Mutagenetix > Incidental Mutation

Incidental Mutation 'R0018:Zfp418'

177874

Institutional Source

Beutler Lab

Gene Symbol

Zfp418

Ensembl Gene

ENSMUSG00000034538

Gene Name

zinc finger protein 418

Synonyms

A230102I05Rik

MMRRC Submission

038313-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R0018 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

7174352-7186559 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 7185449 bp (GRCm39)

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: 99.4%
3x: 99.0%
10x: 97.9%
20x: 96.6%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,532,162 (GRCm39)		probably null	Het
Afp	A	C	5: 90,654,600 (GRCm39)	Q546P	probably damaging	Het
Api5	A	T	2: 94,251,329 (GRCm39)		probably null	Het
Atp2b4	T	A	1: 133,645,609 (GRCm39)	I982F	probably damaging	Het
BC024139	G	A	15: 76,005,087 (GRCm39)	Q592*	probably null	Het
Capn7	T	A	14: 31,076,069 (GRCm39)	C290*	probably null	Het
Ccn1	A	G	3: 145,355,186 (GRCm39)	L23P	probably damaging	Het
Celsr1	T	A	15: 85,915,243 (GRCm39)	D910V	possibly damaging	Het
Chga	T	C	12: 102,524,764 (GRCm39)	S45P	probably damaging	Het
Cpne2	T	A	8: 95,282,681 (GRCm39)	C59S	possibly damaging	Het
Cyp2b13	G	A	7: 25,785,375 (GRCm39)	R248H	probably benign	Het
Dennd1a	T	A	2: 37,748,472 (GRCm39)	T336S	possibly damaging	Het
Drc7	A	G	8: 95,800,862 (GRCm39)	Y628C	probably damaging	Het
Dse	A	G	10: 34,029,464 (GRCm39)	V542A	probably benign	Het
Dspp	A	T	5: 104,326,096 (GRCm39)	S820C	unknown	Het
Efcab3	G	A	11: 104,612,378 (GRCm39)		probably null	Het
Eif5b	T	C	1: 38,057,970 (GRCm39)	S91P	unknown	Het
Epop	A	G	11: 97,519,017 (GRCm39)	V364A	probably benign	Het
Ext2	G	A	2: 93,626,037 (GRCm39)	P341L	probably damaging	Het
Galns	T	C	8: 123,311,724 (GRCm39)	T429A	probably benign	Het
Gsx2	A	G	5: 75,237,828 (GRCm39)	K260R	probably damaging	Het
H2-M10.6	A	C	17: 37,124,941 (GRCm39)	H286P	probably damaging	Het
Hectd4	A	G	5: 121,392,242 (GRCm39)	N169D	possibly damaging	Het
Helz2	C	A	2: 180,874,552 (GRCm39)	G1981C	probably damaging	Het
Hmcn1	T	C	1: 150,528,302 (GRCm39)	D3282G	probably benign	Het
Hnmt	T	A	2: 23,893,640 (GRCm39)	N285Y	possibly damaging	Het
Hr	A	G	14: 70,795,717 (GRCm39)	R450G	probably benign	Het
Kat6a	A	G	8: 23,419,289 (GRCm39)	D684G	possibly damaging	Het
Kif27	T	G	13: 58,435,867 (GRCm39)	I1309L	probably benign	Het
Mab21l4	T	A	1: 93,082,327 (GRCm39)	D264V	probably benign	Het
Man2b1	T	A	8: 85,824,118 (GRCm39)	V1005E	probably damaging	Het
Me2	A	T	18: 73,924,923 (GRCm39)	F265I	possibly damaging	Het
Myo9a	A	T	9: 59,779,007 (GRCm39)	T1588S	probably benign	Het
Neu4	T	A	1: 93,953,060 (GRCm39)	D476E	probably benign	Het
Nlrp9c	T	A	7: 26,071,423 (GRCm39)	Q895L	possibly damaging	Het
Or1e35	T	C	11: 73,797,452 (GRCm39)	I289V	probably damaging	Het
Or1p1c	A	C	11: 74,160,934 (GRCm39)	T240P	probably benign	Het
Pdzd8	C	T	19: 59,289,105 (GRCm39)	R765H	probably damaging	Het
Plk1	T	C	7: 121,768,208 (GRCm39)		probably null	Het
Ppfia2	A	G	10: 106,678,647 (GRCm39)		probably benign	Het
Prkdc	T	C	16: 15,544,406 (GRCm39)	Y1799H	probably benign	Het
Psmc1	T	C	12: 100,082,951 (GRCm39)		probably benign	Het
Ptchd3	A	C	11: 121,733,170 (GRCm39)	I687L	probably benign	Het
Ptprh	A	G	7: 4,604,845 (GRCm39)		probably null	Het
Pus3	A	G	9: 35,477,920 (GRCm39)	D384G	probably benign	Het
Rab44	C	T	17: 29,358,354 (GRCm39)	P181S	probably benign	Het
Rasa2	A	G	9: 96,454,016 (GRCm39)	S307P	probably damaging	Het
Rbpms2	A	G	9: 65,558,360 (GRCm39)	D142G	probably damaging	Het
Reln	A	T	5: 22,130,369 (GRCm39)	D2647E	probably benign	Het
Ryr2	G	A	13: 11,610,109 (GRCm39)	T4239I	possibly damaging	Het
Sctr	C	A	1: 119,971,286 (GRCm39)		probably benign	Het
Serpinb6e	A	T	13: 34,021,828 (GRCm39)	Y167N	probably damaging	Het
Slc13a5	T	C	11: 72,157,301 (GRCm39)	I31V	probably benign	Het
Slc15a4	A	T	5: 127,679,074 (GRCm39)	I422N	probably damaging	Het
Stk24	G	A	14: 121,545,419 (GRCm39)		probably benign	Het
Vmn1r213	T	A	13: 23,196,311 (GRCm39)	V298D	probably damaging	Het
Xdh	C	T	17: 74,232,020 (GRCm39)	R230H	probably benign	Het

