Mutagenetix > Incidental Mutation

Incidental Mutation 'R9241:Zfp563'

700768

Institutional Source

Beutler Lab

Gene Symbol

Zfp563

Ensembl Gene

ENSMUSG00000067424

Gene Name

zinc finger protein 563

Synonyms

zinc finger protein, Zfp413

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R9241 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33308284-33329679 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33321520 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 45 (Q45L)

Ref Sequence

ENSEMBL: ENSMUSP00000118809 (fasta)

Gene Model

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

AlphaFold

B8JJZ9

Predicted Effect

probably benign
Transcript: ENSMUST00000131722
AA Change: Q45L

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000118809
Gene: ENSMUSG00000067424
AA Change: Q45L

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

SMART Domains

Protein: ENSMUSP00000121678
Gene: ENSMUSG00000067424
AA Change: Q45L

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

SMART Domains

Protein: ENSMUSP00000119142
Gene: ENSMUSG00000067424
AA Change: Q85L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	A	G	8: 117,697,937 (GRCm39)	L390P	probably damaging	Het
AL732309.1	T	A	2: 25,135,919 (GRCm39)	E98D	possibly damaging	Het
Aldh2	T	C	5: 121,710,220 (GRCm39)	I372V	probably benign	Het
Amph	G	T	13: 19,278,972 (GRCm39)	R149L	probably damaging	Het
Ano6	T	C	15: 95,688,887 (GRCm39)	V8A	probably benign	Het
Aox4	T	A	1: 58,291,345 (GRCm39)	V821E	probably damaging	Het
Baz2b	T	A	2: 59,743,993 (GRCm39)	Q1504L	probably benign	Het
Cdcp1	C	A	9: 123,014,301 (GRCm39)	G158W	probably damaging	Het
Cryge	T	G	1: 65,088,018 (GRCm39)	D97A	possibly damaging	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Dyrk1b	A	G	7: 27,886,058 (GRCm39)	T594A	probably benign	Het
Emilin3	T	C	2: 160,750,177 (GRCm39)	D477G	possibly damaging	Het
Fat2	T	C	11: 55,147,566 (GRCm39)	H3892R	probably benign	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Gm9922	A	T	14: 101,967,220 (GRCm39)	S11T	unknown	Het
Hcfc2	T	C	10: 82,568,485 (GRCm39)	V43A	probably benign	Het
Hcn1	T	C	13: 117,793,249 (GRCm39)	F167S	probably benign	Het
Jag1	T	C	2: 136,926,507 (GRCm39)	I1012M	probably damaging	Het
Kash5	A	G	7: 44,833,313 (GRCm39)	I603T	probably benign	Het
Lepr	G	T	4: 101,671,788 (GRCm39)	M937I	probably benign	Het
Macf1	T	C	4: 123,271,952 (GRCm39)	D6532G	probably damaging	Het
Mapk13	A	T	17: 28,990,187 (GRCm39)	D102V	probably damaging	Het
Mapt	A	T	11: 104,189,797 (GRCm39)	T272S	probably benign	Het
Mfap3	A	G	11: 57,420,672 (GRCm39)	T218A	probably damaging	Het
Mki67	A	T	7: 135,297,653 (GRCm39)	H2460Q	possibly damaging	Het
Nalcn	G	T	14: 123,809,429 (GRCm39)	P241Q	probably benign	Het
Nup50	A	G	15: 84,822,611 (GRCm39)	T378A	possibly damaging	Het
Oprl1	C	T	2: 181,360,405 (GRCm39)	R154C	probably damaging	Het
Or2n1e	A	G	17: 38,585,781 (GRCm39)	M40V	probably benign	Het
Pcdha8	C	T	18: 37,127,008 (GRCm39)	R497W	probably damaging	Het
Pik3c2a	A	G	7: 116,017,115 (GRCm39)	V214A	probably benign	Het
Plekha5	T	C	6: 140,525,204 (GRCm39)		probably null	Het
Pole3	A	G	4: 62,442,845 (GRCm39)		probably benign	Het
Prkn	A	T	17: 11,456,382 (GRCm39)	I69L	probably benign	Het
Psd3	G	T	8: 68,415,967 (GRCm39)	N357K	probably benign	Het
Psme4	A	T	11: 30,815,576 (GRCm39)	D1696V	probably damaging	Het
Reln	C	T	5: 22,174,067 (GRCm39)	R2012Q	probably damaging	Het
Saxo2	T	C	7: 82,284,250 (GRCm39)	T203A	probably benign	Het
Scgb1a1	T	C	19: 9,065,293 (GRCm39)		probably benign	Het
Selplg	T	A	5: 113,957,647 (GRCm39)	N220Y	possibly damaging	Het
Septin9	C	A	11: 117,109,724 (GRCm39)	R15S	probably benign	Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Smarca4	T	G	9: 21,550,604 (GRCm39)	S446A	possibly damaging	Het
Smc1b	T	C	15: 84,976,209 (GRCm39)	N833D	probably benign	Het
Son	T	A	16: 91,454,122 (GRCm39)	D956E	probably damaging	Het
Sorl1	A	T	9: 41,885,420 (GRCm39)	Y2060*	probably null	Het
Tesmin	T	C	19: 3,439,010 (GRCm39)	F21L	probably benign	Het
Tmem200c	G	T	17: 69,144,161 (GRCm39)		probably benign	Het
Tnk2	A	C	16: 32,488,916 (GRCm39)	D252A	probably damaging	Het
Tpcn1	C	T	5: 120,691,558 (GRCm39)	V299I	probably benign	Het
Trpv1	A	G	11: 73,151,182 (GRCm39)	N790S	probably benign	Het
Zfhx4	C	T	3: 5,308,697 (GRCm39)	T641I	probably damaging	Het
Zswim9	A	T	7: 13,003,360 (GRCm39)	D163E	probably damaging	Het

