Incidental Mutation 'IGL02732:Zfp518a'
ID 305488
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp518a
Ensembl Gene ENSMUSG00000049164
Gene Name zinc finger protein 518A
Synonyms 6330417C12Rik, Zfp518, 2810401C22Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.926) question?
Stock # IGL02732
Quality Score
Status
Chromosome 19
Chromosomal Location 40883149-40906391 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 40903061 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 997 (G997R)
Ref Sequence ENSEMBL: ENSMUSP00000055956 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050092]
AlphaFold B2RRF6
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apoo-ps C A 13: 107,551,123 (GRCm39) noncoding transcript Het
Ash1l T A 3: 88,873,535 (GRCm39) V106E probably damaging Het
Baz2a A G 10: 127,961,044 (GRCm39) T1618A possibly damaging Het
Brca1 A G 11: 101,383,045 (GRCm39) S1732P probably benign Het
Cdh1 T A 8: 107,392,955 (GRCm39) I813N probably damaging Het
Cdk5rap2 G A 4: 70,184,902 (GRCm39) R1183* probably null Het
Cep170 C T 1: 176,564,440 (GRCm39) E1479K probably damaging Het
Cep68 A T 11: 20,186,109 (GRCm39) probably benign Het
Cog7 C T 7: 121,522,590 (GRCm39) V750I probably benign Het
Cplane1 A G 15: 8,209,375 (GRCm39) T271A probably benign Het
Cyb5d1 A C 11: 69,284,635 (GRCm39) probably null Het
Dlgap4 A G 2: 156,591,243 (GRCm39) K120E probably benign Het
Dmtf1 T C 5: 9,186,098 (GRCm39) I75V possibly damaging Het
Fnip2 T C 3: 79,373,004 (GRCm39) T995A probably damaging Het
Hecw2 G A 1: 53,965,847 (GRCm39) probably benign Het
Il17rd T A 14: 26,809,376 (GRCm39) F111I probably damaging Het
Itgb8 A C 12: 119,127,088 (GRCm39) M722R probably benign Het
Maip1 A G 1: 57,449,114 (GRCm39) D165G probably damaging Het
Mcm6 A T 1: 128,287,227 (GRCm39) C26S probably benign Het
Mdp1 T C 14: 55,896,678 (GRCm39) I128V possibly damaging Het
Myof A T 19: 37,966,164 (GRCm39) F385L possibly damaging Het
Nebl C T 2: 17,457,295 (GRCm39) probably benign Het
Nusap1 A G 2: 119,466,061 (GRCm39) E227G probably damaging Het
Or4b13 A G 2: 90,082,652 (GRCm39) S227P probably damaging Het
Or51m1 T G 7: 103,578,336 (GRCm39) M102R probably damaging Het
Or52e3 A C 7: 102,869,447 (GRCm39) N174T probably benign Het
Pamr1 A T 2: 102,472,486 (GRCm39) H595L probably benign Het
Pate5 C T 9: 35,750,345 (GRCm39) G109D probably damaging Het
Pdgfc G A 3: 80,944,864 (GRCm39) probably benign Het
Pierce1 T C 2: 28,355,192 (GRCm39) N91S probably damaging Het
Ptpn22 A T 3: 103,793,349 (GRCm39) E500V probably damaging Het
Ptprg G T 14: 12,225,617 (GRCm38) probably null Het
R3hdm2 T C 10: 127,319,929 (GRCm39) F513L probably benign Het
Ramac T C 7: 81,417,473 (GRCm39) probably null Het
Rhobtb3 C A 13: 76,059,056 (GRCm39) L247F probably damaging Het
Scfd1 T C 12: 51,469,756 (GRCm39) S434P probably benign Het
Serpinb3d T A 1: 107,010,526 (GRCm39) probably null Het
Sin3b T C 8: 73,460,081 (GRCm39) F223L possibly damaging Het
Slc9c1 T C 16: 45,370,548 (GRCm39) V263A possibly damaging Het
Sntb1 A G 15: 55,655,596 (GRCm39) S207P possibly damaging Het
