Mutagenetix > Incidental Mutation

Incidental Mutation 'R7809:Zfp383'

601011

Institutional Source

Beutler Lab

Gene Symbol

Zfp383

Ensembl Gene

ENSMUSG00000099689

Gene Name

zinc finger protein 383

Synonyms

1110003H10Rik

MMRRC Submission

045864-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

R7809 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29607705-29616238 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 29609661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 21 (A21T)

Ref Sequence

ENSEMBL: ENSMUSP00000140742 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053521] [ENSMUST00000159920] [ENSMUST00000162592] [ENSMUST00000186475] [ENSMUST00000187028]

AlphaFold

A0A087WRR7

Predicted Effect

probably benign
Transcript: ENSMUST00000053521

SMART Domains

Protein: ENSMUSP00000054012
Gene: ENSMUSG00000062040

Domain	Start	End	E-Value	Type
KRAB	1	59	2.94e-12	SMART
internal_repeat_2	108	195	4.1e-6	PROSPERO
ZnF_C2H2	205	227	3.11e-2	SMART
ZnF_C2H2	233	255	8.47e-4	SMART
ZnF_C2H2	261	283	2.09e-3	SMART
ZnF_C2H2	289	311	2.91e-2	SMART
ZnF_C2H2	317	339	4.17e-3	SMART
ZnF_C2H2	345	367	4.79e-3	SMART
ZnF_C2H2	401	423	7.15e-2	SMART
ZnF_C2H2	429	451	3.69e-4	SMART
ZnF_C2H2	457	479	1.08e-1	SMART
ZnF_C2H2	485	507	2.57e-3	SMART
ZnF_C2H2	513	535	1.5e-4	SMART
ZnF_C2H2	541	563	1.38e-3	SMART
ZnF_C2H2	569	591	1.03e-2	SMART
ZnF_C2H2	597	619	3.34e-2	SMART
ZnF_C2H2	625	647	8.34e-3	SMART
ZnF_C2H2	653	675	2.36e-2	SMART
ZnF_C2H2	681	703	6.88e-4	SMART
ZnF_C2H2	709	731	2.27e-4	SMART
ZnF_C2H2	737	759	6.88e-4	SMART
ZnF_C2H2	765	787	1.72e-4	SMART
ZnF_C2H2	793	815	3.83e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159920

SMART Domains

Protein: ENSMUSP00000125232
Gene: ENSMUSG00000062040

Domain	Start	End	E-Value	Type
KRAB	1	59	2.94e-12	SMART
internal_repeat_2	108	195	4.1e-6	PROSPERO
ZnF_C2H2	205	227	3.11e-2	SMART
ZnF_C2H2	233	255	8.47e-4	SMART
ZnF_C2H2	261	283	2.09e-3	SMART
ZnF_C2H2	289	311	2.91e-2	SMART
ZnF_C2H2	317	339	4.17e-3	SMART
ZnF_C2H2	345	367	4.79e-3	SMART
ZnF_C2H2	401	423	7.15e-2	SMART
ZnF_C2H2	429	451	3.69e-4	SMART
ZnF_C2H2	457	479	1.08e-1	SMART
ZnF_C2H2	485	507	2.57e-3	SMART
ZnF_C2H2	513	535	1.5e-4	SMART
ZnF_C2H2	541	563	1.38e-3	SMART
ZnF_C2H2	569	591	1.03e-2	SMART
ZnF_C2H2	597	619	3.34e-2	SMART
ZnF_C2H2	625	647	8.34e-3	SMART
ZnF_C2H2	653	675	2.36e-2	SMART
ZnF_C2H2	681	703	6.88e-4	SMART
ZnF_C2H2	709	731	2.27e-4	SMART
ZnF_C2H2	737	759	6.88e-4	SMART
ZnF_C2H2	765	787	1.72e-4	SMART
ZnF_C2H2	793	815	3.83e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162592

