Mutagenetix > Incidental Mutations

Incidental Mutation 'R0018:Zfp418'

19071

Institutional Source

Beutler Lab

Gene Symbol

Zfp418

Ensembl Gene

ENSMUSG00000034538

Gene Name

zinc finger protein 418

Synonyms

A230102I05Rik

MMRRC Submission

038313-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R0018 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

7171330-7183562 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 7182450 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 471 (S471C)

Ref Sequence

ENSEMBL: ENSMUSP00000057159 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051435]

AlphaFold

Q8BFS8

Predicted Effect

probably benign
Transcript: ENSMUST00000051435
AA Change: S471C

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000057159
Gene: ENSMUSG00000034538
AA Change: S471C

Domain	Start	End	E-Value	Type
KRAB	25	78	2.58e-17	SMART
low complexity region	196	211	N/A	INTRINSIC
ZnF_C2H2	256	278	6.32e-3	SMART
ZnF_C2H2	284	306	2.57e-3	SMART
ZnF_C2H2	312	334	1.56e-2	SMART
ZnF_C2H2	340	362	1.36e-2	SMART
ZnF_C2H2	368	390	1.82e-3	SMART
ZnF_C2H2	396	418	1.04e-3	SMART
ZnF_C2H2	424	446	2.75e-3	SMART
ZnF_C2H2	452	474	4.47e-3	SMART
ZnF_C2H2	480	502	1.58e-3	SMART
ZnF_C2H2	508	530	8.6e-5	SMART
ZnF_C2H2	536	558	7.78e-3	SMART
ZnF_C2H2	564	586	1.5e-4	SMART
ZnF_C2H2	592	614	4.54e-4	SMART
ZnF_C2H2	620	642	5.59e-4	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 82.8%
3x: 76.3%
10x: 59.3%
20x: 41.5%

Validation Efficiency

90% (80/89)

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp2b4	T	A	1: 133,717,871	I982F	probably damaging	Het
BC024139	G	A	15: 76,120,887	Q592*	probably null	Het
Capn7	T	A	14: 31,354,112	C290*	probably null	Het
Celsr1	T	A	15: 86,031,042	D910V	possibly damaging	Het
Cpne2	T	A	8: 94,556,053	C59S	possibly damaging	Het
Cyp2b13	G	A	7: 26,085,950	R248H	probably benign	Het
Dennd1a	T	A	2: 37,858,460	T336S	possibly damaging	Het
Drc7	A	G	8: 95,074,234	Y628C	probably damaging	Het
Dse	A	G	10: 34,153,468	V542A	probably benign	Het
Gria4	A	G	9: 4,432,843	L780P	possibly damaging	Het
Gsx2	A	G	5: 75,077,167	K260R	probably damaging	Het
Kat6a	A	G	8: 22,929,273	D684G	possibly damaging	Het
Kif27	T	G	13: 58,288,053	I1309L	probably benign	Het
Me2	A	T	18: 73,791,852	F265I	possibly damaging	Het
Myo9a	A	T	9: 59,871,724	T1588S	probably benign	Het
Neu4	T	A	1: 94,025,338	D476E	probably benign	Het
Nlrp9c	T	A	7: 26,371,998	Q895L	possibly damaging	Het
Nudt8	C	T	19: 4,001,152		probably benign	Het
Ppfia2	A	G	10: 106,842,786		probably benign	Het
Prkdc	T	C	16: 15,726,542	Y1799H	probably benign	Het
Psmc1	T	C	12: 100,116,692		probably benign	Het
Pus3	A	G	9: 35,566,624	D384G	probably benign	Het
Rasa2	A	G	9: 96,571,963	S307P	probably damaging	Het
Rbpms2	A	G	9: 65,651,078	D142G	probably damaging	Het
Slc13a5	T	C	11: 72,266,475	I31V	probably benign	Het
Slc15a4	A	T	5: 127,602,010	I422N	probably damaging	Het
Slc26a6	G	T	9: 108,858,922		probably null	Het
Ufm1	A	T	3: 53,859,196	I79N	probably benign	Het
Xdh	C	T	17: 73,925,025	R230H	probably benign	Het

Other mutations in Zfp418

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01783:Zfp418	APN	7	7181449	missense	possibly damaging	0.72
IGL02351:Zfp418	APN	7	7174691	splice site	probably benign
IGL02358:Zfp418	APN	7	7174691	splice site	probably benign
R4355_Zfp418_487	UTSW	7	7172162	missense	probably benign	0.02
R5592_zfp418_571	UTSW	7	7181315	missense	possibly damaging	0.72
P0029:Zfp418	UTSW	7	7174637	missense	probably damaging	0.98
R0018:Zfp418	UTSW	7	7182450	missense	probably benign	0.06
R1065:Zfp418	UTSW	7	7181562	missense	probably benign	0.18
R1168:Zfp418	UTSW	7	7182501	missense	possibly damaging	0.91
R1660:Zfp418	UTSW	7	7181790	missense	probably benign	0.04
R1937:Zfp418	UTSW	7	7182402	missense	possibly damaging	0.71
R2266:Zfp418	UTSW	7	7182808	missense	probably benign	0.18
R3119:Zfp418	UTSW	7	7181689	missense	possibly damaging	0.53
R4355:Zfp418	UTSW	7	7172162	missense	probably benign	0.02
R4539:Zfp418	UTSW	7	7181277	missense	probably benign	0.18
R4735:Zfp418	UTSW	7	7182562	missense	probably damaging	0.96
R4756:Zfp418	UTSW	7	7182763	missense	possibly damaging	0.89
R4763:Zfp418	UTSW	7	7181445	missense	possibly damaging	0.53
R4810:Zfp418	UTSW	7	7182847	missense	possibly damaging	0.82
R5347:Zfp418	UTSW	7	7182535	missense	probably benign	0.40
R5592:Zfp418	UTSW	7	7181315	missense	possibly damaging	0.72
R5640:Zfp418	UTSW	7	7181981	nonsense	probably null
R5974:Zfp418	UTSW	7	7182200	missense	possibly damaging	0.95
R6209:Zfp418	UTSW	7	7182097	missense	possibly damaging	0.51
R6218:Zfp418	UTSW	7	7182628	missense	possibly damaging	0.73
R6502:Zfp418	UTSW	7	7182600	missense	possibly damaging	0.86
R6619:Zfp418	UTSW	7	7181896	missense	probably damaging	0.98
R7205:Zfp418	UTSW	7	7181563	missense	probably benign	0.33
R7299:Zfp418	UTSW	7	7182828	missense	possibly damaging	0.61
R7492:Zfp418	UTSW	7	7181397	missense	possibly damaging	0.53
R7774:Zfp418	UTSW	7	7182777	missense	possibly damaging	0.51
R7826:Zfp418	UTSW	7	7182669	missense	probably benign	0.32
R7974:Zfp418	UTSW	7	7182168	missense	possibly damaging	0.61
R8002:Zfp418	UTSW	7	7181874	missense	probably benign	0.04
R8182:Zfp418	UTSW	7	7181659	missense	probably benign	0.00
R8298:Zfp418	UTSW	7	7182815	nonsense	probably null
R8773:Zfp418	UTSW	7	7182798	missense	probably benign	0.06
R9280:Zfp418	UTSW	7	7181409	missense	possibly damaging	0.53
R9318:Zfp418	UTSW	7	7182436	missense	probably damaging	0.98
R9404:Zfp418	UTSW	7	7182105	missense	possibly damaging	0.71

Posted On

2013-03-25