Mutagenetix > Incidental Mutation

Incidental Mutation 'R6828:Zfp553'

534254

Institutional Source

Beutler Lab

Gene Symbol

Zfp553

Ensembl Gene

ENSMUSG00000045598

Gene Name

zinc finger protein 553

Synonyms

2600009K23Rik, C330013F15Rik, ENSMUSG00000054461

MMRRC Submission

045020-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6828 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126832233-126837351 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126835447 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 334 (E334G)

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: E334G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000060967
Gene: ENSMUSG00000045598
AA Change: E334G

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: E334G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101919
Gene: ENSMUSG00000045598
AA Change: E334G

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,545,389 (GRCm39)	M349K	possibly damaging	Het
Akap12	A	G	10: 4,304,606 (GRCm39)	E472G	probably damaging	Het
Ap2s1	T	C	7: 16,482,626 (GRCm39)	Y94H	probably damaging	Het
Apeh	A	G	9: 107,964,237 (GRCm39)	F530L	probably damaging	Het
Aplnr	G	A	2: 84,970,103 (GRCm39)		probably benign	Het
Arid3b	A	G	9: 57,717,446 (GRCm39)		probably null	Het
Ash1l	A	C	3: 88,983,420 (GRCm39)	D2874A	probably benign	Het
Aurka	T	A	2: 172,199,172 (GRCm39)	R277S	probably damaging	Het
Calhm4	A	G	10: 33,919,953 (GRCm39)	F105L	possibly damaging	Het
Ccar1	C	A	10: 62,600,209 (GRCm39)	W574L	probably damaging	Het
Cd8b1	T	C	6: 71,311,100 (GRCm39)	F207L	probably benign	Het
Clec14a	T	C	12: 58,315,290 (GRCm39)	R111G	probably damaging	Het
Clk3	G	A	9: 57,668,132 (GRCm39)	T263I	possibly damaging	Het
Col11a2	A	G	17: 34,272,607 (GRCm39)		probably null	Het
Col5a3	C	T	9: 20,709,748 (GRCm39)	G604D	unknown	Het
Cracdl	T	C	1: 37,663,898 (GRCm39)	T667A	possibly damaging	Het
Crb2	ACTGCTGCTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	2: 37,666,421 (GRCm39)		probably benign	Het
Ctps1	A	T	4: 120,405,335 (GRCm39)	V369D	probably damaging	Het
Dennd5b	A	G	6: 148,895,244 (GRCm39)	I1262T	probably damaging	Het
Dmxl1	C	T	18: 50,054,091 (GRCm39)	P2566S	probably damaging	Het
Fam170b	A	G	14: 32,557,915 (GRCm39)	D250G	probably damaging	Het
Foxs1	G	A	2: 152,775,048 (GRCm39)	Q2*	probably null	Het
Frmpd1	T	C	4: 45,275,383 (GRCm39)	V512A	probably damaging	Het
Fry	G	A	5: 150,389,911 (GRCm39)		probably null	Het
Gria1	A	G	11: 57,180,288 (GRCm39)	Y677C	probably damaging	Het
Igdcc4	T	C	9: 65,029,979 (GRCm39)	I343T	probably benign	Het
Igkv1-132	T	C	6: 67,736,697 (GRCm39)	V5A	probably benign	Het
Ikzf5	A	T	7: 130,993,401 (GRCm39)	C256S	probably damaging	Het
Itk	G	A	11: 46,232,045 (GRCm39)	H297Y	probably damaging	Het
Lamb3	A	G	1: 193,017,756 (GRCm39)	E879G	probably benign	Het
Lpin2	T	C	17: 71,529,123 (GRCm39)	V127A	probably damaging	Het
Man2b1	C	A	8: 85,813,548 (GRCm39)	P247T	possibly damaging	Het
Meak7	G	A	8: 120,499,306 (GRCm39)	T62I	possibly damaging	Het
Mxd3	T	C	13: 55,473,967 (GRCm39)	K122E	probably benign	Het
Npr1	C	A	3: 90,372,120 (GRCm39)	V231L	probably benign	Het
Nsd2	C	T	5: 34,050,912 (GRCm39)	A1263V	probably damaging	Het
Olfm4	A	G	14: 80,258,973 (GRCm39)	D374G	probably damaging	Het
Optc	A	T	1: 133,825,605 (GRCm39)	I307N	probably damaging	Het
Or5p80	A	C	7: 108,229,500 (GRCm39)	Q100H	possibly damaging	Het
Or6c3b	A	T	10: 129,527,863 (GRCm39)	S16T	probably damaging	Het
Pecr	C	A	1: 72,306,616 (GRCm39)	E222*	probably null	Het
Pibf1	A	G	14: 99,423,987 (GRCm39)	N520S	probably benign	Het
Rhoj	A	G	12: 75,355,653 (GRCm39)	N19S	probably benign	Het
Rock2	G	A	12: 16,992,960 (GRCm39)		probably null	Het
Rpa1	G	A	11: 75,205,697 (GRCm39)	T220I	probably damaging	Het
Sdf2l1	C	G	16: 16,950,158 (GRCm39)	R6P	probably benign	Het
Sipa1l3	G	A	7: 29,038,457 (GRCm39)	H397Y	probably benign	Het
Snrk	T	C	9: 121,966,632 (GRCm39)	I185T	probably damaging	Het
Srrt	A	T	5: 137,295,230 (GRCm39)	V300E	probably damaging	Het
Taok2	A	T	7: 126,471,047 (GRCm39)		probably null	Het
Tmem131	T	C	1: 36,843,724 (GRCm39)	K1379R	possibly damaging	Het
Usp15	T	C	10: 122,963,894 (GRCm39)	I543V	probably damaging	Het
Zim1	T	C	7: 6,680,688 (GRCm39)	Y325C	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
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

Predicted Primers

PCR Primer
(F):5'- GAGTCACTTAGGCCCCAAAC -3'
(R):5'- TCTGGTTCCAAGCCAGGTAG -3'

Sequencing Primer
(F):5'- TTAGGCCCCAAACCCTTCGG -3'
(R):5'- AAGGCCCATCACTGGAGTGTG -3'

Posted On

2018-09-12