Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02284:Zfp579'

289930

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp579

Ensembl Gene

ENSMUSG00000051550

Gene Name

zinc finger protein 579

Synonyms

1110003A17Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02284

Quality Score

Status

Chromosome

Chromosomal Location

4995851-4999100 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4997167 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 248 (L248Q)

Ref Sequence

ENSEMBL: ENSMUSP00000123963 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108572] [ENSMUST00000162502] [ENSMUST00000162731]

AlphaFold

Q80VM4

Predicted Effect

probably damaging
Transcript: ENSMUST00000108572
AA Change: L248Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104212
Gene: ENSMUSG00000051550
AA Change: L248Q

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
low complexity region	16	44	N/A	INTRINSIC
ZnF_C2H2	46	68	8.09e-1	SMART
ZnF_C2H2	74	96	2.4e-3	SMART
ZnF_C2H2	102	125	3.83e-2	SMART
low complexity region	157	170	N/A	INTRINSIC
low complexity region	189	216	N/A	INTRINSIC
low complexity region	250	262	N/A	INTRINSIC
ZnF_C2H2	267	289	1.36e-2	SMART
ZnF_C2H2	295	317	5.14e-3	SMART
low complexity region	318	368	N/A	INTRINSIC
ZnF_C2H2	382	404	4.34e0	SMART
ZnF_C2H2	410	432	5.06e-2	SMART
ZnF_C2H2	439	461	1.92e-2	SMART
low complexity region	462	492	N/A	INTRINSIC
low complexity region	511	525	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159754

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160225

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160808

Predicted Effect

probably benign
Transcript: ENSMUST00000162502

SMART Domains

Protein: ENSMUSP00000124074
Gene: ENSMUSG00000051550

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
low complexity region	16	44	N/A	INTRINSIC
ZnF_C2H2	46	68	8.09e-1	SMART
ZnF_C2H2	74	96	2.4e-3	SMART
ZnF_C2H2	102	125	3.83e-2	SMART
low complexity region	157	170	N/A	INTRINSIC
coiled coil region	190	213	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000162731
AA Change: L248Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123963
Gene: ENSMUSG00000051550
AA Change: L248Q

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
low complexity region	16	44	N/A	INTRINSIC
ZnF_C2H2	46	68	8.09e-1	SMART
ZnF_C2H2	74	96	2.4e-3	SMART
ZnF_C2H2	102	125	3.83e-2	SMART
low complexity region	157	170	N/A	INTRINSIC
low complexity region	189	216	N/A	INTRINSIC
low complexity region	250	262	N/A	INTRINSIC
ZnF_C2H2	267	289	1.36e-2	SMART
ZnF_C2H2	295	317	5.14e-3	SMART
low complexity region	318	368	N/A	INTRINSIC
ZnF_C2H2	382	404	4.34e0	SMART
ZnF_C2H2	410	432	5.06e-2	SMART
ZnF_C2H2	439	461	1.92e-2	SMART
low complexity region	462	492	N/A	INTRINSIC
low complexity region	511	525	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cyp3a41a	A	G	5: 145,641,673 (GRCm39)		probably benign	Het
Cyp3a44	G	A	5: 145,725,179 (GRCm39)	P341S	possibly damaging	Het
Dpp10	T	C	1: 123,973,103 (GRCm39)		probably benign	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Gp2	A	G	7: 119,049,406 (GRCm39)	L377P	probably damaging	Het
Hrob	T	C	11: 102,146,422 (GRCm39)	C233R	probably benign	Het
Pttg1ip	T	C	10: 77,423,096 (GRCm39)	Y11H	probably benign	Het
Rasa4	T	A	5: 136,130,545 (GRCm39)		probably null	Het
Sbf1	G	A	15: 89,189,281 (GRCm39)	P480L	probably damaging	Het
Setd1b	T	A	5: 123,301,491 (GRCm39)	F16L	possibly damaging	Het
Srsf3	G	T	17: 29,255,431 (GRCm39)		probably benign	Het
Svep1	A	T	4: 58,072,819 (GRCm39)	F2163L	probably benign	Het
Vmn2r73	T	A	7: 85,507,123 (GRCm39)	I730F	possibly damaging	Het

Other mutations in Zfp579

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00971:Zfp579	APN	7	4,996,390 (GRCm39)	missense	probably damaging	0.97
IGL01121:Zfp579	APN	7	4,996,246 (GRCm39)	missense	possibly damaging	0.59
IGL01475:Zfp579	APN	7	4,997,743 (GRCm39)	missense	probably benign	0.32
IGL01866:Zfp579	APN	7	4,997,257 (GRCm39)	missense	possibly damaging	0.88
IGL02313:Zfp579	APN	7	4,997,432 (GRCm39)	missense	probably benign	0.23
R1803:Zfp579	UTSW	7	4,996,769 (GRCm39)	missense	probably damaging	1.00
R2025:Zfp579	UTSW	7	4,996,520 (GRCm39)	nonsense	probably null
R2026:Zfp579	UTSW	7	4,996,520 (GRCm39)	nonsense	probably null
R2027:Zfp579	UTSW	7	4,996,520 (GRCm39)	nonsense	probably null
R3690:Zfp579	UTSW	7	4,997,719 (GRCm39)	missense	probably damaging	0.99
R4303:Zfp579	UTSW	7	4,996,072 (GRCm39)	utr 3 prime	probably benign
R6680:Zfp579	UTSW	7	4,996,501 (GRCm39)	missense	probably damaging	0.99
R6826:Zfp579	UTSW	7	4,997,425 (GRCm39)	missense	probably benign	0.01
R6869:Zfp579	UTSW	7	4,997,460 (GRCm39)	missense	probably benign	0.00
R7304:Zfp579	UTSW	7	4,997,582 (GRCm39)	missense	probably benign	0.22
R8220:Zfp579	UTSW	7	4,996,850 (GRCm39)	missense	probably benign	0.15
R8328:Zfp579	UTSW	7	4,997,866 (GRCm39)	missense	unknown
X0028:Zfp579	UTSW	7	4,996,932 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16