Mutagenetix > Incidental Mutation

Incidental Mutation 'R9355:Zfp729a'

708371

Institutional Source

Beutler Lab

Gene Symbol

Zfp729a

Ensembl Gene

ENSMUSG00000021510

Gene Name

zinc finger protein 729a

Synonyms

A530054K11Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R9355 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67760882-67785910 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67767515 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 905 (C905R)

Ref Sequence

ENSEMBL: ENSMUSP00000012314 (fasta)

Gene Model

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

AlphaFold

Q4QQP3

Predicted Effect

probably damaging
Transcript: ENSMUST00000012314
AA Change: C905R

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

SMART Domains

Protein: ENSMUSP00000012314
Gene: ENSMUSG00000021510
AA Change: C905R

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

probably benign
Transcript: ENSMUST00000224814

Predicted Effect

probably benign
Transcript: ENSMUST00000225627

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano9	A	G	7: 140,681,817 (GRCm39)	V747A	probably benign	Het
Arfgef1	G	A	1: 10,270,000 (GRCm39)	P383L	probably benign	Het
Arhgef4	A	G	1: 34,849,630 (GRCm39)	E407G	probably benign	Het
Astn1	C	T	1: 158,511,721 (GRCm39)	L1188F	probably damaging	Het
Atg2b	G	A	12: 105,636,980 (GRCm39)	P179S	possibly damaging	Het
Bcl9l	G	A	9: 44,419,000 (GRCm39)	R983H	probably benign	Het
Bmp2k	T	A	5: 97,211,366 (GRCm39)	Y511*	probably null	Het
C1galt1	G	T	6: 7,866,474 (GRCm39)	V107F	probably damaging	Het
Car3	T	A	3: 14,928,664 (GRCm39)	N11K		Het
Ccdc170	A	G	10: 4,508,695 (GRCm39)	R640G	probably benign	Het
Cep126	A	G	9: 8,100,038 (GRCm39)	V832A	possibly damaging	Het
Ces1h	C	T	8: 94,101,149 (GRCm39)	V49I		Het
Clasp2	T	A	9: 113,664,309 (GRCm39)	V310D	probably damaging	Het
Comp	C	T	8: 70,828,699 (GRCm39)	T177M	probably benign	Het
Coro1c	T	C	5: 114,003,726 (GRCm39)	S98G	probably damaging	Het
Cpa6	C	T	1: 10,479,520 (GRCm39)	V238I	probably benign	Het
Crebrf	T	C	17: 26,962,094 (GRCm39)	F397S	probably damaging	Het
Dcpp1	C	A	17: 24,099,987 (GRCm39)	Q3K	possibly damaging	Het
Dzip1l	A	G	9: 99,543,144 (GRCm39)	D533G	possibly damaging	Het
Ecpas	A	T	4: 58,844,114 (GRCm39)	S551T	probably benign	Het
Epha5	T	C	5: 84,253,890 (GRCm39)	E524G	probably damaging	Het
Epha7	A	G	4: 28,935,806 (GRCm39)	Y476C	probably damaging	Het
Erich5	G	T	15: 34,471,001 (GRCm39)	V77F	probably damaging	Het
Fat4	A	G	3: 39,036,047 (GRCm39)	Y3233C	probably damaging	Het
Ggt1	T	A	10: 75,421,716 (GRCm39)	V521E	probably benign	Het
Gm5431	A	G	11: 48,785,275 (GRCm39)	Y89H	probably damaging	Het
Gm5624	A	T	14: 44,799,272 (GRCm39)	L95*	probably null	Het
Gphn	A	G	12: 78,538,968 (GRCm39)	T205A	probably damaging	Het
Grik5	C	A	7: 24,767,597 (GRCm39)	A28S	possibly damaging	Het
H2-K2	A	G	17: 34,216,120 (GRCm39)	S300P	probably benign	Het
H2-Oa	T	C	17: 34,313,723 (GRCm39)	L227P	possibly damaging	Het
Hhip	T	C	8: 80,778,233 (GRCm39)	N99S	probably damaging	Het
Hmcn2	A	T	2: 31,328,302 (GRCm39)	M4328L	probably benign	Het
Htt	A	T	5: 35,053,247 (GRCm39)	M2527L	probably benign	Het
Impdh2	A	T	9: 108,442,402 (GRCm39)	H466L	probably benign	Het
Itgae	G	A	11: 73,006,906 (GRCm39)	G384D	probably damaging	Het
Krt90	T	C	15: 101,461,714 (GRCm39)	S496G	unknown	Het
