Mutagenetix > Incidental Mutations

Incidental Mutation 'R4135:Zfp729a'

314867

Institutional Source

Beutler Lab

Gene Symbol

Zfp729a

Ensembl Gene

ENSMUSG00000021510

Gene Name

zinc finger protein 729a

Synonyms

A530054K11Rik

MMRRC Submission

040995-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R4135 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67612763-67637791 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 67619806 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 768 (C768F)

Ref Sequence

ENSEMBL: ENSMUSP00000012314 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000012314] [ENSMUST00000224814] [ENSMUST00000225627]

Predicted Effect

probably damaging
Transcript: ENSMUST00000012314
AA Change: C768F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000012314
Gene: ENSMUSG00000021510
AA Change: C768F

Domain	Start	End	E-Value	Type
KRAB	15	75	6.23e-34	SMART
ZnF_C2H2	91	111	1.91e1	SMART
ZnF_C2H2	147	169	8.34e-3	SMART
PHD	148	209	9.1e0	SMART
ZnF_C2H2	175	197	3.21e-4	SMART
ZnF_C2H2	203	225	6.78e-3	SMART
ZnF_C2H2	231	253	4.47e-3	SMART
PHD	232	293	1.11e1	SMART
RING	233	292	9.27e0	SMART
ZnF_C2H2	259	281	6.67e-2	SMART
ZnF_C2H2	287	309	1.12e-3	SMART
ZnF_C2H2	315	337	3.83e-2	SMART
PHD	316	377	1.35e1	SMART
ZnF_C2H2	343	365	2.57e-3	SMART
ZnF_C2H2	371	393	1.98e-4	SMART
Pfam:zf-C2HC_2	402	422	7.7e-4	PFAM
ZnF_C2H2	427	449	1.67e-2	SMART
ZnF_C2H2	455	477	1.38e-3	SMART
PHD	456	517	5.33e0	SMART
RING	457	516	9.02e0	SMART
ZnF_C2H2	483	505	3.89e-3	SMART
ZnF_C2H2	511	533	7.49e-5	SMART
ZnF_C2H2	539	561	5.5e-3	SMART
PHD	540	601	1.46e1	SMART
ZnF_C2H2	567	589	3.58e-2	SMART
ZnF_C2H2	595	617	8.34e-3	SMART
ZnF_C2H2	651	673	4.11e-2	SMART
PHD	652	713	4.64e0	SMART
RING	653	712	6.37e0	SMART
ZnF_C2H2	679	701	2.4e-3	SMART
ZnF_C2H2	707	729	1.03e-2	SMART
ZnF_C2H2	735	757	1.47e-3	SMART
PHD	736	797	5.44e0	SMART
RING	737	796	5.88e0	SMART
ZnF_C2H2	763	785	6.67e-2	SMART
ZnF_C2H2	791	813	2.36e-2	SMART
ZnF_C2H2	819	841	6.32e-3	SMART
ZnF_C2H2	847	869	1.26e-2	SMART
ZnF_C2H2	875	897	6.78e-3	SMART
PHD	876	937	4.55e0	SMART
ZnF_C2H2	903	925	9.58e-3	SMART
ZnF_C2H2	931	953	9.08e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224548

Predicted Effect

probably benign
Transcript: ENSMUST00000224814

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225511

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225608

Predicted Effect

probably benign
Transcript: ENSMUST00000225627

Meta Mutation Damage Score

0.4985

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	T	A	1: 160,077,522		probably benign	Het
9230110F15Rik	A	G	9: 35,839,428	S33P	possibly damaging	Het
Bak1	T	A	17: 27,021,270	T148S	possibly damaging	Het
Cdc25a	C	A	9: 109,881,517	H157Q	possibly damaging	Het
Chst5	T	C	8: 111,890,184	Y268C	probably damaging	Het
Csnk1g2	T	C	10: 80,638,296	I145T	possibly damaging	Het
Ctsr	T	C	13: 61,161,270	T224A	probably benign	Het
Cux1	T	C	5: 136,307,896	K921E	probably damaging	Het
Dcaf12l1	T	C	X: 44,789,453	N156S	probably damaging	Het
Dennd2d	T	A	3: 106,482,661	D2E	probably benign	Het
Dock2	T	C	11: 34,714,501	K264E	possibly damaging	Het
Eif3c	C	G	7: 126,566,299		probably benign	Het
Gabrb3	G	T	7: 57,591,288	A5S	probably benign	Het
Gcnt2	T	A	13: 40,887,807	N147K	probably damaging	Het
Gm14139	A	T	2: 150,181,868		probably benign	Het
Gm6987	T	A	X: 94,024,610		noncoding transcript	Het
Hbp1	A	T	12: 31,934,422	L262Q	probably damaging	Het
Hsd11b2	T	C	8: 105,523,166	V303A	probably benign	Het
Htr5a	A	G	5: 27,842,692	M82V	probably benign	Het
Mcc	T	C	18: 44,724,640	D136G	probably benign	Het
Mrpl32	C	T	13: 14,612,979	V14M	probably damaging	Het
Msl1	A	G	11: 98,796,300	D157G	possibly damaging	Het
Mthfd1	G	A	12: 76,282,874		probably null	Het
Nkx6-1	T	A	5: 101,659,505	D337V	probably damaging	Het
Nlrp5	T	C	7: 23,418,398	W516R	possibly damaging	Het
Olfr131	A	G	17: 38,082,357	V207A	possibly damaging	Het
Olfr168	T	A	16: 19,530,702	I73F	possibly damaging	Het
Olfr312	C	A	11: 58,831,994	T280K	probably damaging	Het
Olfr705	A	G	7: 106,714,003	L226P	probably damaging	Het
Olfr723	T	C	14: 49,928,815	H243R	probably damaging	Het
Pold3	T	A	7: 100,100,647	R104*	probably null	Het
Rapsn	A	T	2: 91,036,817	N155Y	probably damaging	Het
Rorc	C	A	3: 94,389,519	Q269K	probably damaging	Het
Rreb1	A	T	13: 37,947,123	N1418Y	probably damaging	Het
Rusc2	G	A	4: 43,425,563	D1223N	possibly damaging	Het
Sema6d	T	C	2: 124,664,120	I616T	probably damaging	Het
Ttc6	T	A	12: 57,632,795		probably benign	Het
Ugt3a2	A	T	15: 9,338,724	Y58F	probably damaging	Het
Vmn2r-ps159	T	G	4: 156,338,790		noncoding transcript	Het
Vwa5b1	A	T	4: 138,594,330	M384K	possibly damaging	Het
Washc3	G	A	10: 88,219,280	E111K	probably benign	Het
Xirp2	A	G	2: 67,525,397	S3501G	probably benign	Het
Zfp352	C	T	4: 90,225,024	T467M	probably damaging	Het
Zfp810	T	C	9: 22,279,073	K180E	probably damaging	Het

