Mutagenetix > Incidental Mutation

Incidental Mutation 'R7299:Zfp568'

566863

Institutional Source

Beutler Lab

Gene Symbol

Zfp568

Ensembl Gene

ENSMUSG00000074221

Gene Name

zinc finger protein 568

Synonyms

chato, LOC381866

MMRRC Submission

045403-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7299 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29683380-29727707 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29716669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 190 (T190A)

Ref Sequence

ENSEMBL: ENSMUSP00000118387 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074322] [ENSMUST00000146074] [ENSMUST00000148442] [ENSMUST00000177931] [ENSMUST00000207940]

AlphaFold

E9PYI1

Predicted Effect

probably benign
Transcript: ENSMUST00000074322
AA Change: T190A

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000073930
Gene: ENSMUSG00000074221
AA Change: T190A

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: T189A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000118823
Gene: ENSMUSG00000074221
AA Change: T189A

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: T190A

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000118387
Gene: ENSMUSG00000074221
AA Change: T190A

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: T189A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000137438
Gene: ENSMUSG00000074221
AA Change: T189A

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: ENSMUST00000207940

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

99% (71/72)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	A	C	3: 121,473,095 (GRCm39)	K83N	unknown	Het
Abca13	A	T	11: 9,244,649 (GRCm39)	N2171Y	probably damaging	Het
Abcc8	G	A	7: 45,754,922 (GRCm39)	T1532I	possibly damaging	Het
Abtb2	A	T	2: 103,532,769 (GRCm39)		probably null	Het
Actmap	G	A	7: 26,900,548 (GRCm39)	A176T	probably damaging	Het
Agk	A	T	6: 40,306,451 (GRCm39)	T7S	possibly damaging	Het
Akap9	C	A	5: 4,082,696 (GRCm39)	T1940K	probably damaging	Het
Ccdc8	A	G	7: 16,729,956 (GRCm39)	T482A	unknown	Het
Cd2ap	G	A	17: 43,140,904 (GRCm39)	R212*	probably null	Het
Cenpt	G	A	8: 106,576,536 (GRCm39)	Q45*	probably null	Het
Cnga1	T	C	5: 72,762,775 (GRCm39)	I246M	probably benign	Het
Cnot7	A	G	8: 40,960,586 (GRCm39)	I74T	probably damaging	Het
Cog6	T	C	3: 52,909,928 (GRCm39)	S275G	probably benign	Het
Csmd2	C	A	4: 128,422,055 (GRCm39)	D2797E		Het
Ddx24	A	G	12: 103,385,709 (GRCm39)	M298T	possibly damaging	Het
Eif2b3	T	A	4: 116,910,019 (GRCm39)	S185T	probably benign	Het
Ergic2	T	A	6: 148,089,610 (GRCm39)	Y249F	probably damaging	Het
Exoc1	T	A	5: 76,690,006 (GRCm39)	M182K	probably damaging	Het
Fhdc1	T	C	3: 84,351,847 (GRCm39)	E1126G	probably damaging	Het
Gabrr2	T	A	4: 33,095,284 (GRCm39)	M391K	probably benign	Het
Gap43	T	C	16: 42,112,615 (GRCm39)	K49E	probably damaging	Het
Gata4	T	A	14: 63,441,191 (GRCm39)	T276S	probably damaging	Het
Gca	C	T	2: 62,520,320 (GRCm39)	P160L	probably benign	Het
Ghdc	C	T	11: 100,658,942 (GRCm39)	V397I	possibly damaging	Het
Gm3409	T	A	5: 146,476,357 (GRCm39)	D169E	probably benign	Het
Gtf3c3	G	A	1: 54,456,867 (GRCm39)	P511L	probably benign	Het
