Mutagenetix > Incidental Mutation

Incidental Mutation 'R0267:Zfp142'

34969

Institutional Source

Beutler Lab

Gene Symbol

Zfp142

Ensembl Gene

ENSMUSG00000026135

Gene Name

zinc finger protein 142

Synonyms

9330177B18Rik

MMRRC Submission

038493-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0267 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74605490-74627308 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 74615223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 427 (A427V)

Ref Sequence

ENSEMBL: ENSMUSP00000109366 (fasta)

Gene Model

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

AlphaFold

G5E869

Predicted Effect

probably benign
Transcript: ENSMUST00000027315
AA Change: A530V

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000027315
Gene: ENSMUSG00000026135
AA Change: A530V

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: ENSMUST00000066986
AA Change: A329V

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

SMART Domains

Protein: ENSMUSP00000065149
Gene: ENSMUSG00000026135
AA Change: A329V

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: ENSMUST00000113737
AA Change: A427V

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000109366
Gene: ENSMUSG00000026135
AA Change: A427V

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

probably benign
Transcript: ENSMUST00000127921

Predicted Effect

probably benign
Transcript: ENSMUST00000156613

Coding Region Coverage

1x: 98.6%
3x: 97.7%
10x: 96.2%
20x: 94.0%

Validation Efficiency

97% (64/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,046,105 (GRCm39)	F1721S	probably damaging	Het
Adgrb1	G	A	15: 74,401,238 (GRCm39)	R78H	probably damaging	Het
Adgrd1	G	A	5: 129,216,658 (GRCm39)	A342T	probably benign	Het
Adrb1	A	T	19: 56,711,923 (GRCm39)	K374*	probably null	Het
Aldh18a1	C	A	19: 40,562,233 (GRCm39)	V264F	probably benign	Het
Aldh1l2	C	T	10: 83,358,551 (GRCm39)		probably benign	Het
Alox15	T	A	11: 70,236,979 (GRCm39)	H393L	probably damaging	Het
Aox1	A	G	1: 58,378,605 (GRCm39)		probably benign	Het
Appbp2	T	C	11: 85,092,288 (GRCm39)	Y297C	probably damaging	Het
Atxn2l	T	G	7: 126,092,379 (GRCm39)	Q950P	probably damaging	Het
Bicd1	A	T	6: 149,418,540 (GRCm39)	D737V	probably damaging	Het
C9	T	C	15: 6,496,939 (GRCm39)	I212T	probably benign	Het
Ccdc63	A	T	5: 122,255,107 (GRCm39)		probably benign	Het
Chst1	C	A	2: 92,443,951 (GRCm39)	P141Q	probably damaging	Het
Cped1	T	A	6: 22,119,475 (GRCm39)	F311L	probably damaging	Het
D6Wsu163e	T	A	6: 126,923,454 (GRCm39)	H113Q	probably benign	Het
Dcn	A	T	10: 97,342,345 (GRCm39)		probably benign	Het
Dmbx1	C	T	4: 115,775,309 (GRCm39)	A324T	probably benign	Het
Dock10	G	T	1: 80,490,171 (GRCm39)	Q1618K	probably damaging	Het
Dpyd	A	G	3: 118,710,921 (GRCm39)	E443G	probably benign	Het
Espl1	T	C	15: 102,221,452 (GRCm39)	V953A	possibly damaging	Het
Exosc10	T	C	4: 148,647,213 (GRCm39)	L174P	probably damaging	Het