Krtap5-5	A	G	7: 141,783,114 (GRCm39)	S179P	unknown	Het
Lif	C	T	11: 4,219,044 (GRCm39)	R63W	probably damaging	Het
Lrrc10	T	C	10: 116,881,881 (GRCm39)	V185A	probably damaging	Het
Lrrc27	A	C	7: 138,822,648 (GRCm39)	Q513P	probably damaging	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Map2k3	T	C	11: 60,823,055 (GRCm39)	S3P	possibly damaging	Het
Mc2r	T	C	18: 68,541,195 (GRCm39)	T33A	probably benign	Het
Mefv	T	A	16: 3,525,882 (GRCm39)	D795V	probably damaging	Het
Megf6	A	T	4: 154,338,282 (GRCm39)	R451W	probably damaging	Het
Mrpl21	G	A	19: 3,336,937 (GRCm39)	V103M	probably damaging	Het
Mtmr14	GCCGCCGCCTCGGCGGGTTCCACCGCCTCGTCGGGCAGCCCGCCGCCTC	GCCGCCGCCTC	6: 113,214,948 (GRCm39)		probably null	Het
Myom1	T	C	17: 71,384,888 (GRCm39)	S760P	probably damaging	Het
Ndst4	A	G	3: 125,403,246 (GRCm39)	Y451C	probably damaging	Het
Nkain4	T	C	2: 180,577,775 (GRCm39)	N193S	possibly damaging	Het
Opa1	T	A	16: 29,432,807 (GRCm39)	L490H	probably damaging	Het
Opcml	A	C	9: 28,814,650 (GRCm39)	I301L	probably benign	Het
Or10ak16	G	A	4: 118,750,784 (GRCm39)	S168N	probably benign	Het
Or1e33	A	G	11: 73,738,643 (GRCm39)	F103L	probably damaging	Het
Or4p23	A	T	2: 88,576,749 (GRCm39)	I161N	probably damaging	Het
Or52s19	T	C	7: 103,008,125 (GRCm39)	H92R	probably benign	Het
Pabpc1l	T	C	2: 163,884,469 (GRCm39)	L402P	probably benign	Het
Palld	C	T	8: 61,969,691 (GRCm39)	R1211H	unknown	Het
Peak1	G	T	9: 56,167,454 (GRCm39)	A158E	probably damaging	Het
Ppfibp2	C	T	7: 107,322,169 (GRCm39)	P406L	probably benign	Het
Qpctl	T	C	7: 18,875,146 (GRCm39)	H362R	probably damaging	Het
Ripor2	A	G	13: 24,885,694 (GRCm39)	H643R	probably benign	Het
Scn11a	A	T	9: 119,584,160 (GRCm39)	L1485Q	probably damaging	Het
Scn2a	A	T	2: 65,594,433 (GRCm39)	I1761F	probably damaging	Het
Scrn3	A	G	2: 73,166,077 (GRCm39)	D370G	probably benign	Het
Sec24b	A	T	3: 129,787,489 (GRCm39)	F877Y	possibly damaging	Het
Slc35f3	T	C	8: 127,108,967 (GRCm39)	I172T	probably damaging	Het
Smc3	T	C	19: 53,622,544 (GRCm39)		probably null	Het
Smpd3	C	T	8: 106,991,825 (GRCm39)	V243M	probably damaging	Het
Sos1	T	A	17: 80,722,479 (GRCm39)	I856F	possibly damaging	Het
Sp2	A	T	11: 96,852,231 (GRCm39)	L231H	possibly damaging	Het
Syne1	T	C	10: 5,318,255 (GRCm39)	Y457C	probably damaging	Het
Tdpoz6	T	C	3: 93,600,307 (GRCm39)	T21A	possibly damaging	Het
Tekt5	T	C	16: 10,213,268 (GRCm39)	T6A	possibly damaging	Het
Tln2	G	T	9: 67,262,529 (GRCm39)	T574K	possibly damaging	Het
Tmem161a	T	C	8: 70,633,821 (GRCm39)	S313P	probably damaging	Het
Trmt12	G	A	15: 58,744,824 (GRCm39)	C74Y	probably damaging	Het
Trpc6	A	G	9: 8,649,473 (GRCm39)	D561G	probably benign	Het
Ttn	A	G	2: 76,700,769 (GRCm39)	V62A		Het
Tubgcp5	T	C	7: 55,467,177 (GRCm39)		probably null	Het
Unc13a	C	T	8: 72,098,375 (GRCm39)	V1137M	possibly damaging	Het
Zfp735	A	G	11: 73,602,362 (GRCm39)	I435M	probably benign	Het
Zswim4	C	A	8: 84,955,687 (GRCm39)	G271W	probably damaging	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
R0545:Zfp729a	UTSW	13	67,768,345 (GRCm39)	missense	probably benign	0.09
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
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

PCR Primer
(F):5'- AGTCCTTGCCACATGCTTCA -3'
(R):5'- CCTACAAGTGTGAAGTATGTGGGA -3'

Sequencing Primer
(F):5'- ACATGCTTCACGCTAGTAGG -3'
(R):5'- CAAGTGTGAAGTATGTGGGAATGTC -3'

Posted On

2022-04-18