Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02043:Zfp654'

184821

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp654

Ensembl Gene

ENSMUSG00000047141

Gene Name

zinc finger protein 654

Synonyms

Gm5488, 1600021C16Rik, 1810008K20Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.723) question?

Stock #

IGL02043

Quality Score

Status

Chromosome

Chromosomal Location

64600710-64672015 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 64605391 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 396 (I396K)

Ref Sequence

ENSEMBL: ENSMUSP00000052946 (fasta)

Gene Model

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

AlphaFold

Q9DAU9

Predicted Effect

probably benign
Transcript: ENSMUST00000052588
AA Change: I396K

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

SMART Domains

Protein: ENSMUSP00000052946
Gene: ENSMUSG00000047141
AA Change: I396K

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: I937K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp1b2	T	C	11: 69,496,102 (GRCm39)	T33A	probably benign	Het
Brd2	A	T	17: 34,331,590 (GRCm39)		probably benign	Het
Carmil1	T	C	13: 24,208,299 (GRCm39)		probably benign	Het
Cdh9	A	T	15: 16,856,318 (GRCm39)	D786V	probably damaging	Het
Cep128	A	C	12: 91,233,504 (GRCm39)		probably benign	Het
Cep85	T	C	4: 133,883,038 (GRCm39)	T284A	probably benign	Het
Chrna1	C	T	2: 73,398,450 (GRCm39)	E330K	probably benign	Het
Clec2l	T	C	6: 38,653,785 (GRCm39)	Y104H	probably damaging	Het
Clybl	G	T	14: 122,616,664 (GRCm39)	K226N	probably damaging	Het
Cmip	T	A	8: 118,172,067 (GRCm39)	D467E	probably benign	Het
Cpne3	A	T	4: 19,543,340 (GRCm39)		probably null	Het
Crisp4	A	G	1: 18,204,324 (GRCm39)	V46A	probably damaging	Het
Csnk2a1	T	C	2: 152,116,070 (GRCm39)	Y261H	probably damaging	Het
Cul5	C	A	9: 53,569,973 (GRCm39)	G86V	probably benign	Het
Czib	T	G	4: 107,752,065 (GRCm39)		probably benign	Het
Depdc7	T	C	2: 104,560,626 (GRCm39)	T123A	probably benign	Het
Edem2	T	C	2: 155,547,661 (GRCm39)	T384A	probably damaging	Het
F8	C	T	X: 74,376,247 (GRCm39)	M377I	probably benign	Het
Fan1	T	A	7: 64,021,367 (GRCm39)		probably null	Het
Fez2	T	C	17: 78,689,051 (GRCm39)	D366G	probably damaging	Het
Gm4841	A	C	18: 60,404,037 (GRCm39)	S19A	probably benign	Het
Gm4862	T	A	3: 138,834,396 (GRCm39)		noncoding transcript	Het
Hk3	T	A	13: 55,162,908 (GRCm39)	Q44L	probably damaging	Het
Irgm1	C	A	11: 48,757,642 (GRCm39)	L56F	probably damaging	Het
Ldlr	A	G	9: 21,644,795 (GRCm39)	T108A	probably benign	Het
Lgr4	T	A	2: 109,841,635 (GRCm39)	M516K	probably damaging	Het
Lrp1b	T	C	2: 40,587,537 (GRCm39)	N3906S	probably null	Het
Lrrtm4	A	G	6: 79,998,845 (GRCm39)	N86D	possibly damaging	Het
Map3k2	A	G	18: 32,340,587 (GRCm39)	D198G	probably damaging	Het
Mapkapk3	C	T	9: 107,139,621 (GRCm39)		probably null	Het
Mvp	A	T	7: 126,592,790 (GRCm39)	Y374N	probably damaging	Het
Myo3a	T	C	2: 22,404,776 (GRCm39)	S711P	probably benign	Het
Myom3	A	G	4: 135,497,986 (GRCm39)	K189E	probably damaging	Het
Naip1	T	A	13: 100,563,304 (GRCm39)	K620N	probably benign	Het
Nlrp10	T	C	7: 108,524,709 (GRCm39)	E257G	probably damaging	Het
Nptn	T	G	9: 58,548,012 (GRCm39)	M139R	possibly damaging	Het
Nrk	T	G	X: 137,889,544 (GRCm39)	M1105R	possibly damaging	Het
Or10a3n	A	T	7: 108,493,046 (GRCm39)	C189*	probably null	Het
Or10d4	T	G	9: 39,580,374 (GRCm39)	V7G	probably damaging	Het
Or1q1	T	A	2: 36,887,477 (GRCm39)	Y218*	probably null	Het
Pcdhb16	A	G	18: 37,612,248 (GRCm39)	T403A	probably benign	Het
Pcyt1b	A	G	X: 92,745,722 (GRCm39)	E50G	possibly damaging	Het
Pigg	C	T	5: 108,492,190 (GRCm39)	T892I	probably damaging	Het
Ppig	T	G	2: 69,566,327 (GRCm39)		probably null	Het
Prr12	A	G	7: 44,699,429 (GRCm39)		probably benign	Het
Slc5a5	G	T	8: 71,345,073 (GRCm39)	A78E	possibly damaging	Het
Slc7a2	T	G	8: 41,364,095 (GRCm39)	M436R	probably benign	Het
Sp7	T	A	15: 102,267,690 (GRCm39)	M39L	probably benign	Het
Spag8	T	A	4: 43,653,134 (GRCm39)		probably benign	Het
Svep1	A	G	4: 58,068,556 (GRCm39)	S3077P	probably benign	Het
Tmem30a	A	T	9: 79,681,371 (GRCm39)		probably benign	Het
Tmem63a	C	T	1: 180,800,353 (GRCm39)	T714I	probably benign	Het
Trank1	T	C	9: 111,193,028 (GRCm39)	L535P	probably damaging	Het
Tuba8	A	C	6: 121,197,470 (GRCm39)	N44T	probably benign	Het
Wnk1	A	G	6: 119,926,039 (GRCm39)		probably benign	Het