Other mutations in Zfp729a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00572:Zfp729a	APN	13	67619321	missense	probably benign	0.01
IGL01956:Zfp729a	APN	13	67621686	missense	probably damaging	1.00
IGL02852:Zfp729a	APN	13	67619951	missense	possibly damaging	0.69
IGL03130:Zfp729a	APN	13	67619642	splice site	probably null
adalet	UTSW	13	67619507	missense	probably benign	0.00
R0329:Zfp729a	UTSW	13	67620354	missense	probably damaging	1.00
R0330:Zfp729a	UTSW	13	67620354	missense	probably damaging	1.00
R0383:Zfp729a	UTSW	13	67621673	missense	possibly damaging	0.83
R0545:Zfp729a	UTSW	13	67620226	missense	probably benign	0.09
R1013:Zfp729a	UTSW	13	67619507	missense	probably benign	0.00
R1079:Zfp729a	UTSW	13	67619675	missense	possibly damaging	0.71
R1255:Zfp729a	UTSW	13	67621846	missense	probably benign	0.03
R1525:Zfp729a	UTSW	13	67619321	missense	probably benign	0.01
R1768:Zfp729a	UTSW	13	67619251	missense	probably benign	0.00
R1926:Zfp729a	UTSW	13	67619557	missense	probably benign	0.29
R2043:Zfp729a	UTSW	13	67621172	missense	probably damaging	1.00
R2118:Zfp729a	UTSW	13	67621494	splice site	probably null
R3820:Zfp729a	UTSW	13	67621319	missense	probably damaging	1.00
R3830:Zfp729a	UTSW	13	67619878	missense	probably damaging	1.00
R3926:Zfp729a	UTSW	13	67620191	nonsense	probably null
R4134:Zfp729a	UTSW	13	67619806	missense	probably damaging	1.00
R4670:Zfp729a	UTSW	13	67621415	nonsense	probably null
R4793:Zfp729a	UTSW	13	67620427	missense	probably damaging	1.00
R5009:Zfp729a	UTSW	13	67620246	missense	probably benign	0.01
R5125:Zfp729a	UTSW	13	67637645	critical splice donor site	probably null
R5178:Zfp729a	UTSW	13	67637645	critical splice donor site	probably null
R5438:Zfp729a	UTSW	13	67619586	missense	possibly damaging	0.94
R6540:Zfp729a	UTSW	13	67619648	missense	possibly damaging	0.81
R6731:Zfp729a	UTSW	13	67620146	missense	probably benign	0.09
R6987:Zfp729a	UTSW	13	67619939	nonsense	probably null
R7001:Zfp729a	UTSW	13	67620349	missense	probably benign	0.31
R7626:Zfp729a	UTSW	13	67620318	nonsense	probably null
R7706:Zfp729a	UTSW	13	67623493	missense	possibly damaging	0.72
R7855:Zfp729a	UTSW	13	67619948	missense	possibly damaging	0.94
R7864:Zfp729a	UTSW	13	67621450	missense	probably benign	0.34
R7916:Zfp729a	UTSW	13	67620175	missense	probably benign	0.20
R8061:Zfp729a	UTSW	13	67620089	missense	probably benign
R8187:Zfp729a	UTSW	13	67621799	nonsense	probably null
R8191:Zfp729a	UTSW	13	67621719	missense	probably benign	0.01
R8275:Zfp729a	UTSW	13	67620104	missense	probably benign	0.08
R8469:Zfp729a	UTSW	13	67621362	missense	probably damaging	1.00
X0010:Zfp729a	UTSW	13	67621782	missense	probably damaging	0.98
Z1177:Zfp729a	UTSW	13	67620231	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GCTTGGAAAGTCGTGAGGGA -3'
(R):5'- TGTGGCAAGGACTTCCATGT -3'

Sequencing Primer
(F):5'- TGCCACATAAGTCACACTTGTAGGG -3'
(R):5'- GTGGCAAGGACTTCCATGTTTCATC -3'

Posted On

2015-05-14