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

044588-MU

Accession Numbers

Essential gene?

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

Stock #

R6452 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

150249061-150293406 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 150250028 bp (GRCm39)

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
3110070M22Rik	A	G	13: 119,624,651 (GRCm39)		probably benign	Het
Alox12e	A	T	11: 70,210,831 (GRCm39)	V296E	probably damaging	Het
Bmal2	G	A	6: 146,724,705 (GRCm39)	E400K	probably benign	Het
Ccdc171	A	G	4: 83,782,527 (GRCm39)	D1273G	probably damaging	Het
Cetn3	C	T	13: 81,932,797 (GRCm39)	R19*	probably null	Het
Chd6	G	T	2: 160,807,418 (GRCm39)	P1932H	possibly damaging	Het
Cimip1	C	A	2: 173,369,700 (GRCm39)	F71L	probably benign	Het
Cyp2d34	A	T	15: 82,500,290 (GRCm39)	I483N	probably benign	Het
Dglucy	T	C	12: 100,801,468 (GRCm39)	V71A	possibly damaging	Het
Dhx35	A	G	2: 158,673,607 (GRCm39)	E346G	probably damaging	Het
Dnajc14	A	G	10: 128,643,359 (GRCm39)	E427G	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fasn	G	T	11: 120,706,237 (GRCm39)	Q1036K	probably damaging	Het
Fermt3	A	T	19: 6,992,105 (GRCm39)	F92I	probably benign	Het
Filip1l	C	A	16: 57,327,163 (GRCm39)	D64E	possibly damaging	Het
Fnbp1l	A	G	3: 122,338,198 (GRCm39)	F491S	probably damaging	Het
Fzd2	T	G	11: 102,495,811 (GRCm39)	V85G	probably damaging	Het
Gjd4	G	A	18: 9,280,457 (GRCm39)	T207M	possibly damaging	Het
Gm32742	T	C	9: 51,057,490 (GRCm39)	E1096G	probably damaging	Het
Itgb3	T	A	11: 104,524,290 (GRCm39)	L142*	probably null	Het
Kctd21	T	A	7: 96,996,869 (GRCm39)	I114N	probably benign	Het
Klra4	G	T	6: 130,042,329 (GRCm39)		probably null	Het
Larp4b	T	C	13: 9,197,503 (GRCm39)	V240A	probably damaging	Het
Lrriq4	T	C	3: 30,709,882 (GRCm39)	S409P	probably damaging	Het
Magel2	A	G	7: 62,030,132 (GRCm39)	E1012G	unknown	Het
Mmp24	A	T	2: 155,657,673 (GRCm39)	D521V	possibly damaging	Het
Mocos	A	G	18: 24,828,998 (GRCm39)	I768V	probably benign	Het
Mprip	A	T	11: 59,643,609 (GRCm39)	E553V	probably damaging	Het
Myh8	A	T	11: 67,196,565 (GRCm39)	I1762F	possibly damaging	Het
Myh8	A	T	11: 67,183,275 (GRCm39)	Y718F	probably benign	Het
Myo7a	C	T	7: 97,722,374 (GRCm39)	V1184M	probably benign	Het
Neb	A	T	2: 52,069,495 (GRCm39)	D5775E	probably benign	Het
Or10h5	T	C	17: 33,434,919 (GRCm39)	N133S	probably benign	Het
Or5p66	A	G	7: 107,886,100 (GRCm39)	S78P	probably damaging	Het
Pramel19	T	C	4: 101,798,640 (GRCm39)	Y204H	probably benign	Het
Prl8a2	T	C	13: 27,536,780 (GRCm39)	I134T	probably benign	Het
Qrich2	G	A	11: 116,346,714 (GRCm39)	T1370I	probably benign	Het
Rabgap1l	A	G	1: 160,281,331 (GRCm39)	L630P	probably damaging	Het
Ranbp2	G	T	10: 58,313,979 (GRCm39)	L1566F	probably benign	Het
Rnf43	T	A	11: 87,623,079 (GRCm39)	W727R	probably damaging	Het
Rundc3b	A	T	5: 8,629,175 (GRCm39)		probably null	Het
Samm50	T	G	15: 84,088,298 (GRCm39)		probably benign	Het
Sema4f	G	A	6: 82,894,643 (GRCm39)	A476V	probably benign	Het
Slc4a4	A	G	5: 89,376,839 (GRCm39)	N1031S	probably benign	Het
Slc4a9	A	G	18: 36,664,512 (GRCm39)	Y390C	probably damaging	Het
Slco6d1	C	A	1: 98,348,937 (GRCm39)	Q3K	probably benign	Het
Smim1	T	C	4: 154,108,071 (GRCm39)		probably benign	Het
Spg7	A	G	8: 123,806,162 (GRCm39)	K291E	possibly damaging	Het
Sppl2c	A	T	11: 104,079,017 (GRCm39)	T606S	probably benign	Het
Tex15	A	G	8: 34,062,844 (GRCm39)	D758G	probably damaging	Het
Tigd5	A	T	15: 75,783,287 (GRCm39)	R550*	probably null	Het
Tlcd3a	G	T	11: 76,097,972 (GRCm39)	G60*	probably null	Het
Tnrc18	A	C	5: 142,712,767 (GRCm39)	L2594R	probably damaging	Het
Vezf1	A	G	11: 87,972,496 (GRCm39)	T468A	possibly damaging	Het
Vmn1r210	T	A	13: 23,011,840 (GRCm39)	I149F	probably damaging	Het
Vmn2r96	A	C	17: 18,804,117 (GRCm39)	T264P	probably benign	Het
Zfp217	C	G	2: 169,961,214 (GRCm39)	S371T	probably benign	Het
Zfp53	A	C	17: 21,729,875 (GRCm39)	H636P	probably damaging	Het
Zscan4d	C	T	7: 10,895,999 (GRCm39)	C457Y	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
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

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