Mutagenetix > Incidental Mutation

Incidental Mutation 'R7848:Zfp442'

606713

Institutional Source

Beutler Lab

Gene Symbol

Zfp442

Ensembl Gene

ENSMUSG00000068130

Gene Name

zinc finger protein 442

Synonyms

OTTMUSG00000015730

MMRRC Submission

045902-MU

Accession Numbers

Essential gene?

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

Stock #

R7848 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

150249061-150293406 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 150253146 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 39 (N39D)

Ref Sequence

ENSEMBL: ENSMUSP00000105542 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109916] [ENSMUST00000185796]

AlphaFold

A2AQA0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109916
AA Change: N39D

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105542
Gene: ENSMUSG00000068130
AA Change: N39D

Domain	Start	End	E-Value	Type
KRAB	4	66	3.27e-19	SMART
ZnF_C2H2	159	181	8.34e-3	SMART
ZnF_C2H2	211	233	9.58e-3	SMART
ZnF_C2H2	239	261	2.43e-4	SMART
ZnF_C2H2	267	289	1.38e-3	SMART
ZnF_C2H2	295	317	4.17e-3	SMART
ZnF_C2H2	323	345	3.16e-3	SMART
ZnF_C2H2	351	373	1.58e-3	SMART
ZnF_C2H2	379	401	9.58e-3	SMART
ZnF_C2H2	407	429	2.09e-3	SMART
ZnF_C2H2	435	457	2.2e-2	SMART
ZnF_C2H2	463	485	1.6e-4	SMART
ZnF_C2H2	491	513	1.82e-3	SMART
ZnF_C2H2	519	541	4.47e-3	SMART
ZnF_C2H2	547	569	3.63e-3	SMART
ZnF_C2H2	575	597	4.79e-3	SMART
ZnF_C2H2	603	625	8.47e-4	SMART
ZnF_C2H2	631	654	3.11e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000185796
AA Change: N38D

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140098
Gene: ENSMUSG00000068130
AA Change: N38D

