Mutagenetix > Incidental Mutation

Incidental Mutation 'R7225:Zfp442'

562079

Institutional Source

Beutler Lab

Gene Symbol

Zfp442

Ensembl Gene

ENSMUSG00000068130

Gene Name

zinc finger protein 442

Synonyms

OTTMUSG00000015730

MMRRC Submission

045297-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R7225 (G1)

Quality Score

81.0075

Status

Validated

Chromosome

Chromosomal Location

150407141-150451486 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 150409005 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 326 (N326D)

Ref Sequence

ENSEMBL: ENSMUSP00000105542 (fasta)

Gene Model

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

AlphaFold

A2AQA0

Predicted Effect

probably benign
Transcript: ENSMUST00000109916
AA Change: N326D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000105542
Gene: ENSMUSG00000068130
AA Change: N326D

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 benign
Transcript: ENSMUST00000185796
AA Change: N325D

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000140098
Gene: ENSMUSG00000068130
AA Change: N325D

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

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	T	C	12: 110,670,865 (GRCm38)		probably benign	Het
5430403G16Rik	T	C	5: 109,677,149 (GRCm38)	H145R	possibly damaging	Het
5730480H06Rik	T	A	5: 48,380,233 (GRCm38)		probably null	Het
Actn4	A	T	7: 28,898,699 (GRCm38)	V492D	probably damaging	Het
Alpk2	T	C	18: 65,305,199 (GRCm38)	E1041G	probably benign	Het
Asap1	G	A	15: 64,130,250 (GRCm38)	T404M	probably damaging	Het
Cd22	C	T	7: 30,877,634 (GRCm38)	A83T	not run	Het
Cdan1	T	C	2: 120,724,912 (GRCm38)	T783A	probably benign	Het
Cdh9	C	T	15: 16,856,073 (GRCm38)	S733F	probably damaging	Het
Cfap54	A	G	10: 92,904,374 (GRCm38)	F2282S	unknown	Het
Chst9	T	C	18: 15,452,661 (GRCm38)	K282E	probably damaging	Het
Clcn1	G	A	6: 42,293,462 (GRCm38)	D232N	probably damaging	Het
Clpb	T	A	7: 101,711,465 (GRCm38)	L234Q	probably damaging	Het
Cluh	T	G	11: 74,666,406 (GRCm38)		probably null	Het
Cnp	C	T	11: 100,580,587 (GRCm38)	Q352*	probably null	Het
Cyfip1	AGTGT	AGT	7: 55,928,189 (GRCm38)		probably null	Het
Dtx3	C	T	10: 127,191,489 (GRCm38)	C272Y	probably damaging	Het
Dync2h1	A	G	9: 7,142,756 (GRCm38)	I1156T	probably benign	Het
Epg5	T	A	18: 78,012,702 (GRCm38)	V1697E	probably benign	Het
Exoc3l4	A	G	12: 111,423,624 (GRCm38)	D211G	probably benign	Het
Fank1	A	G	7: 133,853,259 (GRCm38)	K36R	probably benign	Het
Fat4	T	C	3: 38,980,176 (GRCm38)	I2659T	possibly damaging	Het