SMART Domains

Protein: ENSMUSP00000123953
Gene: ENSMUSG00000062040

Domain	Start	End	E-Value	Type
KRAB	1	59	2.94e-12	SMART
internal_repeat_2	108	195	4.1e-6	PROSPERO
ZnF_C2H2	205	227	3.11e-2	SMART
ZnF_C2H2	233	255	8.47e-4	SMART
ZnF_C2H2	261	283	2.09e-3	SMART
ZnF_C2H2	289	311	2.91e-2	SMART
ZnF_C2H2	317	339	4.17e-3	SMART
ZnF_C2H2	345	367	4.79e-3	SMART
ZnF_C2H2	401	423	7.15e-2	SMART
ZnF_C2H2	429	451	3.69e-4	SMART
ZnF_C2H2	457	479	1.08e-1	SMART
ZnF_C2H2	485	507	2.57e-3	SMART
ZnF_C2H2	513	535	1.5e-4	SMART
ZnF_C2H2	541	563	1.38e-3	SMART
ZnF_C2H2	569	591	1.03e-2	SMART
ZnF_C2H2	597	619	3.34e-2	SMART
ZnF_C2H2	625	647	8.34e-3	SMART
ZnF_C2H2	653	675	2.36e-2	SMART
ZnF_C2H2	681	703	6.88e-4	SMART
ZnF_C2H2	709	731	2.27e-4	SMART
ZnF_C2H2	737	759	6.88e-4	SMART
ZnF_C2H2	765	787	1.72e-4	SMART
ZnF_C2H2	793	815	3.83e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000186475
AA Change: A21T

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140742
Gene: ENSMUSG00000099689
AA Change: A21T

Domain	Start	End	E-Value	Type
KRAB	27	87	4.95e-37	SMART
low complexity region	165	173	N/A	INTRINSIC
ZnF_C2H2	185	207	1.47e-3	SMART
ZnF_C2H2	213	235	7.15e-2	SMART
ZnF_C2H2	241	263	1.79e-2	SMART
ZnF_C2H2	269	291	4.17e-3	SMART
ZnF_C2H2	297	319	3.69e-4	SMART
ZnF_C2H2	325	347	2.27e-4	SMART
ZnF_C2H2	353	375	1.84e-4	SMART
ZnF_C2H2	381	403	6.52e-5	SMART
ZnF_C2H2	409	431	1.58e-3	SMART
ZnF_C2H2	437	459	1.69e-3	SMART
ZnF_C2H2	465	487	1.82e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000187028
AA Change: A21T

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000141019
Gene: ENSMUSG00000099689
AA Change: A21T

