Mutagenetix > Incidental Mutation

Incidental Mutation 'R7759:Zfp568'

597725

Institutional Source

Beutler Lab

Gene Symbol

Zfp568

Ensembl Gene

ENSMUSG00000074221

Gene Name

zinc finger protein 568

Synonyms

chato, LOC381866

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7759 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29983955-30028282 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30023414 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 595 (A595T)

Ref Sequence

ENSEMBL: ENSMUSP00000118387 (fasta)

Gene Model

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

AlphaFold

E9PYI1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074322
AA Change: A595T

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000073930
Gene: ENSMUSG00000074221
AA Change: A595T

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: A594T

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000118823
Gene: ENSMUSG00000074221
AA Change: A594T

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

possibly damaging
Transcript: ENSMUST00000148442
AA Change: A595T

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000118387
Gene: ENSMUSG00000074221
AA Change: A595T

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: A594T

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137438
Gene: ENSMUSG00000074221
AA Change: A594T

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	G	T	16: 4,864,650	G215V	probably benign	Het
Adamts1	C	A	16: 85,797,795	G652C	probably damaging	Het
Adck1	G	A	12: 88,402,117	A122T	possibly damaging	Het
Akap1	A	C	11: 88,845,833	M34R	probably damaging	Het
Apc2	C	T	10: 80,311,196	R695C	probably damaging	Het
Apon	T	A	10: 128,254,515	W21R	probably benign	Het
Arhgef16	T	C	4: 154,286,975	T254A	probably benign	Het
Arid5b	T	A	10: 68,097,802	S757C	probably damaging	Het
B020004C17Rik	A	C	14: 57,016,785	I122L	possibly damaging	Het
Bckdhb	T	G	9: 84,010,326	V270G	probably damaging	Het
Cacna1d	A	G	14: 30,099,188	Y1146H	probably benign	Het
Carmil2	A	G	8: 105,697,036	D1214G	possibly damaging	Het
Ccdc142	T	C	6: 83,107,931	V636A	probably benign	Het
Chd9	T	C	8: 90,977,550		probably null	Het
Csmd3	A	G	15: 47,698,173	S1336P		Het
Cubn	A	G	2: 13,348,150	Y1926H	probably damaging	Het
Ddx58	C	A	4: 40,225,104	A298S	probably damaging	Het
Dock4	A	T	12: 40,817,736	D1437V	probably damaging	Het
Eme1	A	T	11: 94,645,840	Y504*	probably null	Het
Enah	G	A	1: 181,918,444	A687V	unknown	Het
Endou	A	C	15: 97,713,866	V339G	probably damaging	Het
Ephb6	G	A	6: 41,614,605	R232H	probably benign	Het
Ephx2	G	A	14: 66,089,519	A409V	possibly damaging	Het
Esd	T	A	14: 74,745,567	C219*	probably null	Het
Fscb	A	T	12: 64,474,092	M200K	probably benign	Het
Gabra6	A	T	11: 42,317,681	V108D	probably damaging	Het
Gm11555	A	G	11: 99,649,742	V137A	unknown	Het
Gpld1	A	G	13: 24,962,400	D209G	probably damaging	Het
Ikzf1	T	A	11: 11,769,256	I408N	probably damaging	Het
Itgb4	A	G	11: 116,003,710	R1364G	possibly damaging	Het
Kif26b	A	C	1: 178,678,944	K195T	probably damaging	Het
Mfsd12	T	C	10: 81,363,593	W440R	probably benign	Het
Mtrr	C	T	13: 68,570,027	E373K	probably damaging	Het
Mug2	T	A	6: 122,081,358	V1293E	probably damaging	Het
Myof	C	A	19: 37,939,898	A1068S	probably benign	Het
Ncam2	A	G	16: 81,615,784	D720G	probably damaging	Het
Nova2	G	T	7: 18,958,251	G435V		Het
Oacyl	T	A	18: 65,710,560	D109E	probably damaging	Het
Olfr1393	A	T	11: 49,280,636	M163L	probably benign	Het
Olfr684	G	A	7: 105,157,025	S219F	probably damaging	Het
Pdcd11	G	A	19: 47,113,198	V941M	possibly damaging	Het
Pdzd8	C	A	19: 59,299,926	R1014L	probably damaging	Het
Ppm1h	T	G	10: 122,904,113	D364E	probably benign	Het
Rp1	T	C	1: 4,344,884	N2002D	probably benign	Het
Sall1	C	T	8: 89,042,351		probably null	Het
Scn10a	C	T	9: 119,648,132	W728*	probably null	Het
Setdb2	G	T	14: 59,419,364	T168K	probably damaging	Het
Sgms1	T	C	19: 32,159,876	I97V	probably benign	Het
Slc8a3	A	T	12: 81,314,551	M498K	probably benign	Het
Smpd4	A	T	16: 17,638,633	E362D	probably damaging	Het
Ssc5d	A	T	7: 4,937,530	K881*	probably null	Het
Strn4	A	G	7: 16,830,384	E313G	probably damaging	Het
Tas2r113	A	T	6: 132,893,927	N306I	possibly damaging	Het
Tdrd6	G	T	17: 43,624,839	R1773S	probably benign	Het
Thbs2	T	C	17: 14,677,059	E729G	probably damaging	Het
Tnfrsf23	G	A	7: 143,670,835	T135I	probably damaging	Het
Tollip	A	G	7: 141,884,539	M218T	probably benign	Het
Tyk2	A	T	9: 21,120,258		probably null	Het
Ubr2	G	A	17: 46,986,048	R269C	probably damaging	Het
Uggt1	A	T	1: 36,146,725	M1459K	possibly damaging	Het
Upf1	A	G	8: 70,334,080	V929A	probably benign	Het
Usp48	T	C	4: 137,594,452	S24P	probably benign	Het
Vmn1r214	G	A	13: 23,034,461	E42K	not run	Het
Vmn1r83	G	T	7: 12,321,433	D232E	probably benign	Het
Vmn2r25	C	T	6: 123,823,380	V668I	probably damaging	Het
Vmn2r6	A	G	3: 64,556,570	I281T	probably damaging	Het
Ywhag	A	T	5: 135,911,189	Y184N	probably damaging	Het
Zdbf2	A	C	1: 63,308,376	E1971D	possibly damaging	Het
Zfy2	T	C	Y: 2,117,083	D248G	probably benign	Het

