Mutagenetix > Incidental Mutation

Incidental Mutation 'R3108:Zfp229'

263682

Institutional Source

Beutler Lab

Gene Symbol

Zfp229

Ensembl Gene

ENSMUSG00000061544

Gene Name

zinc finger protein 229

Synonyms

MMRRC Submission

040582-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

R3108 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21730795-21769342 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21746816 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 676 (C676S)

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: C676S

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

SMART Domains

Protein: ENSMUSP00000065379
Gene: ENSMUSG00000061544
AA Change: C676S

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: C676S

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

SMART Domains

Protein: ENSMUSP00000138107
Gene: ENSMUSG00000061544
AA Change: C676S

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd2	C	T	7: 79,323,585	S104L	probably benign	Het
Adcy1	A	G	11: 7,169,453	Y1032C	probably damaging	Het
Ap4e1	T	C	2: 127,056,306		probably null	Het
Ccnb1	C	T	13: 100,781,624		probably null	Het
Cfap54	T	C	10: 92,994,683	N1197S	probably benign	Het
Cnot1	A	G	8: 95,735,749	V1691A	probably damaging	Het
Dclk2	G	A	3: 86,920,035	P46S	probably damaging	Het
Dennd4a	A	G	9: 64,912,387	K1760R	probably benign	Het
Drd4	T	A	7: 141,292,282	V82E	possibly damaging	Het
Dtx2	G	A	5: 136,021,816	V323M	probably benign	Het
Espl1	A	G	15: 102,312,989	I944V	probably damaging	Het
Fat1	G	A	8: 45,045,173		probably null	Het
Igkv11-125	T	C	6: 67,913,871	F58L	possibly damaging	Het
Mrgprb1	A	G	7: 48,447,328	S279P	possibly damaging	Het
Muc5b	C	T	7: 141,858,759	T1814M	unknown	Het
Nkpd1	G	A	7: 19,522,978	M227I	probably damaging	Het
Ntrk3	C	T	7: 78,460,515	V324M	probably benign	Het
Nup155	C	A	15: 8,117,306	T210K	probably null	Het
Olfr466	T	C	13: 65,153,061	V279A	possibly damaging	Het
Olfr591	T	A	7: 103,173,086	M184L	probably damaging	Het
Pak4	A	T	7: 28,564,344	Y322*	probably null	Het
Raph1	G	A	1: 60,493,386	A696V	probably benign	Het
Satb1	A	T	17: 51,782,782	Y346N	possibly damaging	Het
Serpina1a	A	T	12: 103,853,841	I382N	probably damaging	Het
Slc34a3	G	T	2: 25,229,245	Q538K	probably benign	Het
Slf1	C	T	13: 77,126,721		probably benign	Het
Ston1	G	T	17: 88,636,155	E330*	probably null	Het
Trhde	C	T	10: 114,592,066	E442K	probably damaging	Het
Unc45a	A	G	7: 80,331,546		probably benign	Het
Zfp169	A	G	13: 48,489,996	S552P	possibly 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
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
R4273:Zfp229	UTSW	17	21746821	missense	probably benign	0.02
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'- GGTAAGGCCTTCTATCAACTATCTC -3'
(R):5'- AGGCCTTCTCAGATTTCCCATG -3'

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

Posted On

2015-02-05