Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02398:Zfp654'

291747

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp654

Ensembl Gene

ENSMUSG00000047141

Gene Name

zinc finger protein 654

Synonyms

1810008K20Rik, 1600021C16Rik

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.709) question?

Stock #

IGL02398

Quality Score

Status

Chromosome

Chromosomal Location

64780347-64851652 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64786018 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 607 (V607A)

Ref Sequence

ENSEMBL: ENSMUSP00000146656 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052588] [ENSMUST00000207826]

Predicted Effect

probably benign
Transcript: ENSMUST00000052588
AA Change: V66A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000052946
Gene: ENSMUSG00000047141
AA Change: V66A

Domain	Start	End	E-Value	Type
ZnF_C2H2	25	47	1.69e-3	SMART
low complexity region	117	132	N/A	INTRINSIC
low complexity region	150	167	N/A	INTRINSIC
ZnF_C2H2	197	222	1.25e-1	SMART
ZnF_C2H2	238	260	4.65e-1	SMART
ZnF_C2H2	266	290	4.98e-1	SMART
ZnF_C2H2	295	319	7.49e0	SMART
ZnF_C2H2	534	554	1.49e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000207826
AA Change: V607A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	T	A	17: 57,402,824	C160*	probably null	Het
Alkbh8	C	T	9: 3,345,870	P197S	possibly damaging	Het
Ankef1	A	C	2: 136,555,782	N761T	probably damaging	Het
Ankrd7	A	G	6: 18,866,697	Y72C	probably damaging	Het
Cfap36	T	G	11: 29,222,833	M231L	probably benign	Het
Cog7	A	G	7: 121,964,209	C227R	probably damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Cspg4	A	T	9: 56,886,686	E568D	probably benign	Het
Cwc27	G	A	13: 104,804,254	T199I	possibly damaging	Het
Cyp26a1	A	G	19: 37,700,019	I330V	probably benign	Het
Dcaf7	T	C	11: 106,053,753	V254A	probably benign	Het
Dhrs7	G	A	12: 72,664,692	R24C	probably damaging	Het
Ehmt2	T	A	17: 34,908,479	C838S	probably damaging	Het
Fn1	A	T	1: 71,618,670		probably null	Het
Gjb3	T	A	4: 127,326,062	S226C	probably benign	Het
Gm14496	A	G	2: 181,996,170	I346V	probably benign	Het
Gm5926	A	G	X: 32,651,386	D224G	probably damaging	Het
Gm8050	T	C	14: 6,717,330	E172G	probably damaging	Het
Higd1a	G	A	9: 121,852,524	R22W	probably damaging	Het
Hmcn1	A	G	1: 150,802,897	L491S	possibly damaging	Het
Igsf9b	T	C	9: 27,333,130	S794P	possibly damaging	Het
Irgm2	A	T	11: 58,219,929	I161F	probably damaging	Het
Lrp8	G	T	4: 107,847,494	V304F	probably damaging	Het
Lrp8	C	A	4: 107,869,048	S850R	probably damaging	Het
Lrrc9	A	T	12: 72,466,903	M513L	probably benign	Het
Myo18b	A	T	5: 112,830,312	V1248E	possibly damaging	Het
Myo1b	A	T	1: 51,757,891	N945K	probably damaging	Het
Nipbl	A	G	15: 8,327,090	L1604P	probably damaging	Het
Oas1f	A	T	5: 120,851,505	Y169F	probably benign	Het
Ogfod3	G	A	11: 121,203,025	T53I	probably benign	Het
Olfr1054	A	T	2: 86,332,524	Y277*	probably null	Het
Olfr444	A	T	6: 42,956,112	I205F	probably benign	Het
Olfr584	G	A	7: 103,086,106	C191Y	probably damaging	Het
Parp8	A	G	13: 116,910,863		probably null	Het
Pde4dip	T	C	3: 97,766,781	Y273C	probably benign	Het
Pgbd5	C	T	8: 124,384,518	A54T	probably damaging	Het
Pglyrp4	G	A	3: 90,739,117		probably benign	Het
Piezo1	A	T	8: 122,486,563	S1819R	probably benign	Het
Polr1a	T	C	6: 71,936,556		probably benign	Het
Polr1b	A	G	2: 129,102,966	I61V	probably benign	Het
Prlhr	G	T	19: 60,467,315	A271E	probably damaging	Het
Rad23b	C	T	4: 55,350,360		probably benign	Het
Rad51ap1	A	T	6: 126,928,151	S132R	probably damaging	Het
Ros1	T	A	10: 52,144,884		probably benign	Het
Ryr3	T	C	2: 112,847,422	D1327G	probably benign	Het
Slit1	A	C	19: 41,602,237	V1332G	probably damaging	Het
Tmem178b	A	G	6: 40,207,527	M120V	probably damaging	Het
Trim25	T	C	11: 88,999,804	C106R	probably damaging	Het
Trim35	A	G	14: 66,309,248	Y488C	probably damaging	Het
Tsc2	A	T	17: 24,621,729	H326Q	probably damaging	Het
Yap1	A	T	9: 7,950,535	I315K	probably benign	Het

Other mutations in Zfp654

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01674:Zfp654	APN	16	64784641	missense	probably benign	0.02
IGL02043:Zfp654	APN	16	64785028	missense	probably benign	0.00
IGL02205:Zfp654	APN	16	64785966	missense	probably damaging	1.00
IGL02337:Zfp654	APN	16	64785149	missense	probably benign	0.00
R0025:Zfp654	UTSW	16	64784818	missense	probably benign	0.31
R0025:Zfp654	UTSW	16	64784818	missense	probably benign	0.31
R0193:Zfp654	UTSW	16	64785688	missense	possibly damaging	0.76
R1276:Zfp654	UTSW	16	64785336	missense	probably damaging	1.00
R1851:Zfp654	UTSW	16	64785128	missense	probably benign	0.34
R4065:Zfp654	UTSW	16	64785925	missense	possibly damaging	0.87
R4872:Zfp654	UTSW	16	64785782	missense	probably benign	0.28
R5693:Zfp654	UTSW	16	64785926	missense	probably benign	0.00
R6362:Zfp654	UTSW	16	64786094	nonsense	probably null
R6483:Zfp654	UTSW	16	64791947	missense	possibly damaging	0.93
R6666:Zfp654	UTSW	16	64786233	missense	probably benign	0.25
R6852:Zfp654	UTSW	16	64786598	missense	probably damaging	1.00
R6917:Zfp654	UTSW	16	64786471	missense	probably damaging	0.98
R7289:Zfp654	UTSW	16	64785160	missense	probably benign
R7506:Zfp654	UTSW	16	64791848	missense	probably damaging	0.98
R7598:Zfp654	UTSW	16	64785934	missense	possibly damaging	0.49
R7721:Zfp654	UTSW	16	64786207	missense	probably damaging	1.00

Posted On

2015-04-16