Mutagenetix > Incidental Mutation

Incidental Mutation 'R5031:Zfp583'

391688

Institutional Source

Beutler Lab

Gene Symbol

Zfp583

Ensembl Gene

ENSMUSG00000030443

Gene Name

zinc finger protein 583

Synonyms

MMRRC Submission

042622-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R5031 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6318659-6334284 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6320397 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 205 (Q205L)

Ref Sequence

ENSEMBL: ENSMUSP00000129551 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062765] [ENSMUST00000108560] [ENSMUST00000165705]

AlphaFold

Q3V080

Predicted Effect

probably benign
Transcript: ENSMUST00000062765
AA Change: Q205L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000053935
Gene: ENSMUSG00000030443
AA Change: Q205L

Domain	Start	End	E-Value	Type
KRAB	6	66	7.45e-32	SMART
ZnF_C2H2	211	233	2.09e-3	SMART
ZnF_C2H2	239	261	3.89e-3	SMART
ZnF_C2H2	267	289	2.95e-3	SMART
ZnF_C2H2	295	317	1.2e-3	SMART
ZnF_C2H2	323	345	7.26e-3	SMART
ZnF_C2H2	351	373	2.61e-4	SMART
ZnF_C2H2	379	401	2.75e-3	SMART
ZnF_C2H2	407	429	2.57e-3	SMART
ZnF_C2H2	435	457	2.09e-3	SMART
ZnF_C2H2	463	485	1.58e-3	SMART
ZnF_C2H2	491	513	3.44e-4	SMART
ZnF_C2H2	519	541	1.36e-2	SMART
low complexity region	545	561	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108560
AA Change: Q205L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104200
Gene: ENSMUSG00000030443
AA Change: Q205L

Domain	Start	End	E-Value	Type
KRAB	6	66	7.45e-32	SMART
ZnF_C2H2	211	233	2.09e-3	SMART
ZnF_C2H2	239	261	3.89e-3	SMART
ZnF_C2H2	267	289	2.95e-3	SMART
ZnF_C2H2	295	317	1.2e-3	SMART
ZnF_C2H2	323	345	7.26e-3	SMART
ZnF_C2H2	351	373	2.61e-4	SMART
ZnF_C2H2	379	401	2.75e-3	SMART
ZnF_C2H2	407	429	2.57e-3	SMART
ZnF_C2H2	435	457	2.09e-3	SMART
ZnF_C2H2	463	485	1.58e-3	SMART
ZnF_C2H2	491	513	3.44e-4	SMART
ZnF_C2H2	519	541	1.36e-2	SMART
low complexity region	545	561	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123868

Predicted Effect

probably benign
Transcript: ENSMUST00000165705
AA Change: Q205L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000129551
Gene: ENSMUSG00000030443
AA Change: Q205L

Domain	Start	End	E-Value	Type
KRAB	6	66	7.45e-32	SMART
ZnF_C2H2	211	233	2.09e-3	SMART
ZnF_C2H2	239	261	3.89e-3	SMART
ZnF_C2H2	267	289	2.95e-3	SMART
ZnF_C2H2	295	317	1.2e-3	SMART
ZnF_C2H2	323	345	7.26e-3	SMART
ZnF_C2H2	351	373	2.61e-4	SMART
ZnF_C2H2	379	401	2.75e-3	SMART
ZnF_C2H2	407	429	2.57e-3	SMART
ZnF_C2H2	435	457	2.09e-3	SMART
ZnF_C2H2	463	485	1.58e-3	SMART
ZnF_C2H2	491	513	3.44e-4	SMART
ZnF_C2H2	519	541	1.36e-2	SMART
low complexity region	545	561	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 89.9%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,247,678 (GRCm39)	N2475I	probably damaging	Het
Acnat2	T	C	4: 49,380,631 (GRCm39)	K231R	probably damaging	Het
Ank1	C	T	8: 23,589,696 (GRCm39)	P599L	probably damaging	Het
Arhgef19	A	G	4: 140,978,121 (GRCm39)	E580G	probably damaging	Het
Atr	A	G	9: 95,747,755 (GRCm39)	K346E	probably damaging	Het
AU021092	T	C	16: 5,030,468 (GRCm39)	K309E	probably damaging	Het
Baz2b	T	C	2: 59,743,151 (GRCm39)	R1607G	probably benign	Het
Cct8	C	T	16: 87,284,426 (GRCm39)	V254M	probably damaging	Het
Cdca2	T	A	14: 67,950,602 (GRCm39)	I110F	probably damaging	Het
Csmd3	A	T	15: 47,522,588 (GRCm39)	C2694S	probably damaging	Het
Dmkn	A	G	7: 30,463,661 (GRCm39)	I105V	probably benign	Het
Dock1	A	G	7: 134,753,975 (GRCm39)	D1584G	probably benign	Het
Epg5	G	A	18: 78,072,163 (GRCm39)	V2392I	probably benign	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gsap	G	A	5: 21,447,824 (GRCm39)	S294N	possibly damaging	Het
Hectd2	A	G	19: 36,577,004 (GRCm39)	N142D	probably damaging	Het
Hmcn1	A	G	1: 150,464,008 (GRCm39)	C5091R	probably damaging	Het
Ifitm5	G	A	7: 140,530,017 (GRCm39)	R36*	probably null	Het
Ints2	G	A	11: 86,147,026 (GRCm39)	P40L	probably damaging	Het
Irs1	A	T	1: 82,264,688 (GRCm39)	L1176*	probably null	Het
Klhl29	C	T	12: 5,141,334 (GRCm39)	R550Q	probably benign	Het
Kyat1	A	G	2: 30,078,102 (GRCm39)	M134T	probably damaging	Het
Lrrk2	A	T	15: 91,584,822 (GRCm39)	N384Y	possibly damaging	Het
Magel2	T	C	7: 62,029,852 (GRCm39)	S919P	unknown	Het
Mettl16	A	T	11: 74,693,825 (GRCm39)	I279F	probably benign	Het
Mmut	T	C	17: 41,249,718 (GRCm39)	F231S	possibly damaging	Het
Mrgpra1	A	T	7: 46,984,985 (GRCm39)	Y231*	probably null	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Mvp	A	C	7: 126,592,788 (GRCm39)	Y374*	probably null	Het
Nabp2	G	A	10: 128,245,497 (GRCm39)		probably benign	Het
Nos1	C	T	5: 118,017,378 (GRCm39)	P247L	probably benign	Het
Or10ag53	C	A	2: 87,082,426 (GRCm39)	F48L	probably benign	Het
Or9g4b	T	A	2: 85,616,062 (GRCm39)	L69*	probably null	Het
Pik3cb	C	T	9: 98,953,461 (GRCm39)	D441N	probably damaging	Het
Qrich1	C	T	9: 108,418,935 (GRCm39)	P464S	possibly damaging	Het
Rab17	A	T	1: 90,887,860 (GRCm39)		probably null	Het
Relch	A	G	1: 105,592,239 (GRCm39)	N136S	probably damaging	Het
Rspo3	A	T	10: 29,382,443 (GRCm39)	L77H	probably damaging	Het
Spn	G	T	7: 126,736,402 (GRCm39)	T35K	probably benign	Het
Sult1d1	T	A	5: 87,707,703 (GRCm39)	Y139F	possibly damaging	Het
Tbc1d32	C	A	10: 55,999,627 (GRCm39)	Q848H	probably damaging	Het
Tcaf3	A	G	6: 42,573,867 (GRCm39)	V115A	probably benign	Het
Tram1l1	T	A	3: 124,115,293 (GRCm39)	L151*	probably null	Het
Trappc12	T	A	12: 28,742,512 (GRCm39)	I682L	possibly damaging	Het
Trav6d-4	A	C	14: 52,991,056 (GRCm39)	T31P	probably damaging	Het
Trpm8	A	G	1: 88,275,910 (GRCm39)	T503A	probably benign	Het
Virma	T	A	4: 11,542,116 (GRCm39)	Y1567*	probably null	Het
Vmn1r228	T	A	17: 20,996,943 (GRCm39)	K192*	probably null	Het
Zfp521	T	A	18: 13,977,330 (GRCm39)	T1028S	possibly damaging	Het

