Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02622:Zfp319'

300892

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp319

Ensembl Gene

ENSMUSG00000046556

Gene Name

zinc finger protein 319

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.224) question?

Stock #

IGL02622

Quality Score

Status

Chromosome

Chromosomal Location

96052759-96058439 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 96055589 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 205 (V205F)

Ref Sequence

ENSEMBL: ENSMUSP00000053397 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034245] [ENSMUST00000057717] [ENSMUST00000126180] [ENSMUST00000162294] [ENSMUST00000213059]

AlphaFold

Q9ERR8

Predicted Effect

probably benign
Transcript: ENSMUST00000034245

SMART Domains

Protein: ENSMUSP00000034245
Gene: ENSMUSG00000031792

Domain	Start	End	E-Value	Type
Pfam:HVSL	45	265	6.3e-70	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000057717
AA Change: V205F

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000053397
Gene: ENSMUSG00000046556
AA Change: V205F

Domain	Start	End	E-Value	Type
low complexity region	6	29	N/A	INTRINSIC
low complexity region	53	64	N/A	INTRINSIC
Blast:ZnF_C2H2	75	99	6e-7	BLAST
ZnF_C2H2	103	123	7.57e1	SMART
ZnF_C2H2	131	153	8.67e-1	SMART
low complexity region	168	189	N/A	INTRINSIC
ZnF_C2H2	201	223	9.73e-4	SMART
ZnF_C2H2	229	251	1.47e-3	SMART
ZnF_C2H2	257	279	1.12e-3	SMART
ZnF_C2H2	314	336	6.42e-4	SMART
ZnF_C2H2	342	364	1.2e-3	SMART
ZnF_C2H2	370	392	8.81e-2	SMART
ZnF_C2H2	398	418	2.75e1	SMART
ZnF_C2H2	427	449	1.84e-4	SMART
ZnF_C2H2	457	477	1.27e2	SMART
ZnF_C2H2	485	507	2.79e-4	SMART
ZnF_C2H2	513	535	6.42e-4	SMART
ZnF_C2H2	541	563	4.11e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126180

SMART Domains

Protein: ENSMUSP00000122529
Gene: ENSMUSG00000031792

Domain	Start	End	E-Value	Type
Pfam:HVSL	1	113	6.4e-36	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145060

Predicted Effect

probably benign
Transcript: ENSMUST00000153991

Predicted Effect

probably benign
Transcript: ENSMUST00000162294

Predicted Effect

probably benign
Transcript: ENSMUST00000213059

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	C	T	5: 109,887,101 (GRCm39)	V32M	possibly damaging	Het
Abca1	T	C	4: 53,034,046 (GRCm39)	D2228G	probably damaging	Het
Actr5	A	G	2: 158,480,728 (GRCm39)	K582R	probably benign	Het
Armc8	T	C	9: 99,409,122 (GRCm39)		probably benign	Het
Atp7b	T	C	8: 22,518,454 (GRCm39)	D128G	possibly damaging	Het
Cemip	C	A	7: 83,613,383 (GRCm39)	G605V	probably damaging	Het
Cep112	A	G	11: 108,409,509 (GRCm39)	H133R	probably benign	Het
Cops3	C	T	11: 59,723,864 (GRCm39)	D98N	probably benign	Het
Crlf3	T	C	11: 79,950,150 (GRCm39)	D160G	probably damaging	Het
Csn1s1	T	C	5: 87,825,501 (GRCm39)		probably null	Het
Ddx60	C	A	8: 62,395,470 (GRCm39)		probably null	Het
Depdc1a	T	A	3: 159,221,147 (GRCm39)	N159K	probably benign	Het
Dsg3	A	T	18: 20,662,004 (GRCm39)		probably benign	Het
Eif4g3	A	C	4: 137,824,677 (GRCm39)		probably benign	Het
Ercc6l2	T	A	13: 64,001,437 (GRCm39)		probably null	Het
Fbxw19	T	A	9: 109,322,602 (GRCm39)	M123L	probably benign	Het
Fus	T	A	7: 127,584,794 (GRCm39)	L100H	probably damaging	Het
Gm29247	A	G	1: 44,146,269 (GRCm39)		probably benign	Het
Gucy2e	T	C	11: 69,115,857 (GRCm39)	T842A	probably damaging	Het
Inpp4a	A	T	1: 37,418,115 (GRCm39)	Q519L	probably benign	Het
Kcnip1	C	A	11: 33,593,290 (GRCm39)		probably benign	Het
Lyst	T	A	13: 13,855,975 (GRCm39)	L2432H	probably damaging	Het
Mastl	A	G	2: 23,022,857 (GRCm39)	V622A	probably benign	Het
Myh15	A	G	16: 48,997,317 (GRCm39)	T1712A	probably benign	Het
Nlrp1a	T	C	11: 71,013,826 (GRCm39)	T475A	possibly damaging	Het
Nr4a3	G	A	4: 48,051,649 (GRCm39)	M134I	probably benign	Het
Or2a56	T	G	6: 42,932,663 (GRCm39)	V77G	probably damaging	Het
Or52m1	T	A	7: 102,290,290 (GRCm39)	L279Q	probably damaging	Het
Or5p60	T	A	7: 107,723,595 (GRCm39)	I292F	probably damaging	Het
Paqr6	T	G	3: 88,273,085 (GRCm39)	I52S	probably damaging	Het
Pcdhb4	T	A	18: 37,442,721 (GRCm39)	L677Q	probably benign	Het
Phax	C	T	18: 56,717,372 (GRCm39)	R250*	probably null	Het
Pkn3	A	G	2: 29,973,158 (GRCm39)	D356G	probably benign	Het
Pnpla2	T	C	7: 141,035,285 (GRCm39)	L29P	probably damaging	Het
Rad18	G	A	6: 112,664,948 (GRCm39)	T62I	probably damaging	Het
Riok3	C	T	18: 12,276,017 (GRCm39)	R238C	probably benign	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Sccpdh	G	T	1: 179,504,025 (GRCm39)	G125W	probably damaging	Het
Skint11	T	A	4: 114,051,925 (GRCm39)	L91H	probably damaging	Het
Slc25a45	A	G	19: 5,928,725 (GRCm39)		probably benign	Het
Slco2a1	C	T	9: 102,954,128 (GRCm39)	Q370*	probably null	Het
Szt2	A	G	4: 118,250,087 (GRCm39)	S474P	probably damaging	Het
Tchh	C	A	3: 93,350,719 (GRCm39)	T53K	probably damaging	Het
Tiam1	T	C	16: 89,595,588 (GRCm39)	T1298A	possibly damaging	Het
Tmem161a	C	T	8: 70,633,887 (GRCm39)	Q183*	probably null	Het
Trim26	C	A	17: 37,161,797 (GRCm39)	A72E	probably damaging	Het
Trmt11	A	T	10: 30,435,169 (GRCm39)	I330K	probably benign	Het
Tspan1	A	G	4: 116,021,052 (GRCm39)		probably benign	Het
Ubr4	C	A	4: 139,194,561 (GRCm39)	C4286*	probably null	Het
Unc13a	T	C	8: 72,105,158 (GRCm39)		probably null	Het
Vmn1r20	T	A	6: 57,409,583 (GRCm39)	F303Y	probably damaging	Het
Washc2	T	C	6: 116,190,979 (GRCm39)		probably benign	Het
Xab2	C	T	8: 3,661,699 (GRCm39)	D585N	probably benign	Het
Ythdc2	C	T	18: 44,993,001 (GRCm39)	L791F	probably damaging	Het
Zscan25	A	T	5: 145,227,512 (GRCm39)	H392L	probably damaging	Het
Zswim6	A	T	13: 107,884,786 (GRCm39)		noncoding transcript	Het