Foxg1	A	G	12: 49,432,365 (GRCm39)	Y366C	probably damaging	Het
Fxyd3	T	C	7: 30,770,159 (GRCm39)		probably benign	Het
Gbp2	T	C	3: 142,335,867 (GRCm39)	V189A	probably benign	Het
Gins4	T	C	8: 23,719,426 (GRCm39)		probably benign	Het
Gm12789	A	G	4: 101,845,319 (GRCm39)	T3A	probably benign	Het
Gnb1l	T	C	16: 18,366,839 (GRCm39)		probably benign	Het
Gtpbp3	T	C	8: 71,944,141 (GRCm39)	L295S	probably damaging	Het
Hrh4	C	A	18: 13,155,455 (GRCm39)	Y331*	probably null	Het
Hsd11b1	A	T	1: 192,923,705 (GRCm39)	Y52N	probably damaging	Het
Jam3	A	G	9: 27,017,701 (GRCm39)	I29T	probably benign	Het
Kctd16	T	A	18: 40,663,930 (GRCm39)	I353N	probably benign	Het
Lama4	G	T	10: 38,904,635 (GRCm39)	G246C	probably damaging	Het
Lhx3	T	A	2: 26,093,040 (GRCm39)	M137L	probably benign	Het
Morc2a	T	C	11: 3,628,567 (GRCm39)	I340T	probably benign	Het
Myo7a	A	C	7: 97,703,831 (GRCm39)	I1969S	probably benign	Het
Or14a258	T	C	7: 86,035,475 (GRCm39)	E131G	possibly damaging	Het
Or5b116	T	A	19: 13,422,792 (GRCm39)	C139S	probably damaging	Het
Or6n1	A	G	1: 173,916,732 (GRCm39)	N42S	probably damaging	Het
Pclo	T	C	5: 14,731,194 (GRCm39)	L3232P	unknown	Het
Polr1a	T	G	6: 71,951,123 (GRCm39)	I1407M	probably damaging	Het
Ppip5k2	A	G	1: 97,656,722 (GRCm39)	V817A	probably damaging	Het
Rbfox3	T	C	11: 118,386,066 (GRCm39)	T280A	probably benign	Het
Rfx3	T	C	19: 27,771,188 (GRCm39)	D521G	probably benign	Het
Scn5a	C	T	9: 119,372,201 (GRCm39)	V223I	probably damaging	Het
Sgsm3	T	G	15: 80,890,803 (GRCm39)	M119R	probably damaging	Het
Slc6a7	T	A	18: 61,129,783 (GRCm39)	M608L	probably benign	Het
Slit2	A	G	5: 48,339,673 (GRCm39)		probably benign	Het
Steap2	T	A	5: 5,723,561 (GRCm39)	I440F	probably benign	Het
Syn2	T	G	6: 115,231,111 (GRCm39)		probably benign	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Tfb2m	G	A	1: 179,361,203 (GRCm39)	H262Y	probably benign	Het
Trmt1l	A	G	1: 151,333,426 (GRCm39)		probably benign	Het
Trpm6	C	A	19: 18,800,742 (GRCm39)	P819T	probably benign	Het
Ttn	G	A	2: 76,574,033 (GRCm39)	A25620V	probably damaging	Het
Ubn2	T	C	6: 38,459,553 (GRCm39)		probably null	Het
Vars1	T	C	17: 35,230,572 (GRCm39)		probably benign	Het
Vip	A	T	10: 5,594,004 (GRCm39)	D119V	possibly damaging	Het
Vmn2r92	C	T	17: 18,388,219 (GRCm39)	A408V	probably damaging	Het
Vps33b	T	C	7: 79,935,802 (GRCm39)	I405T	possibly damaging	Het
Zbtb21	T	A	16: 97,753,300 (GRCm39)	S356C	probably damaging	Het
Zdhhc6	A	T	19: 55,297,362 (GRCm39)	S237T	probably benign	Het
Zfp692	T	A	11: 58,205,140 (GRCm39)	V463E	possibly damaging	Het
Zmynd8	A	T	2: 165,670,322 (GRCm39)	I384N	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
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
R5233:Zfp142	UTSW	1	74,624,608 (GRCm39)	missense	probably damaging	1.00
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'- ACCAGTATGCAGCAGCATGTGTC -3'
(R):5'- GTAGAGAGGAATGCACTTAACCGCC -3'

Sequencing Primer
(F):5'- ATGTGTCGGATAAGCACCC -3'
(R):5'- GCACGAGGATATTTCCAACTTCTAC -3'

Posted On

2013-05-09