Other mutations in Zfp654

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01674:Zfp654	APN	16	64,605,004 (GRCm39)	missense	probably benign	0.02
IGL02205:Zfp654	APN	16	64,606,329 (GRCm39)	missense	probably damaging	1.00
IGL02337:Zfp654	APN	16	64,605,512 (GRCm39)	missense	probably benign	0.00
IGL02398:Zfp654	APN	16	64,606,381 (GRCm39)	missense	probably benign	0.00
R0025:Zfp654	UTSW	16	64,605,181 (GRCm39)	missense	probably benign	0.31
R0025:Zfp654	UTSW	16	64,605,181 (GRCm39)	missense	probably benign	0.31
R0193:Zfp654	UTSW	16	64,606,051 (GRCm39)	missense	possibly damaging	0.76
R1276:Zfp654	UTSW	16	64,605,699 (GRCm39)	missense	probably damaging	1.00
R1851:Zfp654	UTSW	16	64,605,491 (GRCm39)	missense	probably benign	0.34
R4065:Zfp654	UTSW	16	64,606,288 (GRCm39)	missense	possibly damaging	0.87
R4872:Zfp654	UTSW	16	64,606,145 (GRCm39)	missense	probably benign	0.28
R5693:Zfp654	UTSW	16	64,606,289 (GRCm39)	missense	probably benign	0.00
R6362:Zfp654	UTSW	16	64,606,457 (GRCm39)	nonsense	probably null
R6483:Zfp654	UTSW	16	64,612,310 (GRCm39)	missense	possibly damaging	0.93
R6666:Zfp654	UTSW	16	64,606,596 (GRCm39)	missense	probably benign	0.25
R6852:Zfp654	UTSW	16	64,606,961 (GRCm39)	missense	probably damaging	1.00
R6917:Zfp654	UTSW	16	64,606,834 (GRCm39)	missense	probably damaging	0.98
R7289:Zfp654	UTSW	16	64,605,523 (GRCm39)	missense	probably benign
R7506:Zfp654	UTSW	16	64,612,211 (GRCm39)	missense	probably damaging	0.98
R7598:Zfp654	UTSW	16	64,606,297 (GRCm39)	missense	possibly damaging	0.49
R7721:Zfp654	UTSW	16	64,606,570 (GRCm39)	missense	probably damaging	1.00
R7791:Zfp654	UTSW	16	64,603,634 (GRCm39)	makesense	probably null
R7884:Zfp654	UTSW	16	64,672,011 (GRCm39)	missense	probably damaging	0.99
R7966:Zfp654	UTSW	16	64,605,239 (GRCm39)	missense	probably damaging	1.00
R8361:Zfp654	UTSW	16	64,612,220 (GRCm39)	missense	probably damaging	1.00
R8487:Zfp654	UTSW	16	64,606,011 (GRCm39)	nonsense	probably null
R8705:Zfp654	UTSW	16	64,605,433 (GRCm39)	missense	possibly damaging	0.46
R9074:Zfp654	UTSW	16	64,611,496 (GRCm39)	missense	probably damaging	0.96
Z1176:Zfp654	UTSW	16	64,606,571 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07