Mutagenetix > Incidental Mutation

Incidental Mutation 'R3874:Zfp568'

276720

Institutional Source

Beutler Lab

Gene Symbol

Zfp568

Ensembl Gene

ENSMUSG00000074221

Gene Name

zinc finger protein 568

Synonyms

chato, LOC381866

MMRRC Submission

040792-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3874 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29683380-29727707 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29722821 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 589 (C589S)

Ref Sequence

ENSEMBL: ENSMUSP00000118387 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074322] [ENSMUST00000146074] [ENSMUST00000148442] [ENSMUST00000177931]

AlphaFold

E9PYI1

Predicted Effect

probably damaging
Transcript: ENSMUST00000074322
AA Change: C589S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000073930
Gene: ENSMUSG00000074221
AA Change: C589S

Domain	Start	End	E-Value	Type
KRAB	34	94	2.73e-39	SMART
KRAB	124	184	2.01e-28	SMART
ZnF_C2H2	363	385	7.78e-3	SMART
ZnF_C2H2	391	413	3.95e-4	SMART
ZnF_C2H2	419	441	3.44e-4	SMART
ZnF_C2H2	447	469	2.2e-2	SMART
ZnF_C2H2	475	497	6.67e-2	SMART
ZnF_C2H2	503	525	6.32e-3	SMART
ZnF_C2H2	531	553	4.87e-4	SMART
ZnF_C2H2	559	581	2.09e-3	SMART
ZnF_C2H2	587	609	2.95e-3	SMART
ZnF_C2H2	615	637	3.69e-4	SMART
ZnF_C2H2	643	665	1.12e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000146074
AA Change: C588S

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000118823
Gene: ENSMUSG00000074221
AA Change: C588S

Domain	Start	End	E-Value	Type
KRAB	34	94	2.73e-39	SMART
KRAB	123	183	2.01e-28	SMART
ZnF_C2H2	362	384	7.78e-3	SMART
ZnF_C2H2	390	412	3.95e-4	SMART
ZnF_C2H2	418	440	3.44e-4	SMART
ZnF_C2H2	446	468	2.2e-2	SMART
ZnF_C2H2	474	496	6.67e-2	SMART
ZnF_C2H2	502	524	6.32e-3	SMART
ZnF_C2H2	530	552	4.87e-4	SMART
ZnF_C2H2	558	580	2.09e-3	SMART
ZnF_C2H2	586	608	2.95e-3	SMART
ZnF_C2H2	614	636	3.69e-4	SMART
ZnF_C2H2	642	664	1.12e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000148442
AA Change: C589S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118387
Gene: ENSMUSG00000074221
AA Change: C589S

Domain	Start	End	E-Value	Type
KRAB	34	94	2.73e-39	SMART
KRAB	124	184	2.01e-28	SMART
ZnF_C2H2	363	385	7.78e-3	SMART
ZnF_C2H2	391	413	3.95e-4	SMART
ZnF_C2H2	419	441	3.44e-4	SMART
ZnF_C2H2	447	469	2.2e-2	SMART
ZnF_C2H2	475	497	6.67e-2	SMART
ZnF_C2H2	503	525	6.32e-3	SMART
ZnF_C2H2	531	553	4.87e-4	SMART
ZnF_C2H2	559	581	2.09e-3	SMART
ZnF_C2H2	587	609	2.95e-3	SMART
ZnF_C2H2	615	637	3.69e-4	SMART
ZnF_C2H2	643	665	1.12e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177931
AA Change: C588S

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137438
Gene: ENSMUSG00000074221
AA Change: C588S