Other mutations in Zfp568

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00573:Zfp568	APN	7	30022440	missense	possibly damaging	0.66
IGL00792:Zfp568	APN	7	30015072	missense	probably benign	0.00
IGL01133:Zfp568	APN	7	29987808	critical splice donor site	probably null
IGL01330:Zfp568	APN	7	30022277	missense	probably benign	0.01
IGL03157:Zfp568	APN	7	30022764	missense	probably damaging	1.00
R0739:Zfp568	UTSW	7	30023321	missense	probably damaging	1.00
R1051:Zfp568	UTSW	7	30022529	nonsense	probably null
R1967:Zfp568	UTSW	7	29989088	missense	probably damaging	0.99
R2038:Zfp568	UTSW	7	29989082	missense	probably null	1.00
R3874:Zfp568	UTSW	7	30023396	missense	probably damaging	1.00
R4438:Zfp568	UTSW	7	30022296	missense	probably benign
R4584:Zfp568	UTSW	7	29998192	missense	probably benign	0.04
R4667:Zfp568	UTSW	7	30023277	missense	probably damaging	1.00
R4669:Zfp568	UTSW	7	30023277	missense	probably damaging	1.00
R4773:Zfp568	UTSW	7	29997770	missense	probably damaging	1.00
R4791:Zfp568	UTSW	7	30015183	missense	probably damaging	1.00
R5250:Zfp568	UTSW	7	30017230	missense	probably benign	0.12
R5541:Zfp568	UTSW	7	30022876	missense	possibly damaging	0.81
R5956:Zfp568	UTSW	7	29997863	missense	probably damaging	1.00
R6444:Zfp568	UTSW	7	30017257	missense	probably benign	0.01
R6600:Zfp568	UTSW	7	30022523	missense	possibly damaging	0.71
R7299:Zfp568	UTSW	7	30017244	missense	probably benign	0.34
R7316:Zfp568	UTSW	7	30022256	missense	possibly damaging	0.95
R7562:Zfp568	UTSW	7	30023256	missense	probably benign	0.04
R7664:Zfp568	UTSW	7	30022290	missense	probably benign
R7672:Zfp568	UTSW	7	29997787	missense	probably damaging	0.99
R7790:Zfp568	UTSW	7	30022725	missense	probably damaging	1.00
R7811:Zfp568	UTSW	7	29997870	missense	possibly damaging	0.95
R8110:Zfp568	UTSW	7	30023126	missense	probably damaging	1.00
R8194:Zfp568	UTSW	7	30023333	missense	probably damaging	1.00
R8254:Zfp568	UTSW	7	30015133	missense	probably benign	0.22
R8319:Zfp568	UTSW	7	29998204	missense	possibly damaging	0.72
R8836:Zfp568	UTSW	7	30023034	missense	probably damaging	0.98
R8902:Zfp568	UTSW	7	30013882	missense	probably benign	0.08
R8978:Zfp568	UTSW	7	30017258	missense	probably benign	0.01
R9676:Zfp568	UTSW	7	30022398	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- AGGTGTATAGCTGTGCCTCC -3'
(R):5'- AAGGCCTTCCCACATTGCTG -3'

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

Posted On

2019-11-26