Mutagenetix > Incidental Mutation

Incidental Mutation 'R3110:Zfp879'

477914

Institutional Source

Beutler Lab

Gene Symbol

Zfp879

Ensembl Gene

ENSMUSG00000044296

Gene Name

zinc finger protein 879

Synonyms

MMRRC Submission

040584-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3110 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50832031-50841552 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 50833162 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 283 (I283L)

Ref Sequence

ENSEMBL: ENSMUSP00000104761 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049625] [ENSMUST00000109133] [ENSMUST00000109134]

AlphaFold

Q8BI99

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049625
AA Change: I356L

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000061782
Gene: ENSMUSG00000044296
AA Change: I356L

Domain	Start	End	E-Value	Type
KRAB	14	74	1.54e-33	SMART
ZnF_C2H2	204	226	1.92e-2	SMART
ZnF_C2H2	232	254	1.38e-3	SMART
ZnF_C2H2	260	282	1.16e-1	SMART
ZnF_C2H2	288	310	4.54e-4	SMART
ZnF_C2H2	316	338	8.34e-3	SMART
ZnF_C2H2	344	366	4.87e-4	SMART
ZnF_C2H2	372	394	8.47e-4	SMART
ZnF_C2H2	400	422	1.84e-4	SMART
ZnF_C2H2	428	450	2.57e-3	SMART
ZnF_C2H2	456	478	1.47e-3	SMART
ZnF_C2H2	484	506	3.21e-4	SMART
ZnF_C2H2	512	534	1.5e-4	SMART
ZnF_C2H2	540	562	5.21e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109133
AA Change: I283L

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104761
Gene: ENSMUSG00000044296
AA Change: I283L

Domain	Start	End	E-Value	Type
ZnF_C2H2	131	153	1.92e-2	SMART
ZnF_C2H2	159	181	1.38e-3	SMART
ZnF_C2H2	187	209	1.16e-1	SMART
ZnF_C2H2	215	237	4.54e-4	SMART
ZnF_C2H2	243	265	8.34e-3	SMART
ZnF_C2H2	271	293	4.87e-4	SMART
ZnF_C2H2	299	321	8.47e-4	SMART
ZnF_C2H2	327	349	1.84e-4	SMART
ZnF_C2H2	355	377	2.57e-3	SMART
ZnF_C2H2	383	405	1.47e-3	SMART
ZnF_C2H2	411	433	3.21e-4	SMART
ZnF_C2H2	439	461	1.5e-4	SMART
ZnF_C2H2	467	489	5.21e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109134
AA Change: I356L

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104762
Gene: ENSMUSG00000044296
AA Change: I356L

Domain	Start	End	E-Value	Type
KRAB	14	74	1.54e-33	SMART
ZnF_C2H2	204	226	1.92e-2	SMART
ZnF_C2H2	232	254	1.38e-3	SMART
ZnF_C2H2	260	282	1.16e-1	SMART
ZnF_C2H2	288	310	4.54e-4	SMART
ZnF_C2H2	316	338	8.34e-3	SMART
ZnF_C2H2	344	366	4.87e-4	SMART
ZnF_C2H2	372	394	8.47e-4	SMART
ZnF_C2H2	400	422	1.84e-4	SMART
ZnF_C2H2	428	450	2.57e-3	SMART
ZnF_C2H2	456	478	1.47e-3	SMART
ZnF_C2H2	484	506	3.21e-4	SMART
ZnF_C2H2	512	534	1.5e-4	SMART
ZnF_C2H2	540	562	5.21e-4	SMART