Other mutations in Zfp418

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01783:Zfp418	APN	7	7,184,448 (GRCm39)	missense	possibly damaging	0.72
IGL02351:Zfp418	APN	7	7,177,690 (GRCm39)	splice site	probably benign
IGL02358:Zfp418	APN	7	7,177,690 (GRCm39)	splice site	probably benign
R4355_Zfp418_487	UTSW	7	7,175,161 (GRCm39)	missense	probably benign	0.02
R5592_zfp418_571	UTSW	7	7,184,314 (GRCm39)	missense	possibly damaging	0.72
P0029:Zfp418	UTSW	7	7,177,636 (GRCm39)	missense	probably damaging	0.98
R0018:Zfp418	UTSW	7	7,185,449 (GRCm39)	missense	probably benign	0.06
R1065:Zfp418	UTSW	7	7,184,561 (GRCm39)	missense	probably benign	0.18
R1168:Zfp418	UTSW	7	7,185,500 (GRCm39)	missense	possibly damaging	0.91
R1660:Zfp418	UTSW	7	7,184,789 (GRCm39)	missense	probably benign	0.04
R1937:Zfp418	UTSW	7	7,185,401 (GRCm39)	missense	possibly damaging	0.71
R2266:Zfp418	UTSW	7	7,185,807 (GRCm39)	missense	probably benign	0.18
R3119:Zfp418	UTSW	7	7,184,688 (GRCm39)	missense	possibly damaging	0.53
R4355:Zfp418	UTSW	7	7,175,161 (GRCm39)	missense	probably benign	0.02
R4539:Zfp418	UTSW	7	7,184,276 (GRCm39)	missense	probably benign	0.18
R4735:Zfp418	UTSW	7	7,185,561 (GRCm39)	missense	probably damaging	0.96
R4756:Zfp418	UTSW	7	7,185,762 (GRCm39)	missense	possibly damaging	0.89
R4763:Zfp418	UTSW	7	7,184,444 (GRCm39)	missense	possibly damaging	0.53
R4810:Zfp418	UTSW	7	7,185,846 (GRCm39)	missense	possibly damaging	0.82
R5347:Zfp418	UTSW	7	7,185,534 (GRCm39)	missense	probably benign	0.40
R5592:Zfp418	UTSW	7	7,184,314 (GRCm39)	missense	possibly damaging	0.72
R5640:Zfp418	UTSW	7	7,184,980 (GRCm39)	nonsense	probably null
R5974:Zfp418	UTSW	7	7,185,199 (GRCm39)	missense	possibly damaging	0.95
R6209:Zfp418	UTSW	7	7,185,096 (GRCm39)	missense	possibly damaging	0.51
R6218:Zfp418	UTSW	7	7,185,627 (GRCm39)	missense	possibly damaging	0.73
R6502:Zfp418	UTSW	7	7,185,599 (GRCm39)	missense	possibly damaging	0.86
R6619:Zfp418	UTSW	7	7,184,895 (GRCm39)	missense	probably damaging	0.98
R7205:Zfp418	UTSW	7	7,184,562 (GRCm39)	missense	probably benign	0.33
R7299:Zfp418	UTSW	7	7,185,827 (GRCm39)	missense	possibly damaging	0.61
R7492:Zfp418	UTSW	7	7,184,396 (GRCm39)	missense	possibly damaging	0.53
R7774:Zfp418	UTSW	7	7,185,776 (GRCm39)	missense	possibly damaging	0.51
R7826:Zfp418	UTSW	7	7,185,668 (GRCm39)	missense	probably benign	0.32
R7974:Zfp418	UTSW	7	7,185,167 (GRCm39)	missense	possibly damaging	0.61
R8002:Zfp418	UTSW	7	7,184,873 (GRCm39)	missense	probably benign	0.04
R8182:Zfp418	UTSW	7	7,184,658 (GRCm39)	missense	probably benign	0.00
R8298:Zfp418	UTSW	7	7,185,814 (GRCm39)	nonsense	probably null
R8773:Zfp418	UTSW	7	7,185,797 (GRCm39)	missense	probably benign	0.06
R9280:Zfp418	UTSW	7	7,184,408 (GRCm39)	missense	possibly damaging	0.53
R9318:Zfp418	UTSW	7	7,185,435 (GRCm39)	missense	probably damaging	0.98
R9404:Zfp418	UTSW	7	7,185,104 (GRCm39)	missense	possibly damaging	0.71
R9648:Zfp418	UTSW	7	7,185,171 (GRCm39)	missense	probably benign	0.29

Predicted Primers

PCR Primer
(F):5'- GCCTTCGGGTGCCATTCTAGTC -3'
(R):5'- CGTTCCCCAGTGTGAATTCTTCTGT -3'

Sequencing Primer
(F):5'- tcagagaacacacacaggag -3'
(R):5'- ggctaaaacacttcccacac -3'

Posted On

2014-04-30