Mutagenetix > Incidental Mutation

Incidental Mutation 'R5233:Zfp142'

398078

Institutional Source

Beutler Lab

Gene Symbol

Zfp142

Ensembl Gene

ENSMUSG00000026135

Gene Name

zinc finger protein 142

Synonyms

9330177B18Rik

MMRRC Submission

042805-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5233 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74605490-74627308 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74624608 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 72 (N72S)

Ref Sequence

ENSEMBL: ENSMUSP00000027315 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027315] [ENSMUST00000027358] [ENSMUST00000066986] [ENSMUST00000113732] [ENSMUST00000113733] [ENSMUST00000113737] [ENSMUST00000127921] [ENSMUST00000156613]

AlphaFold

G5E869

Predicted Effect

probably damaging
Transcript: ENSMUST00000027315
AA Change: N72S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027315
Gene: ENSMUSG00000026135
AA Change: N72S

Domain	Start	End	E-Value	Type
ZnF_C2H2	103	127	1.16e1	SMART
ZnF_C2H2	164	186	1.26e-2	SMART
ZnF_C2H2	193	218	7.78e-3	SMART
ZnF_C2H2	223	247	2.29e0	SMART
ZnF_C2H2	250	272	9.96e-1	SMART
low complexity region	317	329	N/A	INTRINSIC
ZnF_C2H2	363	385	9.96e-1	SMART
ZnF_C2H2	391	411	1.26e1	SMART
ZnF_C2H2	419	442	1.47e-3	SMART
ZnF_C2H2	453	475	2.75e-3	SMART
ZnF_C2H2	486	511	3.34e-2	SMART
ZnF_C2H2	516	540	4.81e0	SMART
ZnF_C2H2	543	566	7.05e-1	SMART
ZnF_C2H2	572	595	2.17e-1	SMART
ZnF_C2H2	601	623	1.56e-2	SMART
ZnF_C2H2	629	651	8.94e-3	SMART
ZnF_C2H2	657	679	1.38e-3	SMART
ZnF_C2H2	685	707	9.44e-2	SMART
ZnF_C2H2	712	735	1.26e-2	SMART
ZnF_C2H2	744	767	1.31e0	SMART
ZnF_C2H2	773	796	2.63e0	SMART
low complexity region	903	919	N/A	INTRINSIC
low complexity region	953	969	N/A	INTRINSIC
low complexity region	996	1007	N/A	INTRINSIC
ZnF_C2H2	1039	1059	2.01e1	SMART
ZnF_C2H2	1069	1089	1.91e1	SMART
low complexity region	1147	1160	N/A	INTRINSIC
ZnF_C2H2	1187	1207	2.7e2	SMART
low complexity region	1209	1222	N/A	INTRINSIC
ZnF_C2H2	1265	1285	3.56e1	SMART
ZnF_C2H2	1295	1318	4.98e-1	SMART
ZnF_C2H2	1331	1354	2.49e-1	SMART
ZnF_C2H2	1360	1382	1.03e-2	SMART
ZnF_C2H2	1388	1411	5.72e-1	SMART
ZnF_C2H2	1417	1440	6.75e0	SMART
ZnF_C2H2	1446	1469	9.58e-3	SMART
ZnF_C2H2	1488	1511	1.64e-1	SMART
ZnF_C2H2	1514	1536	1.1e-2	SMART
ZnF_C2H2	1540	1563	4.05e-1	SMART
ZnF_C2H2	1580	1602	4.45e0	SMART
ZnF_C2H2	1608	1630	8.81e-2	SMART
ZnF_C2H2	1636	1658	1.18e-2	SMART
ZnF_C2H2	1664	1686	1.2e-3	SMART
ZnF_C2H2	1692	1715	3.89e-3	SMART
ZnF_C2H2	1721	1743	4.54e-4	SMART
ZnF_C2H2	1749	1771	1.18e-2	SMART
ZnF_C2H2	1777	1799	3.52e-1	SMART
low complexity region	1829	1838	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000027358

SMART Domains

Protein: ENSMUSP00000027358
Gene: ENSMUSG00000026172

Domain	Start	End	E-Value	Type
BCS1_N	23	191	1.29e-86	SMART
AAA	222	357	3.23e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000066986
AA Change: N72S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000065149
Gene: ENSMUSG00000026135
AA Change: N72S

