Mutagenetix > Incidental Mutation

Incidental Mutation 'R8191:Zfp729a'

635174

Institutional Source

Beutler Lab

Gene Symbol

Zfp729a

Ensembl Gene

ENSMUSG00000021510

Gene Name

zinc finger protein 729a

Synonyms

A530054K11Rik

MMRRC Submission

067614-MU

Accession Numbers

Essential gene?

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

Stock #

R8191 (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 T at 67769838 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 130 (S130R)

Ref Sequence

ENSEMBL: ENSMUSP00000012314 (fasta)

Gene Model

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

AlphaFold

Q4QQP3

Predicted Effect

probably benign
Transcript: ENSMUST00000012314
AA Change: S130R

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000012314
Gene: ENSMUSG00000021510
AA Change: S130R

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: 99.5%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700037C18Rik	G	A	16: 3,724,918 (GRCm39)	R49W	probably damaging	Het
Adamts4	T	C	1: 171,080,292 (GRCm39)	S282P		Het
Aqp4	A	G	18: 15,531,222 (GRCm39)	S180P	probably benign	Het
Armc2	T	G	10: 41,839,747 (GRCm39)	E406A	probably benign	Het
Atp13a3	A	T	16: 30,168,598 (GRCm39)	Y464N	probably damaging	Het
B3gnt3	C	A	8: 72,146,122 (GRCm39)	V136L	probably benign	Het
Cacna1s	C	T	1: 136,035,893 (GRCm39)	H1378Y	probably damaging	Het
Ccnk	A	T	12: 108,159,933 (GRCm39)	E138D	probably benign	Het
Cenpe	A	G	3: 134,957,375 (GRCm39)	K1878E	probably benign	Het
Cep57l1	T	A	10: 41,616,955 (GRCm39)	I111L	probably damaging	Het
Cfap298	G	T	16: 90,727,889 (GRCm39)	N100K	probably damaging	Het
Copg2	T	C	6: 30,790,665 (GRCm39)	I509V	probably benign	Het
Cux2	T	A	5: 122,012,217 (GRCm39)	D406V	probably benign	Het
Cyp2a12	G	T	7: 26,730,529 (GRCm39)	A165S	probably benign	Het
Dnaaf5	T	G	5: 139,167,250 (GRCm39)	S719A	probably benign	Het
Dnah7c	A	G	1: 46,646,618 (GRCm39)	I1220V	possibly damaging	Het
Dnai3	G	T	3: 145,800,066 (GRCm39)	P158H	probably damaging	Het
Dnajb8	C	T	6: 88,199,940 (GRCm39)	R159C	possibly damaging	Het
Dusp10	T	A	1: 183,769,749 (GRCm39)	D238E	possibly damaging	Het
Dync1li1	C	A	9: 114,538,253 (GRCm39)	D203E	probably benign	Het
Ecpas	A	T	4: 58,872,587 (GRCm39)		probably null	Het
Eif5b	T	C	1: 38,075,283 (GRCm39)	S587P	probably damaging	Het
Ephb2	G	A	4: 136,386,256 (GRCm39)	T832I	probably damaging	Het
Exoc1	T	A	5: 76,707,674 (GRCm39)		probably null	Het
Fam193a	T	A	5: 34,597,917 (GRCm39)	N571K	probably damaging	Het
Fem1a	T	A	17: 56,565,356 (GRCm39)	I483N	probably damaging	Het
Fgf20	C	A	8: 40,761,361 (GRCm39)		probably benign	Het
Fkbp1a	C	T	2: 151,399,356 (GRCm39)	P98S		Het
Gpsm3	A	T	17: 34,809,451 (GRCm39)	D19V	probably benign	Het
Ido2	C	A	8: 25,023,696 (GRCm39)	G381W	probably damaging	Het
