Mutagenetix > Incidental Mutation

Incidental Mutation 'R0545:Zfp729a'

44779

Institutional Source

Beutler Lab

Gene Symbol

Zfp729a

Ensembl Gene

ENSMUSG00000021510

Gene Name

zinc finger protein 729a

Synonyms

A530054K11Rik

MMRRC Submission

038737-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R0545 (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 67620226 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 628 (C628F)

Ref Sequence

ENSEMBL: ENSMUSP00000012314 (fasta)

Gene Model

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

AlphaFold

Q4QQP3

Predicted Effect

probably benign
Transcript: ENSMUST00000012314
AA Change: C628F

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000012314
Gene: ENSMUSG00000021510
AA Change: C628F

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

0.1448

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.9%
20x: 94.0%

Validation Efficiency

99% (66/67)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	C	T	2: 19,542,376	R76H	probably damaging	Het
4932438A13Rik	G	A	3: 36,987,690		probably benign	Het
Adnp2	T	C	18: 80,129,401	I598V	probably benign	Het
Ago3	T	C	4: 126,417,232	N63D	probably damaging	Het
Alkbh7	C	T	17: 56,999,012	R138*	probably null	Het
Atp6ap1l	T	C	13: 90,883,663	H300R	probably benign	Het
BC051076	C	T	5: 87,963,490		noncoding transcript	Het
Bpifb9a	T	A	2: 154,261,950	C104*	probably null	Het
Cacna2d2	T	C	9: 107,525,223	L826P	probably damaging	Het
Car5b	G	A	X: 163,979,301	R282C	probably damaging	Het
Ccdc88c	T	C	12: 100,947,188	D526G	probably damaging	Het
Cdh23	T	A	10: 60,331,291	T1861S	probably benign	Het
Ces2f	A	C	8: 104,950,036	M121L	possibly damaging	Het
Cfap58	G	A	19: 47,941,097		probably benign	Het
Chpf2	T	C	5: 24,590,324	S282P	possibly damaging	Het
Cluap1	C	T	16: 3,933,772	R332W	probably damaging	Het
Cma2	A	T	14: 55,973,113	M86L	probably benign	Het
Cog6	A	T	3: 52,996,075	M134K	probably damaging	Het
Col1a1	A	G	11: 94,951,594	D1446G	unknown	Het
Cpne8	T	A	15: 90,497,075	D512V	probably damaging	Het
Ctnna2	T	A	6: 77,605,182	N352I	probably damaging	Het
Cyp2c69	A	C	19: 39,886,661	L16R	probably damaging	Het
Dysf	T	C	6: 84,099,461	S603P	probably damaging	Het
Epha5	A	G	5: 84,067,358		probably null	Het
Ercc3	T	C	18: 32,245,902	S270P	probably damaging	Het
F10	T	A	8: 13,048,249	C151S	probably damaging	Het
Gpr180	T	G	14: 118,160,046	H317Q	possibly damaging	Het
Gstp2	T	C	19: 4,041,633	E32G	possibly damaging	Het
Ikzf5	T	C	7: 131,392,500	T133A	possibly damaging	Het
Itch	G	T	2: 155,182,298	G274*	probably null	Het
Jarid2	T	A	13: 44,902,831	N365K	probably benign	Het
Lama3	T	A	18: 12,561,701	S1295T	possibly damaging	Het
Lipc	A	G	9: 70,812,705	L255P	probably damaging	Het
Lrrc38	A	G	4: 143,350,758	D197G	probably benign	Het
Mfap2	A	G	4: 141,014,185		probably benign	Het
Mfhas1	A	G	8: 35,589,048	K226E	probably damaging	Het
Morc1	A	G	16: 48,565,657	R548G	probably benign	Het
Mrgprb5	T	C	7: 48,168,885	N34S	probably benign	Het
Mroh4	T	C	15: 74,625,427	T182A	probably benign	Het
Mylk	G	C	16: 34,879,475	E403Q	possibly damaging	Het
Myo5a	T	C	9: 75,167,037	F743L	possibly damaging	Het
Notch4	A	C	17: 34,583,433	D1276A	probably damaging	Het
Olfr139	A	G	11: 74,045,047	C76R	possibly damaging	Het
Olfr215	T	A	6: 116,582,656	I97L	probably benign	Het
Olfr394	A	T	11: 73,888,017	Y118*	probably null	Het
Olfr799	T	A	10: 129,647,349	C74S	probably damaging	Het
Plin4	T	A	17: 56,106,567	T353S	probably damaging	Het
Ppp1r9a	A	G	6: 5,115,357	T827A	probably benign	Het
Prlr	C	T	15: 10,317,566	T40I	probably damaging	Het
Psme3	T	C	11: 101,319,904		probably benign	Het
Pygb	A	T	2: 150,815,706	D363V	probably benign	Het
Rsph6a	C	T	7: 19,054,946	Q68*	probably null	Het
Serpini2	A	G	3: 75,258,138	V178A	probably benign	Het
Sh2d2a	T	C	3: 87,851,888		probably benign	Het
Skint7	A	C	4: 111,980,198	M58L	probably benign	Het
Slco3a1	G	T	7: 74,320,553	Y435*	probably null	Het
Stk17b	T	C	1: 53,762,583		probably benign	Het
Tinag	T	A	9: 77,031,710	H162L	possibly damaging	Het
Ttc21a	T	A	9: 119,958,799	L811Q	probably damaging	Het
Ttc41	A	T	10: 86,759,097	M912L	probably benign	Het
Vmn2r98	G	T	17: 19,053,613	V41F	probably benign	Het
Washc5	C	T	15: 59,342,093	C838Y	possibly damaging	Het
Wrnip1	A	G	13: 32,806,813	T352A	probably damaging	Het
Zan	A	C	5: 137,396,177	C4467G	unknown	Het
Zc3h7a	T	C	16: 11,152,333		probably benign	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
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
R4135: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
R8733:Zfp729a	UTSW	13	67620985	missense	probably damaging	0.96
R8911:Zfp729a	UTSW	13	67619942	missense	probably benign	0.25
R9211:Zfp729a	UTSW	13	67619701	missense	probably benign	0.05
R9355:Zfp729a	UTSW	13	67619396	missense	probably damaging	1.00
R9505:Zfp729a	UTSW	13	67619554	missense	probably damaging	0.97
R9786:Zfp729a	UTSW	13	67620509	missense	possibly damaging	0.83
X0010:Zfp729a	UTSW	13	67621782	missense	probably damaging	0.98
Z1177:Zfp729a	UTSW	13	67620231	missense	probably damaging	0.97

Predicted Primers

Posted On

2013-06-11