Domain	Start	End	E-Value	Type
low complexity region	116	128	N/A	INTRINSIC
ZnF_C2H2	162	184	9.96e-1	SMART
ZnF_C2H2	190	210	1.26e1	SMART
ZnF_C2H2	218	241	1.47e-3	SMART
ZnF_C2H2	252	274	2.75e-3	SMART
ZnF_C2H2	285	310	3.34e-2	SMART
ZnF_C2H2	315	339	4.81e0	SMART
ZnF_C2H2	342	365	7.05e-1	SMART
ZnF_C2H2	371	394	2.17e-1	SMART
ZnF_C2H2	400	422	1.56e-2	SMART
ZnF_C2H2	428	450	8.94e-3	SMART
ZnF_C2H2	456	478	1.38e-3	SMART
ZnF_C2H2	484	506	9.44e-2	SMART
ZnF_C2H2	511	534	1.26e-2	SMART
ZnF_C2H2	543	566	1.31e0	SMART
ZnF_C2H2	572	595	2.63e0	SMART
low complexity region	702	718	N/A	INTRINSIC
low complexity region	752	768	N/A	INTRINSIC
low complexity region	795	806	N/A	INTRINSIC
ZnF_C2H2	838	858	2.01e1	SMART
ZnF_C2H2	868	888	1.91e1	SMART
low complexity region	946	959	N/A	INTRINSIC
ZnF_C2H2	986	1006	2.7e2	SMART
low complexity region	1008	1021	N/A	INTRINSIC
ZnF_C2H2	1064	1084	3.56e1	SMART
ZnF_C2H2	1094	1117	4.98e-1	SMART
ZnF_C2H2	1130	1153	2.49e-1	SMART
ZnF_C2H2	1159	1181	1.03e-2	SMART
ZnF_C2H2	1187	1210	5.72e-1	SMART
ZnF_C2H2	1216	1239	6.75e0	SMART
ZnF_C2H2	1245	1268	9.58e-3	SMART
ZnF_C2H2	1287	1310	1.64e-1	SMART
ZnF_C2H2	1313	1335	1.1e-2	SMART
ZnF_C2H2	1339	1362	4.05e-1	SMART
ZnF_C2H2	1379	1401	4.45e0	SMART
ZnF_C2H2	1407	1429	8.81e-2	SMART
ZnF_C2H2	1435	1457	1.18e-2	SMART
ZnF_C2H2	1463	1485	1.2e-3	SMART
ZnF_C2H2	1491	1514	3.89e-3	SMART
ZnF_C2H2	1520	1542	4.54e-4	SMART
ZnF_C2H2	1548	1570	1.18e-2	SMART
ZnF_C2H2	1576	1598	3.52e-1	SMART
low complexity region	1628	1637	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113732

SMART Domains

Protein: ENSMUSP00000109361
Gene: ENSMUSG00000026172

Domain	Start	End	E-Value	Type
BCS1_N	23	191	1.29e-86	SMART
AAA	222	357	3.23e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113733

SMART Domains

Protein: ENSMUSP00000109362
Gene: ENSMUSG00000026172

Domain	Start	End	E-Value	Type
BCS1_N	23	191	1.29e-86	SMART
AAA	222	357	3.23e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113737
AA Change: N72S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000109366
Gene: ENSMUSG00000026135
AA Change: N72S

Domain	Start	End	E-Value	Type
ZnF_C2H2	93	115	9.81e1	SMART
ZnF_C2H2	120	144	2.29e0	SMART
ZnF_C2H2	147	169	9.96e-1	SMART
low complexity region	214	226	N/A	INTRINSIC
ZnF_C2H2	260	282	9.96e-1	SMART
ZnF_C2H2	288	308	1.26e1	SMART
ZnF_C2H2	316	339	1.47e-3	SMART
ZnF_C2H2	350	372	2.75e-3	SMART
ZnF_C2H2	383	408	3.34e-2	SMART
ZnF_C2H2	413	437	4.81e0	SMART
ZnF_C2H2	440	463	7.05e-1	SMART
ZnF_C2H2	469	492	2.17e-1	SMART
ZnF_C2H2	498	520	1.56e-2	SMART
ZnF_C2H2	526	548	8.94e-3	SMART
ZnF_C2H2	554	576	1.38e-3	SMART
ZnF_C2H2	582	604	9.44e-2	SMART
ZnF_C2H2	609	632	1.26e-2	SMART
ZnF_C2H2	641	664	1.31e0	SMART
ZnF_C2H2	670	693	2.63e0	SMART
low complexity region	800	816	N/A	INTRINSIC
low complexity region	850	866	N/A	INTRINSIC
low complexity region	893	904	N/A	INTRINSIC
ZnF_C2H2	936	956	2.01e1	SMART
ZnF_C2H2	966	986	1.91e1	SMART
low complexity region	1044	1057	N/A	INTRINSIC
ZnF_C2H2	1084	1104	2.7e2	SMART
low complexity region	1106	1119	N/A	INTRINSIC
ZnF_C2H2	1162	1182	3.56e1	SMART
ZnF_C2H2	1192	1215	4.98e-1	SMART
ZnF_C2H2	1228	1251	2.49e-1	SMART
ZnF_C2H2	1257	1279	1.03e-2	SMART
ZnF_C2H2	1285	1308	5.72e-1	SMART
ZnF_C2H2	1314	1337	6.75e0	SMART
ZnF_C2H2	1343	1366	9.58e-3	SMART
ZnF_C2H2	1385	1408	1.64e-1	SMART
ZnF_C2H2	1411	1433	1.1e-2	SMART
ZnF_C2H2	1437	1460	4.05e-1	SMART
ZnF_C2H2	1477	1499	4.45e0	SMART
ZnF_C2H2	1505	1527	8.81e-2	SMART
ZnF_C2H2	1533	1555	1.18e-2	SMART
ZnF_C2H2	1561	1583	1.2e-3	SMART
ZnF_C2H2	1589	1612	3.89e-3	SMART
ZnF_C2H2	1618	1640	4.54e-4	SMART
ZnF_C2H2	1646	1668	1.18e-2	SMART
ZnF_C2H2	1674	1696	3.52e-1	SMART
low complexity region	1726	1735	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000127921
AA Change: N72S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130112

