Mutagenetix > Incidental Mutation

Incidental Mutation 'R0552:Zfp563'

45262

Institutional Source

Beutler Lab

Gene Symbol

Zfp563

Ensembl Gene

ENSMUSG00000067424

Gene Name

zinc finger protein 563

Synonyms

zinc finger protein, Zfp413

MMRRC Submission

038744-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R0552 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33089310-33106203 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33104685 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 85 (S85C)

Ref Sequence

ENSEMBL: ENSMUSP00000118809 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000131722] [ENSMUST00000140829]

AlphaFold

B8JJZ9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000131722
AA Change: S85C

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000118809
Gene: ENSMUSG00000067424
AA Change: S85C

Domain	Start	End	E-Value	Type
KRAB	4	61	5.45e-16	SMART
ZnF_C2H2	141	163	2.63e2	SMART
ZnF_C2H2	169	191	9.08e-4	SMART
ZnF_C2H2	197	219	9.88e-5	SMART
ZnF_C2H2	225	247	3.16e-3	SMART
ZnF_C2H2	253	275	5.81e-2	SMART
ZnF_C2H2	281	303	2.4e-3	SMART
ZnF_C2H2	309	331	1.82e-3	SMART
ZnF_C2H2	337	359	1.72e-4	SMART
ZnF_C2H2	365	387	4.54e-4	SMART
ZnF_C2H2	393	415	7.78e-3	SMART
ZnF_C2H2	421	443	3.63e-3	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000140829
AA Change: S85C

SMART Domains

Protein: ENSMUSP00000121678
Gene: ENSMUSG00000067424
AA Change: S85C

Domain	Start	End	E-Value	Type
KRAB	4	61	5.45e-16	SMART
ZnF_C2H2	141	163	2.63e2	SMART
ZnF_C2H2	169	191	9.08e-4	SMART
Pfam:zf-C2H2_4	197	209	9.4e-2	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000153072
AA Change: S125C

SMART Domains

Protein: ENSMUSP00000119142
Gene: ENSMUSG00000067424
AA Change: S125C

Domain	Start	End	E-Value	Type
low complexity region	30	41	N/A	INTRINSIC
KRAB	45	102	5.45e-16	SMART

Meta Mutation Damage Score

0.1113

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam9	A	T	8: 24,963,010	N760K	probably benign	Het
Akr1b10	A	G	6: 34,392,985	T216A	possibly damaging	Het
Arsj	A	G	3: 126,439,344	R580G	probably benign	Het
C9	A	T	15: 6,445,437	I26F	probably damaging	Het
Cacna2d1	A	G	5: 16,328,043	E578G	probably damaging	Het
Clca4b	C	T	3: 144,916,775	V510I	probably benign	Het
Dab2	C	T	15: 6,435,414	T561I	possibly damaging	Het
E430018J23Rik	A	T	7: 127,392,332	I161N	possibly damaging	Het
Gm4737	T	A	16: 46,154,592	T141S	probably benign	Het
Golga5	A	T	12: 102,484,493	E12D	possibly damaging	Het
Hsd17b12	A	T	2: 94,043,935	F208I	probably damaging	Het
Inf2	A	G	12: 112,612,574		probably benign	Het
Kcnh3	T	A	15: 99,229,456	W378R	probably damaging	Het
Klhdc8b	G	C	9: 108,449,223	R158G	possibly damaging	Het
Klhl41	G	A	2: 69,670,210	R5Q	probably benign	Het
Lcn3	T	C	2: 25,766,409		probably null	Het
Mppe1	A	G	18: 67,237,348		probably null	Het
Muc20	G	A	16: 32,793,930	A359V	probably damaging	Het
Myh14	T	C	7: 44,613,681	D1765G	probably damaging	Het
Olfr1257	C	T	2: 89,880,891	Q22*	probably null	Het
Olfr418	T	C	1: 173,270,805	M210T	probably benign	Het
Olfr482	A	G	7: 108,094,778	M264T	probably benign	Het
Pbrm1	T	A	14: 31,035,959	L182Q	probably damaging	Het
Pde8a	A	G	7: 81,317,347	N412S	probably benign	Het
Phyh	A	G	2: 4,936,101	T271A	probably damaging	Het
Pkhd1l1	T	C	15: 44,489,546	S258P	probably damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Pyroxd1	A	G	6: 142,345,737	E2G	probably benign	Het
Ralgapa1	G	T	12: 55,676,765	Q2115K	probably benign	Het
Rufy3	A	G	5: 88,584,270	E44G	possibly damaging	Het
Slit2	A	T	5: 48,238,379	N712I	probably damaging	Het
Sptbn1	A	G	11: 30,145,985	M303T	possibly damaging	Het
Ssbp4	A	G	8: 70,599,859	I154T	probably benign	Het
Syne2	A	G	12: 75,931,004	K1409E	probably benign	Het
Tfap2b	T	C	1: 19,234,225	Y420H	probably damaging	Het
Tlr5	A	G	1: 182,975,696		probably null	Het
Tmprss15	C	T	16: 79,024,749		probably null	Het
Tns1	A	T	1: 73,920,563	I418N	probably damaging	Het
Txlna	A	T	4: 129,629,191	V452D	probably benign	Het
Wdr17	C	T	8: 54,693,096	A90T	possibly damaging	Het

