:Zfp229	UTSW	17	21,964,280 (GRCm39)	missense	probably damaging	1.00
R7840:Zfp229	UTSW	17	21,965,131 (GRCm39)	nonsense	probably null
R8396:Zfp229	UTSW	17	21,965,077 (GRCm39)	missense	probably damaging	1.00
R8427:Zfp229	UTSW	17	21,965,815 (GRCm39)	missense	probably damaging	1.00
R8725:Zfp229	UTSW	17	21,964,828 (GRCm39)	missense	probably damaging	1.00
R8727:Zfp229	UTSW	17	21,964,828 (GRCm39)	missense	probably damaging	1.00
R8770:Zfp229	UTSW	17	21,964,795 (GRCm39)	missense	probably damaging	1.00
R9005:Zfp229	UTSW	17	21,965,731 (GRCm39)	missense	possibly damaging	0.86
R9029:Zfp229	UTSW	17	21,964,321 (GRCm39)	missense	possibly damaging	0.93
R9162:Zfp229	UTSW	17	21,964,495 (GRCm39)	missense	probably damaging	1.00
R9569:Zfp229	UTSW	17	21,964,573 (GRCm39)	missense	possibly damaging	0.78
R9726:Zfp229	UTSW	17	21,965,354 (GRCm39)	missense	probably damaging	1.00
R9760:Zfp229	UTSW	17	21,965,275 (GRCm39)	missense	probably damaging	1.00
Z1177:Zfp229	UTSW	17	21,962,923 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGAACATGCATGCTGGAAAAC -3'
(R):5'- TCCAGCATGAACTTTCTGATGT -3'

Sequencing Primer
(F):5'- GTGCTCATCTCTTAGAGCACATGAG -3'
(R):5'- CTGATGTGTTCTGAGAGACGAC -3'

Posted On

2016-04-15