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: 0.060) question?

Stock #

R0545 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67760882-67785910 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 67768345 bp (GRCm39)

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: 19,547,187 (GRCm39)	R76H	probably damaging	Het
Adnp2	T	C	18: 80,172,616 (GRCm39)	I598V	probably benign	Het
Ago3	T	C	4: 126,311,025 (GRCm39)	N63D	probably damaging	Het
Alkbh7	C	T	17: 57,306,012 (GRCm39)	R138*	probably null	Het
Atp6ap1l	T	C	13: 91,031,782 (GRCm39)	H300R	probably benign	Het
BC051076	C	T	5: 88,111,349 (GRCm39)		noncoding transcript	Het
Bltp1	G	A	3: 37,041,839 (GRCm39)		probably benign	Het
Bpifb9a	T	A	2: 154,103,870 (GRCm39)	C104*	probably null	Het
Cacna2d2	T	C	9: 107,402,422 (GRCm39)	L826P	probably damaging	Het
Car5b	G	A	X: 162,762,297 (GRCm39)	R282C	probably damaging	Het
Ccdc88c	T	C	12: 100,913,447 (GRCm39)	D526G	probably damaging	Het
Cdh23	T	A	10: 60,167,070 (GRCm39)	T1861S	probably benign	Het
Ces2f	A	C	8: 105,676,668 (GRCm39)	M121L	possibly damaging	Het
Cfap58	G	A	19: 47,929,536 (GRCm39)		probably benign	Het
Chpf2	T	C	5: 24,795,322 (GRCm39)	S282P	possibly damaging	Het
Cluap1	C	T	16: 3,751,636 (GRCm39)	R332W	probably damaging	Het
Cma2	A	T	14: 56,210,570 (GRCm39)	M86L	probably benign	Het
Cog6	A	T	3: 52,903,496 (GRCm39)	M134K	probably damaging	Het
Col1a1	A	G	11: 94,842,420 (GRCm39)	D1446G	unknown	Het
Cpne8	T	A	15: 90,381,278 (GRCm39)	D512V	probably damaging	Het
Ctnna2	T	A	6: 77,582,165 (GRCm39)	N352I	probably damaging	Het
Cyp2c69	A	C	19: 39,875,105 (GRCm39)	L16R	probably damaging	Het
Dysf	T	C	6: 84,076,443 (GRCm39)	S603P	probably damaging	Het
Epha5	A	G	5: 84,215,217 (GRCm39)		probably null	Het
Ercc3	T	C	18: 32,378,955 (GRCm39)	S270P	probably damaging	Het
F10	T	A	8: 13,098,249 (GRCm39)	C151S	probably damaging	Het
Gpr180	T	G	14: 118,397,458 (GRCm39)	H317Q	possibly damaging	Het
Gstp2	T	C	19: 4,091,633 (GRCm39)	E32G	possibly damaging	Het
Ikzf5	T	C	7: 130,994,229 (GRCm39)	T133A	possibly damaging	Het
Itch	G	T	2: 155,024,218 (GRCm39)	G274*	probably null	Het