Domain	Start	End	E-Value	Type
KRAB	3	65	1.4e-21	SMART
ZnF_C2H2	158	180	3.4e-5	SMART
ZnF_C2H2	210	232	3.9e-5	SMART
ZnF_C2H2	238	260	1e-6	SMART
ZnF_C2H2	266	288	5.6e-6	SMART
ZnF_C2H2	294	316	1.8e-5	SMART
ZnF_C2H2	322	344	1.3e-5	SMART
ZnF_C2H2	350	372	6.7e-6	SMART
ZnF_C2H2	378	400	9.6e-5	SMART
ZnF_C2H2	406	428	6.9e-7	SMART
ZnF_C2H2	434	456	7.7e-6	SMART
ZnF_C2H2	462	484	1.9e-5	SMART
ZnF_C2H2	490	512	1.5e-5	SMART
ZnF_C2H2	518	540	2e-5	SMART
ZnF_C2H2	546	568	3.5e-6	SMART
ZnF_C2H2	574	597	1.3e-4	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	C	T	5: 113,340,007 (GRCm39)	A2T	probably damaging	Het
Abca3	G	T	17: 24,603,506 (GRCm39)	G566V	probably damaging	Het
Aff4	C	A	11: 53,295,339 (GRCm39)	N846K	probably benign	Het
Aldh1l2	C	T	10: 83,335,707 (GRCm39)	R714Q	probably benign	Het
Cbln1	T	C	8: 88,198,328 (GRCm39)	T126A	probably damaging	Het
Ccdc85a	A	G	11: 28,346,123 (GRCm39)	S446P	possibly damaging	Het
Ccdc87	A	G	19: 4,891,536 (GRCm39)	Q676R	probably damaging	Het
Cenatac	A	G	9: 44,324,939 (GRCm39)	S139P	probably damaging	Het
Col26a1	T	C	5: 136,775,907 (GRCm39)	K349E	possibly damaging	Het
Col6a5	T	C	9: 105,805,385 (GRCm39)	I1174V	unknown	Het
Cyth1	TGGGCAA	T	11: 118,074,749 (GRCm39)		probably null	Het
Dmxl1	A	G	18: 49,973,557 (GRCm39)	D64G	possibly damaging	Het
Dnajc15	T	C	14: 78,077,643 (GRCm39)	H114R	probably damaging	Het
Espl1	T	C	15: 102,224,961 (GRCm39)	F1390S	probably damaging	Het
F5	T	C	1: 163,989,446 (GRCm39)	I116T	possibly damaging	Het
Fam120b	T	C	17: 15,626,036 (GRCm39)	V463A	possibly damaging	Het
Fat4	A	G	3: 38,942,000 (GRCm39)	M298V	probably benign	Het
Fhad1	A	T	4: 141,632,913 (GRCm39)	M1197K	probably benign	Het
Fn1	T	A	1: 71,689,760 (GRCm39)	I127F	probably damaging	Het
Frmd4a	A	G	2: 4,596,728 (GRCm39)		probably benign	Het
Gabpb2	A	T	3: 95,097,959 (GRCm39)	V238E	probably damaging	Het
Gnpat	C	A	8: 125,613,630 (GRCm39)	Q626K	possibly damaging	Het
Gstm7	A	T	3: 107,835,902 (GRCm39)		probably null	Het
Gys2	G	T	6: 142,391,741 (GRCm39)	S507*	probably null	Het
Ippk	T	A	13: 49,596,972 (GRCm39)		probably null	Het
Itga8	T	A	2: 12,196,548 (GRCm39)	N623I	probably damaging	Het
Kcnb1	A	G	2: 166,948,188 (GRCm39)	F220S	probably damaging	Het
Kiz	T	A	2: 146,731,100 (GRCm39)	S197T	probably benign	Het
Klhl42	A	G	6: 147,009,598 (GRCm39)	N479S	probably damaging	Het
Lims2	A	G	18: 32,091,301 (GRCm39)	*60W	probably null	Het
Lrch4	A	G	5: 137,632,116 (GRCm39)	N124S	probably damaging	Het
Man2a2	G	C	7: 80,018,613 (GRCm39)	A82G	probably benign	Het
Map3k13	T	C	16: 21,724,621 (GRCm39)	V373A	probably damaging	Het
Mapkapk5	A	G	5: 121,683,232 (GRCm39)	I11T	probably benign	Het
Mroh2b	C	T	15: 4,967,861 (GRCm39)	Q967*	probably null	Het
Mthfd1l	A	G	10: 4,033,739 (GRCm39)	T709A	possibly damaging	Het
Muc6	T	C	7: 141,232,188 (GRCm39)	T939A	possibly damaging	Het
Ncam2	C	T	16: 81,287,267 (GRCm39)	H394Y	probably benign	Het
Ncoa7	A	T	10: 30,524,414 (GRCm39)	N161K	possibly damaging	Het
Nr2c1	C	T	10: 94,026,508 (GRCm39)	S461L	probably benign	Het
Nrg3	T	C	14: 38,390,240 (GRCm39)	E323G	probably damaging	Het
Nufip1	G	A	14: 76,351,661 (GRCm39)	R172H	probably damaging	Het
Nup210l	A	G	3: 90,111,212 (GRCm39)	T1705A	probably benign	Het
Oaf	G	A	9: 43,134,077 (GRCm39)	R215C	probably damaging	Het
Ogfr	T	C	2: 180,234,226 (GRCm39)	L99P	probably damaging	Het
Or10am5	T	C	7: 6,517,861 (GRCm39)	D189G	probably damaging	Het
Or51a43	T	A	7: 103,717,302 (GRCm39)	N312I	probably benign	Het
Pcare	T	C	17: 72,056,188 (GRCm39)	D1163G	probably benign	Het
Pcdh18	A	T	3: 49,710,446 (GRCm39)	S290T	possibly damaging	Het
Pklr	T	G	3: 89,050,285 (GRCm39)	I378S	possibly damaging	Het
Rbm12	A	T	2: 155,938,136 (GRCm39)	M712K	probably benign	Het
Rnase10	T	C	14: 51,246,970 (GRCm39)	V116A	possibly damaging	Het
Scube3	T	C	17: 28,384,569 (GRCm39)	L621P	probably benign	Het
Slc35e1	T	C	8: 73,246,280 (GRCm39)	I51V	probably benign	Het
Smcr8	A	G	11: 60,670,750 (GRCm39)	T633A	probably benign	Het
St18	T	C	1: 6,927,669 (GRCm39)		probably null	Het
Tm9sf4	T	A	2: 153,044,275 (GRCm39)	I509N	probably damaging	Het
Tmcc2	T	C	1: 132,288,359 (GRCm39)	K443E	probably damaging	Het
Tmem98	T	G	11: 80,710,758 (GRCm39)	V139G	probably damaging	Het
Trgv5	G	A	13: 19,376,849 (GRCm39)	V99I	probably damaging	Het
Ttll1	T	C	15: 83,381,573 (GRCm39)	E232G	probably damaging	Het