Other mutations in Zfp583

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01084:Zfp583	APN	7	6,320,184 (GRCm39)	missense	probably damaging	1.00
IGL01921:Zfp583	APN	7	6,328,569 (GRCm39)	missense	possibly damaging	0.95
R1593:Zfp583	UTSW	7	6,320,008 (GRCm39)	missense	probably benign	0.03
R2188:Zfp583	UTSW	7	6,320,610 (GRCm39)	missense	probably benign
R4377:Zfp583	UTSW	7	6,320,680 (GRCm39)	missense	possibly damaging	0.61
R5000:Zfp583	UTSW	7	6,328,473 (GRCm39)	missense	probably damaging	1.00
R5723:Zfp583	UTSW	7	6,326,674 (GRCm39)	missense	probably damaging	0.98
R6603:Zfp583	UTSW	7	6,328,475 (GRCm39)	missense	probably damaging	1.00
R7325:Zfp583	UTSW	7	6,319,585 (GRCm39)	missense	probably damaging	0.99
R7391:Zfp583	UTSW	7	6,319,498 (GRCm39)	missense	probably damaging	1.00
R7673:Zfp583	UTSW	7	6,320,009 (GRCm39)	missense	possibly damaging	0.91
R8035:Zfp583	UTSW	7	6,319,771 (GRCm39)	missense	probably damaging	1.00
R8127:Zfp583	UTSW	7	6,326,821 (GRCm39)	splice site	probably null
R8331:Zfp583	UTSW	7	6,320,554 (GRCm39)	missense	probably benign
R8732:Zfp583	UTSW	7	6,320,210 (GRCm39)	nonsense	probably null
R8748:Zfp583	UTSW	7	6,319,419 (GRCm39)	missense	probably benign	0.01
R9011:Zfp583	UTSW	7	6,319,627 (GRCm39)	missense	probably damaging	1.00
R9016:Zfp583	UTSW	7	6,320,404 (GRCm39)	missense	probably benign	0.28
R9038:Zfp583	UTSW	7	6,319,543 (GRCm39)	missense	probably damaging	1.00
R9075:Zfp583	UTSW	7	6,319,870 (GRCm39)	missense	probably damaging	1.00
R9346:Zfp583	UTSW	7	6,328,542 (GRCm39)	missense	probably benign	0.01
R9652:Zfp583	UTSW	7	6,320,328 (GRCm39)	missense	probably damaging	1.00
RF024:Zfp583	UTSW	7	6,319,981 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CATTCATAAGGCTTCTCCCCAG -3'
(R):5'- GGAGGTGCATTCCCATCAATTG -3'

Sequencing Primer
(F):5'- ATAAGGCTTCTCCCCAGTGTGTATTC -3'
(R):5'- GTTCATCACTCATAAAGAAGTCCCTG -3'

Posted On

2016-06-06