Mutagenetix > Incidental Mutation

Incidental Mutation 'R7149:Zfp553'

554001

Institutional Source

Beutler Lab

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 #

R7149 (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 126835605 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 387 (S387G)

Ref Sequence

ENSEMBL: ENSMUSP00000060967 (fasta)

Gene Model

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

AlphaFold

Q3US17

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056232
AA Change: S387G

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000060967
Gene: ENSMUSG00000045598
AA Change: S387G

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

possibly damaging
Transcript: ENSMUST00000106312
AA Change: S387G

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101919
Gene: ENSMUSG00000045598
AA Change: S387G

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: 99.7%
20x: 99.0%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	A	C	11: 100,375,451 (GRCm39)	F790V	probably damaging	Het
Atf4	AAGCGGGCTGAGC	AAGC	15: 80,141,500 (GRCm39)		probably benign	Het
Brd8	C	T	18: 34,737,650 (GRCm39)		probably null	Het
Bsn	A	T	9: 107,993,520 (GRCm39)	L744*	probably null	Het
Capn9	A	G	8: 125,332,448 (GRCm39)	D429G	probably benign	Het
CK137956	A	T	4: 127,864,626 (GRCm39)	M1K	probably null	Het
Cnot6	G	A	11: 49,570,970 (GRCm39)	P341S	probably benign	Het
Cracdl	G	A	1: 37,651,352 (GRCm39)	Q1172*	probably null	Het
Dld	T	G	12: 31,385,589 (GRCm39)	I251L	probably benign	Het
Dlg5	T	C	14: 24,240,492 (GRCm39)	K253R	probably benign	Het
Dnmt3a	C	T	12: 3,952,397 (GRCm39)	P696L	probably damaging	Het
Dph1	T	C	11: 75,070,001 (GRCm39)	K409E	probably benign	Het
Dsg2	T	C	18: 20,712,511 (GRCm39)	S172P	probably damaging	Het
Gm1979	T	C	5: 26,206,945 (GRCm39)	N136S	probably benign	Het
Gm2663	A	T	6: 40,974,891 (GRCm39)	L60Q	probably damaging	Het
Hdac10	A	G	15: 89,011,652 (GRCm39)	F144S	probably damaging	Het
Ifi203	T	C	1: 173,756,494 (GRCm39)	T430A	unknown	Het
Itgb2l	T	C	16: 96,234,759 (GRCm39)	D244G	probably damaging	Het
Klk1b9	A	T	7: 43,628,841 (GRCm39)	Y115F	probably benign	Het
Llcfc1	C	A	6: 41,662,251 (GRCm39)	A85E	possibly damaging	Het
Lrp1b	C	T	2: 40,527,872 (GRCm39)	V4330M		Het
Map3k13	A	G	16: 21,744,187 (GRCm39)	E811G	probably benign	Het
Myl6b	A	G	10: 128,333,068 (GRCm39)		probably null	Het
Myo15a	G	A	11: 60,400,836 (GRCm39)	A2997T	possibly damaging	Het
Nalcn	T	C	14: 123,837,277 (GRCm39)	D29G	probably benign	Het
Nepro	T	A	16: 44,550,078 (GRCm39)		probably null	Het
Nlrp1b	T	A	11: 71,072,482 (GRCm39)	R454*	probably null	Het
Nlrp4a	T	C	7: 26,149,863 (GRCm39)	V490A	probably benign	Het
Or1e1f	G	A	11: 73,856,257 (GRCm39)	M274I	probably benign	Het
Or2l13	T	C	16: 19,306,260 (GRCm39)	V224A	probably damaging	Het
Pde8b	T	G	13: 95,223,349 (GRCm39)	M197L	probably benign	Het
Phldb2	T	A	16: 45,571,895 (GRCm39)	K1166*	probably null	Het
Plekhm1	A	G	11: 103,285,742 (GRCm39)	I231T	probably damaging	Het
Ppp6r2	T	C	15: 89,146,599 (GRCm39)	I199T	probably damaging	Het
Ptch1	G	T	13: 63,659,550 (GRCm39)	H1368N	probably benign	Het
Ptprj	T	A	2: 90,274,790 (GRCm39)	T1191S	possibly damaging	Het
Rapgef1	T	C	2: 29,610,712 (GRCm39)	S748P	probably damaging	Het
Rigi	T	C	4: 40,222,079 (GRCm39)	D445G	possibly damaging	Het
Rnmt	T	C	18: 68,452,222 (GRCm39)	S420P	probably damaging	Het
Sgms2	A	G	3: 131,129,908 (GRCm39)	F160S	possibly damaging	Het
Sim1	G	T	10: 50,785,636 (GRCm39)	R235L	probably damaging	Het
Slco1a7	A	G	6: 141,690,178 (GRCm39)	S192P	probably damaging	Het
Smarcad1	T	A	6: 65,029,716 (GRCm39)	D101E	probably benign	Het
Smarcc2	G	A	10: 128,318,598 (GRCm39)	V627M	probably damaging	Het
Supt20	G	A	3: 54,635,832 (GRCm39)	R241H	unknown	Het
Tagln2	T	A	1: 172,333,386 (GRCm39)	I80N	probably damaging	Het
Tmod2	G	A	9: 75,489,167 (GRCm39)	T226I	possibly damaging	Het
Vmn2r80	A	T	10: 79,030,654 (GRCm39)	I827F	probably benign	Het
Vmn2r96	T	A	17: 18,817,989 (GRCm39)	M714K	possibly damaging	Het
Vps8	C	A	16: 21,278,526 (GRCm39)	D261E	probably damaging	Het
Yeats2	C	A	16: 19,972,939 (GRCm39)	A31E	probably damaging	Het
Zfp451	C	T	1: 33,816,405 (GRCm39)	R515Q	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
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'- AGGCTTTGCTGATAGCTCC -3'
(R):5'- AAAGCCTTTGCCACACTCAG -3'

Sequencing Primer
(F):5'- GTGAAGCATCTCCGCACC -3'
(R):5'- TTTGCCACACTCAGGGCAGAG -3'

Posted On

2019-05-15