Mutagenetix > Incidental Mutation

Incidental Mutation 'R8836:Zfp568'

674158

Institutional Source

Beutler Lab

Gene Symbol

Zfp568

Ensembl Gene

ENSMUSG00000074221

Gene Name

zinc finger protein 568

Synonyms

chato, LOC381866

MMRRC Submission

068664-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8836 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29683380-29727707 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 29722459 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 468 (T468M)

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: T468M

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000073930
Gene: ENSMUSG00000074221
AA Change: T468M

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

probably damaging
Transcript: ENSMUST00000146074
AA Change: T467M

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118823
Gene: ENSMUSG00000074221
AA Change: T467M

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: T468M

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118387
Gene: ENSMUSG00000074221
AA Change: T468M

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

probably damaging
Transcript: ENSMUST00000177931
AA Change: T467M

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000137438
Gene: ENSMUSG00000074221
AA Change: T467M

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: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (69/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap4m1	T	A	5: 138,173,061 (GRCm39)	I134N	probably damaging	Het
Cacna1b	A	G	2: 24,542,982 (GRCm39)	V1294A	possibly damaging	Het
Carmil1	A	T	13: 24,339,029 (GRCm39)	S160T	probably damaging	Het
Ccdc7b	C	A	8: 129,857,512 (GRCm39)		probably benign	Het
Chd9	T	G	8: 91,767,812 (GRCm39)	N2436K	probably damaging	Het
Cradd	G	A	10: 95,158,462 (GRCm39)	A95V	probably benign	Het
Cttnbp2	T	G	6: 18,375,952 (GRCm39)	E1529A	probably damaging	Het
Cyp11b1	T	C	15: 74,710,387 (GRCm39)	I305V	possibly damaging	Het
Cyp2j6	A	T	4: 96,411,983 (GRCm39)	N428K	probably damaging	Het
Cyp3a44	A	T	5: 145,731,728 (GRCm39)	S139R	probably damaging	Het
Dysf	C	T	6: 84,093,105 (GRCm39)	R1073C	probably damaging	Het
Ei24	A	G	9: 36,701,498 (GRCm39)	F23S		Het
Enam	T	C	5: 88,639,124 (GRCm39)		probably null	Het
Ezh2	A	T	6: 47,531,196 (GRCm39)	C163S	probably benign	Het
Fam76b	T	A	9: 13,755,381 (GRCm39)	F329L	probably benign	Het
Gatad2b	G	A	3: 90,263,507 (GRCm39)	A535T	probably damaging	Het
Gm5622	T	A	14: 51,796,770 (GRCm39)		probably benign	Het
Gm9195	C	A	14: 72,695,830 (GRCm39)	A1401S	probably benign	Het
Greb1l	A	T	18: 10,509,257 (GRCm39)	H523L	probably benign	Het
Grhl3	T	A	4: 135,288,640 (GRCm39)	N15I	probably damaging	Het
Gsta3	A	T	1: 21,330,283 (GRCm39)	Y95F	probably benign	Het
Htr1f	C	A	16: 64,747,196 (GRCm39)	G32V	probably benign	Het
Il18r1	C	A	1: 40,535,016 (GRCm39)	Q404K	probably benign	Het
Izumo3	A	T	4: 92,033,216 (GRCm39)		probably null	Het
Kctd19	T	A	8: 106,112,028 (GRCm39)	I806F	probably damaging	Het