Ifi204	T	C	1: 173,579,226 (GRCm39)	T540A	possibly damaging	Het
Isl1	A	T	13: 116,441,954 (GRCm39)	M93K	probably benign	Het
Map3k10	T	A	7: 27,362,671 (GRCm39)	S472C	probably damaging	Het
Mcrs1	A	T	15: 99,141,206 (GRCm39)	V432E	probably damaging	Het
Metap2	A	G	10: 93,701,267 (GRCm39)		probably null	Het
Muc5b	A	G	7: 141,421,421 (GRCm39)	S4304G	probably benign	Het
Myef2l	G	T	3: 10,153,914 (GRCm39)	V228F	probably damaging	Het
Nell1	T	C	7: 50,098,622 (GRCm39)	V308A	unknown	Het
Or10g1b	A	G	14: 52,627,987 (GRCm39)	V81A	probably benign	Het
Or4d5	A	T	9: 40,012,767 (GRCm39)	H6Q	probably benign	Het
Plxna4	C	A	6: 32,493,885 (GRCm39)	V244F	possibly damaging	Het
Pnpla6	T	C	8: 3,592,382 (GRCm39)	S1224P	probably benign	Het
Ripk4	A	G	16: 97,564,726 (GRCm39)		probably benign	Het
Rnpep	T	C	1: 135,200,172 (GRCm39)	E261G	possibly damaging	Het
Robo1	C	A	16: 72,730,142 (GRCm39)	S194R	probably damaging	Het
Rpusd1	C	G	17: 25,947,611 (GRCm39)	Y99*	probably null	Het
Scarf1	T	C	11: 75,413,065 (GRCm39)	M437T	probably benign	Het
Sh3tc2	G	T	18: 62,106,429 (GRCm39)	D153Y	probably damaging	Het
Siglec1	T	C	2: 130,927,599 (GRCm39)	Y69C	probably damaging	Het
Slc25a34	T	C	4: 141,347,895 (GRCm39)	Y262C	probably damaging	Het
Srrm2	T	A	17: 24,039,219 (GRCm39)	N1954K	probably damaging	Het
St6galnac2	T	C	11: 116,572,748 (GRCm39)	Y236C	probably damaging	Het
Stac3	T	A	10: 127,344,068 (GRCm39)	I322N	probably damaging	Het
Tcaf1	T	C	6: 42,652,190 (GRCm39)	Q764R	probably damaging	Het
Tcf20	G	A	15: 82,737,606 (GRCm39)	R1282*	probably null	Het
Tlr2	T	A	3: 83,743,821 (GRCm39)	K754M	probably damaging	Het
Tlr2	T	G	3: 83,743,822 (GRCm39)	K754Q	probably damaging	Het
Tnn	C	T	1: 159,953,088 (GRCm39)	V651M	probably damaging	Het
Ttn	T	C	2: 76,701,083 (GRCm39)	H9622R	unknown	Het
Tubgcp6	C	T	15: 89,004,843 (GRCm39)	G259S	probably damaging	Het
Ubr5	C	A	15: 38,006,751 (GRCm39)	C1174F		Het
Ugt2b35	T	A	5: 87,149,302 (GRCm39)	S184R	probably damaging	Het
Vit	C	T	17: 78,853,828 (GRCm39)	H25Y	probably benign	Het
Vmn1r177	G	A	7: 23,565,736 (GRCm39)	Q47*	probably null	Het
Vmn2r104	A	T	17: 20,250,465 (GRCm39)	V602D	possibly damaging	Het
Vmn2r115	A	G	17: 23,578,530 (GRCm39)	T668A	probably damaging	Het
Vmn2r125	T	G	4: 156,703,709 (GRCm39)	C362W	probably damaging	Het
Vwa7	A	G	17: 35,238,712 (GRCm39)	T267A	probably damaging	Het
Xpa	C	A	4: 46,183,225 (GRCm39)	R188L	possibly damaging	Het
Zfp143	C	T	7: 109,676,364 (GRCm39)	T249I	probably damaging	Het
Zfp607a	A	G	7: 27,578,868 (GRCm39)	E646G	possibly damaging	Het
Zswim3	C	A	2: 164,662,128 (GRCm39)	Q203K	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
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'- CGGAATTTTGCTCTACCTTCACTA -3'

Sequencing Primer
(F):5'- GGAAGGCTTTGTCACATATTTCAC -3'
(R):5'- AATTTCTCAATCATTCCTCACCAGG -3'

Posted On

2020-07-13