Domain	Start	End	E-Value	Type
KRAB	34	94	2.73e-39	SMART
KRAB	123	183	2.01e-28	SMART
ZnF_C2H2	362	384	7.78e-3	SMART
ZnF_C2H2	390	412	3.95e-4	SMART
ZnF_C2H2	418	440	3.44e-4	SMART
ZnF_C2H2	446	468	2.2e-2	SMART
ZnF_C2H2	474	496	6.67e-2	SMART
ZnF_C2H2	502	524	6.32e-3	SMART
ZnF_C2H2	530	552	4.87e-4	SMART
ZnF_C2H2	558	580	2.09e-3	SMART
ZnF_C2H2	586	608	2.95e-3	SMART
ZnF_C2H2	614	636	3.69e-4	SMART
ZnF_C2H2	642	664	1.12e-3	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mutants are embryonic lethal with growth arrest around E8.5-9.0. Mutant embryo shows shortened anterior-posterior axial extension with defects in somites and midline structures including open gut tube, cardia bifida, and failure to closeneural tube. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130213A22Rik	C	A	11: 69,012,301 (GRCm39)	G26*	probably null	Het
Abca5	T	A	11: 110,201,059 (GRCm39)	Y447F	probably damaging	Het
Acox2	A	G	14: 8,248,061 (GRCm38)	I407T	probably benign	Het
Adam8	T	C	7: 139,567,520 (GRCm39)	N408D	probably damaging	Het
Adgre1	A	T	17: 57,708,925 (GRCm39)	T39S	probably benign	Het
Akap12	G	A	10: 4,307,590 (GRCm39)	V1467I	probably benign	Het
Arid1b	T	A	17: 5,386,790 (GRCm39)		probably null	Het
Atp2c2	A	G	8: 120,462,035 (GRCm39)	I303V	possibly damaging	Het
Bpifc	C	T	10: 85,827,118 (GRCm39)	V144I	probably benign	Het
Camk4	A	G	18: 33,291,907 (GRCm39)	E189G	possibly damaging	Het
Casz1	A	G	4: 149,024,046 (GRCm39)		probably benign	Het
Ccdc134	T	C	15: 82,015,643 (GRCm39)	V41A	possibly damaging	Het
Chrd	A	T	16: 20,557,660 (GRCm39)	T753S	probably damaging	Het
Cracd	A	G	5: 76,988,739 (GRCm39)	D30G	probably damaging	Het
Cyb561a3	T	C	19: 10,562,735 (GRCm39)	V125A	probably benign	Het
D630039A03Rik	T	A	4: 57,910,606 (GRCm39)	T69S	probably benign	Het
Dchs1	A	G	7: 105,410,842 (GRCm39)	F1687S	probably damaging	Het
Dlgap4	T	C	2: 156,591,267 (GRCm39)	S818P	probably benign	Het
Dnah2	A	G	11: 69,320,174 (GRCm39)	I3965T	probably damaging	Het
Dnai2	G	T	11: 114,623,781 (GRCm39)	G15W	probably damaging	Het
Dsg1c	A	G	18: 20,410,109 (GRCm39)	I526V	probably benign	Het
Far2	G	A	6: 148,052,089 (GRCm39)	E123K	probably benign	Het
Gli1	A	T	10: 127,166,088 (GRCm39)	V1055E	probably damaging	Het
Hand2	G	T	8: 57,775,011 (GRCm39)	A24S	probably benign	Het
Helb	T	C	10: 119,941,942 (GRCm39)	I249V	probably benign	Het
Hspa4l	G	A	3: 40,727,074 (GRCm39)	V492M	probably damaging	Het
Hspg2	T	C	4: 137,266,660 (GRCm39)	I1916T	probably damaging	Het
Igfals	G	A	17: 25,100,579 (GRCm39)	V557I	possibly damaging	Het
