Mutagenetix > Incidental Mutation

Incidental Mutation 'R7855:Zfp729a'

607207

Institutional Source

Beutler Lab

Gene Symbol

Zfp729a

Ensembl Gene

ENSMUSG00000021510

Gene Name

zinc finger protein 729a

Synonyms

A530054K11Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R7855 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67612763-67637791 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 67619948 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 721 (S721T)

Ref Sequence

ENSEMBL: ENSMUSP00000012314 (fasta)

Gene Model

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

AlphaFold

Q4QQP3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000012314
AA Change: S721T

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000012314
Gene: ENSMUSG00000021510
AA Change: S721T

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700081O15Rik	T	A	19: 7,422,256	I456N	probably damaging	Het
Abca6	A	T	11: 110,191,628	V1173D	probably benign	Het
Ace	A	T	11: 105,972,379	M327L	probably benign	Het
Bcl2l2	C	T	14: 54,884,379		probably benign	Het
Bicdl2	C	T	17: 23,666,017	Q231*	probably null	Het
Brms1l	A	T	12: 55,866,053	D277V	possibly damaging	Het
Cd38	C	A	5: 43,901,448	L135M	probably damaging	Het
Col6a3	G	T	1: 90,810,621	P1059T	possibly damaging	Het
Coro1c	A	T	5: 113,848,597	M262K	probably benign	Het
Cpxm2	G	T	7: 132,057,695	P481Q	possibly damaging	Het
Dnah12	G	T	14: 26,829,329	V2543F	probably benign	Het
Dock2	A	C	11: 34,273,698	D1145E	probably damaging	Het
Elf3	G	A	1: 135,254,352	R364W	probably damaging	Het
Eln	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	5: 134,711,081		probably benign	Het
Epha3	A	G	16: 63,773,560	I55T	probably damaging	Het
Fam69c	G	A	18: 84,730,046		probably benign	Het
Gfer	C	A	17: 24,694,285	D198Y	probably damaging	Het
Gm10436	A	T	12: 88,176,083	I450N	probably benign	Het
Gm11568	A	T	11: 99,858,184	T72S	unknown	Het
Gm21994	C	T	2: 150,255,146	R121Q	probably benign	Het
Gm5415	A	C	1: 32,546,033	I265M	probably damaging	Het
Igkv3-1	C	T	6: 70,704,069	A84V	probably benign	Het
Il1rl2	A	C	1: 40,343,119	Y197S	probably damaging	Het
Il2ra	T	C	2: 11,680,336	I161T	possibly damaging	Het
Itgb8	C	T	12: 119,166,772	R667H	probably benign	Het
Kcnh7	G	A	2: 62,837,194	Q334*	probably null	Het
Lctl	A	C	9: 64,133,216	R480S	possibly damaging	Het
Lrba	T	G	3: 86,315,430	I617S	possibly damaging	Het
Marf1	G	T	16: 14,114,201	H1651N	probably benign	Het
Mitf	T	A	6: 97,993,196	Y142N	probably damaging	Het
Olfr569	A	G	7: 102,887,628	V175A	probably benign	Het
Olfr620	T	A	7: 103,611,772	I194F	possibly damaging	Het
Pecam1	A	G	11: 106,671,750	V708A	probably benign	Het
Pinlyp	C	T	7: 24,542,440		probably null	Het
Polh	G	A	17: 46,175,248	R382W	probably damaging	Het
Prdm10	A	G	9: 31,327,474	I221V	probably benign	Het
Pskh1	G	T	8: 105,913,090	R134L	probably benign	Het
Ptpre	A	G	7: 135,651,995	N6D	probably benign	Het
Rasgrp4	C	T	7: 29,150,610	P58L	unknown	Het
Rhbdf2	G	T	11: 116,602,240	C393*	probably null	Het
Rlf	T	C	4: 121,182,691	I174M	possibly damaging	Het
Ryr2	T	A	13: 11,706,623	R2641*	probably null	Het
Simc1	A	G	13: 54,524,832	H331R	probably benign	Het
Skp2	A	G	15: 9,122,241	S256P	probably benign	Het
Smarcd2	T	C	11: 106,267,566	R10G	probably benign	Het
Spef2	A	G	15: 9,687,895	L480P	possibly damaging	Het
Tenm4	A	G	7: 96,873,874	H1541R	probably damaging	Het
Top1	T	A	2: 160,714,088	L489Q	probably damaging	Het
Ttll13	C	T	7: 80,254,097	H258Y	probably damaging	Het
Unc80	A	G	1: 66,483,349	R237G	possibly damaging	Het
Vmn1r55	A	G	7: 5,146,624	F267L	probably benign	Het
Vmn2r96	T	A	17: 18,597,868	M761K	possibly damaging	Het
Vps33a	G	A	5: 123,570,979	H58Y	possibly damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,815,240		probably benign	Het
Zfp467	T	C	6: 48,439,181	Q179R	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
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
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

PCR Primer
(F):5'- CACATATATCACACTTGTGGGGTTTT -3'
(R):5'- GTCAAGTATGTAGCAAGGCCTTC -3'

Sequencing Primer
(F):5'- TGCATAATGGAAGGCCTTGC -3'
(R):5'- ATGTAGCAAGGCCTTCGTTTATC -3'

Posted On

2019-12-20