Mutagenetix > Incidental Mutation

Incidental Mutation 'R5130:Zfp442'

394939

Institutional Source

Beutler Lab

Gene Symbol

Zfp442

Ensembl Gene

ENSMUSG00000068130

Gene Name

zinc finger protein 442

Synonyms

OTTMUSG00000015730

MMRRC Submission

042718-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5130 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

150407141-150451486 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 150409610 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 123 (T123K)

Ref Sequence

ENSEMBL: ENSMUSP00000140098 (fasta)

Gene Model

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

AlphaFold

A2AQA0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109916
AA Change: T124K

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105542
Gene: ENSMUSG00000068130
AA Change: T124K

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

possibly damaging
Transcript: ENSMUST00000185796
AA Change: T123K

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140098
Gene: ENSMUSG00000068130
AA Change: T123K

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.4%

Validation Efficiency

96% (51/53)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930558K02Rik	T	C	1: 161,952,615	N110S	possibly damaging	Het
4932431P20Rik	T	C	7: 29,529,274		noncoding transcript	Het
Acss3	T	C	10: 107,004,725	I392V	possibly damaging	Het
Agbl5	G	A	5: 30,903,059	R141Q	probably damaging	Het
Arhgef11	A	G	3: 87,726,014	H696R	possibly damaging	Het
Baiap3	G	T	17: 25,245,342	D847E	probably benign	Het
Cdc27	T	C	11: 104,534,774	K72R	probably benign	Het
Cry2	T	C	2: 92,424,599	E137G	probably benign	Het
Dhodh	A	T	8: 109,595,756	L237Q	possibly damaging	Het
Dscam	A	T	16: 96,819,779	N576K	probably benign	Het
Eng	A	G	2: 32,681,506	N636S	probably damaging	Het
Ephx2	A	T	14: 66,108,062	I151K	probably damaging	Het
Fahd1	A	G	17: 24,849,759	C115R	probably damaging	Het
Fer1l4	T	A	2: 156,049,466	I143F	possibly damaging	Het
Iqgap3	C	A	3: 88,108,854	N981K	probably damaging	Het
Kcna5	T	C	6: 126,534,533	I211V	probably benign	Het
Mcm9	A	T	10: 53,630,399	V14E	possibly damaging	Het
Mlh1	A	G	9: 111,229,838		probably null	Het
Mylk	A	G	16: 34,988,997	K1775E	probably damaging	Het
Myo18b	T	C	5: 112,873,903	D541G	probably benign	Het
Ncapd2	A	T	6: 125,169,924	M1233K	possibly damaging	Het
Nf2	A	T	11: 4,829,862		probably benign	Het
Nova2	C	T	7: 18,926,144	T22I	unknown	Het
Olfr411	A	T	11: 74,347,167	M19K	probably damaging	Het
Olfr846	T	A	9: 19,361,073	Y94F	possibly damaging	Het
Olfr874	T	A	9: 37,746,509	I125N	probably damaging	Het
Pcdha2	A	T	18: 36,940,669	N451I	probably damaging	Het
Pcdhb12	T	A	18: 37,435,824	F8I	probably benign	Het
Pdzph1	A	C	17: 58,922,609	L1018W	probably damaging	Het
Prdm9	T	C	17: 15,544,467	R684G	probably benign	Het
Rabep1	T	A	11: 70,904,731	V261E	probably damaging	Het
Ros1	T	A	10: 52,163,941	Y318F	possibly damaging	Het
Samd9l	A	T	6: 3,374,548	D904E	possibly damaging	Het
Siah3	A	T	14: 75,525,941	K211*	probably null	Het
Slc5a8	T	A	10: 88,926,215	N572K	probably benign	Het
Slfn8	A	G	11: 83,003,821	F664S	probably benign	Het
Sowahb	T	A	5: 93,042,771	K696N	possibly damaging	Het
St7l	A	T	3: 104,895,764	H330L	probably damaging	Het
Tnrc6c	T	A	11: 117,738,350		probably null	Het
Ttc28	G	T	5: 110,892,856	V37F	probably benign	Het
Uaca	C	A	9: 60,880,228	Q1409K	probably damaging	Het
V1rd19	T	A	7: 24,003,112	M1K	probably null	Het
Vmn1r225	A	G	17: 20,502,785	R163G	possibly damaging	Het
Zc3h3	C	A	15: 75,779,290	V694L	probably damaging	Het
Zmym1	A	T	4: 127,048,658	S646T	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
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
R6452:Zfp442	UTSW	2	150408108	missense	probably damaging	1.00
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'- TAAGGTTTCTCTCCAGTATGCGTTC -3'
(R):5'- CACATGTACCAATTATCTTTGCAGG -3'

Sequencing Primer
(F):5'- GTATAACATGCAAAGTCTTTTCCAC -3'
(R):5'- CTCAGGGGCATCAACAAA -3'

Posted On

2016-06-21