Mutagenetix > Incidental Mutation

Incidental Mutation 'R8187:Zfp729a'

634935

Institutional Source

Beutler Lab

Gene Symbol

Zfp729a

Ensembl Gene

ENSMUSG00000021510

Gene Name

zinc finger protein 729a

Synonyms

A530054K11Rik

MMRRC Submission

067610-MU

Accession Numbers

Essential gene?

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

Stock #

R8187 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67760882-67785910 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 67769918 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 104 (K104*)

Ref Sequence

ENSEMBL: ENSMUSP00000012314 (fasta)

Gene Model

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

AlphaFold

Q4QQP3

Predicted Effect

probably null
Transcript: ENSMUST00000012314
AA Change: K104*

SMART Domains

Protein: ENSMUSP00000012314
Gene: ENSMUSG00000021510
AA Change: K104*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	A	T	1: 120,115,913 (GRCm39)	*122L	probably null	Het
4930438A08Rik	A	G	11: 58,180,548 (GRCm39)	S200G		Het
Adgre1	T	A	17: 57,727,349 (GRCm39)	S426R	probably benign	Het
Adgrg1	A	G	8: 95,732,446 (GRCm39)	E229G	probably benign	Het
Arhgap45	G	A	10: 79,863,706 (GRCm39)	A819T	probably damaging	Het
Arhgef39	A	T	4: 43,498,999 (GRCm39)	L84Q	probably damaging	Het
Bpifb9a	A	G	2: 154,111,377 (GRCm39)	I544V	probably benign	Het
Brwd1	A	T	16: 95,803,934 (GRCm39)	L2079I	probably damaging	Het
Ccnh	T	A	13: 85,337,656 (GRCm39)	M1K	probably null	Het
Cdh16	T	C	8: 105,344,870 (GRCm39)	N415S	probably damaging	Het
Chuk	T	C	19: 44,079,551 (GRCm39)	N317D	probably benign	Het
Cnot10	A	T	9: 114,426,556 (GRCm39)	C665*	probably null	Het
Csmd1	G	T	8: 16,177,188 (GRCm39)	H1358Q	probably damaging	Het
Cyp4f37	T	C	17: 32,854,171 (GRCm39)	V540A	probably benign	Het
Daam1	A	G	12: 71,942,602 (GRCm39)	D22G	unknown	Het
Dhdds	A	G	4: 133,727,679 (GRCm39)		probably benign	Het
Dnah5	T	C	15: 28,384,355 (GRCm39)	V3033A	probably damaging	Het
Dync1i2	A	G	2: 71,044,865 (GRCm39)	K25R	probably benign	Het
Efhc1	T	A	1: 21,030,396 (GRCm39)	S110T	probably damaging	Het
Emilin3	T	C	2: 160,750,000 (GRCm39)	N583S	possibly damaging	Het
Eri2	A	G	7: 119,384,767 (GRCm39)	V578A	probably damaging	Het
F2rl2	A	T	13: 95,837,911 (GRCm39)	I319L	probably benign	Het
Gjd3	A	C	11: 102,691,381 (GRCm39)	Y207*	probably null	Het
Gm19965	T	A	1: 116,749,532 (GRCm39)	C404*	probably null	Het
Gm2832	A	T	14: 41,000,915 (GRCm39)	H51L		Het
Gpam	T	C	19: 55,066,269 (GRCm39)	T631A	probably benign	Het
Hdac2	T	C	10: 36,864,132 (GRCm39)	S114P	probably damaging	Het
Hsd3b1	T	A	3: 98,759,933 (GRCm39)	T353S	probably damaging	Het
Idh1	T	C	1: 65,198,700 (GRCm39)	D390G	probably damaging	Het
Il36g	T	G	2: 24,082,617 (GRCm39)	L131V	probably damaging	Het
Irs1	G	T	1: 82,266,021 (GRCm39)	P732T	probably damaging	Het
Kansl1l	T	A	1: 66,840,896 (GRCm39)	I135F	possibly damaging	Het
Mcc	A	G	18: 44,667,327 (GRCm39)	V208A	possibly damaging	Het
Mgrn1	A	G	16: 4,738,229 (GRCm39)	N261S	probably benign	Het
Mybpc2	T	A	7: 44,161,894 (GRCm39)	N519Y	possibly damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nr1h5	G	T	3: 102,861,986 (GRCm39)	H94Q	probably benign	Het
Nsmce4a	A	G	7: 130,144,519 (GRCm39)	V128A	probably benign	Het
Or5w14	T	G	2: 87,541,624 (GRCm39)	S209R	probably benign	Het
Or6y1	TTGTGTG	TTGTG	1: 174,276,838 (GRCm39)		probably null	Het
Osmr	T	A	15: 6,850,485 (GRCm39)	Y707F	probably damaging	Het
Pck1	G	T	2: 172,997,033 (GRCm39)	R225L	probably benign	Het
Prom1	A	T	5: 44,191,708 (GRCm39)	L354Q	probably damaging	Het
Rev3l	C	A	10: 39,682,693 (GRCm39)	Q300K	probably benign	Het
Rin3	T	A	12: 102,292,066 (GRCm39)	C88S	unknown	Het
Slc37a4	T	C	9: 44,311,291 (GRCm39)	V194A	possibly damaging	Het
Smpd4	T	A	16: 17,446,999 (GRCm39)	H242Q	probably damaging	Het
Spen	T	C	4: 141,200,216 (GRCm39)	I2804V	possibly damaging	Het
Srrm4	A	C	5: 116,587,680 (GRCm39)	F359L	unknown	Het
Svs5	A	G	2: 164,079,692 (GRCm39)	Y72H	possibly damaging	Het
Tmem158	T	A	9: 123,088,875 (GRCm39)	T246S	unknown	Het
Ttn	A	G	2: 76,633,735 (GRCm39)	V14038A	probably benign	Het
Ttn	A	G	2: 76,559,790 (GRCm39)	I29537T	probably damaging	Het
Ttn	A	G	2: 76,626,069 (GRCm39)	S14997P	probably damaging	Het
Vmn1r231	A	T	17: 21,110,893 (GRCm39)	D7E	probably benign	Het
Vmn2r14	A	G	5: 109,368,420 (GRCm39)	S191P	probably benign	Het
Zfp599	G	T	9: 22,161,111 (GRCm39)	Y351*	probably null	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
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

PCR Primer
(F):5'- TAATGGAATGCAGAAGGCCTTG -3'
(R):5'- GTGGAAGGTGACATGATTTTCAC -3'

Sequencing Primer
(F):5'- GCCACAAACTTCACATTTGTAAGG -3'
(R):5'- TCTGTGATTTAACTTAGGCTTCATTG -3'

Posted On

2020-07-13