Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03228:Zfp553'

413791

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp553

Ensembl Gene

ENSMUSG00000045598

Gene Name

zinc finger protein 553

Synonyms

2600009K23Rik, C330013F15Rik, ENSMUSG00000054461

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03228

Quality Score

Status

Chromosome

Chromosomal Location

126832233-126837351 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126835249 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 268 (H268R)

Ref Sequence

ENSEMBL: ENSMUSP00000101919 (fasta)

Gene Model

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

AlphaFold

Q3US17

Predicted Effect

probably damaging
Transcript: ENSMUST00000056232
AA Change: H268R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000060967
Gene: ENSMUSG00000045598
AA Change: H268R

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: H268R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101919
Gene: ENSMUSG00000045598
AA Change: H268R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205367

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205570

Coding Region Coverage

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid3a	G	A	10: 79,786,578 (GRCm39)	V444I	possibly damaging	Het
Catsperg2	T	C	7: 29,397,650 (GRCm39)	Y1021C	probably damaging	Het
Cbx1	A	G	11: 96,691,631 (GRCm39)		probably benign	Het
Cdk15	G	T	1: 59,297,912 (GRCm39)	K106N	possibly damaging	Het
Itpkb	A	T	1: 180,241,564 (GRCm39)	R745W	probably damaging	Het
Kdr	T	A	5: 76,117,708 (GRCm39)	I682F	probably damaging	Het
Klhl1	T	A	14: 96,477,763 (GRCm39)	E435V	probably damaging	Het
Lamp3	T	A	16: 19,494,817 (GRCm39)	Y296F	possibly damaging	Het
Ltb4r2	A	T	14: 55,999,408 (GRCm39)	N10Y	probably damaging	Het
Mmrn1	C	T	6: 60,921,876 (GRCm39)	P111L	probably benign	Het
Nt5c	A	G	11: 115,381,987 (GRCm39)	Y107H	probably damaging	Het
Or2m12	A	C	16: 19,105,140 (GRCm39)	L118V	probably damaging	Het
Or5p53	T	A	7: 107,533,330 (GRCm39)	I201N	possibly damaging	Het
Or8h9	A	G	2: 86,789,050 (GRCm39)	F251L	probably benign	Het
Piezo2	T	A	18: 63,186,133 (GRCm39)	S1679C	probably damaging	Het
Plac8l1	T	A	18: 42,325,672 (GRCm39)	S78C	probably damaging	Het
Scyl2	A	T	10: 89,485,942 (GRCm39)	I549N	probably damaging	Het
Slc51a	G	A	16: 32,297,568 (GRCm39)	R110C	probably damaging	Het
Slc6a20b	G	T	9: 123,461,197 (GRCm39)	Y65*	probably null	Het
Stx11	G	A	10: 12,816,956 (GRCm39)	T256M	probably benign	Het
Syne2	T	C	12: 76,026,686 (GRCm39)	C3505R	probably benign	Het
Trim75	A	G	8: 65,436,006 (GRCm39)	L148P	probably benign	Het
Ubr4	T	A	4: 139,156,909 (GRCm39)	N2311K	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
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
R8111:Zfp553	UTSW	7	126,836,093 (GRCm39)	nonsense	probably null
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

Posted On

2016-08-02