Mutagenetix > Incidental Mutation

Incidental Mutation 'R6334:Zfp553'

510706

Institutional Source

Beutler Lab

Gene Symbol

Zfp553

Ensembl Gene

ENSMUSG00000045598

Gene Name

zinc finger protein 553

Synonyms

C330013F15Rik, ENSMUSG00000054461, 2600009K23Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6334 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127233061-127238179 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 127236892 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145906 (fasta)

Gene Model

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

AlphaFold

Q3US17

Predicted Effect

probably damaging
Transcript: ENSMUST00000056232
AA Change: G540W

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000060967
Gene: ENSMUSG00000045598
AA Change: G540W

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 damaging
Transcript: ENSMUST00000106312
AA Change: G540W

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101919
Gene: ENSMUSG00000045598
AA Change: G540W

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: ENSMUST00000133913

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205367

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205570

Meta Mutation Damage Score

0.3609

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (64/64)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	A	11: 58,880,114	S141T	probably benign	Het
Afap1l2	A	G	19: 56,917,976		probably null	Het
Aox2	C	T	1: 58,307,407	Q567*	probably null	Het
Aqp4	T	A	18: 15,393,591	M278L	probably benign	Het
Atp23	A	C	10: 126,887,669	L188R	probably benign	Het
B230359F08Rik	A	G	14: 53,795,942	T103A	probably damaging	Het
Catsperg1	C	T	7: 29,206,357	G215D	probably benign	Het
Cavin4	T	C	4: 48,663,824	V68A	possibly damaging	Het
Ccl4	T	C	11: 83,662,678	S6P	unknown	Het
Cfap46	T	C	7: 139,680,831	E117G	probably damaging	Het
Chek1	A	G	9: 36,714,492	S286P	possibly damaging	Het
Cntn4	G	A	6: 106,344,786	V35I	probably benign	Het
Cntn4	C	A	6: 106,506,192	P236Q	probably benign	Het
Cyp2d40	C	A	15: 82,761,552	G84V	probably benign	Het
Dnah12	A	T	14: 26,706,834	H205L	possibly damaging	Het
Dock1	G	A	7: 134,851,576	V845I	probably benign	Het
Drg1	T	C	11: 3,266,292	K7E	possibly damaging	Het
Eloa	G	A	4: 136,009,822	P488S	probably damaging	Het
Evi5	G	A	5: 107,820,521	R187*	probably null	Het
Fam53a	T	A	5: 33,600,875	L301F	probably damaging	Het
Fmnl3	T	C	15: 99,337,653	K63E	probably damaging	Het
Gast	C	A	11: 100,336,612	Q44K	probably benign	Het
Gm4788	A	G	1: 139,773,924		probably null	Het
Gng10	T	A	4: 59,035,257	V7E	probably benign	Het
Gtf3c5	G	A	2: 28,570,462	T375I	probably benign	Het
Haus5	C	T	7: 30,658,976	W298*	probably null	Het
Hspa14	A	T	2: 3,489,072		probably null	Het
Kcna3	T	C	3: 107,036,424	M1T	probably null	Het
Kcnj15	T	G	16: 95,296,236	L239R	probably damaging	Het
Klhl2	G	T	8: 64,759,808	D232E	probably benign	Het
Lamb3	A	T	1: 193,335,474	I888F	probably damaging	Het
Lars	C	A	18: 42,217,486	M919I	probably benign	Het
Lfng	T	C	5: 140,612,767	V247A	possibly damaging	Het
Lrp1b	C	T	2: 41,789,033	A16T	probably benign	Het
Mamdc2	A	T	19: 23,363,906	I235N	probably damaging	Het
Map9	T	A	3: 82,383,305	L492Q	probably damaging	Het
Mcpt8	A	G	14: 56,085,147	V14A	possibly damaging	Het
Myo1b	T	C	1: 51,768,651	K823R	probably null	Het
Nbea	G	T	3: 56,037,149	T598K	probably damaging	Het
Nrcam	C	A	12: 44,572,300	H877N	probably benign	Het
Nrxn2	T	C	19: 6,531,292		probably null	Het
Nwd2	A	T	5: 63,800,253	I309F	possibly damaging	Het
Phyhd1	G	A	2: 30,274,724		probably null	Het
Pkp2	C	T	16: 16,226,069	T229I	probably damaging	Het
Plagl2	G	A	2: 153,232,691	P97S	probably benign	Het
Plekhh2	C	A	17: 84,566,866	N526K	probably benign	Het
Plin4	A	G	17: 56,103,261	L1217P	probably benign	Het
Polr3e	T	C	7: 120,927,999	S67P	possibly damaging	Het
Postn	A	G	3: 54,385,282	K757E	probably benign	Het
Prpf39	T	A	12: 65,042,813		probably null	Het
Ptprg	C	T	14: 12,166,832	T745I	probably damaging	Het
Pxylp1	C	G	9: 96,825,254	A292P	probably damaging	Het
Rpl35	G	T	2: 39,001,742	D82E	possibly damaging	Het
Slc9a1	G	A	4: 133,422,208	V782I	possibly damaging	Het
Syn2	T	A	6: 115,263,914	M415K	possibly damaging	Het
Tmem117	A	C	15: 95,011,443	I246L	probably benign	Het
Tmem221	A	T	8: 71,558,784	V9E	probably damaging	Het
Ubxn7	T	A	16: 32,372,189		probably null	Het
Vmn2r101	G	T	17: 19,589,850	M299I	possibly damaging	Het
Vmn2r103	T	A	17: 19,794,082	S379T	probably damaging	Het
Vmn2r109	T	C	17: 20,541,178	N639S	probably benign	Het
Wdr26	T	C	1: 181,203,206			Het
Zfp109	T	A	7: 24,228,883	Y367F	probably damaging	Het
Zfp143	G	A	7: 110,086,131	C389Y	probably damaging	Het