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136865

Predicted Effect

possibly damaging
Transcript: ENSMUST00000156613
AA Change: N72S

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147464

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175414

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147011

Meta Mutation Damage Score

0.0608

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.9%

Validation Efficiency

100% (56/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the Kruppel family of C2H2-type zinc finger proteins. It contains 31 C2H2-type zinc fingers and may be involved in transcriptional regulation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030619P08Rik	T	A	15: 75,301,801 (GRCm39)		noncoding transcript	Het
Aadat	A	G	8: 60,979,656 (GRCm39)	I173V	probably benign	Het
Acsl6	G	A	11: 54,216,432 (GRCm39)	V200I	possibly damaging	Het
Alms1	T	A	6: 85,633,353 (GRCm39)		probably null	Het
Arhgef17	A	T	7: 100,530,576 (GRCm39)	D1403E	possibly damaging	Het
Atp10b	A	G	11: 43,121,387 (GRCm39)	T1017A	probably benign	Het
Capg	C	T	6: 72,532,509 (GRCm39)	R25C	probably damaging	Het
Cd22	A	G	7: 30,576,959 (GRCm39)	I116T	probably damaging	Het
Cep135	AGTCTGCCTTTGG	A	5: 76,739,690 (GRCm39)		probably benign	Het
Ciita	A	T	16: 10,327,265 (GRCm39)	I277F	possibly damaging	Het
Col15a1	T	C	4: 47,296,112 (GRCm39)	V943A	possibly damaging	Het
Coq2	G	A	5: 100,805,698 (GRCm39)	H313Y	possibly damaging	Het
Csn3	C	T	5: 88,077,694 (GRCm39)	P67S	probably benign	Het
Csrnp3	A	G	2: 65,852,684 (GRCm39)	T359A	possibly damaging	Het
Cttnbp2nl	A	G	3: 104,912,357 (GRCm39)	L509P	probably damaging	Het
Dclk3	A	G	9: 111,297,749 (GRCm39)	D431G	probably benign	Het
Dtx3l	A	T	16: 35,753,608 (GRCm39)	C333S	possibly damaging	Het
Ear-ps2	G	A	14: 44,284,517 (GRCm39)		noncoding transcript	Het
Fam171a1	G	C	2: 3,179,390 (GRCm39)	G72A	probably damaging	Het
Fbxw17	T	C	13: 50,586,390 (GRCm39)		probably benign	Het
Fry	A	G	5: 150,393,185 (GRCm39)	D605G	possibly damaging	Het
Fyn	T	C	10: 39,405,936 (GRCm39)	F240S	probably benign	Het
Gcfc2	T	C	6: 81,930,271 (GRCm39)	L646P	probably damaging	Het
Gm5087	C	T	14: 13,158,788 (GRCm38)		noncoding transcript	Het
Got2	T	A	8: 96,602,477 (GRCm39)	N91I	probably benign	Het
Hspa4	C	T	11: 53,177,802 (GRCm39)	V103I	possibly damaging	Het
Itgad	A	G	7: 127,792,600 (GRCm39)		probably null	Het
Krt33a	A	G	11: 99,904,961 (GRCm39)	S182P	probably damaging	Het
Mcph1	T	C	8: 18,721,254 (GRCm39)	I694T	probably damaging	Het
Mmp15	T	C	8: 96,097,696 (GRCm39)	V502A	probably benign	Het
Mov10l1	T	C	15: 88,867,235 (GRCm39)	V23A	probably benign	Het
Myo9a	T	A	9: 59,817,900 (GRCm39)	N2322K	probably damaging	Het
Ndst4	A	G	3: 125,503,766 (GRCm39)	Y11C	probably damaging	Het
Nell1	T	C	7: 49,826,062 (GRCm39)	F199S	probably damaging	Het
Nup210	C	T	6: 91,003,951 (GRCm39)	V646M	probably damaging	Het
Nup98	A	T	7: 101,845,029 (GRCm39)	S13R	unknown	Het
Nxf1	T	C	19: 8,741,293 (GRCm39)	I54T	possibly damaging	Het
Or8b38	A	G	9: 37,973,446 (GRCm39)	T277A	probably damaging	Het
Pcdh10	C	A	3: 45,338,626 (GRCm39)	R928S	probably damaging	Het
Pou3f3	A	G	1: 42,737,438 (GRCm39)	N378S	probably benign	Het
Rfx6	T	A	10: 51,588,187 (GRCm39)	Y109*	probably null	Het
Rorc	T	A	3: 94,304,632 (GRCm39)	V339D	probably benign	Het
Scin	T	A	12: 40,127,558 (GRCm39)	I411F	probably benign	Het
Serpind1	A	G	16: 17,154,758 (GRCm39)	Y195C	probably damaging	Het
Tas2r117	T	C	6: 132,780,585 (GRCm39)	V241A	possibly damaging	Het
Tet3	T	A	6: 83,363,045 (GRCm39)	E709V	probably damaging	Het
Trbc1	T	A	6: 41,515,383 (GRCm39)		probably benign	Het
Vmn1r212	C	A	13: 23,067,304 (GRCm39)	G343V	unknown	Het
Vmn2r42	T	A	7: 8,197,837 (GRCm39)	K261*	probably null	Het
Xrcc5	T	A	1: 72,379,209 (GRCm39)	L438Q	probably damaging	Het
Zfp292	A	T	4: 34,809,755 (GRCm39)	S1096R	probably damaging	Het

