Mutagenetix > Incidental Mutation

Incidental Mutation 'R6452:Zfp442'

519392

Institutional Source

Beutler Lab

Gene Symbol

Zfp442

Ensembl Gene

ENSMUSG00000068130

Gene Name

zinc finger protein 442

Synonyms

OTTMUSG00000015730

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R6452 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

150407141-150451486 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 150408108 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 568 (H568Y)

Ref Sequence

ENSEMBL: ENSMUSP00000140098 (fasta)

Gene Model

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

AlphaFold

A2AQA0

Predicted Effect

probably benign
Transcript: ENSMUST00000109916
AA Change: H625Y

PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000105542
Gene: ENSMUSG00000068130
AA Change: H625Y

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: H568Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140098
Gene: ENSMUSG00000068130
AA Change: H568Y

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: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021F07Rik	C	A	2: 173,527,907	F71L	probably benign	Het
3110070M22Rik	A	G	13: 119,488,115		probably benign	Het
Alox12e	A	T	11: 70,320,005	V296E	probably damaging	Het
Arntl2	G	A	6: 146,823,207	E400K	probably benign	Het
Ccdc171	A	G	4: 83,864,290	D1273G	probably damaging	Het
Cetn3	C	T	13: 81,784,678	R19*	probably null	Het
Chd6	G	T	2: 160,965,498	P1932H	possibly damaging	Het
Cyp2d34	A	T	15: 82,616,089	I483N	probably benign	Het
Dglucy	T	C	12: 100,835,209	V71A	possibly damaging	Het
Dhx35	A	G	2: 158,831,687	E346G	probably damaging	Het
Dnajc14	A	G	10: 128,807,490	E427G	probably damaging	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Fam57a	G	T	11: 76,207,146	G60*	probably null	Het
Fasn	G	T	11: 120,815,411	Q1036K	probably damaging	Het
Fermt3	A	T	19: 7,014,737	F92I	probably benign	Het
Filip1l	C	A	16: 57,506,800	D64E	possibly damaging	Het
Fnbp1l	A	G	3: 122,544,549	F491S	probably damaging	Het
Fzd2	T	G	11: 102,604,985	V85G	probably damaging	Het
Gjd4	G	A	18: 9,280,457	T207M	possibly damaging	Het
Gm12794	T	C	4: 101,941,443	Y204H	probably benign	Het
Gm32742	T	C	9: 51,146,190	E1096G	probably damaging	Het
Itgb3	T	A	11: 104,633,464	L142*	probably null	Het
Kctd21	T	A	7: 97,347,662	I114N	probably benign	Het
Klra4	G	T	6: 130,065,366		probably null	Het
Larp4b	T	C	13: 9,147,467	V240A	probably damaging	Het
Lrriq4	T	C	3: 30,655,733	S409P	probably damaging	Het
Magel2	A	G	7: 62,380,384	E1012G	unknown	Het
Mmp24	A	T	2: 155,815,753	D521V	possibly damaging	Het
Mocos	A	G	18: 24,695,941	I768V	probably benign	Het
Mprip	A	T	11: 59,752,783	E553V	probably damaging	Het
Myh8	A	T	11: 67,292,449	Y718F	probably benign	Het
Myh8	A	T	11: 67,305,739	I1762F	possibly damaging	Het
Myo7a	C	T	7: 98,073,167	V1184M	probably benign	Het
Neb	A	T	2: 52,179,483	D5775E	probably benign	Het
Olfr1564	T	C	17: 33,215,945	N133S	probably benign	Het
Olfr490	A	G	7: 108,286,893	S78P	probably damaging	Het
Prl8a2	T	C	13: 27,352,797	I134T	probably benign	Het
Qrich2	G	A	11: 116,455,888	T1370I	probably benign	Het
Rabgap1l	A	G	1: 160,453,761	L630P	probably damaging	Het
Ranbp2	G	T	10: 58,478,157	L1566F	probably benign	Het
Rnf43	T	A	11: 87,732,253	W727R	probably damaging	Het
Rundc3b	A	T	5: 8,579,175		probably null	Het
Samm50	T	G	15: 84,204,097		probably benign	Het
Sema4f	G	A	6: 82,917,662	A476V	probably benign	Het
Slc4a4	A	G	5: 89,228,980	N1031S	probably benign	Het
Slc4a9	A	G	18: 36,531,459	Y390C	probably damaging	Het
Slco6d1	C	A	1: 98,421,212	Q3K	probably benign	Het
Smim1	T	C	4: 154,023,614		probably benign	Het
Spg7	A	G	8: 123,079,423	K291E	possibly damaging	Het
Sppl2c	A	T	11: 104,188,191	T606S	probably benign	Het
Tex15	A	G	8: 33,572,816	D758G	probably damaging	Het
Tigd5	A	T	15: 75,911,438	R550*	probably null	Het
Tnrc18	A	C	5: 142,727,012	L2594R	probably damaging	Het
Vezf1	A	G	11: 88,081,670	T468A	possibly damaging	Het
Vmn1r210	T	A	13: 22,827,670	I149F	probably damaging	Het
Vmn2r96	A	C	17: 18,583,855	T264P	probably benign	Het
Zfp217	C	G	2: 170,119,294	S371T	probably benign	Het
Zfp53	A	C	17: 21,509,613	H636P	probably damaging	Het
Zscan4d	C	T	7: 11,162,072	C457Y	probably damaging	Het