Other mutations in Zfp553

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01501:Zfp553	APN	7	127236215	missense	probably damaging	1.00
IGL01528:Zfp553	APN	7	127236215	missense	probably damaging	1.00
IGL03228:Zfp553	APN	7	127236077	missense	probably damaging	1.00
R1051:Zfp553	UTSW	7	127236805	nonsense	probably null
R1859:Zfp553	UTSW	7	127235345	missense	probably benign	0.04
R1899:Zfp553	UTSW	7	127235654	missense	possibly damaging	0.66
R4997:Zfp553	UTSW	7	127235511	missense	probably benign	0.15
R5090:Zfp553	UTSW	7	127235487	missense	probably damaging	0.98
R5282:Zfp553	UTSW	7	127236841	missense	probably benign	0.12
R5468:Zfp553	UTSW	7	127237030	missense	probably benign
R5576:Zfp553	UTSW	7	127236703	missense	possibly damaging	0.80
R6828:Zfp553	UTSW	7	127236275	missense	probably damaging	1.00
R6974:Zfp553	UTSW	7	127236653	missense	probably damaging	1.00
R7149:Zfp553	UTSW	7	127236433	missense	possibly damaging	0.94
R7615:Zfp553	UTSW	7	127236016	missense	probably damaging	1.00
R7922:Zfp553	UTSW	7	127236596	missense	probably damaging	0.99
R8103:Zfp553	UTSW	7	127236764	missense	probably benign
R8111:Zfp553	UTSW	7	127236921	nonsense	probably null
R8199:Zfp553	UTSW	7	127236296	missense	probably damaging	1.00
R8390:Zfp553	UTSW	7	127236304	missense	probably damaging	1.00
Z1088:Zfp553	UTSW	7	127235498	missense	probably damaging	1.00

Predicted Primers

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

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

Posted On

2018-04-02