Mutagenetix > Incidental Mutation

Incidental Mutation 'R4619:Zfp558'

345179

Institutional Source

Beutler Lab

Gene Symbol

Zfp558

Ensembl Gene

ENSMUSG00000074500

Gene Name

zinc finger protein 558

Synonyms

Zfp558-ps, 1700007A21Rik, 4932704I17Rik

MMRRC Submission

041885-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4619 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18366871-18389564 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 18367577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 404 (N404Y)

Ref Sequence

ENSEMBL: ENSMUSP00000132305 (fasta)

Gene Model

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

AlphaFold

E9Q1J0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034647
AA Change: N404Y

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000132305
Gene: ENSMUSG00000074500
AA Change: N404Y

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

0.1317

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	A	3: 137,775,520 (GRCm39)	V1570I	probably damaging	Het
Alx4	A	G	2: 93,473,106 (GRCm39)	R35G	probably damaging	Het
Apod	T	C	16: 31,116,211 (GRCm39)	D173G	probably benign	Het
Atp8b3	G	A	10: 80,361,858 (GRCm39)	T731I	possibly damaging	Het
Birc6	A	C	17: 74,947,145 (GRCm39)	T2955P	probably benign	Het
Cdh15	G	A	8: 123,587,612 (GRCm39)	D179N	probably damaging	Het
Cntnap5c	G	T	17: 58,717,263 (GRCm39)	V1282L	probably benign	Het
Crocc2	G	A	1: 93,141,372 (GRCm39)	R1175H	probably benign	Het
Dbh	A	G	2: 27,064,836 (GRCm39)	D349G	probably damaging	Het
Dync1h1	A	G	12: 110,605,278 (GRCm39)	I2372V	probably benign	Het
Fer1l4	A	T	2: 155,889,007 (GRCm39)	W389R	probably damaging	Het
Fndc1	T	C	17: 7,984,036 (GRCm39)	T1297A	unknown	Het
Gart	T	C	16: 91,422,321 (GRCm39)	N732S	probably damaging	Het
Gas2l2	T	C	11: 83,313,924 (GRCm39)	I463V	probably benign	Het
Gm5591	G	A	7: 38,220,072 (GRCm39)	S267L	probably benign	Het
Gzmk	A	G	13: 113,309,657 (GRCm39)	V92A	probably damaging	Het
Hspg2	C	T	4: 137,273,884 (GRCm39)	R2680W	probably damaging	Het
Insyn2a	A	G	7: 134,520,270 (GRCm39)	Y87H	probably damaging	Het
Kcnh3	G	A	15: 99,131,982 (GRCm39)	V646M	probably damaging	Het
Kcnk7	A	C	19: 5,756,463 (GRCm39)	I230L	probably benign	Het
Kif3b	C	T	2: 153,158,594 (GRCm39)	R132*	probably null	Het
Klra5	T	C	6: 129,885,776 (GRCm39)	S128G	probably benign	Het
Krba1	C	T	6: 48,383,282 (GRCm39)	R4*	probably null	Het
Krt1c	T	A	15: 101,726,026 (GRCm39)	I171F	probably damaging	Het
Lss	A	G	10: 76,372,089 (GRCm39)	D148G	probably benign	Het
Mavs	G	T	2: 131,082,370 (GRCm39)	A85S	probably damaging	Het
Mipep	T	C	14: 61,140,865 (GRCm39)	C566R	probably damaging	Het
Myocd	T	A	11: 65,069,254 (GRCm39)		probably benign	Het
Ndufa9	C	T	6: 126,804,498 (GRCm39)		probably null	Het
Nolc1	G	A	19: 46,071,959 (GRCm39)	G583D	probably damaging	Het
Nucb2	T	C	7: 116,127,059 (GRCm39)		probably null	Het
Or1i2	T	C	10: 78,448,409 (GRCm39)	D22G	probably benign	Het
Or52e19	C	T	7: 102,959,165 (GRCm39)	T79I	probably benign	Het
Or5p63	A	T	7: 107,811,301 (GRCm39)	I145N	possibly damaging	Het
Pank4	C	A	4: 155,061,076 (GRCm39)	D508E	probably benign	Het
Phb1	T	A	11: 95,562,416 (GRCm39)		probably benign	Het
Pign	T	A	1: 105,449,715 (GRCm39)		probably benign	Het
Plec	T	C	15: 76,076,382 (GRCm39)	K349E	probably benign	Het
Ppp1r3c	A	T	19: 36,711,743 (GRCm39)	V9E	possibly damaging	Het
Rap1gap	T	A	4: 137,443,422 (GRCm39)	V130D	probably damaging	Het
Senp3	T	A	11: 69,567,944 (GRCm39)	Y432F	probably benign	Het
Serpina3f	T	C	12: 104,183,549 (GRCm39)	I137T	possibly damaging	Het
Slc46a3	T	A	5: 147,823,540 (GRCm39)	K101*	probably null	Het
Snph	G	A	2: 151,436,434 (GRCm39)	Q96*	probably null	Het
Sptb	A	T	12: 76,630,581 (GRCm39)	C2244*	probably null	Het
Srbd1	A	T	17: 86,416,693 (GRCm39)	F488L	probably benign	Het
Ssc5d	A	T	7: 4,932,524 (GRCm39)	H396L	probably damaging	Het
Sulf1	A	C	1: 12,856,876 (GRCm39)	R42S	probably damaging	Het
Taf1a	T	A	1: 183,181,752 (GRCm39)		probably benign	Het
Thoc5	T	A	11: 4,876,218 (GRCm39)	M609K	probably damaging	Het
Tiam2	A	T	17: 3,568,617 (GRCm39)	I1588F	probably damaging	Het
Tmcc1	C	T	6: 116,020,247 (GRCm39)	V402I	probably damaging	Het
Tmprss15	T	C	16: 78,818,358 (GRCm39)	D524G	probably damaging	Het
Trbv31	T	C	6: 41,534,901 (GRCm39)	I21V	probably benign	Het
Vmn1r74	A	T	7: 11,581,398 (GRCm39)	T233S	possibly damaging	Het
Vmn1r74	G	C	7: 11,581,403 (GRCm39)	Q234H	probably damaging	Het
Vsx1	A	T	2: 150,530,529 (GRCm39)	S118T	probably benign	Het
Wnt9b	G	A	11: 103,621,949 (GRCm39)	T236I	probably benign	Het
Zbtb21	T	C	16: 97,751,092 (GRCm39)	T1092A	possibly damaging	Het
Zc3hc1	G	A	6: 30,387,523 (GRCm39)	T52I	probably benign	Het
Zfp735	A	T	11: 73,602,031 (GRCm39)	D325V	probably damaging	Het
Zhx3	A	T	2: 160,623,879 (GRCm39)	M96K	probably 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
R4537:Zfp558	UTSW	9	18,368,798 (GRCm39)	missense	probably null	0.72
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
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'- CTCAAACGCGTCTCAGAAAG -3'
(R):5'- GTCCTCGCTCACTGGACATAATAG -3'

Sequencing Primer
(F):5'- CATGGTGAAGCACTGACAGTTTCC -3'
(R):5'- TCGCTCACTGGACATAATAGCATTC -3'

Posted On

2015-09-25