Other mutations in Zfp563

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01629:Zfp563	APN	17	33,323,600 (GRCm39)	missense	probably damaging	1.00
IGL01981:Zfp563	APN	17	33,324,383 (GRCm39)	missense	probably benign	0.16
IGL02407:Zfp563	APN	17	33,323,795 (GRCm39)	missense	probably benign	0.00
IGL02662:Zfp563	APN	17	33,321,253 (GRCm39)	missense	probably damaging	1.00
IGL03220:Zfp563	APN	17	33,323,661 (GRCm39)	missense	probably benign	0.44
R0241:Zfp563	UTSW	17	33,323,659 (GRCm39)	missense	possibly damaging	0.61
R0241:Zfp563	UTSW	17	33,323,659 (GRCm39)	missense	possibly damaging	0.61
R0537:Zfp563	UTSW	17	33,323,659 (GRCm39)	missense	possibly damaging	0.61
R0552:Zfp563	UTSW	17	33,323,659 (GRCm39)	missense	possibly damaging	0.61
R1544:Zfp563	UTSW	17	33,324,187 (GRCm39)	missense	probably benign	0.01
R3763:Zfp563	UTSW	17	33,323,902 (GRCm39)	nonsense	probably null
R3979:Zfp563	UTSW	17	33,324,701 (GRCm39)	missense	probably benign	0.03
R4938:Zfp563	UTSW	17	33,324,683 (GRCm39)	missense	probably damaging	1.00
R5280:Zfp563	UTSW	17	33,323,812 (GRCm39)	missense	probably damaging	0.99
R5383:Zfp563	UTSW	17	33,323,681 (GRCm39)	missense	probably benign
R5485:Zfp563	UTSW	17	33,308,540 (GRCm39)	unclassified	probably benign
R5524:Zfp563	UTSW	17	33,321,515 (GRCm39)	critical splice acceptor site	probably null
R5567:Zfp563	UTSW	17	33,308,431 (GRCm39)	unclassified	probably benign
R5736:Zfp563	UTSW	17	33,323,960 (GRCm39)	missense	possibly damaging	0.91
R5758:Zfp563	UTSW	17	33,323,894 (GRCm39)	missense	probably damaging	1.00
R6034:Zfp563	UTSW	17	33,323,935 (GRCm39)	missense	probably damaging	0.96
R6034:Zfp563	UTSW	17	33,323,935 (GRCm39)	missense	probably damaging	0.96
R6532:Zfp563	UTSW	17	33,324,672 (GRCm39)	missense	probably benign	0.21
R9360:Zfp563	UTSW	17	33,324,428 (GRCm39)	missense	probably benign	0.38
R9410:Zfp563	UTSW	17	33,321,320 (GRCm39)	missense	probably damaging	1.00
R9453:Zfp563	UTSW	17	33,308,565 (GRCm39)	missense
RF007:Zfp563	UTSW	17	33,323,999 (GRCm39)	missense	probably benign
X0023:Zfp563	UTSW	17	33,324,695 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAACTGCTTGGAGAAGGTATCT -3'
(R):5'- GAAGATCAACTGTATCATCTTGTTAGT -3'

Sequencing Primer
(F):5'- GGATTTACTGGATCCTTCCCAGAAG -3'
(R):5'- GAATGTCTGTGCAACACCTG -3'

Posted On

2022-02-07