Other mutations in Zfp142

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00581:Zfp142	APN	1	74,606,131 (GRCm39)	missense	probably damaging	1.00
IGL00711:Zfp142	APN	1	74,611,593 (GRCm39)	missense	probably damaging	1.00
IGL01391:Zfp142	APN	1	74,618,699 (GRCm39)	missense	probably damaging	1.00
IGL01808:Zfp142	APN	1	74,615,184 (GRCm39)	missense	probably damaging	1.00
IGL02074:Zfp142	APN	1	74,609,022 (GRCm39)	missense	probably damaging	0.97
IGL02134:Zfp142	APN	1	74,609,022 (GRCm39)	missense	probably damaging	0.97
IGL02567:Zfp142	APN	1	74,617,309 (GRCm39)	missense	possibly damaging	0.92
IGL02567:Zfp142	APN	1	74,617,306 (GRCm39)	missense	possibly damaging	0.84
IGL02567:Zfp142	APN	1	74,617,308 (GRCm39)	missense	possibly damaging	0.92
IGL02669:Zfp142	APN	1	74,610,432 (GRCm39)	missense	probably benign	0.18
IGL02694:Zfp142	APN	1	74,609,307 (GRCm39)	missense	probably damaging	0.98
IGL02884:Zfp142	APN	1	74,611,142 (GRCm39)	missense	probably damaging	0.99
IGL03000:Zfp142	APN	1	74,612,777 (GRCm39)	missense	probably benign	0.01
IGL03080:Zfp142	APN	1	74,610,368 (GRCm39)	missense	probably benign	0.18
IGL03238:Zfp142	APN	1	74,615,437 (GRCm39)	missense	probably benign	0.37
IGL03277:Zfp142	APN	1	74,610,193 (GRCm39)	missense	probably damaging	1.00
PIT4402001:Zfp142	UTSW	1	74,618,687 (GRCm39)	missense	probably damaging	1.00
R0124:Zfp142	UTSW	1	74,607,782 (GRCm39)	missense	probably damaging	1.00
R0256:Zfp142	UTSW	1	74,617,317 (GRCm39)	missense	probably benign
R0267:Zfp142	UTSW	1	74,615,223 (GRCm39)	missense	probably benign	0.05
R0306:Zfp142	UTSW	1	74,609,341 (GRCm39)	missense	probably damaging	1.00
R0321:Zfp142	UTSW	1	74,608,873 (GRCm39)	missense	probably damaging	1.00
R0466:Zfp142	UTSW	1	74,624,570 (GRCm39)	missense	possibly damaging	0.95
R0513:Zfp142	UTSW	1	74,610,714 (GRCm39)	missense	probably damaging	1.00
R1084:Zfp142	UTSW	1	74,610,985 (GRCm39)	missense	probably benign
R1534:Zfp142	UTSW	1	74,611,247 (GRCm39)	missense	probably benign	0.00
R1548:Zfp142	UTSW	1	74,609,263 (GRCm39)	missense	probably damaging	1.00
R1623:Zfp142	UTSW	1	74,610,934 (GRCm39)	missense	possibly damaging	0.56
R1628:Zfp142	UTSW	1	74,611,047 (GRCm39)	missense	possibly damaging	0.94
R1710:Zfp142	UTSW	1	74,611,389 (GRCm39)	missense	probably damaging	1.00
