Incidental Mutation 'IGL02589:Zfp518a'
ID299657
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp518a
Ensembl Gene ENSMUSG00000049164
Gene Namezinc finger protein 518A
Synonyms6330417C12Rik, 2810401C22Rik, Zfp518
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.754) question?
Stock #IGL02589
Quality Score
Status
Chromosome19
Chromosomal Location40894705-40917947 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 40914617 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Arginine at position 997 (G997R)
Ref Sequence ENSEMBL: ENSMUSP00000055956 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050092]
Predicted Effect probably damaging
Transcript: ENSMUST00000050092
AA Change: G997R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055956
Gene: ENSMUSG00000049164
AA Change: G997R

DomainStartEndE-ValueType
ZnF_C2H2 121 146 1.38e2 SMART
ZnF_C2H2 152 174 4.98e-1 SMART
ZnF_C2H2 179 203 6.75e0 SMART
ZnF_C2H2 209 231 4.34e-1 SMART
ZnF_C2H2 236 258 1.33e-1 SMART
ZnF_C2H2 264 287 9.44e-2 SMART
low complexity region 308 319 N/A INTRINSIC
low complexity region 407 418 N/A INTRINSIC
low complexity region 544 563 N/A INTRINSIC
low complexity region 671 680 N/A INTRINSIC
low complexity region 814 825 N/A INTRINSIC
low complexity region 1147 1164 N/A INTRINSIC
low complexity region 1417 1424 N/A INTRINSIC
ZnF_C2H2 1444 1466 1.33e1 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the krueppel C2H2-type zinc finger protein family. The encoded protein contains five zinc fingers and is likely a nuclear transcriptional regulator. Numerous transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2016]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410015M20Rik T C 17: 56,608,856 E66G probably benign Het
5430403G16Rik T A 5: 109,678,520 H62L possibly damaging Het
A2ml1 T G 6: 128,581,500 I5L probably benign Het
Ang6 A G 14: 44,001,962 I103T possibly damaging Het
Arhgdib A G 6: 136,933,578 probably benign Het
Atp13a2 C T 4: 141,006,411 T1037M probably damaging Het
Bptf T C 11: 107,111,531 N252D possibly damaging Het
Capn2 T C 1: 182,484,348 Y387C probably damaging Het
Cdc27 T G 11: 104,505,644 D817A probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cntnap3 T G 13: 64,792,430 I318L probably benign Het
Cog6 A T 3: 53,007,270 L255Q probably damaging Het
Ect2l T A 10: 18,140,594 probably benign Het
Ercc5 T C 1: 44,164,049 V282A probably damaging Het
Fras1 A G 5: 96,769,513 D3464G probably damaging Het
Gabrg1 A T 5: 70,842,152 L18* probably null Het
Ggcx T C 6: 72,429,148 Y586H probably damaging Het
Gm5796 A T 14: 4,033,828 K24* probably null Het
Gnb4 C T 3: 32,589,849 V187M probably damaging Het
Gpt2 C T 8: 85,516,166 Q276* probably null Het
Idnk G T 13: 58,163,425 probably benign Het
Igkv3-9 A G 6: 70,588,699 D94G possibly damaging Het
Ipo8 C A 6: 148,809,907 L294F probably damaging Het
Itgad A T 7: 128,181,711 D157V probably damaging Het
Kcnab3 A T 11: 69,332,102 I392L probably benign Het
Kdm3b A G 18: 34,812,418 S761G possibly damaging Het
Kif21a G A 15: 90,985,286 T454M probably damaging Het
Lta4h A G 10: 93,474,931 N441S probably benign Het
Man2a1 A G 17: 64,679,778 E595G probably benign Het
Mvd T C 8: 122,438,034 probably benign Het
Notch2 A G 3: 98,104,347 probably null Het
Phf20l1 G T 15: 66,615,632 probably benign Het
Rdm1 A G 11: 101,628,005 S13G possibly damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Scn4a G T 11: 106,328,132 D953E probably benign Het
Sh2b1 A G 7: 126,469,268 I457T probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tagap C A 17: 7,933,672 T563K possibly damaging Het
Ugt1a7c T C 1: 88,095,638 I173T probably benign Het
Unc79 C T 12: 103,173,496 A2370V probably damaging Het