Jarid2	T	A	13: 45,056,307 (GRCm39)	N365K	probably benign	Het
Lama3	T	A	18: 12,694,758 (GRCm39)	S1295T	possibly damaging	Het
Lipc	A	G	9: 70,719,987 (GRCm39)	L255P	probably damaging	Het
Lrrc38	A	G	4: 143,077,328 (GRCm39)	D197G	probably benign	Het
Mfap2	A	G	4: 140,741,496 (GRCm39)		probably benign	Het
Mfhas1	A	G	8: 36,056,202 (GRCm39)	K226E	probably damaging	Het
Morc1	A	G	16: 48,386,020 (GRCm39)	R548G	probably benign	Het
Mrgprb5	T	C	7: 47,818,633 (GRCm39)	N34S	probably benign	Het
Mroh4	T	C	15: 74,497,276 (GRCm39)	T182A	probably benign	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Myo5a	T	C	9: 75,074,319 (GRCm39)	F743L	possibly damaging	Het
Notch4	A	C	17: 34,802,407 (GRCm39)	D1276A	probably damaging	Het
Or1e34	A	T	11: 73,778,843 (GRCm39)	Y118*	probably null	Het
Or3a10	A	G	11: 73,935,873 (GRCm39)	C76R	possibly damaging	Het
Or6c209	T	A	10: 129,483,218 (GRCm39)	C74S	probably damaging	Het
Or6d15	T	A	6: 116,559,617 (GRCm39)	I97L	probably benign	Het
Plin4	T	A	17: 56,413,567 (GRCm39)	T353S	probably damaging	Het
Ppp1r9a	A	G	6: 5,115,357 (GRCm39)	T827A	probably benign	Het
Prlr	C	T	15: 10,317,652 (GRCm39)	T40I	probably damaging	Het
Psme3	T	C	11: 101,210,730 (GRCm39)		probably benign	Het
Pygb	A	T	2: 150,657,626 (GRCm39)	D363V	probably benign	Het
Rsph6a	C	T	7: 18,788,871 (GRCm39)	Q68*	probably null	Het
Serpini2	A	G	3: 75,165,445 (GRCm39)	V178A	probably benign	Het
Sh2d2a	T	C	3: 87,759,195 (GRCm39)		probably benign	Het
Skint7	A	C	4: 111,837,395 (GRCm39)	M58L	probably benign	Het
Slco3a1	G	T	7: 73,970,301 (GRCm39)	Y435*	probably null	Het
Stk17b	T	C	1: 53,801,742 (GRCm39)		probably benign	Het
Tinag	T	A	9: 76,938,992 (GRCm39)	H162L	possibly damaging	Het
Ttc21a	T	A	9: 119,787,865 (GRCm39)	L811Q	probably damaging	Het
Ttc41	A	T	10: 86,594,961 (GRCm39)	M912L	probably benign	Het
Vmn2r98	G	T	17: 19,273,875 (GRCm39)	V41F	probably benign	Het
Washc5	C	T	15: 59,213,942 (GRCm39)	C838Y	possibly damaging	Het
Wrnip1	A	G	13: 32,990,796 (GRCm39)	T352A	probably damaging	Het
Zan	A	C	5: 137,394,439 (GRCm39)	C4467G	unknown	Het
Zc3h7a	T	C	16: 10,970,197 (GRCm39)		probably benign	Het

