Mutagenetix > Incidental Mutation

Incidental Mutation 'R6826:Zfp579'

534162

Institutional Source

Beutler Lab

Gene Symbol

Zfp579

Ensembl Gene

ENSMUSG00000051550

Gene Name

zinc finger protein 579

Synonyms

1110003A17Rik

MMRRC Submission

045019-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6826 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4995851-4999100 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 4997425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 162 (A162D)

Ref Sequence

ENSEMBL: ENSMUSP00000123963 (fasta)

Gene Model

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

AlphaFold

Q80VM4

Predicted Effect

probably benign
Transcript: ENSMUST00000108572
AA Change: A162D

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000104212
Gene: ENSMUSG00000051550
AA Change: A162D

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

probably benign
Transcript: ENSMUST00000162502
AA Change: A162D

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000124074
Gene: ENSMUSG00000051550
AA Change: A162D

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 benign
Transcript: ENSMUST00000162731
AA Change: A162D

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000123963
Gene: ENSMUSG00000051550
AA Change: A162D

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: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,107,431 (GRCm39)	N728S	probably benign	Het
Acaca	T	C	11: 84,086,362 (GRCm39)	S63P	probably damaging	Het
Akr1c12	A	G	13: 4,325,733 (GRCm39)	V120A	probably benign	Het
Ap4b1	G	A	3: 103,720,224 (GRCm39)		probably null	Het
Apol7e	T	A	15: 77,602,491 (GRCm39)	V363D	probably damaging	Het
Bmpr1b	A	T	3: 141,563,167 (GRCm39)	L259Q	probably damaging	Het
Cdhr17	A	G	5: 17,013,292 (GRCm39)	I219V	unknown	Het
Clca3a2	T	C	3: 144,523,815 (GRCm39)	T57A	possibly damaging	Het
Copb1	T	C	7: 113,825,954 (GRCm39)	T677A	probably benign	Het
Crhr2	T	C	6: 55,094,725 (GRCm39)		probably benign	Het
Cyp11a1	A	G	9: 57,932,370 (GRCm39)	T228A	probably damaging	Het
Dnah1	T	C	14: 31,008,247 (GRCm39)	I2084V	probably benign	Het
Dnajc17	T	C	2: 119,011,408 (GRCm39)	K174R	probably damaging	Het
Dnm2	T	A	9: 21,415,767 (GRCm39)	Y646*	probably null	Het
Dock9	G	A	14: 121,860,330 (GRCm39)	P866L	probably damaging	Het
Elmo3	A	T	8: 106,033,378 (GRCm39)	I115F	probably damaging	Het
Elmod1	T	C	9: 53,826,883 (GRCm39)	T268A	probably benign	Het
F10	T	C	8: 13,096,165 (GRCm39)		probably null	Het
Fmo4	C	T	1: 162,631,338 (GRCm39)	V210M	probably damaging	Het
Foxred2	G	T	15: 77,831,285 (GRCm39)	H509Q	probably benign	Het
Hyal6	A	G	6: 24,734,371 (GRCm39)	I101M	probably damaging	Het
Igkv5-48	T	C	6: 69,703,584 (GRCm39)	Y107C	probably damaging	Het
Jag1	A	G	2: 136,958,095 (GRCm39)		probably null	Het
Leng8	T	A	7: 4,148,319 (GRCm39)	V697E	probably damaging	Het
Mdga1	T	C	17: 30,189,000 (GRCm39)	N21S	unknown	Het
Midn	T	A	10: 79,989,961 (GRCm39)	C126*	probably null	Het
Mlh3	A	T	12: 85,292,598 (GRCm39)	V1303E	probably benign	Het
Myh4	T	C	11: 67,137,357 (GRCm39)	L526P	probably damaging	Het
Or10ag55-ps1	G	A	2: 87,114,672 (GRCm39)	E13K	probably benign	Het
Or5b3	T	A	19: 13,388,452 (GRCm39)	V173E	probably benign	Het
Pde6b	C	T	5: 108,578,458 (GRCm39)	R799*	probably null	Het
Pde9a	A	G	17: 31,685,414 (GRCm39)	D382G	probably benign	Het
Pdrg1	A	C	2: 152,852,176 (GRCm39)		probably null	Het
Peg10	C	CATCAGGATG	6: 4,756,353 (GRCm39)		probably benign	Het
Ppp1r3a	C	A	6: 14,718,980 (GRCm39)	E645*	probably null	Het
Prrc2b	A	G	2: 32,112,300 (GRCm39)		probably null	Het
Ptprb	T	A	10: 116,153,277 (GRCm39)	M578K	probably benign	Het
Rasgrp3	G	T	17: 75,810,241 (GRCm39)	V314F	probably damaging	Het
Rps9	C	A	7: 3,708,775 (GRCm39)	D84E	probably benign	Het
Sdf2l1	C	G	16: 16,950,158 (GRCm39)	R6P	probably benign	Het
Serpina1e	A	G	12: 103,915,397 (GRCm39)	F270L	probably benign	Het
Slc24a5	G	A	2: 124,910,778 (GRCm39)	V70I	probably benign	Het
Slfn14	C	A	11: 83,172,644 (GRCm39)		probably null	Het
Smcr8	G	T	11: 60,669,688 (GRCm39)	D279Y	possibly damaging	Het
Snx16	A	T	3: 10,503,148 (GRCm39)	V33D	probably damaging	Het
Tesc	A	G	5: 118,194,483 (GRCm39)	T131A	probably damaging	Het
Tnfaip8l3	G	T	9: 53,934,783 (GRCm39)	T64K	possibly damaging	Het
Vmn2r1	T	A	3: 64,012,567 (GRCm39)	Y809*	probably null	Het
Vmn2r25	A	G	6: 123,800,071 (GRCm39)	V757A	probably damaging	Het
Vmn2r3	A	T	3: 64,182,327 (GRCm39)	Y457*	probably null	Het
Wee1	T	C	7: 109,723,870 (GRCm39)		probably null	Het
Wfdc3	C	T	2: 164,576,178 (GRCm39)	G38R	possibly damaging	Het
Zfp541	A	G	7: 15,812,907 (GRCm39)	E520G	probably damaging	Het
Zfp811	A	G	17: 33,016,762 (GRCm39)	F425S	probably 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
IGL02284:Zfp579	APN	7	4,997,167 (GRCm39)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- GAAGGACCTGTTTCTCCTCC -3'
(R):5'- TACTACCTGTCTCGACACCG -3'

Sequencing Primer
(F):5'- GGACCTGTTTCTCCTCCTGTCG -3'
(R):5'- GTGCCCCAAAGCTTTCCG -3'

Posted On

2018-09-12