Incidental Mutation 'R2939:Zfp558'
ID264579
Institutional Source Beutler Lab
Gene Symbol Zfp558
Ensembl Gene ENSMUSG00000074500
Gene Namezinc finger protein 558
SynonymsZfp558-ps, 1700007A21Rik, 4932704I17Rik
MMRRC Submission 040516-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R2939 (G1)
Quality Score225
Status Validated
Chromosome9
Chromosomal Location18455575-18478268 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 18456628 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 288 (N288S)
Ref Sequence ENSEMBL: ENSMUSP00000132305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034647] [ENSMUST00000159596]
Predicted Effect possibly damaging
Transcript: ENSMUST00000034647
AA Change: N288S

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000132305
Gene: ENSMUSG00000074500
AA Change: N288S

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
KRAB 43 100 1.24e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162441
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174973
Meta Mutation Damage Score 0.234 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.6%
Validation Efficiency 98% (62/63)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik A G 4: 42,972,946 K760E probably benign Het
1810043G02Rik A G 10: 77,981,673 N78S probably benign Het
Actl11 T C 9: 107,931,210 Y911H possibly damaging Het
Arhgef26 A C 3: 62,380,910 K467T possibly damaging Het
Armcx6 A T X: 134,749,876 W69R probably damaging Het
Asl T C 5: 130,013,404 Y277C probably damaging Het
Atm T C 9: 53,494,711 Y1219C probably damaging Het
Azin2 C T 4: 128,934,604 C270Y probably benign Het
Brsk1 A T 7: 4,708,140 I545F possibly damaging Het
Carm1 C A 9: 21,579,396 probably null Het
Cfap69 G A 5: 5,644,432 A143V probably damaging Het
Cldn14 T C 16: 93,919,304 K218R probably damaging Het
Col5a3 T C 9: 20,795,658 K714R unknown Het
Crybg2 A G 4: 134,082,434 H1517R possibly damaging Het
Dagla A C 19: 10,256,364 F382C probably damaging Het
Dixdc1 G A 9: 50,710,959 A25V probably damaging Het
Dock6 A G 9: 21,839,200 F473L possibly damaging Het
Eif5 T C 12: 111,540,279 C102R probably damaging Het
Faiml A G 9: 99,232,474 C121R probably damaging Het
Fam71a T C 1: 191,163,906 D180G possibly damaging Het
Fhdc1 A G 3: 84,457,270 V223A possibly damaging Het
Gm13101 A G 4: 143,966,677 V77A probably benign Het
Gpatch8 A G 11: 102,508,184 V74A unknown Het
Haghl A G 17: 25,785,086 V8A possibly damaging Het
Ksr1 A G 11: 79,045,181 probably null Het
Lama5 A C 2: 180,198,954 Y584D probably damaging Het
Lgi4 C T 7: 31,067,828 R427* probably null Het
Lrriq1 T A 10: 103,144,889 S1462C probably damaging Het
Map3k4 C T 17: 12,261,270 E682K probably damaging Het
Myo9b G A 8: 71,334,337 R721Q probably benign Het
Nmnat2 C A 1: 153,074,728 S53Y probably damaging Het
Olfr870 C A 9: 20,170,765 G269W probably benign Het
Olfr954 G A 9: 39,461,930 M166I probably benign Het
Pcsk7 C T 9: 45,916,024 A363V probably damaging Het
Pdrg1 C T 2: 153,012,435 G62R probably damaging Het
Pdzd7 A G 19: 45,045,423 I74T possibly damaging Het
Plcb4 T C 2: 135,939,203 probably benign Het
Rnf25 A G 1: 74,595,888 V135A possibly damaging Het
Rph3a A G 5: 120,980,149 probably benign Het
Rsf1 CG CGACGGCGGTG 7: 97,579,908 probably benign Het
Senp6 G A 9: 80,143,842 A1134T probably benign Het
Slc1a6 G T 10: 78,814,614 *562L probably null Het
Slc26a6 G A 9: 108,857,037 V206I probably benign Het
Slc45a3 A G 1: 131,977,899 E206G probably damaging Het
Slc9a3r1 C T 11: 115,180,444 R335C probably damaging Het
Smc1a T A X: 152,033,699 Y516N probably damaging Het
Smpd3 A G 8: 106,257,407 V560A probably benign Het
Ssc4d T C 5: 135,965,724 T51A possibly damaging Het
Suco A G 1: 161,848,651 I386T probably damaging Het
Tecta A T 9: 42,377,994 M425K possibly damaging Het
Tmprss11e G A 5: 86,721,407 R96W probably damaging Het
Trim63 T C 4: 134,322,997 probably benign Het
Trpv1 A G 11: 73,254,849 K403R probably damaging Het
Ttc39d A G 17: 80,217,553 Y547C probably damaging Het
Unc79 C T 12: 102,991,425 T33I probably damaging Het
Usp47 G A 7: 112,082,536 S518N probably damaging Het
Vmn2r22 T A 6: 123,637,635 D332V probably damaging Het
Vmn2r55 A G 7: 12,651,905 L716P probably damaging Het
Other mutations in Zfp558
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00532:Zfp558 APN 9 18456587 missense possibly damaging 0.72
IGL00722:Zfp558 APN 9 18456521 missense probably damaging 0.97
R0270:Zfp558 UTSW 9 18467956 missense probably damaging 1.00
R0708:Zfp558 UTSW 9 18456827 missense possibly damaging 0.75
R1521:Zfp558 UTSW 9 18456563 missense possibly damaging 0.86
R1618:Zfp558 UTSW 9 18469283 missense possibly damaging 0.73
R2323:Zfp558 UTSW 9 18469277 critical splice donor site probably null
R4537:Zfp558 UTSW 9 18457502 missense probably null 0.72
R4569:Zfp558 UTSW 9 18456503 missense possibly damaging 0.72
R4570:Zfp558 UTSW 9 18456503 missense possibly damaging 0.72
R4571:Zfp558 UTSW 9 18456503 missense possibly damaging 0.72
R4619:Zfp558 UTSW 9 18456281 missense possibly damaging 0.96
R5207:Zfp558 UTSW 9 18457000 missense possibly damaging 0.93
R5530:Zfp558 UTSW 9 18456373 missense probably benign 0.05
R6631:Zfp558 UTSW 9 18456923 nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGCACAGACAGGTAGGAGTTAC -3'
(R):5'- TCATGGAATGAAAGTCAATGAGTGC -3'

Sequencing Primer
(F):5'- TCCACAGTGGTTACATCCATAGGG -3'
(R):5'- GTACCCAGTGTGGAAAATCCTTC -3'
Posted On2015-02-05