Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01750:Zfp474'

153112

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp474

Ensembl Gene

ENSMUSG00000046886

Gene Name

zinc finger protein 474

Synonyms

4933409D10Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

IGL01750

Quality Score

Status

Chromosome

Chromosomal Location

52748987-52772902 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52772349 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 334 (N334S)

Ref Sequence

ENSEMBL: ENSMUSP00000147873 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072666] [ENSMUST00000209270]

AlphaFold

Q6V5K9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072666
AA Change: N334S

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000072453
Gene: ENSMUSG00000046886
AA Change: N334S

Domain	Start	End	E-Value	Type
Pfam:zf-C2HC_2	90	114	1.8e-10	PFAM
Pfam:zf-C2HC_2	161	185	3.3e-13	PFAM
Pfam:zf-C2HC_2	217	241	1.2e-10	PFAM
low complexity region	250	267	N/A	INTRINSIC
Pfam:zf-C2HC_2	280	304	1.1e-14	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209270
AA Change: N334S

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk3	A	G	7: 80,742,030 (GRCm39)	R616G	probably damaging	Het
Cacna1b	G	A	2: 24,544,407 (GRCm39)	P1260S	probably damaging	Het
Ccz1	A	T	5: 143,940,880 (GRCm39)	Y225N	probably damaging	Het
Col15a1	C	T	4: 47,303,897 (GRCm39)	P1101S	probably damaging	Het
Cyp2d22	T	A	15: 82,258,570 (GRCm39)	H97L	probably benign	Het
Emsy	G	A	7: 98,268,508 (GRCm39)	S511F	probably damaging	Het
Fnbp1l	G	T	3: 122,338,326 (GRCm39)	Y351*	probably null	Het
Gm5263	T	G	1: 146,296,302 (GRCm39)		noncoding transcript	Het
Hook2	T	C	8: 85,719,865 (GRCm39)		probably null	Het
Hrob	T	C	11: 102,145,777 (GRCm39)		probably benign	Het
Itgb4	G	A	11: 115,879,752 (GRCm39)	V635I	probably damaging	Het
Kmt2d	G	A	15: 98,751,049 (GRCm39)		probably benign	Het
Lpin1	T	C	12: 16,627,177 (GRCm39)	N123S	probably benign	Het
Man2c1	T	C	9: 57,048,064 (GRCm39)		probably null	Het
Obscn	T	C	11: 58,922,465 (GRCm39)	E6558G	probably damaging	Het
Or2j6	T	C	7: 139,980,570 (GRCm39)	T130A	probably benign	Het
Or2n1	G	T	17: 38,486,577 (GRCm39)	V201L	probably benign	Het
Or8b48	C	T	9: 38,492,809 (GRCm39)	P79S	probably damaging	Het
Pcdh7	A	G	5: 57,877,764 (GRCm39)	T440A	probably damaging	Het
Pitx1	A	G	13: 55,974,304 (GRCm39)	Y176H	probably damaging	Het
Plec	A	G	15: 76,057,589 (GRCm39)	V4116A	probably damaging	Het
Polrmt	A	G	10: 79,575,680 (GRCm39)	V617A	possibly damaging	Het
Pprc1	T	C	19: 46,060,268 (GRCm39)		probably benign	Het
Rbm19	G	A	5: 120,256,857 (GRCm39)	A57T	probably benign	Het
Rin1	T	C	19: 5,102,064 (GRCm39)	I134T	possibly damaging	Het
Thumpd2	G	A	17: 81,361,815 (GRCm39)	A137V	probably benign	Het
Tle4	T	C	19: 14,427,153 (GRCm39)	Y756C	probably damaging	Het
Tln1	A	G	4: 43,545,435 (GRCm39)	L986P	probably damaging	Het
Tmem132c	C	A	5: 127,540,023 (GRCm39)	Q350K	possibly damaging	Het

Other mutations in Zfp474

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Zfp474	APN	18	52,771,565 (GRCm39)	missense	possibly damaging	0.52
IGL01651:Zfp474	APN	18	52,771,655 (GRCm39)	missense	probably damaging	1.00
IGL02013:Zfp474	APN	18	52,771,971 (GRCm39)	missense	possibly damaging	0.86
PIT4469001:Zfp474	UTSW	18	52,771,791 (GRCm39)	missense	possibly damaging	0.77
PIT4618001:Zfp474	UTSW	18	52,771,476 (GRCm39)	missense	probably damaging	0.97
R0615:Zfp474	UTSW	18	52,771,421 (GRCm39)	missense	probably benign	0.02
R1178:Zfp474	UTSW	18	52,771,814 (GRCm39)	nonsense	probably null
R1180:Zfp474	UTSW	18	52,771,814 (GRCm39)	nonsense	probably null
R1610:Zfp474	UTSW	18	52,771,437 (GRCm39)	missense	probably benign
R1819:Zfp474	UTSW	18	52,771,872 (GRCm39)	missense	probably damaging	1.00
R4854:Zfp474	UTSW	18	52,771,503 (GRCm39)	missense	possibly damaging	0.59
R6270:Zfp474	UTSW	18	52,771,436 (GRCm39)	missense	probably benign
R7574:Zfp474	UTSW	18	52,772,261 (GRCm39)	missense	probably benign	0.00
R8194:Zfp474	UTSW	18	52,772,229 (GRCm39)	missense	probably damaging	1.00
R8799:Zfp474	UTSW	18	52,772,166 (GRCm39)	missense	probably benign	0.00
R9407:Zfp474	UTSW	18	52,771,502 (GRCm39)	missense	probably benign	0.37
R9652:Zfp474	UTSW	18	52,772,015 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-02-04