Fer1l5	T	C	1: 36,420,952 (GRCm38)	W1893R	possibly damaging	Het
Gorasp2	T	A	2: 70,684,047 (GRCm38)	L256Q	probably damaging	Het
Gpc5	T	G	14: 115,552,298 (GRCm38)	V528G	probably damaging	Het
Gria2	T	A	3: 80,802,631 (GRCm38)		probably benign	Het
Htatip2	A	G	7: 49,770,856 (GRCm38)	E150G	possibly damaging	Het
Jak3	C	A	8: 71,685,511 (GRCm38)	Q869K	probably benign	Het
Jmjd1c	T	C	10: 67,226,065 (GRCm38)	V1218A	probably benign	Het
Kcnf1	A	G	12: 17,175,693 (GRCm38)	C176R	possibly damaging	Het
Kcnq4	A	G	4: 120,746,914 (GRCm38)	V88A	probably benign	Het
Lmod3	T	A	6: 97,247,384 (GRCm38)	D492V	probably benign	Het
Lurap1l	A	C	4: 80,911,481 (GRCm38)	S43R	probably benign	Het
Mamdc4	T	C	2: 25,565,546 (GRCm38)	H890R	possibly damaging	Het
Mertk	T	G	2: 128,801,562 (GRCm38)	N960K	possibly damaging	Het
Nudt9	C	A	5: 104,065,100 (GRCm38)	D346E	probably benign	Het
Olfr1434	A	T	19: 12,283,467 (GRCm38)	T140S	probably benign	Het
Opa1	A	G	16: 29,614,039 (GRCm38)		probably null	Het
Oxr1	C	T	15: 41,813,608 (GRCm38)	P187L	not run	Het
Paxbp1	T	C	16: 91,027,068 (GRCm38)	E564G	probably damaging	Het
Pcdhb13	C	T	18: 37,444,437 (GRCm38)	R623C	possibly damaging	Het
Pkhd1l1	G	T	15: 44,546,941 (GRCm38)	V2615F	probably damaging	Het
Plin3	T	C	17: 56,286,541 (GRCm38)	T58A	possibly damaging	Het
Por	A	G	5: 135,732,587 (GRCm38)	D309G	probably benign	Het
Ppp2r5e	T	C	12: 75,468,579 (GRCm38)	K261R	probably damaging	Het
Ptpn18	C	T	1: 34,472,846 (GRCm38)	T366I	possibly damaging	Het
Ptprz1	G	A	6: 23,000,929 (GRCm38)	G1006E	possibly damaging	Het
Rnf219	T	C	14: 104,479,858 (GRCm38)	T360A	probably benign	Het
Rpl12	C	T	2: 32,961,897 (GRCm38)		probably benign	Het
Rpsa	T	G	9: 120,131,156 (GRCm38)	F262V	probably benign	Het
Sh3pxd2a	G	T	19: 47,267,389 (GRCm38)	N991K	probably damaging	Het
Shank2	T	A	7: 144,285,025 (GRCm38)	N19K	probably benign	Het
Sik1	T	C	17: 31,854,300 (GRCm38)	T61A	probably benign	Het
Sipa1l3	A	C	7: 29,399,428 (GRCm38)	V472G	probably damaging	Het
Sirt6	A	G	10: 81,622,481 (GRCm38)	S313P	probably benign	Het
Slc12a7	A	G	13: 73,763,962 (GRCm38)		probably benign	Het
Sox13	A	T	1: 133,387,124 (GRCm38)	V266E	probably benign	Het
Spag9	T	C	11: 94,097,358 (GRCm38)	C833R	probably damaging	Het
Tcof1	T	C	18: 60,828,448 (GRCm38)	T812A	unknown	Het
Tnfsf4	A	G	1: 161,417,250 (GRCm38)	D170G	possibly damaging	Het
Tshz3	A	G	7: 36,769,657 (GRCm38)	N357S	probably damaging	Het
Txk	C	T	5: 72,700,714 (GRCm38)	D418N	probably damaging	Het
Ube2j2	A	G	4: 155,949,316 (GRCm38)		probably null	Het
Vmn2r84	G	A	10: 130,386,683 (GRCm38)	P556L	probably damaging	Het

