Mutagenetix > Incidental Mutation

Incidental Mutation 'R4670:Zfp729a'

348379

Institutional Source

Beutler Lab

Gene Symbol

Zfp729a

Ensembl Gene

ENSMUSG00000021510

Gene Name

zinc finger protein 729a

Synonyms

A530054K11Rik

MMRRC Submission

041926-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R4670 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67760882-67785910 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 67769534 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 232 (K232*)

Ref Sequence

ENSEMBL: ENSMUSP00000012314 (fasta)

Gene Model

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

AlphaFold

Q4QQP3

Predicted Effect

probably null
Transcript: ENSMUST00000012314
AA Change: K232*

SMART Domains

Protein: ENSMUSP00000012314
Gene: ENSMUSG00000021510
AA Change: K232*

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

0.9642

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

97% (69/71)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm5	T	A	7: 119,130,983 (GRCm39)		probably null	Het
Alb	T	A	5: 90,610,665 (GRCm39)	S82T	probably benign	Het
Arf4	A	G	14: 26,374,248 (GRCm39)		probably benign	Het
Arhgap22	T	C	14: 33,084,500 (GRCm39)	C260R	probably damaging	Het
Arhgap32	A	G	9: 32,081,441 (GRCm39)	E153G	probably benign	Het
Arhgef18	T	A	8: 3,484,897 (GRCm39)	M200K	probably damaging	Het
Atp1a4	T	A	1: 172,062,567 (GRCm39)	N647Y	probably benign	Het
Atp5f1c	A	T	2: 10,064,428 (GRCm39)	L226Q	probably damaging	Het
Bcas1	T	C	2: 170,226,245 (GRCm39)	K310R	probably damaging	Het
Cadm3	T	A	1: 173,174,013 (GRCm39)	T67S	probably damaging	Het
Cartpt	C	T	13: 100,036,588 (GRCm39)		probably null	Het
Cenpj	A	T	14: 56,790,840 (GRCm39)	V403E	possibly damaging	Het
Chst7	C	A	X: 19,927,110 (GRCm39)	R386S	probably damaging	Het
Cyp4f37	A	T	17: 32,844,126 (GRCm39)	M77L	probably benign	Het
Dnah7b	A	T	1: 46,117,684 (GRCm39)	D50V	probably damaging	Het
Galnt4	A	G	10: 98,945,160 (GRCm39)	D295G	possibly damaging	Het
Gin1	C	T	1: 97,712,565 (GRCm39)	P154S	probably damaging	Het
Gm6471	G	A	7: 142,385,360 (GRCm39)		noncoding transcript	Het
Gm6818	T	A	7: 38,101,981 (GRCm39)		noncoding transcript	Het
Gm9271	T	A	7: 39,013,734 (GRCm39)		noncoding transcript	Het
Gpam	A	G	19: 55,084,551 (GRCm39)		probably null	Het
Gpr183	T	C	14: 122,192,149 (GRCm39)	D124G	probably damaging	Het
Ift140	C	A	17: 25,317,935 (GRCm39)		probably benign	Het
Itih5	A	C	2: 10,195,180 (GRCm39)	I191L	probably benign	Het
Jcad	A	G	18: 4,674,175 (GRCm39)	T646A	probably benign	Het
Kank1	T	C	19: 25,387,944 (GRCm39)	M511T	probably benign	Het
Krt74	A	T	15: 101,667,304 (GRCm39)		noncoding transcript	Het
Lrrc37a	A	G	11: 103,395,363 (GRCm39)	S21P	probably benign	Het
Lrrc8c	G	A	5: 105,756,240 (GRCm39)	V672I	probably benign	Het
Lypd4	T	C	7: 24,566,151 (GRCm39)	R58G	probably benign	Het
Magi1	A	T	6: 93,663,624 (GRCm39)		probably null	Het
Mefv	T	A	16: 3,526,071 (GRCm39)	L745F	possibly damaging	Het
Myh13	A	T	11: 67,255,564 (GRCm39)	K1645*	probably null	Het
Naip6	A	G	13: 100,431,239 (GRCm39)		probably null	Het
Nlrp1c-ps	T	C	11: 71,171,382 (GRCm39)		noncoding transcript	Het
Nsmce3	A	T	7: 64,522,530 (GRCm39)	L46Q	probably benign	Het
Or51aa2	A	G	7: 103,188,393 (GRCm39)	V16A	possibly damaging	Het
Or6k6	T	A	1: 173,945,427 (GRCm39)	M52L	probably benign	Het
Or8k37	T	C	2: 86,469,512 (GRCm39)	D180G	possibly damaging	Het
P2ry12	T	C	3: 59,125,325 (GRCm39)		probably null	Het
Pcx	T	A	19: 4,669,916 (GRCm39)	V861E	probably damaging	Het
Pkp3	C	T	7: 140,662,612 (GRCm39)	P75S	probably benign	Het
Plscr4	T	C	9: 92,364,920 (GRCm39)		probably null	Het
Pole	A	G	5: 110,454,253 (GRCm39)	T923A	probably benign	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Rhot2	A	C	17: 26,060,305 (GRCm39)		probably benign	Het
Rsrp1	A	G	4: 134,651,488 (GRCm39)	Y84C	unknown	Het
Sbf2	T	C	7: 109,934,606 (GRCm39)	K1348E	probably damaging	Het
Sgip1	A	T	4: 102,726,951 (GRCm39)	N53Y	probably damaging	Het
Snapc2	A	G	8: 4,304,998 (GRCm39)	T127A	possibly damaging	Het
Snx8	A	G	5: 140,341,713 (GRCm39)		probably null	Het
Spag8	A	G	4: 43,653,378 (GRCm39)		probably benign	Het
Srebf2	T	C	15: 82,076,503 (GRCm39)	F718L	probably damaging	Het
Szt2	C	G	4: 118,233,026 (GRCm39)		probably benign	Het
Traf3ip2	C	T	10: 39,515,256 (GRCm39)	P345S	possibly damaging	Het
Tubgcp4	T	A	2: 121,004,146 (GRCm39)	Y62*	probably null	Het
Usp29	T	A	7: 6,965,914 (GRCm39)	S586T	possibly damaging	Het
Vasp	T	C	7: 18,998,350 (GRCm39)	N108S	probably benign	Het
Vmn1r214	A	G	13: 23,219,141 (GRCm39)	M212V	probably benign	Het
Wipi2	G	C	5: 142,645,345 (GRCm39)	A194P	probably benign	Het
Zbtb4	T	A	11: 69,667,355 (GRCm39)	I220N	probably damaging	Het
Zcchc2	A	T	1: 105,917,996 (GRCm39)		probably benign	Het
Zfp995	A	T	17: 22,106,320 (GRCm39)	M1K	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
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

PCR Primer
(F):5'- TGACAGAGAACGAAAAGCCT -3'
(R):5'- GGTCCTTCCATAGTCCATCATTAA -3'

Sequencing Primer
(F):5'- TCTTGAGGGATAATCGAAAGCCTTG -3'
(R):5'- GAGTTCATACAGGAGAGAATCTCTAC -3'

Posted On

2015-10-08