Mutagenetix > Incidental Mutations

Incidental Mutation 'R5541:Zfp568'

435960

Institutional Source

Beutler Lab

Gene Symbol

Zfp568

Ensembl Gene

ENSMUSG00000074221

Gene Name

zinc finger protein 568

Synonyms

chato, LOC381866

MMRRC Submission

043099-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5541 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29983955-30028282 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30022876 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 414 (D414E)

Ref Sequence

ENSEMBL: ENSMUSP00000137438 (fasta)

Gene Model

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

AlphaFold

E9PYI1

Predicted Effect

probably benign
Transcript: ENSMUST00000074322
AA Change: D415E

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000073930
Gene: ENSMUSG00000074221
AA Change: D415E

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: D414E

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000118823
Gene: ENSMUSG00000074221
AA Change: D414E

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 benign
Transcript: ENSMUST00000148442
AA Change: D415E

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000118387
Gene: ENSMUSG00000074221
AA Change: D415E

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: D414E

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000137438
Gene: ENSMUSG00000074221
AA Change: D414E

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

Meta Mutation Damage Score

0.1368

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.2%

Validation Efficiency

100% (63/63)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009B22Rik	T	C	11: 51,685,969	H34R	probably benign	Het
1700113H08Rik	A	G	10: 87,225,946	K86R	probably benign	Het
Abca13	T	C	11: 9,291,545	V1136A	probably benign	Het
Als2cr12	A	G	1: 58,658,429	M384T	probably benign	Het
Arfgap2	G	A	2: 91,275,769	R530H	probably benign	Het
Arhgap30	T	C	1: 171,404,139		probably null	Het
Asb7	T	C	7: 66,679,269	R8G	probably benign	Het
Bod1l	T	C	5: 41,791,933	N2949D	probably benign	Het
Ccdc86	T	C	19: 10,948,554	E227G	probably damaging	Het
Cercam	A	G	2: 29,875,629	D261G	probably benign	Het
Chd9	A	T	8: 91,051,504	E2714D	probably benign	Het
Dcp1a	T	A	14: 30,502,839	S126R	probably damaging	Het
Defa17	T	A	8: 21,656,549	C64S	probably damaging	Het
Depdc5	A	T	5: 32,864,629		probably benign	Het
Dhx29	A	G	13: 112,940,374	N259S	possibly damaging	Het
Dnah6	A	T	6: 73,192,988	L323Q	possibly damaging	Het
Dnah9	T	C	11: 66,145,336	Y416C	probably damaging	Het
Faap100	T	A	11: 120,377,632	E105V	possibly damaging	Het
Fbxw15	T	G	9: 109,565,430	I106L	probably benign	Het
Gm10610	A	G	7: 83,549,406		noncoding transcript	Het
Gpr22	A	G	12: 31,709,349	F258S	probably damaging	Het
Grip1	A	T	10: 120,072,718	I618F	probably damaging	Het
H2afy2	T	C	10: 61,747,717	I215V	probably benign	Het
Hspg2	C	T	4: 137,520,551	T1233I	probably damaging	Het
Hspg2	C	A	4: 137,542,825	Q2365K	probably benign	Het
Intu	A	G	3: 40,692,587		probably null	Het
Kdm1b	T	C	13: 47,079,196	M714T	probably damaging	Het
Kif21a	A	G	15: 90,968,113	M924T	probably damaging	Het
Klb	A	T	5: 65,379,234	M636L	probably benign	Het
Klrb1a	G	A	6: 128,609,736	H219Y	probably benign	Het
March10	C	T	11: 105,390,131	D443N	probably damaging	Het
Nos1	A	G	5: 117,905,394	E578G	probably damaging	Het
Olfr1502	T	C	19: 13,861,964	I57T	probably benign	Het
Olfr887	T	C	9: 38,085,123	C96R	probably damaging	Het
Pard3b	A	G	1: 61,639,343	Y34C	probably damaging	Het
Pcdh17	T	A	14: 84,447,416	V441E	probably damaging	Het
Pde6g	A	T	11: 120,448,172	I64N	probably damaging	Het
Pdia4	C	T	6: 47,796,637	V593M	probably damaging	Het
Pnn	T	G	12: 59,071,930	V433G	possibly damaging	Het
Rbak	G	A	5: 143,173,990	S436F	probably damaging	Het
Rpl11	A	G	4: 136,052,732		probably benign	Het
Ryr1	G	T	7: 29,086,185	Q1701K	probably damaging	Het
Scn1a	T	A	2: 66,324,633	T661S	probably benign	Het
Smg1	T	A	7: 118,157,163		probably benign	Het
St8sia2	T	C	7: 73,966,900	D109G	probably benign	Het
Stk-ps1	T	A	17: 36,398,213		noncoding transcript	Het
Stxbp3-ps	C	T	19: 9,557,970		noncoding transcript	Het
Taf1d	T	A	9: 15,308,850	F132I	probably damaging	Het
Tfap2b	A	G	1: 19,214,026	S35G	possibly damaging	Het
Tnk2	C	T	16: 32,669,523	T198I	probably benign	Het
Ube2q2	T	A	9: 55,191,879	V168E	possibly damaging	Het
Ucma	A	G	2: 4,981,330	R105G	probably benign	Het
Vmn2r97	C	T	17: 18,928,355	Q171*	probably null	Het
Wapl	T	C	14: 34,730,662		probably null	Het
Zfand4	T	A	6: 116,314,295	C397S	possibly damaging	Het
Zfhx3	A	G	8: 108,948,951	N2211S	probably damaging	Het
Zfp143	G	T	7: 110,070,480	G39C	probably benign	Het
Zfp574	C	T	7: 25,081,950	A799V	probably damaging	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
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
R7759:Zfp568	UTSW	7	30023414	missense	possibly damaging	0.66
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

Predicted Primers

PCR Primer
(F):5'- TGGTCCTGACACCTCGAAAC -3'
(R):5'- TTGTCACAGTCCTTACACTCAAAG -3'

Sequencing Primer
(F):5'- GAAACCTCAGAGCGCTCAGG -3'
(R):5'- TTACACTCAAAGCGCCGTG -3'

Posted On

2016-10-24