Other mutations in Zfp442

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01081:Zfp442	APN	2	150,409,347 (GRCm38)	nonsense	probably null
IGL02566:Zfp442	APN	2	150,409,791 (GRCm38)	critical splice acceptor site	probably null
IGL03217:Zfp442	APN	2	150,409,794 (GRCm38)	splice site	probably benign
LCD18:Zfp442	UTSW	2	150,419,848 (GRCm38)	intron	probably benign
PIT4812001:Zfp442	UTSW	2	150,409,741 (GRCm38)	nonsense	probably null
R0219:Zfp442	UTSW	2	150,411,240 (GRCm38)	missense	probably damaging	0.99
R0521:Zfp442	UTSW	2	150,411,249 (GRCm38)	missense	possibly damaging	0.92
R1633:Zfp442	UTSW	2	150,408,340 (GRCm38)	nonsense	probably null
R1702:Zfp442	UTSW	2	150,409,180 (GRCm38)	nonsense	probably null
R1829:Zfp442	UTSW	2	150,409,063 (GRCm38)	missense	probably damaging	0.99
R1868:Zfp442	UTSW	2	150,408,180 (GRCm38)	missense	probably damaging	1.00
R1898:Zfp442	UTSW	2	150,408,662 (GRCm38)	missense	probably damaging	1.00
R2030:Zfp442	UTSW	2	150,408,122 (GRCm38)	missense	possibly damaging	0.58
R4676:Zfp442	UTSW	2	150,409,606 (GRCm38)	missense	probably damaging	1.00
R4717:Zfp442	UTSW	2	150,408,229 (GRCm38)	missense	probably damaging	1.00
R4894:Zfp442	UTSW	2	150,411,210 (GRCm38)	critical splice donor site	probably null
R4932:Zfp442	UTSW	2	150,409,715 (GRCm38)	missense	possibly damaging	0.53
R4963:Zfp442	UTSW	2	150,408,495 (GRCm38)	missense	probably damaging	1.00
R5130:Zfp442	UTSW	2	150,409,610 (GRCm38)	missense	possibly damaging	0.91
R5476:Zfp442	UTSW	2	150,408,159 (GRCm38)	missense	probably damaging	1.00
R5986:Zfp442	UTSW	2	150,408,024 (GRCm38)	nonsense	probably null
R6042:Zfp442	UTSW	2	150,408,096 (GRCm38)	missense	probably damaging	0.97
R6383:Zfp442	UTSW	2	150,451,401 (GRCm38)	critical splice donor site	probably null
R6452:Zfp442	UTSW	2	150,408,108 (GRCm38)	missense	probably damaging	1.00
R6787:Zfp442	UTSW	2	150,409,579 (GRCm38)	missense	possibly damaging	0.72
R6931:Zfp442	UTSW	2	150,410,940 (GRCm38)	critical splice donor site	probably null
R7061:Zfp442	UTSW	2	150,408,017 (GRCm38)	missense	probably benign	0.33
R7184:Zfp442	UTSW	2	150,408,136 (GRCm38)	missense	possibly damaging	0.71
R7214:Zfp442	UTSW	2	150,409,281 (GRCm38)	missense	probably benign	0.04
R7513:Zfp442	UTSW	2	150,408,756 (GRCm38)	missense	unknown
R7591:Zfp442	UTSW	2	150,408,172 (GRCm38)	nonsense	probably null
R7679:Zfp442	UTSW	2	150,410,997 (GRCm38)	nonsense	probably null
R7768:Zfp442	UTSW	2	150,408,321 (GRCm38)	missense	possibly damaging	0.53
R7801:Zfp442	UTSW	2	150,409,719 (GRCm38)	missense	probably benign	0.28
R7814:Zfp442	UTSW	2	150,409,482 (GRCm38)	missense	possibly damaging	0.92
R7848:Zfp442	UTSW	2	150,411,226 (GRCm38)	missense	possibly damaging	0.71
R8158:Zfp442	UTSW	2	150,409,176 (GRCm38)	missense	possibly damaging	0.83
R8192:Zfp442	UTSW	2	150,408,709 (GRCm38)	missense	unknown
R8528:Zfp442	UTSW	2	150,409,042 (GRCm38)	missense	probably damaging	1.00
R9110:Zfp442	UTSW	2	150,408,173 (GRCm38)	missense	probably benign	0.30
R9269:Zfp442	UTSW	2	150,409,367 (GRCm38)	missense	probably benign	0.19
R9371:Zfp442	UTSW	2	150,408,756 (GRCm38)	missense	unknown
R9401:Zfp442	UTSW	2	150,409,695 (GRCm38)	missense	possibly damaging	0.53
R9459:Zfp442	UTSW	2	150,408,748 (GRCm38)	missense	unknown
R9711:Zfp442	UTSW	2	150,408,287 (GRCm38)	missense	possibly damaging	0.93
Z1177:Zfp442	UTSW	2	150,408,479 (GRCm38)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GCAAATGCCTTATCACACTGGTC -3'
(R):5'- TAAAGCCTTTTCACAAAACAGCA -3'

Sequencing Primer
(F):5'- ACTGGTCACATCCAAAGGGTTTC -3'
(R):5'- ACCCTATGAATGTAAGCAATGTGG -3'

Posted On

2019-06-26