Itpa	T	G	2: 130,522,930 (GRCm39)	S176A	probably damaging	Het
Kcnu1	T	A	8: 26,375,345 (GRCm39)	L353H	probably damaging	Het
Klhl1	A	G	14: 96,755,615 (GRCm39)	F47L	probably benign	Het
Klhl13	T	C	X: 23,151,415 (GRCm39)	D21G	probably benign	Het
Krt26	T	C	11: 99,225,570 (GRCm39)	K304E	probably damaging	Het
Krt9	C	T	11: 100,081,675 (GRCm39)	V285I	probably damaging	Het
Mansc1	T	C	6: 134,587,146 (GRCm39)	R344G	possibly damaging	Het
Mier2	G	T	10: 79,377,631 (GRCm39)	P439T	possibly damaging	Het
Mppe1	T	A	18: 67,358,957 (GRCm39)		probably null	Het
Nedd4l	G	A	18: 65,300,606 (GRCm39)	A243T	probably benign	Het
Notch4	T	A	17: 34,797,043 (GRCm39)	C934*	probably null	Het
Nsmce3	C	T	7: 64,521,916 (GRCm39)	D251N	probably damaging	Het
Or10a49	C	T	7: 108,468,335 (GRCm39)	V9M	probably damaging	Het
Or12d12	T	A	17: 37,610,870 (GRCm39)	T148S	probably benign	Het
Or3a10	A	G	11: 73,935,525 (GRCm39)	C192R	probably damaging	Het
Or4f6	T	C	2: 111,838,668 (GRCm39)	T288A	possibly damaging	Het
Or5l13	T	A	2: 87,779,874 (GRCm39)	R234S	probably damaging	Het
Or8g23	A	G	9: 38,971,470 (GRCm39)	I164T	probably benign	Het
Pdzd7	T	C	19: 45,034,067 (GRCm39)	T6A	probably benign	Het
Picalm	T	A	7: 89,838,427 (GRCm39)	F493Y	probably damaging	Het
Prl7d1	A	G	13: 27,900,651 (GRCm39)	M1T	probably null	Het
Prl8a1	T	C	13: 27,759,441 (GRCm39)	K199E	possibly damaging	Het
Rims1	C	T	1: 22,498,740 (GRCm39)	R764H	probably damaging	Het
Rnf17	G	T	14: 56,712,870 (GRCm39)	R779L	possibly damaging	Het
Rufy2	T	C	10: 62,833,916 (GRCm39)	L294P	probably damaging	Het
Sgsh	A	G	11: 119,241,773 (GRCm39)	L111P	probably damaging	Het
Slc22a30	G	T	19: 8,314,213 (GRCm39)	T491K	probably benign	Het
Slc35b3	T	C	13: 39,127,044 (GRCm39)	N20D	possibly damaging	Het
Slc5a4a	T	C	10: 76,017,489 (GRCm39)	F429L	probably benign	Het
Sulf1	T	C	1: 12,887,636 (GRCm39)	I270T	probably damaging	Het
Tmem51	T	C	4: 141,759,059 (GRCm39)	T230A	probably damaging	Het
Tnc	T	A	4: 63,926,947 (GRCm39)	I860F	probably damaging	Het
Trh	A	T	6: 92,220,679 (GRCm39)	V61E	possibly damaging	Het
Ttn	T	G	2: 76,584,443 (GRCm39)	T22222P	probably damaging	Het
Uroc1	A	T	6: 90,338,494 (GRCm39)	K652*	probably null	Het
Usp34	C	T	11: 23,439,033 (GRCm39)	P3532S	possibly damaging	Het
Vmn2r120	A	T	17: 57,831,954 (GRCm39)	F278L	probably benign	Het
Vmn2r7	A	G	3: 64,627,032 (GRCm39)	F86L	possibly damaging	Het
Vmn2r87	A	T	10: 130,315,856 (GRCm39)	I70K	possibly damaging	Het
Vps13a	C	T	19: 16,722,317 (GRCm39)	A332T	probably benign	Het