Other mutations in Zfp563

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01629:Zfp563	APN	17	33104626	missense	probably damaging	1.00
IGL01981:Zfp563	APN	17	33105409	missense	probably benign	0.16
IGL02407:Zfp563	APN	17	33104821	missense	probably benign	0.00
IGL02662:Zfp563	APN	17	33102279	missense	probably damaging	1.00
IGL03220:Zfp563	APN	17	33104687	missense	probably benign	0.44
R0241:Zfp563	UTSW	17	33104685	missense	possibly damaging	0.61
R0241:Zfp563	UTSW	17	33104685	missense	possibly damaging	0.61
R0537:Zfp563	UTSW	17	33104685	missense	possibly damaging	0.61
R1544:Zfp563	UTSW	17	33105213	missense	probably benign	0.01
R3763:Zfp563	UTSW	17	33104928	nonsense	probably null
R3979:Zfp563	UTSW	17	33105727	missense	probably benign	0.03
R4938:Zfp563	UTSW	17	33105709	missense	probably damaging	1.00
R5280:Zfp563	UTSW	17	33104838	missense	probably damaging	0.99
R5383:Zfp563	UTSW	17	33104707	missense	probably benign
R5485:Zfp563	UTSW	17	33089566	unclassified	probably benign
R5524:Zfp563	UTSW	17	33102541	critical splice acceptor site	probably null
R5567:Zfp563	UTSW	17	33089457	unclassified	probably benign
R5736:Zfp563	UTSW	17	33104986	missense	possibly damaging	0.91
R5758:Zfp563	UTSW	17	33104920	missense	probably damaging	1.00
R6034:Zfp563	UTSW	17	33104961	missense	probably damaging	0.96
R6034:Zfp563	UTSW	17	33104961	missense	probably damaging	0.96
R6532:Zfp563	UTSW	17	33105698	missense	probably benign	0.21
R9241:Zfp563	UTSW	17	33102546	missense	probably benign	0.10
R9360:Zfp563	UTSW	17	33105454	missense	probably benign	0.38
R9410:Zfp563	UTSW	17	33102346	missense	probably damaging	1.00
R9453:Zfp563	UTSW	17	33089591	missense
RF007:Zfp563	UTSW	17	33105025	missense	probably benign
X0023:Zfp563	UTSW	17	33105721	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGCACAGCAAGAAGCAAGACT -3'
(R):5'- AATGGTGTGGGTATTTCCATGTTTCAGA -3'

Sequencing Primer
(F):5'- GCATAATGGCATGGGCATTC -3'
(R):5'- CCATGTTTCAGATAGCACTCAGG -3'

Posted On

2013-06-11