Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01062:Zfp454'

52194

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp454

Ensembl Gene

ENSMUSG00000048728

Gene Name

zinc finger protein 454

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

IGL01062

Quality Score

Status

Chromosome

Chromosomal Location

50763545-50778463 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50765033 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 22 (E22G)

Ref Sequence

ENSEMBL: ENSMUSP00000104759 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050595] [ENSMUST00000109131] [ENSMUST00000125749] [ENSMUST00000163301]

AlphaFold

Q80Y34

Predicted Effect

probably benign
Transcript: ENSMUST00000050595
AA Change: E133G

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000061824
Gene: ENSMUSG00000048728
AA Change: E133G

Domain	Start	End	E-Value	Type
KRAB	14	75	1.35e-29	SMART
ZnF_C2H2	191	213	9.73e-4	SMART
ZnF_C2H2	230	252	6.32e-3	SMART
ZnF_C2H2	258	280	2.4e-3	SMART
ZnF_C2H2	286	308	8.22e-2	SMART
ZnF_C2H2	314	336	1.33e-1	SMART
ZnF_C2H2	342	364	1.84e-4	SMART
ZnF_C2H2	370	392	9.73e-4	SMART
ZnF_C2H2	398	420	5.21e-4	SMART
ZnF_C2H2	426	448	4.87e-4	SMART
ZnF_C2H2	454	476	2.12e-4	SMART
ZnF_C2H2	482	504	1.04e-3	SMART
ZnF_C2H2	510	532	2.95e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109131
AA Change: E22G

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000104759
Gene: ENSMUSG00000048728
AA Change: E22G

Domain	Start	End	E-Value	Type
ZnF_C2H2	80	102	9.73e-4	SMART
ZnF_C2H2	119	141	6.32e-3	SMART
ZnF_C2H2	147	169	2.4e-3	SMART
ZnF_C2H2	175	197	8.22e-2	SMART
ZnF_C2H2	203	225	1.33e-1	SMART
ZnF_C2H2	231	253	1.84e-4	SMART
ZnF_C2H2	259	281	9.73e-4	SMART
ZnF_C2H2	287	309	5.21e-4	SMART
ZnF_C2H2	315	337	4.87e-4	SMART
ZnF_C2H2	343	365	2.12e-4	SMART
ZnF_C2H2	371	393	1.04e-3	SMART
ZnF_C2H2	399	421	2.95e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125749

SMART Domains

Protein: ENSMUSP00000122658
Gene: ENSMUSG00000048728

Domain	Start	End	E-Value	Type
KRAB	14	75	1.35e-29	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126718

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136599

Predicted Effect

probably benign
Transcript: ENSMUST00000163301
AA Change: E133G

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000129125
Gene: ENSMUSG00000048728
AA Change: E133G