Other mutations in Zfp729a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00572:Zfp729a	APN	13	67,767,440 (GRCm39)	missense	probably benign	0.01
IGL01956:Zfp729a	APN	13	67,769,805 (GRCm39)	missense	probably damaging	1.00
IGL02852:Zfp729a	APN	13	67,768,070 (GRCm39)	missense	possibly damaging	0.69
IGL03130:Zfp729a	APN	13	67,767,761 (GRCm39)	splice site	probably null
adalet	UTSW	13	67,767,626 (GRCm39)	missense	probably benign	0.00
R0329:Zfp729a	UTSW	13	67,768,473 (GRCm39)	missense	probably damaging	1.00
R0330:Zfp729a	UTSW	13	67,768,473 (GRCm39)	missense	probably damaging	1.00
R0383:Zfp729a	UTSW	13	67,769,792 (GRCm39)	missense	possibly damaging	0.83
R1013:Zfp729a	UTSW	13	67,767,626 (GRCm39)	missense	probably benign	0.00
R1079:Zfp729a	UTSW	13	67,767,794 (GRCm39)	missense	possibly damaging	0.71
R1255:Zfp729a	UTSW	13	67,769,965 (GRCm39)	missense	probably benign	0.03
R1525:Zfp729a	UTSW	13	67,767,440 (GRCm39)	missense	probably benign	0.01
R1768:Zfp729a	UTSW	13	67,767,370 (GRCm39)	missense	probably benign	0.00
R1926:Zfp729a	UTSW	13	67,767,676 (GRCm39)	missense	probably benign	0.29
R2043:Zfp729a	UTSW	13	67,769,291 (GRCm39)	missense	probably damaging	1.00
R2118:Zfp729a	UTSW	13	67,769,613 (GRCm39)	splice site	probably null
R3820:Zfp729a	UTSW	13	67,769,438 (GRCm39)	missense	probably damaging	1.00
R3830:Zfp729a	UTSW	13	67,767,997 (GRCm39)	missense	probably damaging	1.00
R3926:Zfp729a	UTSW	13	67,768,310 (GRCm39)	nonsense	probably null
R4134:Zfp729a	UTSW	13	67,767,925 (GRCm39)	missense	probably damaging	1.00
R4135:Zfp729a	UTSW	13	67,767,925 (GRCm39)	missense	probably damaging	1.00
R4670:Zfp729a	UTSW	13	67,769,534 (GRCm39)	nonsense	probably null
R4793:Zfp729a	UTSW	13	67,768,546 (GRCm39)	missense	probably damaging	1.00
R5009:Zfp729a	UTSW	13	67,768,365 (GRCm39)	missense	probably benign	0.01
R5125:Zfp729a	UTSW	13	67,785,764 (GRCm39)	critical splice donor site	probably null
R5178:Zfp729a	UTSW	13	67,785,764 (GRCm39)	critical splice donor site	probably null
R5438:Zfp729a	UTSW	13	67,767,705 (GRCm39)	missense	possibly damaging	0.94
R6540:Zfp729a	UTSW	13	67,767,767 (GRCm39)	missense	possibly damaging	0.81
R6731:Zfp729a	UTSW	13	67,768,265 (GRCm39)	missense	probably benign	0.09
R6987:Zfp729a	UTSW	13	67,768,058 (GRCm39)	nonsense	probably null
R7001:Zfp729a	UTSW	13	67,768,468 (GRCm39)	missense	probably benign	0.31
R7626:Zfp729a	UTSW	13	67,768,437 (GRCm39)	nonsense	probably null
R7706:Zfp729a	UTSW	13	67,771,612 (GRCm39)	missense	possibly damaging	0.72
R7855:Zfp729a	UTSW	13	67,768,067 (GRCm39)	missense	possibly damaging	0.94
R7864:Zfp729a	UTSW	13	67,769,569 (GRCm39)	missense	probably benign	0.34
R7916:Zfp729a	UTSW	13	67,768,294 (GRCm39)	missense	probably benign	0.20
R8061:Zfp729a	UTSW	13	67,768,208 (GRCm39)	missense	probably benign
R8187:Zfp729a	UTSW	13	67,769,918 (GRCm39)	nonsense	probably null
R8191:Zfp729a	UTSW	13	67,769,838 (GRCm39)	missense	probably benign	0.01
R8275:Zfp729a	UTSW	13	67,768,223 (GRCm39)	missense	probably benign	0.08
R8469:Zfp729a	UTSW	13	67,769,481 (GRCm39)	missense	probably damaging	1.00
R8733:Zfp729a	UTSW	13	67,769,104 (GRCm39)	missense	probably damaging	0.96
R8911:Zfp729a	UTSW	13	67,768,061 (GRCm39)	missense	probably benign	0.25
R9211:Zfp729a	UTSW	13	67,767,820 (GRCm39)	missense	probably benign	0.05
R9355:Zfp729a	UTSW	13	67,767,515 (GRCm39)	missense	probably damaging	1.00
R9505:Zfp729a	UTSW	13	67,767,673 (GRCm39)	missense	probably damaging	0.97
R9786:Zfp729a	UTSW	13	67,768,628 (GRCm39)	missense	possibly damaging	0.83
X0010:Zfp729a	UTSW	13	67,769,901 (GRCm39)	missense	probably damaging	0.98
Z1177:Zfp729a	UTSW	13	67,768,350 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

Posted On

2013-06-11