Mutagenetix > Incidental Mutation

Incidental Mutation 'R5723:Zfp583'

452318

Institutional Source

Beutler Lab

Gene Symbol

Zfp583

Ensembl Gene

ENSMUSG00000030443

Gene Name

zinc finger protein 583

Synonyms

MMRRC Submission

043341-MU

Accession Numbers

Essential gene?

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

Stock #

R5723 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6318659-6334284 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 6326674 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 68 (Q68H)

Ref Sequence

ENSEMBL: ENSMUSP00000118249 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062765] [ENSMUST00000108560] [ENSMUST00000127658] [ENSMUST00000165705]

AlphaFold

Q3V080

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062765
AA Change: Q68H

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

SMART Domains

Protein: ENSMUSP00000053935
Gene: ENSMUSG00000030443
AA Change: Q68H

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

possibly damaging
Transcript: ENSMUST00000108560
AA Change: Q68H

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

SMART Domains

Protein: ENSMUSP00000104200
Gene: ENSMUSG00000030443
AA Change: Q68H

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 damaging
Transcript: ENSMUST00000127658
AA Change: Q68H

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118249
Gene: ENSMUSG00000030443
AA Change: Q68H

Domain	Start	End	E-Value	Type
KRAB	6	66	7.45e-32	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135435

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165705
AA Change: Q68H

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

SMART Domains

Protein: ENSMUSP00000129551
Gene: ENSMUSG00000030443
AA Change: Q68H

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,844,445 (GRCm39)	D862G	possibly damaging	Het
Abcg2	C	T	6: 58,655,336 (GRCm39)	Q109*	probably null	Het
Acbd7	A	G	2: 3,341,455 (GRCm39)	Y33C	probably damaging	Het
Actl7a	A	G	4: 56,744,310 (GRCm39)	D279G	probably damaging	Het
Akr1c18	A	T	13: 4,194,328 (GRCm39)	Y110*	probably null	Het
Akt1	T	C	12: 112,623,704 (GRCm39)	K276E	probably damaging	Het
Bcas2	A	G	3: 103,084,608 (GRCm39)		probably benign	Het
C9	T	A	15: 6,516,297 (GRCm39)	Y367N	probably damaging	Het
Cd163	A	G	6: 124,296,022 (GRCm39)	T789A	probably benign	Het
Cers6	T	A	2: 68,938,789 (GRCm39)	S344T	probably benign	Het
Clcn4	A	G	7: 7,294,681 (GRCm39)	V329A	probably damaging	Het
Crisp3	A	C	17: 40,546,804 (GRCm39)	V38G	probably damaging	Het
Cyp2b23	A	G	7: 26,380,821 (GRCm39)	F135L	probably benign	Het
Cyrib	A	T	15: 63,828,447 (GRCm39)		probably null	Het
Ddr2	A	T	1: 169,816,089 (GRCm39)	C539*	probably null	Het
Efna5	T	A	17: 62,914,458 (GRCm39)	D189V	probably damaging	Het
Endov	G	T	11: 119,390,675 (GRCm39)	V70F	probably damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Frem3	A	T	8: 81,340,026 (GRCm39)	H773L	probably benign	Het
Gm43302	T	A	5: 105,365,352 (GRCm39)	Q552L	possibly damaging	Het
Gramd1a	A	T	7: 30,833,908 (GRCm39)	W506R	probably damaging	Het
Hmcn1	C	T	1: 150,570,600 (GRCm39)	V2188I	possibly damaging	Het
Ifit1bl2	A	G	19: 34,597,458 (GRCm39)	F53L	probably benign	Het
Kat8	G	A	7: 127,523,988 (GRCm39)	E343K	probably damaging	Het
Kif5a	GGGTTGGT	GGGT	10: 127,066,898 (GRCm39)		probably null	Het
Krt16	A	G	11: 100,139,272 (GRCm39)	Y149H	probably damaging	Het
Krtap5-2	A	T	7: 141,728,742 (GRCm39)	C313S	unknown	Het
Mreg	A	G	1: 72,201,527 (GRCm39)	I155T	probably damaging	Het
Nans	T	C	4: 46,499,083 (GRCm39)	F130S	probably benign	Het
Nox4	T	C	7: 86,954,181 (GRCm39)		probably benign	Het
Or3a1d	C	A	11: 74,237,954 (GRCm39)	W32L	possibly damaging	Het
Or52ad1	A	T	7: 102,995,826 (GRCm39)	M103K	possibly damaging	Het
Or56a3	C	A	7: 104,740,309 (GRCm39)	C179F	probably damaging	Het
Or5k15	A	T	16: 58,709,976 (GRCm39)	Y202*	probably null	Het
Pgap6	CGGGG	CGGGGG	17: 26,339,536 (GRCm39)		probably null	Het
Pkd1	A	G	17: 24,784,497 (GRCm39)	T348A	probably benign	Het
Poteg	T	C	8: 27,940,020 (GRCm39)		probably null	Het
Prom1	T	G	5: 44,172,236 (GRCm39)	N585T	probably benign	Het
Rfc1	T	C	5: 65,434,769 (GRCm39)	S666G	probably null	Het
Rilp	A	G	11: 75,403,687 (GRCm39)		probably benign	Het
Serpina3i	A	G	12: 104,231,759 (GRCm39)	E132G	probably benign	Het
Serpina3m	T	C	12: 104,360,170 (GRCm39)	V414A	probably damaging	Het
Sfrp4	T	C	13: 19,807,868 (GRCm39)	F89S	probably damaging	Het
Stat5a	A	G	11: 100,772,900 (GRCm39)	H692R	probably benign	Het
Tex29	A	T	8: 11,904,279 (GRCm39)		probably benign	Het
Tmc5	T	A	7: 118,271,416 (GRCm39)	F910I	probably damaging	Het
Tusc3	G	A	8: 39,538,651 (GRCm39)	G230D	possibly damaging	Het
Ubqln3	G	A	7: 103,790,674 (GRCm39)	P472L	probably benign	Het
Upb1	A	T	10: 75,264,105 (GRCm39)	I184F	probably damaging	Het
Vamp4	T	C	1: 162,401,932 (GRCm39)	F5L	possibly damaging	Het
Zfp831	A	C	2: 174,487,200 (GRCm39)	H625P	probably benign	Het
Zfp941	G	A	7: 140,392,763 (GRCm39)		probably benign	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
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'- CTAACCCAGAAGCTTGGCAC -3'
(R):5'- ACTGCTTTGGGGAAACAGCC -3'

Sequencing Primer
(F):5'- ACACCAGCGGTTTTCAATCTGG -3'
(R):5'- CAAAGAGAATTGTTTGCCTTACCCC -3'

Posted On

2017-01-03