Lama4	G	T	10: 38,902,587 (GRCm39)	C187F	probably damaging	Het
Lamp3	T	G	16: 19,519,788 (GRCm39)	I132L	probably benign	Het
Ly9	A	T	1: 171,432,559 (GRCm39)	Y151*	probably null	Het
Lztr1	T	C	16: 17,343,402 (GRCm39)	L474P	probably benign	Het
Mcm9	A	T	10: 53,502,130 (GRCm39)	Y79N		Het
Mocs2	T	A	13: 114,961,760 (GRCm39)	N80K	possibly damaging	Het
Mrgbp	T	A	2: 180,224,712 (GRCm39)	C38S	probably benign	Het
Ncs1	G	T	2: 31,136,159 (GRCm39)		probably benign	Het
Or51a10	G	A	7: 103,699,055 (GRCm39)	P169S	probably benign	Het
Or8k17	T	C	2: 86,066,888 (GRCm39)	N90S	probably benign	Het
Pakap	A	G	4: 57,709,916 (GRCm39)	D287G	probably benign	Het
Pax5	A	T	4: 44,645,621 (GRCm39)	V236E	probably benign	Het
Pcdhgb5	A	G	18: 37,865,260 (GRCm39)	I352V	probably benign	Het
Pik3r5	A	G	11: 68,385,104 (GRCm39)	T670A	probably benign	Het
Plxna2	T	A	1: 194,479,243 (GRCm39)	N1301K	possibly damaging	Het
Pou2af3	A	G	9: 51,182,104 (GRCm39)	L156P	probably damaging	Het
Pou5f2	G	A	13: 78,173,886 (GRCm39)	G276D	probably damaging	Het
Ppl	C	G	16: 4,906,854 (GRCm39)	R1147P	probably damaging	Het
Pramel17	T	C	4: 101,693,022 (GRCm39)	K326R	probably benign	Het
Prkdc	C	A	16: 15,545,523 (GRCm39)	R1880S	probably damaging	Het
Rbfox1	T	A	16: 7,227,605 (GRCm39)	D373E	probably benign	Het
Rbm24	A	G	13: 46,582,780 (GRCm39)	D233G	probably damaging	Het
Rbp3	A	T	14: 33,680,588 (GRCm39)	E1063D	possibly damaging	Het
Rc3h2	A	G	2: 37,267,941 (GRCm39)	V939A	possibly damaging	Het
Relb	C	A	7: 19,345,799 (GRCm39)	V385L	possibly damaging	Het
Robo4	T	G	9: 37,317,130 (GRCm39)	S482A	unknown	Het
Ryr1	A	C	7: 28,774,091 (GRCm39)	L2426R	probably damaging	Het
Sass6	A	T	3: 116,407,598 (GRCm39)	E238V	possibly damaging	Het
Ski	T	C	4: 155,245,047 (GRCm39)	I400V	probably benign	Het
Slc27a2	C	A	2: 126,416,656 (GRCm39)	A336D		Het
Slc30a3	T	C	5: 31,250,668 (GRCm39)	T12A	possibly damaging	Het
Slc6a6	T	C	6: 91,725,444 (GRCm39)	V447A	probably damaging	Het
Smad1	T	A	8: 80,098,554 (GRCm39)	I87F	probably damaging	Het
Spns1	G	A	7: 125,971,593 (GRCm39)	S319F	possibly damaging	Het
Sytl3	C	A	17: 6,973,410 (GRCm39)	T237N	possibly damaging	Het
Tdrd7	A	G	4: 45,987,570 (GRCm39)	T68A	probably damaging	Het
Tex56	T	A	13: 35,116,526 (GRCm39)	W92R	probably damaging	Het
Tmem135	G	C	7: 88,797,186 (GRCm39)	L357V	probably benign	Het
Tmem238	A	G	7: 4,792,520 (GRCm39)	C8R	possibly damaging	Het
Ubxn2b	A	T	4: 6,216,061 (GRCm39)	Q328L	probably damaging	Het
Vmn1r226	A	G	17: 20,908,133 (GRCm39)	T122A	probably benign	Het
Vps13d	A	G	4: 144,882,648 (GRCm39)	F982L		Het
Xpo4	T	C	14: 57,902,367 (GRCm39)	E16G	probably benign	Het
Zbtb17	T	A	4: 141,189,233 (GRCm39)	M51K	possibly damaging	Het
Zdhhc1	A	G	8: 106,200,173 (GRCm39)	F315S	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
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
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'- TCACCATAGAGTTCACACTGATGAG -3'
(R):5'- TTCTGGTGTCGACTGAGCTC -3'

Sequencing Primer
(F):5'- CACTGATGAGAAGTGCTTTGAATGC -3'
(R):5'- TGCAAGTGAAGGACTTTCCAC -3'

Posted On

2021-07-15