Other mutations in Zfp442

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01081:Zfp442	APN	2	150,251,267 (GRCm39)	nonsense	probably null
IGL02566:Zfp442	APN	2	150,251,711 (GRCm39)	critical splice acceptor site	probably null
IGL03217:Zfp442	APN	2	150,251,714 (GRCm39)	splice site	probably benign
LCD18:Zfp442	UTSW	2	150,261,768 (GRCm39)	intron	probably benign
PIT4812001:Zfp442	UTSW	2	150,251,661 (GRCm39)	nonsense	probably null
R0219:Zfp442	UTSW	2	150,253,160 (GRCm39)	missense	probably damaging	0.99
R0521:Zfp442	UTSW	2	150,253,169 (GRCm39)	missense	possibly damaging	0.92
R1633:Zfp442	UTSW	2	150,250,260 (GRCm39)	nonsense	probably null
R1702:Zfp442	UTSW	2	150,251,100 (GRCm39)	nonsense	probably null
R1829:Zfp442	UTSW	2	150,250,983 (GRCm39)	missense	probably damaging	0.99
R1868:Zfp442	UTSW	2	150,250,100 (GRCm39)	missense	probably damaging	1.00
R1898:Zfp442	UTSW	2	150,250,582 (GRCm39)	missense	probably damaging	1.00
R2030:Zfp442	UTSW	2	150,250,042 (GRCm39)	missense	possibly damaging	0.58
R4676:Zfp442	UTSW	2	150,251,526 (GRCm39)	missense	probably damaging	1.00
R4717:Zfp442	UTSW	2	150,250,149 (GRCm39)	missense	probably damaging	1.00
R4894:Zfp442	UTSW	2	150,253,130 (GRCm39)	critical splice donor site	probably null
R4932:Zfp442	UTSW	2	150,251,635 (GRCm39)	missense	possibly damaging	0.53
R4963:Zfp442	UTSW	2	150,250,415 (GRCm39)	missense	probably damaging	1.00
R5130:Zfp442	UTSW	2	150,251,530 (GRCm39)	missense	possibly damaging	0.91
R5476:Zfp442	UTSW	2	150,250,079 (GRCm39)	missense	probably damaging	1.00
R5986:Zfp442	UTSW	2	150,249,944 (GRCm39)	nonsense	probably null
R6042:Zfp442	UTSW	2	150,250,016 (GRCm39)	missense	probably damaging	0.97
R6383:Zfp442	UTSW	2	150,293,321 (GRCm39)	critical splice donor site	probably null
R6452:Zfp442	UTSW	2	150,250,028 (GRCm39)	missense	probably damaging	1.00
R6787:Zfp442	UTSW	2	150,251,499 (GRCm39)	missense	possibly damaging	0.72
R6931:Zfp442	UTSW	2	150,252,860 (GRCm39)	critical splice donor site	probably null
R7061:Zfp442	UTSW	2	150,249,937 (GRCm39)	missense	probably benign	0.33
R7184:Zfp442	UTSW	2	150,250,056 (GRCm39)	missense	possibly damaging	0.71
R7214:Zfp442	UTSW	2	150,251,201 (GRCm39)	missense	probably benign	0.04
R7225:Zfp442	UTSW	2	150,250,925 (GRCm39)	missense	probably benign	0.00
R7513:Zfp442	UTSW	2	150,250,676 (GRCm39)	missense	unknown
R7591:Zfp442	UTSW	2	150,250,092 (GRCm39)	nonsense	probably null
R7679:Zfp442	UTSW	2	150,252,917 (GRCm39)	nonsense	probably null
R7768:Zfp442	UTSW	2	150,250,241 (GRCm39)	missense	possibly damaging	0.53
R7801:Zfp442	UTSW	2	150,251,639 (GRCm39)	missense	probably benign	0.28
R7814:Zfp442	UTSW	2	150,251,402 (GRCm39)	missense	possibly damaging	0.92
R8158:Zfp442	UTSW	2	150,251,096 (GRCm39)	missense	possibly damaging	0.83
R8192:Zfp442	UTSW	2	150,250,629 (GRCm39)	missense	unknown
R8528:Zfp442	UTSW	2	150,250,962 (GRCm39)	missense	probably damaging	1.00
R9110:Zfp442	UTSW	2	150,250,093 (GRCm39)	missense	probably benign	0.30
R9269:Zfp442	UTSW	2	150,251,287 (GRCm39)	missense	probably benign	0.19
R9371:Zfp442	UTSW	2	150,250,676 (GRCm39)	missense	unknown
R9401:Zfp442	UTSW	2	150,251,615 (GRCm39)	missense	possibly damaging	0.53
R9459:Zfp442	UTSW	2	150,250,668 (GRCm39)	missense	unknown
R9711:Zfp442	UTSW	2	150,250,207 (GRCm39)	missense	possibly damaging	0.93
Z1177:Zfp442	UTSW	2	150,250,399 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GTTCTTCAGGATTATGGTCTTCCC -3'
(R):5'- GCTGCCATTTCTCTTGCAAC -3'

Sequencing Primer
(F):5'- CTGTAGCCTAAATATAATGCCAGAG -3'
(R):5'- AACTCTTTATCCTATCCAAGGGGTG -3'

Posted On

2019-12-20