Other mutations in Zfp568

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00573:Zfp568	APN	7	29,721,865 (GRCm39)	missense	possibly damaging	0.66
IGL00792:Zfp568	APN	7	29,714,497 (GRCm39)	missense	probably benign	0.00
IGL01133:Zfp568	APN	7	29,687,233 (GRCm39)	critical splice donor site	probably null
IGL01330:Zfp568	APN	7	29,721,702 (GRCm39)	missense	probably benign	0.01
IGL03157:Zfp568	APN	7	29,722,189 (GRCm39)	missense	probably damaging	1.00
R0739:Zfp568	UTSW	7	29,722,746 (GRCm39)	missense	probably damaging	1.00
R1051:Zfp568	UTSW	7	29,721,954 (GRCm39)	nonsense	probably null
R1967:Zfp568	UTSW	7	29,688,513 (GRCm39)	missense	probably damaging	0.99
R2038:Zfp568	UTSW	7	29,688,507 (GRCm39)	missense	probably null	1.00
R4438:Zfp568	UTSW	7	29,721,721 (GRCm39)	missense	probably benign
R4584:Zfp568	UTSW	7	29,697,617 (GRCm39)	missense	probably benign	0.04
R4667:Zfp568	UTSW	7	29,722,702 (GRCm39)	missense	probably damaging	1.00
R4669:Zfp568	UTSW	7	29,722,702 (GRCm39)	missense	probably damaging	1.00
R4773:Zfp568	UTSW	7	29,697,195 (GRCm39)	missense	probably damaging	1.00
R4791:Zfp568	UTSW	7	29,714,608 (GRCm39)	missense	probably damaging	1.00
R5250:Zfp568	UTSW	7	29,716,655 (GRCm39)	missense	probably benign	0.12
R5541:Zfp568	UTSW	7	29,722,301 (GRCm39)	missense	possibly damaging	0.81
R5956:Zfp568	UTSW	7	29,697,288 (GRCm39)	missense	probably damaging	1.00
R6444:Zfp568	UTSW	7	29,716,682 (GRCm39)	missense	probably benign	0.01
R6600:Zfp568	UTSW	7	29,721,948 (GRCm39)	missense	possibly damaging	0.71
R7299:Zfp568	UTSW	7	29,716,669 (GRCm39)	missense	probably benign	0.34
R7316:Zfp568	UTSW	7	29,721,681 (GRCm39)	missense	possibly damaging	0.95
R7562:Zfp568	UTSW	7	29,722,681 (GRCm39)	missense	probably benign	0.04
R7664:Zfp568	UTSW	7	29,721,715 (GRCm39)	missense	probably benign
R7672:Zfp568	UTSW	7	29,697,212 (GRCm39)	missense	probably damaging	0.99
R7759:Zfp568	UTSW	7	29,722,839 (GRCm39)	missense	possibly damaging	0.66
R7790:Zfp568	UTSW	7	29,722,150 (GRCm39)	missense	probably damaging	1.00
R7811:Zfp568	UTSW	7	29,697,295 (GRCm39)	missense	possibly damaging	0.95
R8110:Zfp568	UTSW	7	29,722,551 (GRCm39)	missense	probably damaging	1.00
R8194:Zfp568	UTSW	7	29,722,758 (GRCm39)	missense	probably damaging	1.00
R8254:Zfp568	UTSW	7	29,714,558 (GRCm39)	missense	probably benign	0.22
R8319:Zfp568	UTSW	7	29,697,629 (GRCm39)	missense	possibly damaging	0.72
R8836:Zfp568	UTSW	7	29,722,459 (GRCm39)	missense	probably damaging	0.98
R8902:Zfp568	UTSW	7	29,713,307 (GRCm39)	missense	probably benign	0.08
R8978:Zfp568	UTSW	7	29,716,683 (GRCm39)	missense	probably benign	0.01
R9676:Zfp568	UTSW	7	29,721,823 (GRCm39)	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- AAGGTGTATAGCTGTGCCTCC -3'
(R):5'- GCACTTATAGGGCTTCTCACC -3'

Sequencing Primer
(F):5'- GGGAAAGGCTTCATCTCTGACTC -3'
(R):5'- ATAGGGCTTCTCACCGGTGTG -3'

Posted On

2015-04-06