Mutagenetix > Incidental Mutation

Incidental Mutation 'R8328:Zfp579'

644202

Institutional Source

Beutler Lab

Gene Symbol

Zfp579

Ensembl Gene

ENSMUSG00000051550

Gene Name

zinc finger protein 579

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8328 (G1)

Quality Score

195.009

Status

Not validated

Chromosome

Chromosomal Location

4983483-4996158 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 4994867 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 15 (H15P)

Ref Sequence

ENSEMBL: ENSMUSP00000104212 (fasta)

Gene Model

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

AlphaFold

Q80VM4

Predicted Effect

unknown
Transcript: ENSMUST00000108572
AA Change: H15P

SMART Domains

Protein: ENSMUSP00000104212
Gene: ENSMUSG00000051550
AA Change: H15P

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

unknown
Transcript: ENSMUST00000162502
AA Change: H15P

SMART Domains

Protein: ENSMUSP00000124074
Gene: ENSMUSG00000051550
AA Change: H15P

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

unknown
Transcript: ENSMUST00000162731
AA Change: H15P

SMART Domains

Protein: ENSMUSP00000123963
Gene: ENSMUSG00000051550
AA Change: H15P

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	A	T	6: 92,890,012	M682K	probably benign	Het
Ankdd1b	T	A	13: 96,454,866	I42F	possibly damaging	Het
Ankrd6	C	T	4: 32,810,215	E489K	probably benign	Het
Arhgef28	A	T	13: 98,051,009	H259Q	possibly damaging	Het
C3	T	C	17: 57,220,973	S749G	probably benign	Het
Celsr1	A	G	15: 85,922,244	S2338P	probably benign	Het
Ces2a	A	T	8: 104,737,366	N210I	probably damaging	Het
Cuzd1	A	T	7: 131,311,616	V424D	probably damaging	Het
Cyp2j11	T	A	4: 96,348,368	H67L	probably benign	Het
Dennd5b	A	G	6: 149,020,617	S800P	probably damaging	Het
Dmrta2	G	T	4: 109,980,009	L49F	unknown	Het
Dpy19l1	T	A	9: 24,475,390	K9*	probably null	Het
Dsc2	T	C	18: 20,032,519	H843R	possibly damaging	Het
Dsg1b	T	A	18: 20,376,950	F6I	probably benign	Het
Fam214b	T	C	4: 43,034,751	T323A	probably benign	Het
Gm13084	A	G	4: 143,810,810	L317P	probably damaging	Het
Hck	C	T	2: 153,129,067	A83V	probably damaging	Het
Hdc	T	C	2: 126,601,883	E292G	probably damaging	Het
Ighv1-23	A	G	12: 114,764,496	L102P	probably damaging	Het
Kdm3b	G	A	18: 34,793,070	V88M	probably damaging	Het
Kremen2	A	G	17: 23,742,771	V254A	probably benign	Het
Lrrc8e	T	A	8: 4,235,641	I622N	probably damaging	Het
Megf8	A	G	7: 25,347,492	N1600S	probably benign	Het
Mical3	A	G	6: 120,935,177	I1907T	probably damaging	Het
Nr4a3	T	A	4: 48,051,323	Y26N	probably damaging	Het
Nrl	T	C	14: 55,520,706	E188G	probably damaging	Het
Olfr311	T	A	11: 58,841,634	D173E	probably benign	Het
Olfr464	A	G	11: 87,914,159	M249T	possibly damaging	Het
Polr1a	G	A	6: 71,920,734	E238K	probably benign	Het
Prr5	G	C	15: 84,703,186	*388S	probably null	Het
Rptor	A	G	11: 119,892,647	T1156A	probably benign	Het
Slc9c1	T	A	16: 45,577,864	I664K	probably damaging	Het
Stn1	C	A	19: 47,517,059	R152L	probably damaging	Het
Syde2	T	C	3: 146,015,741	V1121A	probably benign	Het
Vmn1r158	T	C	7: 22,790,062	T241A	probably damaging	Het
Vmn1r209	C	A	13: 22,806,473	V16L	probably benign	Het
Wdr19	A	G	5: 65,225,295	E454G	probably damaging	Het
Zan	C	T	5: 137,394,464	E4590K	unknown	Het
Zfp628	A	G	7: 4,919,814	N345S	probably benign	Het
Zfp944	T	A	17: 22,339,724	K181*	probably null	Het
Zscan5b	C	T	7: 6,233,947	P232S	possibly damaging	Het

Other mutations in Zfp579

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00971:Zfp579	APN	7	4993391	missense	probably damaging	0.97
IGL01121:Zfp579	APN	7	4993247	missense	possibly damaging	0.59
IGL01475:Zfp579	APN	7	4994744	missense	probably benign	0.32
IGL01866:Zfp579	APN	7	4994258	missense	possibly damaging	0.88
IGL02284:Zfp579	APN	7	4994168	missense	probably damaging	0.99
IGL02313:Zfp579	APN	7	4994433	missense	probably benign	0.23
R1803:Zfp579	UTSW	7	4993770	missense	probably damaging	1.00
R2025:Zfp579	UTSW	7	4993521	nonsense	probably null
R2026:Zfp579	UTSW	7	4993521	nonsense	probably null
R2027:Zfp579	UTSW	7	4993521	nonsense	probably null
R3690:Zfp579	UTSW	7	4994720	missense	probably damaging	0.99
R4303:Zfp579	UTSW	7	4993073	utr 3 prime	probably benign
R6680:Zfp579	UTSW	7	4993502	missense	probably damaging	0.99
R6826:Zfp579	UTSW	7	4994426	missense	probably benign	0.01
R6869:Zfp579	UTSW	7	4994461	missense	probably benign	0.00
R7304:Zfp579	UTSW	7	4994583	missense	probably benign	0.22
R8220:Zfp579	UTSW	7	4993851	missense	probably benign	0.15
X0028:Zfp579	UTSW	7	4993933	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGAGACCCGAGTGGCTCA -3'
(R):5'- GTTTCTCCTGAACTTGGCCC -3'

Sequencing Primer
(F):5'- TCAGCCGGTGTCGAGACAG -3'
(R):5'- ACGTCTCCACAACTCTCTCC -3'

Posted On

2020-09-02