Mutagenetix > Incidental Mutation

Incidental Mutation 'R8111:Zfp553'

630872

Institutional Source

Beutler Lab

Gene Symbol

Zfp553

Ensembl Gene

ENSMUSG00000045598

Gene Name

zinc finger protein 553

Synonyms

2600009K23Rik, C330013F15Rik, ENSMUSG00000054461

MMRRC Submission

067540-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8111 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126832233-126837351 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 126836093 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 549 (C549*)

Ref Sequence

ENSEMBL: ENSMUSP00000060967 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056232] [ENSMUST00000106312] [ENSMUST00000133913]

AlphaFold

Q3US17

Predicted Effect

probably null
Transcript: ENSMUST00000056232
AA Change: C549*

SMART Domains

Protein: ENSMUSP00000060967
Gene: ENSMUSG00000045598
AA Change: C549*

Domain	Start	End	E-Value	Type
ZnF_C2H2	83	105	5.9e-3	SMART
ZnF_C2H2	111	133	6.32e-3	SMART
low complexity region	140	155	N/A	INTRINSIC
ZnF_C2H2	163	185	4.17e-3	SMART
ZnF_C2H2	191	213	5.5e-3	SMART
low complexity region	219	239	N/A	INTRINSIC
ZnF_C2H2	246	268	1.45e-2	SMART
ZnF_C2H2	274	296	4.17e-3	SMART
ZnF_C2H2	302	324	3.89e-3	SMART
ZnF_C2H2	330	352	1.36e-2	SMART
low complexity region	364	392	N/A	INTRINSIC
low complexity region	394	419	N/A	INTRINSIC
ZnF_C2H2	423	445	3.21e-4	SMART
ZnF_C2H2	451	473	3.89e-3	SMART
low complexity region	477	494	N/A	INTRINSIC
ZnF_C2H2	516	538	9.08e-4	SMART
ZnF_C2H2	544	566	5.42e-2	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000106312
AA Change: C549*

SMART Domains

Protein: ENSMUSP00000101919
Gene: ENSMUSG00000045598
AA Change: C549*

Domain	Start	End	E-Value	Type
ZnF_C2H2	83	105	5.9e-3	SMART
ZnF_C2H2	111	133	6.32e-3	SMART
low complexity region	140	155	N/A	INTRINSIC
ZnF_C2H2	163	185	4.17e-3	SMART
ZnF_C2H2	191	213	5.5e-3	SMART
low complexity region	219	239	N/A	INTRINSIC
ZnF_C2H2	246	268	1.45e-2	SMART
ZnF_C2H2	274	296	4.17e-3	SMART
ZnF_C2H2	302	324	3.89e-3	SMART
ZnF_C2H2	330	352	1.36e-2	SMART
low complexity region	364	392	N/A	INTRINSIC
low complexity region	394	419	N/A	INTRINSIC
ZnF_C2H2	423	445	3.21e-4	SMART
ZnF_C2H2	451	473	3.89e-3	SMART
low complexity region	477	494	N/A	INTRINSIC
ZnF_C2H2	516	538	9.08e-4	SMART
ZnF_C2H2	544	566	5.42e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000133913