Domain	Start	End	E-Value	Type
KRAB	14	75	1.35e-29	SMART
ZnF_C2H2	191	213	9.73e-4	SMART
ZnF_C2H2	230	252	6.32e-3	SMART
ZnF_C2H2	258	280	2.4e-3	SMART
ZnF_C2H2	286	308	8.22e-2	SMART
ZnF_C2H2	314	336	1.33e-1	SMART
ZnF_C2H2	342	364	1.84e-4	SMART
ZnF_C2H2	370	392	9.73e-4	SMART
ZnF_C2H2	398	420	5.21e-4	SMART
ZnF_C2H2	426	448	4.87e-4	SMART
ZnF_C2H2	454	476	2.12e-4	SMART
ZnF_C2H2	482	504	1.04e-3	SMART
ZnF_C2H2	510	532	2.95e-3	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aen	G	A	7: 78,557,050 (GRCm39)	M299I	probably damaging	Het
Amer3	A	G	1: 34,625,820 (GRCm39)	K20E	probably damaging	Het
Arhgap31	A	G	16: 38,421,818 (GRCm39)	L1416P	probably damaging	Het
Avpr1a	G	A	10: 122,285,434 (GRCm39)	C242Y	probably damaging	Het
Bclaf3	T	C	X: 158,336,415 (GRCm39)	Y281H	probably benign	Het
Cdc14a	T	A	3: 116,068,361 (GRCm39)		probably benign	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Cntn4	T	C	6: 106,595,239 (GRCm39)		probably benign	Het
Cyp3a44	T	A	5: 145,731,149 (GRCm39)	D217V	possibly damaging	Het
Eprs1	A	G	1: 185,111,812 (GRCm39)	E274G	probably benign	Het
Ercc6l2	G	T	13: 63,995,268 (GRCm39)	Q354H	probably null	Het
Glb1l	A	T	1: 75,177,882 (GRCm39)	I392N	probably damaging	Het
Gm3173	T	C	14: 15,728,472 (GRCm39)		probably null	Het
Hadh	C	T	3: 131,034,640 (GRCm39)	V219M	probably damaging	Het
Hspb9	A	G	11: 100,604,761 (GRCm39)	H29R	possibly damaging	Het
Iqgap3	G	T	3: 88,017,429 (GRCm39)	V240L	probably benign	Het
Jmjd1c	T	C	10: 67,062,494 (GRCm39)	S1616P	probably damaging	Het
Knl1	A	G	2: 118,907,461 (GRCm39)	I1662V	probably benign	Het
Maco1	A	T	4: 134,560,608 (GRCm39)	V125E	probably damaging	Het
Mapre3	A	G	5: 31,022,240 (GRCm39)	I236V	probably benign	Het
Med17	T	C	9: 15,190,917 (GRCm39)	E58G	probably benign	Het
Myh6	T	C	14: 55,189,749 (GRCm39)	E1099G	probably damaging	Het
Myt1	T	A	2: 181,439,522 (GRCm39)	V348D	probably damaging	Het
Nat10	A	T	2: 103,573,393 (GRCm39)	I368N	probably damaging	Het
Nol6	T	C	4: 41,118,205 (GRCm39)	I811V	probably benign	Het
Oas1d	C	A	5: 121,057,127 (GRCm39)	Y244*	probably null	Het
Or6e1	A	T	14: 54,520,181 (GRCm39)	M57K	probably damaging	Het
Osbpl1a	A	G	18: 13,038,132 (GRCm39)	V273A	probably benign	Het
Pigw	T	C	11: 84,768,769 (GRCm39)	R187G	probably benign	Het
Plekhg5	G	A	4: 152,192,953 (GRCm39)	D603N	probably damaging	Het
Ptprk	T	C	10: 28,456,414 (GRCm39)	V1058A	probably damaging	Het
Robo4	G	A	9: 37,317,296 (GRCm39)	S537N	probably benign	Het
Rptn	T	A	3: 93,304,489 (GRCm39)	F607L	probably benign	Het
Sall1	A	G	8: 89,759,972 (GRCm39)	V44A	probably damaging	Het
Sh3bp4	C	A	1: 89,071,682 (GRCm39)	Q177K	probably benign	Het
Skic3	T	A	13: 76,303,581 (GRCm39)	L1225*	probably null	Het
Spmip6	T	A	4: 41,511,433 (GRCm39)	E93D	probably damaging	Het
Srrt	C	A	5: 137,294,569 (GRCm39)	G779V	probably damaging	Het
Tamalin	A	G	15: 101,126,777 (GRCm39)		probably benign	Het
Tex21	T	C	12: 76,245,718 (GRCm39)	D526G	probably benign	Het
Vmn1r10	A	G	6: 57,090,821 (GRCm39)	S138G	possibly damaging	Het
Yars2	C	T	16: 16,124,406 (GRCm39)	R338*	probably null	Het
Zzef1	T	A	11: 72,765,795 (GRCm39)	C1441S	probably benign	Het

Other mutations in Zfp454

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01631:Zfp454	APN	11	50,774,562 (GRCm39)	missense	probably benign
R0109:Zfp454	UTSW	11	50,774,602 (GRCm39)	missense	possibly damaging	0.71
R0606:Zfp454	UTSW	11	50,765,012 (GRCm39)	missense	probably benign	0.00
R0743:Zfp454	UTSW	11	50,764,764 (GRCm39)	missense	probably benign	0.01
R0884:Zfp454	UTSW	11	50,764,764 (GRCm39)	missense	probably benign	0.01
R1181:Zfp454	UTSW	11	50,764,413 (GRCm39)	missense	probably damaging	1.00
R1377:Zfp454	UTSW	11	50,764,607 (GRCm39)	missense	probably damaging	1.00
R2126:Zfp454	UTSW	11	50,764,822 (GRCm39)	missense	probably benign	0.44
R4869:Zfp454	UTSW	11	50,763,980 (GRCm39)	missense	probably damaging	1.00
R4973:Zfp454	UTSW	11	50,764,950 (GRCm39)	missense	probably benign
R5379:Zfp454	UTSW	11	50,774,629 (GRCm39)	missense	probably damaging	0.99
R5997:Zfp454	UTSW	11	50,764,449 (GRCm39)	missense	probably damaging	1.00
R6321:Zfp454	UTSW	11	50,763,876 (GRCm39)	missense	probably damaging	0.98
R6490:Zfp454	UTSW	11	50,764,950 (GRCm39)	missense	probably benign
R6892:Zfp454	UTSW	11	50,764,025 (GRCm39)	missense	probably damaging	1.00
R7362:Zfp454	UTSW	11	50,777,194 (GRCm39)	critical splice donor site	probably null
R7650:Zfp454	UTSW	11	50,774,580 (GRCm39)	missense	probably damaging	0.98
R8671:Zfp454	UTSW	11	50,764,595 (GRCm39)	missense	possibly damaging	0.71
R9368:Zfp454	UTSW	11	50,764,537 (GRCm39)	missense	possibly damaging	0.85

Posted On

2013-06-21