Hal	T	C	10: 93,328,423 (GRCm39)	V233A	probably benign	Het
Ighv1-4	T	C	12: 114,450,908 (GRCm39)	I67V	probably benign	Het
Itgb8	T	C	12: 119,166,196 (GRCm39)	N112D	probably benign	Het
Klhl38	G	A	15: 58,186,376 (GRCm39)	R118W	probably damaging	Het
Krtap26-1	T	C	16: 88,444,132 (GRCm39)	Y163C	possibly damaging	Het
Kyat1	T	C	2: 30,082,007 (GRCm39)	D44G	probably benign	Het
Mob1a	G	A	6: 83,315,431 (GRCm39)		probably null	Het
Mst1r	G	T	9: 107,791,989 (GRCm39)	A842S	possibly damaging	Het
Nhsl1	A	G	10: 18,403,419 (GRCm39)		probably null	Het
Nos1	A	T	5: 118,005,970 (GRCm39)	D230V	possibly damaging	Het
Nppb	T	C	4: 148,070,780 (GRCm39)	S52P	probably benign	Het
Odad2	T	C	18: 7,222,635 (GRCm39)	K545E	probably damaging	Het
Olfml3	T	C	3: 103,643,176 (GRCm39)	K402E	probably damaging	Het
Or1s2	G	A	19: 13,758,688 (GRCm39)	W235*	probably null	Het
Pcdha3	G	A	18: 37,079,977 (GRCm39)	E240K	possibly damaging	Het
Podxl	G	T	6: 31,501,371 (GRCm39)	P395T	probably damaging	Het
Prr5l	T	A	2: 101,547,631 (GRCm39)	D298V	probably damaging	Het
Ptpro	G	A	6: 137,418,142 (GRCm39)		probably null	Het
Rad9b	A	G	5: 122,490,677 (GRCm39)	V13A	possibly damaging	Het
Ralgps1	T	C	2: 33,047,885 (GRCm39)	K365R	probably benign	Het
Reep1	A	T	6: 71,738,373 (GRCm39)	I44L	probably benign	Het
Ripor2	T	C	13: 24,908,984 (GRCm39)	I1034T	possibly damaging	Het
Rtn4ip1	T	C	10: 43,812,016 (GRCm39)	Y338H	probably damaging	Het
Shisa5	G	T	9: 108,883,952 (GRCm39)		probably benign	Het
Snx24	G	T	18: 53,473,244 (GRCm39)	V63F	probably damaging	Het
Svep1	G	A	4: 58,046,587 (GRCm39)	Q3515*	probably null	Het
Tfap2a	T	C	13: 40,874,784 (GRCm39)	K276E	probably damaging	Het
Tmem158	C	A	9: 123,089,366 (GRCm39)	S82I	probably damaging	Het
Tmem263	T	A	10: 84,950,261 (GRCm39)		probably null	Het
Tmtc3	G	T	10: 100,283,336 (GRCm39)	H740N	not run	Het
Tnrc6a	A	C	7: 122,770,136 (GRCm39)	N642T	probably benign	Het
Top3a	A	T	11: 60,638,974 (GRCm39)	F559I	probably damaging	Het
Trak1	A	G	9: 121,280,929 (GRCm39)		probably null	Het
Trpc4	T	C	3: 54,225,048 (GRCm39)	I799T	possibly damaging	Het
Ttc7	T	C	17: 87,653,970 (GRCm39)	I549T	possibly damaging	Het
Tysnd1	C	A	10: 61,532,328 (GRCm39)	P327T	possibly damaging	Het
Ulk4	T	A	9: 120,974,125 (GRCm39)	D969V	probably benign	Het
Vcan	T	A	13: 89,853,385 (GRCm39)	Y525F	probably benign	Het
Vmn1r204	G	A	13: 22,740,975 (GRCm39)	S202N	probably damaging	Het
Vmn2r107	A	G	17: 20,565,878 (GRCm39)	I64M	probably benign	Het
Wrn	A	G	8: 33,782,746 (GRCm39)	F728S	probably damaging	Het
Zfp280b	C	G	10: 75,874,537 (GRCm39)	Q139E	probably damaging	Het
Zfp322a	C	A	13: 23,541,313 (GRCm39)	G143V	probably damaging	Het
Zfp322a	C	T	13: 23,541,314 (GRCm39)	G143S	probably benign	Het
Zfp418	T	A	7: 7,185,827 (GRCm39)	C597S	possibly damaging	Het
Zfyve26	A	T	12: 79,329,758 (GRCm39)	V476D	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
R3874:Zfp568	UTSW	7	29,722,821 (GRCm39)	missense	probably damaging	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
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'- GCCCTGGAATAATACATGGGGAC -3'
(R):5'- GATTCCGACTCAGAGCCTTGTG -3'

Sequencing Primer
(F):5'- CAGTAGGTAATGACTTGAACCATAGC -3'
(R):5'- GCCTTGTGCTAAGACGCC -3'

Posted On

2019-06-26