Meta Mutation Damage Score

0.0813

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	T	G	2: 111,228,054	L131F	probably damaging	Het
Abca6	T	A	11: 110,178,829	K1554*	probably null	Het
Acads	T	C	5: 115,117,698	H26R	probably benign	Het
Acer1	G	A	17: 56,958,406	T141I	probably damaging	Het
Adam15	C	G	3: 89,347,457	V99L	probably benign	Het
Ankrd13b	A	G	11: 77,477,505	V97A	possibly damaging	Het
Anpep	T	C	7: 79,841,972	T94A	probably benign	Het
Atp1a3	T	C	7: 24,994,694	N345S	probably damaging	Het
Btn1a1	T	A	13: 23,461,551	N216I	possibly damaging	Het
Cacna1s	G	A	1: 136,075,093	W62*	probably null	Het
Ccdc141	C	T	2: 77,039,486	V892I	probably benign	Het
Ccdc180	T	A	4: 45,900,470	I278K	possibly damaging	Het
Cdc7	T	G	5: 106,974,698		probably null	Het
Cpb1	C	T	3: 20,265,357	V188M	probably damaging	Het
Dock5	A	G	14: 67,857,922	I101T	possibly damaging	Het
Dqx1	T	C	6: 83,058,972	V95A	probably damaging	Het
Dvl1	T	A	4: 155,853,666	D90E	probably damaging	Het
Ebf1	T	A	11: 44,643,398		probably benign	Het
Fam135b	T	C	15: 71,464,030	I438M	probably benign	Het
Fam57a	A	G	11: 76,202,231	D33G	probably benign	Het
Fpr1	A	T	17: 17,876,635	M364K	probably benign	Het
Gm14139	C	G	2: 150,192,221	P185R	probably damaging	Het
Gm7030	T	C	17: 36,129,146	Y32C	probably damaging	Het
Gm9932	A	T	5: 100,198,935		unknown	Het
Gpat4	G	A	8: 23,180,155	P286L	probably damaging	Het
Gpx7	C	A	4: 108,403,273	V109F	probably damaging	Het
Grhl2	T	C	15: 37,336,347		probably null	Het
Grn	A	G	11: 102,433,243	T53A	probably benign	Het
Hist1h1e	T	C	13: 23,621,846		probably benign	Het
Hmgxb3	T	C	18: 61,147,382	N683S	probably damaging	Het
Iigp1	T	C	18: 60,390,911	I367T	probably benign	Het
Itfg2	T	C	6: 128,411,669	E285G	probably damaging	Het
Itgav	T	A	2: 83,792,571	C662*	probably null	Het
Jarid2	T	A	13: 44,906,276	N661K	probably damaging	Het
Jmjd1c	T	A	10: 67,240,084		probably benign	Het
Lipe	T	C	7: 25,398,423	T32A	probably benign	Het
Lrrk2	A	G	15: 91,814,695	Y2475C	probably benign	Het
Mcc	T	C	18: 44,449,263	D607G	probably damaging	Het
Mip	T	A	10: 128,226,006	L42*	probably null	Het
Mlc1	A	T	15: 88,965,996	D192E	probably benign	Het
Muc2	T	C	7: 141,745,488		probably benign	Het
Mybl1	T	C	1: 9,681,870	D260G	probably damaging	Het
Ncln	C	T	10: 81,487,685	V51I	probably benign	Het
Nlrp9a	T	C	7: 26,557,872	V305A	probably benign	Het
Nodal	G	A	10: 61,424,497	R309Q	possibly damaging	Het
Olfr1338	A	T	4: 118,754,224	F105I	probably damaging	Het
Olfr294	T	C	7: 86,615,676	Y323C	probably benign	Het
Olfr536	A	G	7: 140,503,919	I180T	probably damaging	Het
Olr1	T	C	6: 129,499,918	N128S	possibly damaging	Het
Orc1	T	A	4: 108,604,560	C585S	probably benign	Het
Pcmtd2	A	T	2: 181,855,129	I300F	probably damaging	Het
Phactr3	T	A	2: 178,279,017	L180Q	possibly damaging	Het
Pigo	T	C	4: 43,021,083	T612A	probably benign	Het
Plch1	T	A	3: 63,709,531	D766V	probably damaging	Het
Plekhh3	T	C	11: 101,164,147		probably benign	Het
Ppp1r12b	T	A	1: 134,872,832	T547S	probably damaging	Het
Prkcb	T	A	7: 122,516,856	M186K	probably damaging	Het
Prpf3	A	T	3: 95,849,800		probably benign	Het
Psg23	T	C	7: 18,610,444	D362G	possibly damaging	Het
Reg3a	T	C	6: 78,381,131	L15P	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Scrib	A	T	15: 76,069,374	I5N	probably damaging	Het
Speg	C	T	1: 75,422,682	Q2005*	probably null	Het
Sppl3	A	T	5: 115,074,864	S51C	possibly damaging	Het
Sspo	A	G	6: 48,457,600	T1009A	probably damaging	Het
Syce1l	A	G	8: 113,654,947	Q164R	probably benign	Het
Sympk	T	C	7: 19,034,484	V126A	possibly damaging	Het
Tas2r110	T	A	6: 132,868,024	I6K	unknown	Het
Tas2r120	A	T	6: 132,657,768	H271L	probably damaging	Het
Tnn	T	A	1: 160,116,286	T986S	possibly damaging	Het
Trim5	T	C	7: 104,279,638	H32R	probably damaging	Het
Ttc13	A	G	8: 124,683,834	I360T	possibly damaging	Het
Uaca	A	G	9: 60,871,499	E1054G	probably damaging	Het
Usp16	T	A	16: 87,471,848		probably null	Het
Wee1	T	A	7: 110,130,836	S382R	probably damaging	Het
Wnt11	T	C	7: 98,846,564	S92P	probably damaging	Het
Zfp786	A	G	6: 47,820,226	C593R	probably damaging	Het