Other mutations in Zfp319

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01611:Zfp319	APN	8	96,055,540 (GRCm39)	missense	probably benign	0.11
IGL02478:Zfp319	APN	8	96,055,721 (GRCm39)	missense	possibly damaging	0.95
IGL02563:Zfp319	APN	8	96,050,362 (GRCm39)	unclassified	probably benign
IGL02945:Zfp319	APN	8	96,050,446 (GRCm39)	unclassified	probably benign
Lanky	UTSW	8	96,054,733 (GRCm39)	frame shift	probably null
R0894:Zfp319	UTSW	8	96,056,250 (GRCm39)	unclassified	probably benign
R1898:Zfp319	UTSW	8	96,055,417 (GRCm39)	missense	probably damaging	1.00
R1937:Zfp319	UTSW	8	96,055,199 (GRCm39)	missense	probably damaging	1.00
R2127:Zfp319	UTSW	8	96,050,391 (GRCm39)	unclassified	probably benign
R2157:Zfp319	UTSW	8	96,054,659 (GRCm39)	missense	probably damaging	1.00
R2256:Zfp319	UTSW	8	96,055,129 (GRCm39)	missense	possibly damaging	0.47
R3547:Zfp319	UTSW	8	96,055,445 (GRCm39)	missense	probably damaging	0.96
R4665:Zfp319	UTSW	8	96,052,201 (GRCm39)	unclassified	probably benign
R5174:Zfp319	UTSW	8	96,054,797 (GRCm39)	splice site	probably null
R5249:Zfp319	UTSW	8	96,055,099 (GRCm39)	missense	probably benign	0.00
R5478:Zfp319	UTSW	8	96,052,193 (GRCm39)	unclassified	probably benign
R5623:Zfp319	UTSW	8	96,052,199 (GRCm39)	unclassified	probably benign
R6165:Zfp319	UTSW	8	96,054,733 (GRCm39)	frame shift	probably null
R7175:Zfp319	UTSW	8	96,055,410 (GRCm39)	missense	probably damaging	1.00
R7271:Zfp319	UTSW	8	96,058,471 (GRCm39)	unclassified	probably benign
R8303:Zfp319	UTSW	8	96,055,765 (GRCm39)	missense	probably damaging	1.00
R8734:Zfp319	UTSW	8	96,054,938 (GRCm39)	missense	possibly damaging	0.51
R9443:Zfp319	UTSW	8	96,054,922 (GRCm39)	missense	probably benign	0.00
R9550:Zfp319	UTSW	8	96,055,025 (GRCm39)	missense	probably benign	0.06

Posted On

2015-04-16