Vmn2r102 T A 17: 19,681,218 C536S probably damaging Het
Vmn2r53 G A 7: 12,581,945 T649I possibly damaging Het
Whrn G A 4: 63,418,097 Q301* probably null Het
Other mutations in Zfp518a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00508:Zfp518a APN 19 40913470 missense probably damaging 0.99
IGL00647:Zfp518a APN 19 40914686 missense probably damaging 1.00
IGL01468:Zfp518a APN 19 40916031 missense probably benign 0.25
IGL02079:Zfp518a APN 19 40914617 missense probably damaging 1.00
IGL02080:Zfp518a APN 19 40914617 missense probably damaging 1.00
IGL02437:Zfp518a APN 19 40914617 missense probably damaging 1.00
IGL02466:Zfp518a APN 19 40914617 missense probably damaging 1.00
IGL02470:Zfp518a APN 19 40914617 missense probably damaging 1.00
IGL02471:Zfp518a APN 19 40914617 missense probably damaging 1.00
IGL02472:Zfp518a APN 19 40914617 missense probably damaging 1.00
IGL02500:Zfp518a APN 19 40914617 missense probably damaging 1.00
IGL02537:Zfp518a APN 19 40914617 missense probably damaging 1.00
IGL02537:Zfp518a APN 19 40915430 missense probably benign 0.05
IGL02546:Zfp518a APN 19 40914617 missense probably damaging 1.00
IGL02547:Zfp518a APN 19 40914617 missense probably damaging 1.00
IGL02561:Zfp518a APN 19 40914617 missense probably damaging 1.00
IGL02568:Zfp518a APN 19 40914617 missense probably damaging 1.00
IGL02583:Zfp518a APN 19 40914617 missense probably damaging 1.00
IGL02584:Zfp518a APN 19 40914617 missense probably damaging 1.00
IGL02586:Zfp518a APN 19 40914617 missense probably damaging 1.00
IGL02614:Zfp518a APN 19 40914617 missense probably damaging 1.00
IGL02732:Zfp518a APN 19 40914617 missense probably damaging 1.00
IGL02961:Zfp518a APN 19 40915018 missense probably benign 0.44
IGL02985:Zfp518a APN 19 40913667 missense possibly damaging 0.92
R0137:Zfp518a UTSW 19 40915866 missense probably damaging 1.00
R0218:Zfp518a UTSW 19 40912628 missense probably benign 0.25
R0367:Zfp518a UTSW 19 40912221 missense probably damaging 1.00
R0575:Zfp518a UTSW 19 40912315 missense probably damaging 1.00
R1418:Zfp518a UTSW 19 40914359 missense probably damaging 1.00
R1795:Zfp518a UTSW 19 40915556 missense probably benign 0.05
R1965:Zfp518a UTSW 19 40913510 missense probably benign 0.00
R2076:Zfp518a UTSW 19 40914327 missense probably damaging 1.00
R3796:Zfp518a UTSW 19 40915310 missense probably damaging 1.00
R3799:Zfp518a UTSW 19 40915310 missense probably damaging 1.00
R3807:Zfp518a UTSW 19 40914797 missense possibly damaging 0.90
R3904:Zfp518a UTSW 19 40914920 nonsense probably null
R3959:Zfp518a UTSW 19 40912698 missense probably damaging 1.00
R4630:Zfp518a UTSW 19 40912979 nonsense probably null
R4662:Zfp518a UTSW 19 40911860 missense probably benign 0.01
R4844:Zfp518a UTSW 19 40914896 missense probably damaging 0.99
R4911:Zfp518a UTSW 19 40915528 missense probably benign 0.04
R4934:Zfp518a UTSW 19 40914263 missense probably benign 0.01
R4964:Zfp518a UTSW 19 40915851 missense possibly damaging 0.94
R4966:Zfp518a UTSW 19 40915851 missense possibly damaging 0.94
R5373:Zfp518a UTSW 19 40913510 missense probably benign 0.00
R5374:Zfp518a UTSW 19 40913510 missense probably benign 0.00
R5378:Zfp518a UTSW 19 40915856 missense probably damaging 1.00
R5509:Zfp518a UTSW 19 40915401 missense possibly damaging 0.60
R5891:Zfp518a UTSW 19 40912433 missense probably damaging 1.00
R6187:Zfp518a UTSW 19 40915446 missense probably benign 0.03
R6259:Zfp518a UTSW 19 40912781 missense probably benign 0.01
R6260:Zfp518a UTSW 19 40914123 missense probably benign 0.00
R6763:Zfp518a UTSW 19 40913748 missense probably damaging 1.00
X0028:Zfp518a UTSW 19 40914933 missense possibly damaging 0.61
X0065:Zfp518a UTSW 19 40914182 nonsense probably null
Posted On2015-04-16