Mutagenetix > Incidental Mutation

Incidental Mutation 'R8748:Zfp583'

663645

Institutional Source

Beutler Lab

Gene Symbol

Zfp583

Ensembl Gene

ENSMUSG00000030443

Gene Name

zinc finger protein 583

Synonyms

MMRRC Submission

068591-MU

Accession Numbers

Essential gene?

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

Stock #

R8748 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6318659-6334284 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 6319419 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 531 (R531H)

Ref Sequence

ENSEMBL: ENSMUSP00000053935 (fasta)

Gene Model

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

AlphaFold

Q3V080

Predicted Effect

probably benign
Transcript: ENSMUST00000062765
AA Change: R531H

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000053935
Gene: ENSMUSG00000030443
AA Change: R531H

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: R531H

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000104200
Gene: ENSMUSG00000030443
AA Change: R531H

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: ENSMUST00000165705
AA Change: R531H

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000129551
Gene: ENSMUSG00000030443
AA Change: R531H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 97.9%

Validation Efficiency

96% (43/45)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	T	11: 109,836,597 (GRCm39)	F1233I	probably damaging	Het
Acte1	T	C	7: 143,445,556 (GRCm39)	I201T	probably benign	Het
Adgrl2	A	G	3: 148,532,026 (GRCm39)	I87T		Het
Atr	A	G	9: 95,814,476 (GRCm39)	M2058V	probably benign	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Bscl2	A	G	19: 8,825,311 (GRCm39)	E365G	probably damaging	Het
Casd1	T	A	6: 4,608,634 (GRCm39)	S77R	probably benign	Het
Ccdc91	T	C	6: 147,464,194 (GRCm39)	I214T	unknown	Het
Chpf2	T	C	5: 24,796,821 (GRCm39)	F589S	probably damaging	Het
Cmya5	T	A	13: 93,226,229 (GRCm39)	Y2953F	probably damaging	Het
Cts8	A	T	13: 61,397,086 (GRCm39)	V278D	probably damaging	Het
Cyp20a1	T	C	1: 60,392,181 (GRCm39)	V79A	probably damaging	Het
Dach1	G	A	14: 98,065,770 (GRCm39)	Q686*	probably null	Het
Daxx	A	G	17: 34,131,138 (GRCm39)	D355G	probably damaging	Het
Dmrt3	G	A	19: 25,588,550 (GRCm39)	A130T	probably benign	Het
Eif4ebp2	A	T	10: 61,270,806 (GRCm39)	H74Q	probably benign	Het
Exoc3l	T	C	8: 106,016,777 (GRCm39)	D679G	probably damaging	Het
Fam13c	T	A	10: 70,378,516 (GRCm39)	W349R	probably damaging	Het
Fat3	A	T	9: 15,834,161 (GRCm39)	Y4144N	possibly damaging	Het
Gm37240	A	G	3: 84,405,045 (GRCm39)	*253Q	probably null	Het
Hycc1	T	A	5: 24,170,320 (GRCm39)	D343V	probably benign	Het
Ildr1	A	C	16: 36,542,734 (GRCm39)	E422A	probably benign	Het
Itsn2	A	G	12: 4,751,337 (GRCm39)	E1309G	probably benign	Het
Macf1	T	C	4: 123,368,068 (GRCm39)	D2231G	probably benign	Het
Mtnr1a	T	C	8: 45,538,675 (GRCm39)	S38P	probably benign	Het
Or10d3	C	G	9: 39,461,711 (GRCm39)	G152A	possibly damaging	Het
Or10d3	C	A	9: 39,461,712 (GRCm39)	G152*	probably null	Het
Or10v5	A	G	19: 11,805,596 (GRCm39)	S265P	probably damaging	Het
Or11h6	G	T	14: 50,880,211 (GRCm39)	V152F	probably benign	Het
Pate13	A	C	9: 35,820,351 (GRCm39)	D25A	probably damaging	Het
Pcdhb9	G	A	18: 37,535,901 (GRCm39)	G632S	probably damaging	Het
Pgr	C	A	9: 8,958,449 (GRCm39)	L819I	probably benign	Het
Phrf1	T	C	7: 140,838,148 (GRCm39)	S448P	unknown	Het
Pip5k1a	A	G	3: 94,971,695 (GRCm39)	M471T	probably benign	Het
Postn	A	G	3: 54,296,760 (GRCm39)	D758G	probably damaging	Het
Rbmyf9	T	A	Y: 3,774,915 (GRCm39)		probably null	Het
Rpl3	T	C	15: 79,963,902 (GRCm39)	I280V	probably benign	Het
Rtl1	A	T	12: 109,561,492 (GRCm39)	S116T	probably benign	Het
Six5	A	G	7: 18,829,049 (GRCm39)	H163R	probably benign	Het
Smarca4	A	G	9: 21,546,164 (GRCm39)	D114G	possibly damaging	Het
Tex46	C	T	4: 136,337,808 (GRCm39)		probably benign	Het
Tmem144	A	G	3: 79,743,539 (GRCm39)		probably null	Het
Unc5d	T	C	8: 29,186,453 (GRCm39)	T617A	probably benign	Het
Vmn1r74	T	A	7: 11,580,903 (GRCm39)	S68T	probably benign	Het
Zfp184	G	A	13: 22,144,217 (GRCm39)	R641Q	probably benign	Het
Zfp764	T	C	7: 127,003,862 (GRCm39)	E423G	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
R5031:Zfp583	UTSW	7	6,320,397 (GRCm39)	missense	probably benign
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
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'- CCTACAAACTTGGATATTGGTAAGCA -3'
(R):5'- GCAACAGTTCATCGCTTGCA -3'

Sequencing Primer
(F):5'- TTGGCTGAAGTGTGGAAACTGAC -3'
(R):5'- TTGCACAGCATCAGAGAAGTC -3'

Posted On

2021-03-08