Mutagenetix > Incidental Mutation

Incidental Mutation 'R4537:Zfp558'

333376

Institutional Source

Beutler Lab

Gene Symbol

Zfp558

Ensembl Gene

ENSMUSG00000074500

Gene Name

zinc finger protein 558

Synonyms

Zfp558-ps, 1700007A21Rik, 4932704I17Rik

MMRRC Submission

041774-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4537 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18366871-18389564 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18368798 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 146 (E146G)

Ref Sequence

ENSEMBL: ENSMUSP00000132305 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034647] [ENSMUST00000159596]

AlphaFold

E9Q1J0

Predicted Effect

probably null
Transcript: ENSMUST00000034647
AA Change: E146G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000132305
Gene: ENSMUSG00000074500
AA Change: E146G

Domain	Start	End	E-Value	Type
KRAB	43	103	2.52e-29	SMART
ZnF_C2H2	156	178	1.45e-2	SMART
ZnF_C2H2	184	206	2.79e-4	SMART
ZnF_C2H2	212	234	6.52e-5	SMART
ZnF_C2H2	240	262	2.02e-1	SMART
ZnF_C2H2	269	291	5.14e-3	SMART
ZnF_C2H2	297	319	5.21e-4	SMART
ZnF_C2H2	325	347	1.3e-4	SMART
ZnF_C2H2	353	375	2.99e-4	SMART
ZnF_C2H2	381	403	3.39e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159596

SMART Domains

Protein: ENSMUSP00000126946
Gene: ENSMUSG00000074500

Domain	Start	End	E-Value	Type
KRAB	43	100	1.24e-19	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162441

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174973

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid4b	T	A	13: 14,294,746 (GRCm39)	Y9*	probably null	Het
Aspm	T	C	1: 139,402,041 (GRCm39)	I1235T	probably benign	Het
Defb30	T	C	14: 63,273,525 (GRCm39)	I29M	probably damaging	Het
Dnajc13	CT	C	9: 104,064,004 (GRCm39)		probably benign	Het
Dpy19l3	T	C	7: 35,411,326 (GRCm39)	T428A	probably benign	Het
Fam83b	T	C	9: 76,399,424 (GRCm39)	T560A	probably benign	Het
Fnip2	A	G	3: 79,373,021 (GRCm39)	V1019A	probably damaging	Het
Fus	A	G	7: 127,575,087 (GRCm39)	D268G	probably damaging	Het
Gm14412	T	A	2: 177,006,352 (GRCm39)	K514N	probably benign	Het
Gphn	T	C	12: 78,540,788 (GRCm39)	L265P	probably benign	Het
Grm3	A	G	5: 9,562,083 (GRCm39)	M589T	probably benign	Het
Hoxa1	G	T	6: 52,134,973 (GRCm39)	Q77K	probably benign	Het
Ighv14-2	A	G	12: 113,958,512 (GRCm39)	C3R	probably benign	Het
Itgb2	G	A	10: 77,397,050 (GRCm39)		probably null	Het
Mrpl24	A	C	3: 87,829,719 (GRCm39)	K102Q	probably benign	Het
Ogfod2	C	T	5: 124,252,591 (GRCm39)		probably benign	Het
Olig2	A	G	16: 91,023,732 (GRCm39)	I149V	probably damaging	Het
Or10g9	T	A	9: 39,911,616 (GRCm39)	K302N	probably benign	Het
Or56a3b	T	A	7: 104,776,227 (GRCm39)	I84F	probably damaging	Het
Or7g19	T	A	9: 18,856,526 (GRCm39)	I194N	possibly damaging	Het
Oxr1	A	G	15: 41,683,915 (GRCm39)	Q515R	possibly damaging	Het
Rae1	G	T	2: 172,857,185 (GRCm39)		probably benign	Het
Slc25a12	T	A	2: 71,105,450 (GRCm39)		probably benign	Het
Slc2a3	C	A	6: 122,714,063 (GRCm39)	G157V	probably damaging	Het
Slc5a4a	C	T	10: 76,013,929 (GRCm39)	R379*	probably null	Het
Sost	G	A	11: 101,857,670 (GRCm39)	P44S	probably damaging	Het
Sprr2f	A	T	3: 92,273,366 (GRCm39)	Q55L	unknown	Het
Srd5a3	G	A	5: 76,297,798 (GRCm39)		probably null	Het
Tmtc1	C	T	6: 148,164,280 (GRCm39)		probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tob1	ACAGCAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCAGCA	11: 94,105,278 (GRCm39)		probably benign	Het
Ulk4	G	A	9: 121,092,704 (GRCm39)	R178*	probably null	Het
Uspl1	A	G	5: 149,124,588 (GRCm39)	T2A	possibly damaging	Het
Vmn2r87	T	G	10: 130,308,054 (GRCm39)	H728P	probably benign	Het
Vmn2r93	T	A	17: 18,525,194 (GRCm39)	M284K	possibly damaging	Het
Zfp101	T	A	17: 33,601,466 (GRCm39)	M59L	possibly damaging	Het

Other mutations in Zfp558

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00532:Zfp558	APN	9	18,367,883 (GRCm39)	missense	possibly damaging	0.72
IGL00722:Zfp558	APN	9	18,367,817 (GRCm39)	missense	probably damaging	0.97
R0270:Zfp558	UTSW	9	18,379,252 (GRCm39)	missense	probably damaging	1.00
R0708:Zfp558	UTSW	9	18,368,123 (GRCm39)	missense	possibly damaging	0.75
R1521:Zfp558	UTSW	9	18,367,859 (GRCm39)	missense	possibly damaging	0.86
R1618:Zfp558	UTSW	9	18,380,579 (GRCm39)	missense	possibly damaging	0.73
R2323:Zfp558	UTSW	9	18,380,573 (GRCm39)	critical splice donor site	probably null
R2939:Zfp558	UTSW	9	18,367,924 (GRCm39)	missense	possibly damaging	0.71
R4569:Zfp558	UTSW	9	18,367,799 (GRCm39)	missense	possibly damaging	0.72
R4570:Zfp558	UTSW	9	18,367,799 (GRCm39)	missense	possibly damaging	0.72
R4571:Zfp558	UTSW	9	18,367,799 (GRCm39)	missense	possibly damaging	0.72
R4619:Zfp558	UTSW	9	18,367,577 (GRCm39)	missense	possibly damaging	0.96
R5207:Zfp558	UTSW	9	18,368,296 (GRCm39)	missense	possibly damaging	0.93
R5530:Zfp558	UTSW	9	18,367,669 (GRCm39)	missense	probably benign	0.05
R6631:Zfp558	UTSW	9	18,368,219 (GRCm39)	nonsense	probably null
R7892:Zfp558	UTSW	9	18,379,993 (GRCm39)	missense	possibly damaging	0.73
R8309:Zfp558	UTSW	9	18,368,213 (GRCm39)	missense	probably benign	0.02
R9006:Zfp558	UTSW	9	18,367,776 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- TGTGGGACCTCTCAGTGAAG -3'
(R):5'- AATTTCCAGAACCAATTTCCCTGTC -3'

Sequencing Primer
(F):5'- CAGTATCTTCACAGAGACATC -3'
(R):5'- AATCCTTTCGAGTGTACCCTATATC -3'

Posted On

2015-08-18