Other mutations in Zfp879

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01659:Zfp879	APN	11	50838454	missense	probably damaging	1.00
IGL02175:Zfp879	APN	11	50837916	missense	probably benign	0.13
IGL02259:Zfp879	APN	11	50838428	missense	probably benign	0.00
Bazooka	UTSW	11	50838475	missense	probably damaging	0.98
joe	UTSW	11	50833395	missense	probably damaging	0.99
R0131:Zfp879	UTSW	11	50833599	missense	probably damaging	1.00
R1430:Zfp879	UTSW	11	50833957	missense	probably benign	0.00
R1576:Zfp879	UTSW	11	50833549	missense	probably benign	0.41
R1616:Zfp879	UTSW	11	50832646	missense	probably benign	0.06
R1701:Zfp879	UTSW	11	50833233	missense	possibly damaging	0.77
R1965:Zfp879	UTSW	11	50833528	missense	probably damaging	1.00
R2057:Zfp879	UTSW	11	50832601	missense	probably benign
R2058:Zfp879	UTSW	11	50832601	missense	probably benign
R2219:Zfp879	UTSW	11	50833267	missense	probably damaging	1.00
R3112:Zfp879	UTSW	11	50833162	missense	possibly damaging	0.87
R4658:Zfp879	UTSW	11	50833197	missense	probably damaging	1.00
R4845:Zfp879	UTSW	11	50833845	missense	probably damaging	1.00
R4998:Zfp879	UTSW	11	50837969	missense	probably damaging	1.00
R6362:Zfp879	UTSW	11	50838475	missense	probably damaging	0.98
R6930:Zfp879	UTSW	11	50833012	missense	probably damaging	1.00
R7091:Zfp879	UTSW	11	50833395	missense	probably damaging	0.99
R7186:Zfp879	UTSW	11	50833794	missense	probably benign	0.06
R7218:Zfp879	UTSW	11	50832681	missense	possibly damaging	0.61
R8138:Zfp879	UTSW	11	50833448	nonsense	probably null
R8445:Zfp879	UTSW	11	50833386	missense	probably damaging	0.98
R8523:Zfp879	UTSW	11	50837930	missense	probably benign
R8725:Zfp879	UTSW	11	50838494	missense	probably damaging	0.98
R8790:Zfp879	UTSW	11	50832602	nonsense	probably null
R8882:Zfp879	UTSW	11	50833936	nonsense	probably null
R9229:Zfp879	UTSW	11	50833059	missense	probably damaging	1.00
X0066:Zfp879	UTSW	11	50833087	missense	possibly damaging	0.89
Z1177:Zfp879	UTSW	11	50833431	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-05-15