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 93.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit complete embryonic lethality during organogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	C	T	14: 32,382,266 (GRCm39)	W1233*	probably null	Het
4930590J08Rik	A	G	6: 91,894,691 (GRCm39)	I247V	probably benign	Het
8030423J24Rik	T	A	13: 71,032,077 (GRCm39)	C50S	unknown	Het
Adam29	T	G	8: 56,324,585 (GRCm39)	H623P	probably benign	Het
Adamts5	A	G	16: 85,696,203 (GRCm39)	V318A	probably damaging	Het
Ano3	T	C	2: 110,614,058 (GRCm39)	D215G	possibly damaging	Het
Ap3b2	A	G	7: 81,113,530 (GRCm39)	I893T	unknown	Het
Apob	G	A	12: 8,058,801 (GRCm39)	A2428T	probably benign	Het
Armc3	T	C	2: 19,301,674 (GRCm39)	V660A	probably benign	Het
Atf7	G	T	15: 102,471,769 (GRCm39)	T42K	probably damaging	Het
Atg9a	A	T	1: 75,164,366 (GRCm39)	I160N	probably damaging	Het
Atp2b1	T	C	10: 98,832,786 (GRCm39)	V429A	possibly damaging	Het
Bpifb3	A	C	2: 153,764,609 (GRCm39)	H167P	probably benign	Het
Cacna1f	G	T	X: 7,487,326 (GRCm39)	E921D	probably damaging	Het
Ccdc57	T	A	11: 120,769,713 (GRCm39)	L713F	probably damaging	Het
Chd1l	C	T	3: 97,494,526 (GRCm39)	E385K	possibly damaging	Het
Csmd1	C	T	8: 15,967,306 (GRCm39)	V3186I	probably benign	Het
Dclre1c	T	A	2: 3,448,185 (GRCm39)	D349E	probably benign	Het
Dlg1	C	T	16: 31,661,620 (GRCm39)	T657M	possibly damaging	Het
Dync2h1	T	C	9: 7,148,688 (GRCm39)	I919V	probably benign	Het
Dync2i2	C	A	2: 29,921,859 (GRCm39)	A501S	possibly damaging	Het
Eml5	A	G	12: 98,758,773 (GRCm39)		probably null	Het
Epas1	C	A	17: 87,125,860 (GRCm39)	S286*	probably null	Het
Fat1	G	A	8: 45,479,095 (GRCm39)	V2714I	possibly damaging	Het
Fuca2	T	C	10: 13,390,545 (GRCm39)	M447T	probably benign	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,497,361 (GRCm39)		probably null	Het
Gm11110	A	C	17: 57,410,427 (GRCm39)	C24G	probably null	Het
Gm6176	T	A	7: 21,750,593 (GRCm39)	I113F	probably benign	Het
Gmcl1	G	T	6: 86,698,408 (GRCm39)	A163E	probably damaging	Het
Gpat2	G	T	2: 127,275,777 (GRCm39)	L518F	probably damaging	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Hgsnat	C	T	8: 26,458,440 (GRCm39)	V195I	probably benign	Het
Hivep3	T	A	4: 119,955,583 (GRCm39)	S1300T	probably damaging	Het
Hs3st2	A	T	7: 120,992,362 (GRCm39)	H137L	probably damaging	Het
Iffo1	T	C	6: 125,122,781 (GRCm39)	S188P	possibly damaging	Het
Itih1	T	C	14: 30,654,225 (GRCm39)	D684G	probably damaging	Het
Lrba	C	A	3: 86,235,012 (GRCm39)	N852K	probably damaging	Het
Lrriq4	T	C	3: 30,709,930 (GRCm39)	S425P	possibly damaging	Het
Mdn1	T	A	4: 32,674,003 (GRCm39)	S562T	possibly damaging	Het
Mex3a	T	C	3: 88,444,064 (GRCm39)	V380A	probably benign	Het
Mgat4d	A	T	8: 84,094,776 (GRCm39)	N271I	probably damaging	Het
Mmp24	T	A	2: 155,649,345 (GRCm39)	V254E	possibly damaging	Het
Muc16	T	A	9: 18,503,925 (GRCm39)	R6455S	possibly damaging	Het
Npffr1	T	A	10: 61,459,128 (GRCm39)	V127E	probably damaging	Het
Obox5	T	A	7: 15,492,541 (GRCm39)	N165K	probably damaging	Het
Or10g3b	G	A	14: 52,587,344 (GRCm39)	T53M	possibly damaging	Het
Otulin	A	C	15: 27,606,381 (GRCm39)	V344G	probably damaging	Het
Pappa	A	G	4: 65,180,229 (GRCm39)	D1030G	probably damaging	Het
Pdzd2	G	A	15: 12,373,592 (GRCm39)	S2181L	probably benign	Het
Ppp2r3c	C	A	12: 55,344,634 (GRCm39)	M111I	probably benign	Het
Prss37	T	C	6: 40,494,747 (GRCm39)	T13A	probably benign	Het
Sfi1	TCGC	TC	11: 3,096,254 (GRCm39)		probably null	Het
Sgo2b	T	A	8: 64,396,138 (GRCm39)	K39N	probably damaging	Het
Sike1	T	C	3: 102,909,123 (GRCm39)	*208Q	probably null	Het
Spire1	A	G	18: 67,652,391 (GRCm39)	S229P	probably damaging	Het
Tmem132b	A	G	5: 125,699,857 (GRCm39)	I132V	probably benign	Het
Umodl1	T	C	17: 31,190,792 (GRCm39)	V213A	probably damaging	Het
Washc1	C	G	17: 66,423,033 (GRCm39)	Q116E	probably benign	Het
Zfp9	G	A	6: 118,441,561 (GRCm39)	P367L	probably damaging	Het

Other mutations in Zfp553

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01501:Zfp553	APN	7	126,835,387 (GRCm39)	missense	probably damaging	1.00
IGL01528:Zfp553	APN	7	126,835,387 (GRCm39)	missense	probably damaging	1.00
IGL03228:Zfp553	APN	7	126,835,249 (GRCm39)	missense	probably damaging	1.00
R1051:Zfp553	UTSW	7	126,835,977 (GRCm39)	nonsense	probably null
R1859:Zfp553	UTSW	7	126,834,517 (GRCm39)	missense	probably benign	0.04
R1899:Zfp553	UTSW	7	126,834,826 (GRCm39)	missense	possibly damaging	0.66
R4997:Zfp553	UTSW	7	126,834,683 (GRCm39)	missense	probably benign	0.15
R5090:Zfp553	UTSW	7	126,834,659 (GRCm39)	missense	probably damaging	0.98
R5282:Zfp553	UTSW	7	126,836,013 (GRCm39)	missense	probably benign	0.12
R5468:Zfp553	UTSW	7	126,836,202 (GRCm39)	missense	probably benign
R5576:Zfp553	UTSW	7	126,835,875 (GRCm39)	missense	possibly damaging	0.80
R6334:Zfp553	UTSW	7	126,836,064 (GRCm39)	splice site	probably null
R6828:Zfp553	UTSW	7	126,835,447 (GRCm39)	missense	probably damaging	1.00
R6974:Zfp553	UTSW	7	126,835,825 (GRCm39)	missense	probably damaging	1.00
R7149:Zfp553	UTSW	7	126,835,605 (GRCm39)	missense	possibly damaging	0.94
R7615:Zfp553	UTSW	7	126,835,188 (GRCm39)	missense	probably damaging	1.00
R7922:Zfp553	UTSW	7	126,835,768 (GRCm39)	missense	probably damaging	0.99
R8103:Zfp553	UTSW	7	126,835,936 (GRCm39)	missense	probably benign
R8199:Zfp553	UTSW	7	126,835,468 (GRCm39)	missense	probably damaging	1.00
R8390:Zfp553	UTSW	7	126,835,476 (GRCm39)	missense	probably damaging	1.00
Z1088:Zfp553	UTSW	7	126,834,670 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCTGCCCGAGTCAAACACC -3'
(R):5'- GCGCCTAACCAAGACAGTTTC -3'

Sequencing Primer
(F):5'- GGCCCCATAATCCACCTGG -3'
(R):5'- CAAGACAGTTTCCTGAGCATG -3'

Posted On

2020-06-30