Domain	Start	End	E-Value	Type
KRAB	27	87	5.6e-22	SMART
low complexity region	124	142	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a KRAB-related zinc finger protein that inhibits the transcription of some MAPK signaling pathway genes. The repressor activity resides in the KRAB domain of the encoded protein. [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot13	G	A	13: 25,004,779 (GRCm39)	T62I	probably damaging	Het
Adam33	C	G	2: 130,893,266 (GRCm39)	R779P	probably benign	Het
Adgrv1	G	A	13: 81,676,760 (GRCm39)	P2024S	possibly damaging	Het
Afm	A	G	5: 90,672,675 (GRCm39)	N170S	probably damaging	Het
Ambn	G	A	5: 88,615,683 (GRCm39)	V371I	probably benign	Het
Apbb1	G	A	7: 105,223,014 (GRCm39)	P199L	probably benign	Het
Axdnd1	A	T	1: 156,220,371 (GRCm39)	C118*	probably null	Het
Carf	G	T	1: 60,183,226 (GRCm39)	V443L	probably damaging	Het
Cfap251	A	G	5: 123,402,894 (GRCm39)	D459G	probably damaging	Het
Ckap5	G	A	2: 91,436,702 (GRCm39)	A1601T	probably benign	Het
Cnot1	A	T	8: 96,478,406 (GRCm39)	I973N	probably damaging	Het
Col11a1	A	G	3: 113,890,835 (GRCm39)	T391A	unknown	Het
Cracr2a	A	T	6: 127,626,925 (GRCm39)	M569L	probably benign	Het
Cspg4	T	C	9: 56,797,474 (GRCm39)	F1313L	probably damaging	Het
Cstdc2	A	G	2: 148,688,910 (GRCm39)	S110P	probably damaging	Het
Cttnbp2	C	A	6: 18,434,289 (GRCm39)	R523L	probably damaging	Het
Cxadr	T	C	16: 78,130,407 (GRCm39)		probably null	Het
Dnah17	A	T	11: 117,995,462 (GRCm39)	M962K	probably benign	Het
Dnm1	T	C	2: 32,243,091 (GRCm39)	K44R	probably damaging	Het
Fat3	T	C	9: 15,917,924 (GRCm39)	S1500G	probably damaging	Het
Gad1	T	C	2: 70,427,603 (GRCm39)	F503S	possibly damaging	Het
Garin3	A	G	11: 46,298,631 (GRCm39)	E645G		Het
Gm20730	T	C	6: 43,058,989 (GRCm39)	I15V	probably benign	Het
Gmppb	T	G	9: 107,928,654 (GRCm39)	*361G	probably null	Het
Inpp5f	T	C	7: 128,269,367 (GRCm39)	V239A	probably damaging	Het
Irf4	A	T	13: 30,941,415 (GRCm39)	Y257F	probably benign	Het
Kcnma1	T	C	14: 23,423,324 (GRCm39)	D793G	probably benign	Het
Kif11	T	C	19: 37,373,057 (GRCm39)	V92A	probably damaging	Het
Lrriq1	T	C	10: 103,051,678 (GRCm39)	K358R	probably damaging	Het
Mcpt4	T	A	14: 56,298,141 (GRCm39)	I137F	possibly damaging	Het
Muc6	T	A	7: 141,226,638 (GRCm39)	H1358L	probably benign	Het
Mug1	A	T	6: 121,855,944 (GRCm39)	M979L	possibly damaging	Het
Mvb12a	C	A	8: 71,998,306 (GRCm39)	P175T	probably benign	Het
Myh13	A	G	11: 67,241,167 (GRCm39)	E848G	probably benign	Het
Or4c105	A	T	2: 88,647,902 (GRCm39)	H129L	probably damaging	Het
Oxnad1	T	C	14: 31,822,962 (GRCm39)	V231A	probably benign	Het
Pcdhac1	A	G	18: 37,224,009 (GRCm39)	N274S	possibly damaging	Het
Plxnc1	T	A	10: 94,630,302 (GRCm39)	K1532N	probably damaging	Het
Polr3e	A	G	7: 120,523,449 (GRCm39)	D14G	probably damaging	Het
Prex1	A	G	2: 166,415,164 (GRCm39)	F1432S	possibly damaging	Het
Prlhr	A	G	19: 60,456,293 (GRCm39)	L91P	probably damaging	Het
Prom1	C	T	5: 44,178,209 (GRCm39)	V508I	probably benign	Het
Rmnd1	T	C	10: 4,357,848 (GRCm39)	Y387C	probably damaging	Het
Sall3	T	A	18: 81,017,575 (GRCm39)	T118S	probably benign	Het
Sf3b1	A	T	1: 55,034,614 (GRCm39)	D1015E	possibly damaging	Het
Sfmbt2	A	G	2: 10,398,155 (GRCm39)	N12S	probably benign	Het
Sohlh1	A	C	2: 25,735,289 (GRCm39)	S198A	probably benign	Het
Sorbs2	T	C	8: 46,198,465 (GRCm39)	S38P	possibly damaging	Het
Spata21	G	A	4: 140,831,354 (GRCm39)	A434T	probably null	Het
Stard13	T	A	5: 151,113,489 (GRCm39)	Q24L	probably damaging	Het
Syne2	G	T	12: 76,014,230 (GRCm39)	M3140I	probably benign	Het
Tango6	T	C	8: 107,415,926 (GRCm39)		probably null	Het
Tdrd9	G	A	12: 111,999,155 (GRCm39)	G757R	probably damaging	Het
Thada	A	C	17: 84,759,265 (GRCm39)	V198G	possibly damaging	Het
Tmf1	T	C	6: 97,138,420 (GRCm39)	N833D	probably damaging	Het
Trav7-3	T	C	14: 53,681,072 (GRCm39)	M38T	probably benign	Het
Ttc38	A	C	15: 85,722,939 (GRCm39)	Q129P	possibly damaging	Het
Uox	A	T	3: 146,333,613 (GRCm39)	K271*	probably null	Het
Urgcp	A	T	11: 5,673,133 (GRCm39)	D47E	probably benign	Het
Usp17lb	A	G	7: 104,490,420 (GRCm39)	I169T	probably damaging	Het
Wdr75	T	C	1: 45,862,596 (GRCm39)	I805T	probably benign	Het
Zfp131	A	G	13: 120,250,446 (GRCm39)	F59S	probably damaging	Het
Zfp810	T	C	9: 22,190,278 (GRCm39)	Y210C	possibly damaging	Het
Zfp871	A	G	17: 32,993,826 (GRCm39)	C450R	probably damaging	Het