Other mutations in Zfp442

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01081:Zfp442	APN	2	150409347	nonsense	probably null
IGL02566:Zfp442	APN	2	150409791	critical splice acceptor site	probably null
IGL03217:Zfp442	APN	2	150409794	splice site	probably benign
LCD18:Zfp442	UTSW	2	150419848	intron	probably benign
PIT4812001:Zfp442	UTSW	2	150409741	nonsense	probably null
R0219:Zfp442	UTSW	2	150411240	missense	probably damaging	0.99
R0521:Zfp442	UTSW	2	150411249	missense	possibly damaging	0.92
R1633:Zfp442	UTSW	2	150408340	nonsense	probably null
R1702:Zfp442	UTSW	2	150409180	nonsense	probably null
R1829:Zfp442	UTSW	2	150409063	missense	probably damaging	0.99
R1868:Zfp442	UTSW	2	150408180	missense	probably damaging	1.00
R1898:Zfp442	UTSW	2	150408662	missense	probably damaging	1.00
R2030:Zfp442	UTSW	2	150408122	missense	possibly damaging	0.58
R4676:Zfp442	UTSW	2	150409606	missense	probably damaging	1.00
R4717:Zfp442	UTSW	2	150408229	missense	probably damaging	1.00
R4894:Zfp442	UTSW	2	150411210	critical splice donor site	probably null
R4932:Zfp442	UTSW	2	150409715	missense	possibly damaging	0.53
R4963:Zfp442	UTSW	2	150408495	missense	probably damaging	1.00
R5130:Zfp442	UTSW	2	150409610	missense	possibly damaging	0.91
R5476:Zfp442	UTSW	2	150408159	missense	probably damaging	1.00
R5986:Zfp442	UTSW	2	150408024	nonsense	probably null
R6042:Zfp442	UTSW	2	150408096	missense	probably damaging	0.97
R6383:Zfp442	UTSW	2	150451401	critical splice donor site	probably null
R6787:Zfp442	UTSW	2	150409579	missense	possibly damaging	0.72
R6931:Zfp442	UTSW	2	150410940	critical splice donor site	probably null
R7061:Zfp442	UTSW	2	150408017	missense	probably benign	0.33
R7184:Zfp442	UTSW	2	150408136	missense	possibly damaging	0.71
R7214:Zfp442	UTSW	2	150409281	missense	probably benign	0.04
R7225:Zfp442	UTSW	2	150409005	missense	probably benign	0.00
R7513:Zfp442	UTSW	2	150408756	missense	unknown
R7591:Zfp442	UTSW	2	150408172	nonsense	probably null
R7679:Zfp442	UTSW	2	150410997	nonsense	probably null
R7768:Zfp442	UTSW	2	150408321	missense	possibly damaging	0.53
R7801:Zfp442	UTSW	2	150409719	missense	probably benign	0.28
R7814:Zfp442	UTSW	2	150409482	missense	possibly damaging	0.92
R7848:Zfp442	UTSW	2	150411226	missense	possibly damaging	0.71
R8158:Zfp442	UTSW	2	150409176	missense	possibly damaging	0.83
R8192:Zfp442	UTSW	2	150408709	missense	unknown
R8528:Zfp442	UTSW	2	150409042	missense	probably damaging	1.00
R9110:Zfp442	UTSW	2	150408173	missense	probably benign	0.30
R9269:Zfp442	UTSW	2	150409367	missense	probably benign	0.19
R9371:Zfp442	UTSW	2	150408756	missense	unknown
R9401:Zfp442	UTSW	2	150409695	missense	possibly damaging	0.53
R9459:Zfp442	UTSW	2	150408748	missense	unknown
R9711:Zfp442	UTSW	2	150408287	missense	possibly damaging	0.93
Z1177:Zfp442	UTSW	2	150408479	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CGATAGAAATGTACAAAGGCTTCAC -3'
(R):5'- GGTAAAGCGTTTGTACTTCACAG -3'

Sequencing Primer
(F):5'- gggtttctctcctgtatgtg -3'
(R):5'- AGCGTTTGTACTTCACAGTTATC -3'

Posted On

2018-05-24