Mutagenetix > Incidental Mutation

Incidental Mutation 'R9403:Zfp383'

711341

Institutional Source

Beutler Lab

Gene Symbol

Zfp383

Ensembl Gene

ENSMUSG00000099689

Gene Name

zinc finger protein 383

Synonyms

1110003H10Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R9403 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29607705-29616238 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29614684 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 313 (F313S)

Ref Sequence

ENSEMBL: ENSMUSP00000140742 (fasta)

Gene Model

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

AlphaFold

A0A087WRR7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000186475
AA Change: F313S

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000140742
Gene: ENSMUSG00000099689
AA Change: F313S

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

probably benign
Transcript: ENSMUST00000187028

SMART Domains

Protein: ENSMUSP00000141019
Gene: ENSMUSG00000099689

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: 99.7%
20x: 99.0%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angpt4	C	T	2: 151,780,892 (GRCm39)	T380M	probably damaging	Het
Apoa5	G	C	9: 46,181,944 (GRCm39)	R340P	probably damaging	Het
Cyp3a41a	T	A	5: 145,639,008 (GRCm39)	Y320F	probably damaging	Het
Dmtf1	A	G	5: 9,171,927 (GRCm39)	L503S	possibly damaging	Het
Dock1	T	C	7: 134,770,125 (GRCm39)	V1795A	probably benign	Het
Dpys	C	G	15: 39,691,467 (GRCm39)	W285S	probably damaging	Het
Fam187b	T	C	7: 30,676,515 (GRCm39)	V8A		Het
Fbn2	T	C	18: 58,199,179 (GRCm39)	E1363G	probably damaging	Het
Glg1	C	T	8: 111,914,425 (GRCm39)	R453Q	probably benign	Het
Gm5591	T	A	7: 38,219,572 (GRCm39)	M434L	probably benign	Het
Gm5591	T	C	7: 38,221,680 (GRCm39)	T130A	probably damaging	Het
Gpld1	G	A	13: 25,163,712 (GRCm39)	V502I	probably benign	Het
Inhba	A	G	13: 16,191,966 (GRCm39)	H29R	probably benign	Het
Itga4	T	A	2: 79,156,004 (GRCm39)	I990N	possibly damaging	Het
Kcnma1	T	A	14: 23,593,145 (GRCm39)	I280L	probably benign	Het
Malrd1	T	C	2: 15,618,988 (GRCm39)	V284A		Het
Maml2	C	T	9: 13,532,969 (GRCm39)	Q728*	probably null	Het
Mkln1	T	C	6: 31,409,905 (GRCm39)	L181P	probably damaging	Het
Mms22l	T	C	4: 24,580,204 (GRCm39)		probably null	Het
Muc16	A	G	9: 18,449,060 (GRCm39)		probably null	Het
Mylk	C	A	16: 34,696,012 (GRCm39)	S249*	probably null	Het
Naa35	G	A	13: 59,748,817 (GRCm39)	A150T	possibly damaging	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Nup205	G	A	6: 35,176,909 (GRCm39)	R635H	probably benign	Het
Nup50l	T	G	6: 96,142,280 (GRCm39)	T255P	probably benign	Het
Or2w1	T	C	13: 21,317,865 (GRCm39)	F307L	probably benign	Het
Or4l1	T	C	14: 50,166,906 (GRCm39)	T32A	probably benign	Het
Padi3	T	C	4: 140,537,843 (GRCm39)	I26V	probably benign	Het
Polq	T	C	16: 36,882,215 (GRCm39)	S1460P	probably benign	Het
Ptgdr	A	G	14: 45,090,715 (GRCm39)	S348P		Het
Qsox1	A	G	1: 155,658,343 (GRCm39)	S409P	probably damaging	Het
Rergl	T	A	6: 139,471,852 (GRCm39)	Y99F	possibly damaging	Het
Rptn	C	A	3: 93,302,349 (GRCm39)	H22N	probably benign	Het
Semp2l2b	C	T	10: 21,943,840 (GRCm39)	D47N	possibly damaging	Het
Sh2b1	ACCAGCTCAGCCACGGGG	ACCAGCTCAGCCACGGGGCCCAGCTCAGCCACGGGG	7: 126,066,747 (GRCm39)		probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sh2b1	GGACCAGCTCAG	GGACCAGCTCAGTCACGGTGACCAGCTCAG	7: 126,066,745 (GRCm39)		probably null	Het
Slc2a3	A	C	6: 122,713,569 (GRCm39)	I214M	probably damaging	Het
Slc5a7	A	T	17: 54,583,669 (GRCm39)	N540K	probably benign	Het
Slco6c1	A	T	1: 96,990,248 (GRCm39)	S664R	possibly damaging	Het
Tgm4	C	A	9: 122,881,837 (GRCm39)	S344R	probably damaging	Het
Trim61	T	A	8: 65,467,228 (GRCm39)	Q11L	probably damaging	Het
Trpm6	C	A	19: 18,810,016 (GRCm39)	D1137E	possibly damaging	Het
Txndc2	G	A	17: 65,944,992 (GRCm39)	T395I	probably damaging	Het
Txndc9	T	C	1: 38,034,859 (GRCm39)	E15G	probably benign	Het
Vcpip1	A	G	1: 9,816,049 (GRCm39)	I778T	possibly 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
R7809:Zfp383	UTSW	7	29,609,661 (GRCm39)	missense	possibly damaging	0.86
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
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'- CCACATTCTTTCAGCAGACCT -3'
(R):5'- CAGCTATGGGGCTTGTCAT -3'

Sequencing Primer
(F):5'- CACTGGTGAAAAGCCCTTTG -3'
(R):5'- AAAGGTTTCTCGCCAGCATG -3'

Posted On

2022-05-16