R1722:Zfp142	UTSW	1	74,608,935 (GRCm39)	missense	probably damaging	1.00
R1770:Zfp142	UTSW	1	74,618,790 (GRCm39)	missense	probably damaging	0.99
R2042:Zfp142	UTSW	1	74,609,778 (GRCm39)	missense	probably benign	0.10
R2112:Zfp142	UTSW	1	74,612,795 (GRCm39)	missense	probably damaging	1.00
R2249:Zfp142	UTSW	1	74,606,191 (GRCm39)	missense	probably damaging	1.00
R4393:Zfp142	UTSW	1	74,611,219 (GRCm39)	missense	probably benign	0.00
R4700:Zfp142	UTSW	1	74,609,431 (GRCm39)	missense	probably damaging	1.00
R4750:Zfp142	UTSW	1	74,611,617 (GRCm39)	missense	probably damaging	1.00
R4763:Zfp142	UTSW	1	74,615,671 (GRCm39)	missense	probably damaging	1.00
R5208:Zfp142	UTSW	1	74,610,027 (GRCm39)	missense	probably benign	0.18
R5585:Zfp142	UTSW	1	74,617,404 (GRCm39)	nonsense	probably null
R6192:Zfp142	UTSW	1	74,609,667 (GRCm39)	missense	probably damaging	1.00
R6461:Zfp142	UTSW	1	74,606,344 (GRCm39)	missense	probably damaging	1.00
R6482:Zfp142	UTSW	1	74,609,376 (GRCm39)	splice site	probably null
R7320:Zfp142	UTSW	1	74,609,167 (GRCm39)	nonsense	probably null
R7438:Zfp142	UTSW	1	74,624,679 (GRCm39)	missense	probably benign
R7528:Zfp142	UTSW	1	74,610,061 (GRCm39)	missense	probably benign	0.00
R7600:Zfp142	UTSW	1	74,612,827 (GRCm39)	missense	probably damaging	1.00
R8007:Zfp142	UTSW	1	74,610,655 (GRCm39)	missense	probably benign	0.01
R8681:Zfp142	UTSW	1	74,610,747 (GRCm39)	missense	probably damaging	1.00
R8772:Zfp142	UTSW	1	74,610,825 (GRCm39)	missense	possibly damaging	0.87
R9058:Zfp142	UTSW	1	74,608,955 (GRCm39)	nonsense	probably null
R9233:Zfp142	UTSW	1	74,610,288 (GRCm39)	missense	probably benign
R9281:Zfp142	UTSW	1	74,607,731 (GRCm39)	missense	probably damaging	1.00
R9302:Zfp142	UTSW	1	74,606,302 (GRCm39)	missense	probably damaging	0.98
R9454:Zfp142	UTSW	1	74,609,016 (GRCm39)	missense	probably damaging	1.00
R9569:Zfp142	UTSW	1	74,615,386 (GRCm39)	missense	probably damaging	1.00
R9595:Zfp142	UTSW	1	74,611,462 (GRCm39)	missense	probably damaging	1.00
R9680:Zfp142	UTSW	1	74,610,933 (GRCm39)	missense	probably benign	0.16
Z1177:Zfp142	UTSW	1	74,609,325 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGTATGTACCTTGCCAGCC -3'
(R):5'- CTAATGGCACTGGGGAGATG -3'

Sequencing Primer
(F):5'- CCAAATTATAGCATCTCAGGGTG -3'
(R):5'- AGATGGATGGACTGTGCTCTGAAC -3'

Posted On

2016-07-06