Mutagenetix > Incidental Mutation

Incidental Mutation 'R0219:Zfp442'

33705

Institutional Source

Beutler Lab

Gene Symbol

Zfp442

Ensembl Gene

ENSMUSG00000068130

Gene Name

zinc finger protein 442

Synonyms

OTTMUSG00000015730

MMRRC Submission

038468-MU

Accession Numbers

Essential gene?

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

Stock #

R0219 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

150249061-150293406 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 150253160 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 33 (L33Q)

Ref Sequence

ENSEMBL: ENSMUSP00000140098 (fasta)

Gene Model

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

AlphaFold

A2AQA0

Predicted Effect

probably damaging
Transcript: ENSMUST00000109916
AA Change: L34Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105542
Gene: ENSMUSG00000068130
AA Change: L34Q

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: L33Q

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140098
Gene: ENSMUSG00000068130
AA Change: L33Q

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

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.3%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	T	12: 118,849,885 (GRCm39)		probably benign	Het
Acacb	T	A	5: 114,371,005 (GRCm39)	M1749K	possibly damaging	Het
Aff1	GCTCTCTCTC	GCTCTCTCTCTC	5: 103,958,906 (GRCm39)		probably benign	Het
Ankle2	C	T	5: 110,399,511 (GRCm39)	R624*	probably null	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Brca2	A	G	5: 150,446,640 (GRCm39)		probably benign	Het
Ccdc116	T	A	16: 16,959,476 (GRCm39)	R404S	possibly damaging	Het
Ccdc171	A	G	4: 83,614,678 (GRCm39)		probably benign	Het
Ccdc80	A	G	16: 44,916,846 (GRCm39)	K534R	probably damaging	Het
Ccna1	T	C	3: 54,958,348 (GRCm39)	I112V	probably benign	Het
Cdhr1	A	C	14: 36,801,558 (GRCm39)	L795R	possibly damaging	Het
Cilp	C	A	9: 65,176,872 (GRCm39)	L43I	possibly damaging	Het
Dclk2	T	C	3: 86,720,976 (GRCm39)		probably benign	Het
Ddx59	C	A	1: 136,360,047 (GRCm39)		probably benign	Het
Dgkd	T	C	1: 87,865,996 (GRCm39)		probably benign	Het
Dicer1	A	G	12: 104,658,384 (GRCm39)		probably null	Het
Dst	T	G	1: 34,342,559 (GRCm39)	S5030A	probably damaging	Het
Dysf	G	A	6: 84,106,443 (GRCm39)		probably benign	Het
Farp1	C	A	14: 121,481,012 (GRCm39)	P471Q	possibly damaging	Het
Fbp2	A	T	13: 63,001,862 (GRCm39)	F118I	probably damaging	Het
Fcer1g	A	G	1: 171,058,795 (GRCm39)	V31A	possibly damaging	Het
Glb1l2	A	G	9: 26,717,618 (GRCm39)	V21A	probably benign	Het
Gm9912	T	C	3: 148,891,131 (GRCm39)	I1V	unknown	Het
Guf1	G	A	5: 69,716,929 (GRCm39)	A164T	probably damaging	Het
Hbb-bs	T	C	7: 103,475,876 (GRCm39)	H147R	possibly damaging	Het
Hnrnpr	T	A	4: 136,066,474 (GRCm39)		probably benign	Het
Iglon5	A	T	7: 43,126,261 (GRCm39)	V214E	probably damaging	Het
Isx	C	A	8: 75,616,589 (GRCm39)		probably null	Het
Kank4	T	C	4: 98,666,702 (GRCm39)	N582D	probably benign	Het
Kcp	T	A	6: 29,495,784 (GRCm39)	R773W	probably damaging	Het
Kdm4c	T	C	4: 74,291,857 (GRCm39)	C825R	probably damaging	Het
Krt25	G	A	11: 99,208,885 (GRCm39)	T315M	probably benign	Het
Lrp5	A	T	19: 3,647,349 (GRCm39)	S1298T	probably damaging	Het
Map3k10	T	C	7: 27,356,156 (GRCm39)	D921G	probably damaging	Het
Mrgprx1	C	A	7: 47,671,294 (GRCm39)	W151L	probably damaging	Het
Mylk3	T	A	8: 86,081,873 (GRCm39)	D375V	probably damaging	Het
Nav3	C	T	10: 109,702,791 (GRCm39)		probably null	Het
Ncan	A	G	8: 70,567,984 (GRCm39)	S43P	probably benign	Het
Necab3	G	T	2: 154,388,013 (GRCm39)	Q292K	probably benign	Het
Nptx2	T	C	5: 144,484,950 (GRCm39)	S148P	probably damaging	Het
Or2at4	A	T	7: 99,385,135 (GRCm39)	I262L	probably benign	Het
Or6p1	G	A	1: 174,258,032 (GRCm39)	V13I	probably benign	Het
Pde6a	A	G	18: 61,419,006 (GRCm39)	E794G	possibly damaging	Het
Pus7	T	C	5: 23,980,964 (GRCm39)	Y133C	possibly damaging	Het
Rad21l	A	G	2: 151,496,508 (GRCm39)		probably benign	Het
Rptor	A	T	11: 119,712,603 (GRCm39)		probably benign	Het
Sart1	C	A	19: 5,438,424 (GRCm39)	A78S	probably benign	Het
Shkbp1	T	C	7: 27,051,486 (GRCm39)	E191G	probably benign	Het
Slc6a18	A	T	13: 73,822,751 (GRCm39)		probably null	Het
Stxbp5	T	C	10: 9,646,272 (GRCm39)	T147A	probably benign	Het
Sv2b	A	G	7: 74,807,015 (GRCm39)		probably null	Het
Syne2	A	T	12: 76,088,778 (GRCm39)	K5045N	probably damaging	Het
Tmem174	A	C	13: 98,773,347 (GRCm39)	M161R	possibly damaging	Het
Tmprss7	A	G	16: 45,476,820 (GRCm39)	V814A	probably damaging	Het
Togaram2	T	C	17: 72,021,225 (GRCm39)		probably benign	Het
Tpr	T	C	1: 150,319,009 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,730,572 (GRCm39)		probably benign	Het
Ubr4	T	A	4: 139,157,568 (GRCm39)	L2375Q	possibly damaging	Het
Utp20	T	C	10: 88,600,537 (GRCm39)	E1987G	probably damaging	Het
Utrn	T	C	10: 12,560,195 (GRCm39)	T1365A	probably damaging	Het
Vmn2r116	T	A	17: 23,605,072 (GRCm39)	Y128*	probably null	Het
Vmn2r5	A	G	3: 64,411,734 (GRCm39)	V278A	probably damaging	Het
Vps13d	C	T	4: 144,832,479 (GRCm39)	S2809N	probably benign	Het
Zfp212	G	A	6: 47,903,619 (GRCm39)	R68H	probably damaging	Het
Zfp629	T	C	7: 127,211,255 (GRCm39)	S185G	probably damaging	Het
Zfp738	A	G	13: 67,831,508 (GRCm39)		probably benign	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
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
R7848:Zfp442	UTSW	2	150,253,146 (GRCm39)	missense	possibly damaging	0.71
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

Posted On

2013-05-09