Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01384:Zfp428'

78978

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp428

Ensembl Gene

ENSMUSG00000064264

Gene Name

zinc finger protein 428

Synonyms

2410005H09Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.165) question?

Stock #

IGL01384

Quality Score

Status

Chromosome

Chromosomal Location

24206431-24215107 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24210167 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 22 (D22G)

Ref Sequence

ENSEMBL: ENSMUSP00000135601 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071361] [ENSMUST00000176880] [ENSMUST00000177205] [ENSMUST00000177228]

AlphaFold

Q8C1M2

Predicted Effect

probably benign
Transcript: ENSMUST00000071361
AA Change: D22G

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000071318
Gene: ENSMUSG00000064264
AA Change: D22G

Domain	Start	End	E-Value	Type
low complexity region	15	45	N/A	INTRINSIC
low complexity region	55	70	N/A	INTRINSIC
low complexity region	120	134	N/A	INTRINSIC
low complexity region	138	147	N/A	INTRINSIC
ZnF_C2H2	149	171	2.67e-1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176880
AA Change: D22G

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000135601
Gene: ENSMUSG00000064264
AA Change: D22G

Domain	Start	End	E-Value	Type
low complexity region	38	58	N/A	INTRINSIC
low complexity region	68	83	N/A	INTRINSIC
low complexity region	133	147	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177205
AA Change: D22G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000135750
Gene: ENSMUSG00000064264
AA Change: D22G

Domain	Start	End	E-Value	Type
low complexity region	38	58	N/A	INTRINSIC
low complexity region	68	83	N/A	INTRINSIC
low complexity region	133	147	N/A	INTRINSIC
low complexity region	151	160	N/A	INTRINSIC
ZnF_C2H2	162	184	2.67e-1	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000177228
AA Change: T4A

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	G	2: 68,575,749 (GRCm39)	R683G	possibly damaging	Het
Abca9	A	G	11: 110,036,463 (GRCm39)	S549P	probably damaging	Het
Adgrd1	T	C	5: 129,174,273 (GRCm39)	S17P	possibly damaging	Het
Ankrd36	C	A	11: 5,578,348 (GRCm39)	H546N	probably benign	Het
Aopep	C	T	13: 63,338,290 (GRCm39)		probably benign	Het
Bivm	T	G	1: 44,165,907 (GRCm39)	I119S	possibly damaging	Het
Ccdc88a	G	T	11: 29,453,915 (GRCm39)	D1693Y	probably damaging	Het
Clcn6	G	A	4: 148,103,423 (GRCm39)	R242C	probably damaging	Het
Clec4a2	A	C	6: 123,104,947 (GRCm39)	K79T	probably damaging	Het
Cspp1	G	A	1: 10,186,905 (GRCm39)	R129H	probably damaging	Het
Cyp2c40	A	T	19: 39,801,027 (GRCm39)	M47K	probably benign	Het
Dmxl1	A	G	18: 49,990,401 (GRCm39)	D280G	probably benign	Het
Fbxo38	A	G	18: 62,655,487 (GRCm39)	S400P	probably damaging	Het
Fsd1	C	T	17: 56,303,733 (GRCm39)	S491F	probably damaging	Het
Gen1	T	C	12: 11,305,242 (GRCm39)	I184M	probably benign	Het
Gm9949	A	T	18: 62,317,089 (GRCm39)		probably benign	Het
Grtp1	A	T	8: 13,229,629 (GRCm39)	V253E	probably damaging	Het
Irag1	A	G	7: 110,525,708 (GRCm39)	V148A	possibly damaging	Het
Lamb1	T	A	12: 31,370,930 (GRCm39)	M1327K	probably benign	Het
Lrp2	T	A	2: 69,313,846 (GRCm39)	D2295V	probably damaging	Het
Lrp2	T	C	2: 69,284,156 (GRCm39)	D3874G	probably null	Het
Muc5b	A	T	7: 141,400,555 (GRCm39)	I509F	unknown	Het
Mug1	A	C	6: 121,826,433 (GRCm39)		probably benign	Het
Myh7	A	T	14: 55,208,916 (GRCm39)	L1903Q	probably damaging	Het
Mylk	G	T	16: 34,759,322 (GRCm39)	A1229S	probably benign	Het
Myorg	G	T	4: 41,498,151 (GRCm39)	A493E	probably damaging	Het
Ncam1	A	T	9: 49,421,152 (GRCm39)	I721N	possibly damaging	Het
Or8b101	T	A	9: 38,020,858 (GRCm39)	I287N	probably damaging	Het
Pla2g2c	A	G	4: 138,471,012 (GRCm39)	K131R	probably benign	Het
Rpgrip1l	A	T	8: 92,000,268 (GRCm39)	I557N	probably benign	Het
Sirpb1b	T	A	3: 15,613,789 (GRCm39)	N98Y	probably damaging	Het
Stab1	A	G	14: 30,872,365 (GRCm39)	V1182A	probably benign	Het
Tagap1	T	C	17: 7,224,282 (GRCm39)	D138G	probably benign	Het
Tiam2	T	A	17: 3,477,477 (GRCm39)	F567I	probably benign	Het
Ush2a	A	T	1: 188,285,425 (GRCm39)	D1987V	possibly damaging	Het
Vmn1r36	A	T	6: 66,693,446 (GRCm39)	I37N	probably damaging	Het
Wif1	A	T	10: 120,920,855 (GRCm39)	T226S	possibly damaging	Het
Zfp521	A	T	18: 13,976,980 (GRCm39)	N1144K	probably benign	Het

Other mutations in Zfp428

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4340:Zfp428	UTSW	7	24,214,506 (GRCm39)	missense	probably damaging	1.00
FR4342:Zfp428	UTSW	7	24,214,506 (GRCm39)	missense	probably damaging	1.00
R0595:Zfp428	UTSW	7	24,214,803 (GRCm39)	missense	probably benign	0.27
R5070:Zfp428	UTSW	7	24,214,550 (GRCm39)	missense	probably damaging	1.00
R6768:Zfp428	UTSW	7	24,214,908 (GRCm39)	missense	probably damaging	1.00
R7246:Zfp428	UTSW	7	24,215,069 (GRCm39)	splice site	probably null
R9553:Zfp428	UTSW	7	24,214,866 (GRCm39)	missense	possibly damaging	0.66

Posted On

2013-11-05