Other mutations in Zfp383

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
flyer	UTSW	7	29,614,152 (GRCm39)	missense	probably benign
Nonstarter	UTSW	7	29,608,071 (GRCm39)	start codon destroyed	probably null	0.01
R4796:Zfp383	UTSW	7	29,614,263 (GRCm39)	missense	possibly damaging	0.72
R5114:Zfp383	UTSW	7	29,614,166 (GRCm39)	missense	probably damaging	1.00
R5372:Zfp383	UTSW	7	29,614,695 (GRCm39)	nonsense	probably null
R5622:Zfp383	UTSW	7	29,611,615 (GRCm39)	missense	probably damaging	1.00
R5963:Zfp383	UTSW	7	29,615,103 (GRCm39)	missense	possibly damaging	0.84
R6639:Zfp383	UTSW	7	29,614,152 (GRCm39)	missense	probably benign
R6952:Zfp383	UTSW	7	29,614,380 (GRCm39)	missense	probably benign	0.00
R7067:Zfp383	UTSW	7	29,608,071 (GRCm39)	start codon destroyed	probably null	0.01
R7635:Zfp383	UTSW	7	29,614,696 (GRCm39)	missense	probably damaging	1.00
R7839:Zfp383	UTSW	7	29,614,483 (GRCm39)	missense	probably damaging	1.00
R7896:Zfp383	UTSW	7	29,611,626 (GRCm39)	missense	probably damaging	0.99
R9006:Zfp383	UTSW	7	29,608,070 (GRCm39)	start codon destroyed	probably null	0.00
R9013:Zfp383	UTSW	7	29,614,717 (GRCm39)	missense	probably damaging	1.00
R9403:Zfp383	UTSW	7	29,614,684 (GRCm39)	missense	possibly damaging	0.66
Z1186:Zfp383	UTSW	7	29,615,190 (GRCm39)	missense	probably benign
Z1186:Zfp383	UTSW	7	29,614,146 (GRCm39)	missense	probably benign
Z1186:Zfp383	UTSW	7	29,614,140 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAATTTTCTGTCCTAAGAGACCCC -3'
(R):5'- ATTCTACTAGCAGGCTGGGG -3'

Sequencing Primer
(F):5'- TGGACAACATAGGCTACATTCCTTC -3'
(R):5'- GGGGAAAGTCGCCTTACTTTTAAAG -3'

Posted On

2019-11-26