Sqor A T 2: 122,641,682 (GRCm39) T1S possibly damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Ssh2 A G 11: 77,328,602 (GRCm39) probably null Het
Tasor2 A G 13: 3,623,626 (GRCm39) V2108A probably benign Het
Tmod2 A G 9: 75,493,454 (GRCm39) V167A possibly damaging Het
Trak2 G A 1: 58,949,222 (GRCm39) T526M probably benign Het
Trdn G A 10: 33,344,195 (GRCm39) probably null Het
Trim5 T A 7: 103,927,672 (GRCm39) E156V probably benign Het
Twf1 A G 15: 94,478,890 (GRCm39) S273P probably damaging Het
Xylt1 T C 7: 117,191,164 (GRCm39) V320A possibly damaging Het
Other mutations in Zfp518a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00508:Zfp518a APN 19 40,901,914 (GRCm39) missense probably damaging 0.99
IGL00647:Zfp518a APN 19 40,903,130 (GRCm39) missense probably damaging 1.00
IGL01468:Zfp518a APN 19 40,904,475 (GRCm39) missense probably benign 0.25
IGL02079:Zfp518a APN 19 40,903,061 (GRCm39) missense probably damaging 1.00
IGL02080:Zfp518a APN 19 40,903,061 (GRCm39) missense probably damaging 1.00
IGL02437:Zfp518a APN 19 40,903,061 (GRCm39) missense probably damaging 1.00
IGL02466:Zfp518a APN 19 40,903,061 (GRCm39) missense probably damaging 1.00
IGL02470:Zfp518a APN 19 40,903,061 (GRCm39) missense probably damaging 1.00
IGL02471:Zfp518a APN 19 40,903,061 (GRCm39) missense probably damaging 1.00
IGL02472:Zfp518a APN 19 40,903,061 (GRCm39) missense probably damaging 1.00
IGL02500:Zfp518a APN 19 40,903,061 (GRCm39) missense probably damaging 1.00
IGL02537:Zfp518a APN 19 40,903,874 (GRCm39) missense probably benign 0.05
IGL02537:Zfp518a APN 19 40,903,061 (GRCm39) missense probably damaging 1.00
IGL02546:Zfp518a APN 19 40,903,061 (GRCm39) missense probably damaging 1.00
IGL02547:Zfp518a APN 19 40,903,061 (GRCm39) missense probably damaging 1.00
IGL02561:Zfp518a APN 19 40,903,061 (GRCm39) missense probably damaging 1.00
IGL02568:Zfp518a APN 19 40,903,061 (GRCm39) missense probably damaging 1.00
IGL02583:Zfp518a APN 19 40,903,061 (GRCm39) missense probably damaging 1.00
IGL02584:Zfp518a APN 19 40,903,061 (GRCm39) missense probably damaging 1.00
IGL02586:Zfp518a APN 19 40,903,061 (GRCm39) missense probably damaging 1.00
IGL02589:Zfp518a APN 19 40,903,061 (GRCm39) missense probably damaging 1.00
IGL02614:Zfp518a APN 19 40,903,061 (GRCm39) missense probably damaging 1.00
IGL02961:Zfp518a APN 19 40,903,462 (GRCm39) missense probably benign 0.44
IGL02985:Zfp518a APN 19 40,902,111 (GRCm39) missense possibly damaging 0.92
R4630_zfp518a_157 UTSW 19 40,901,423 (GRCm39) nonsense probably null
R0137:Zfp518a UTSW 19 40,904,310 (GRCm39) missense probably damaging 1.00
R0218:Zfp518a UTSW 19 40,901,072 (GRCm39) missense probably benign 0.25
R0367:Zfp518a UTSW 19 40,900,665 (GRCm39) missense probably damaging 1.00
R0575:Zfp518a UTSW 19 40,900,759 (GRCm39) missense probably damaging 1.00
R1418:Zfp518a UTSW 19 40,902,803 (GRCm39) missense probably damaging 1.00
R1795:Zfp518a UTSW 19 40,904,000 (GRCm39) missense probably benign 0.05
R1965:Zfp518a UTSW 19 40,901,954 (GRCm39) missense probably benign 0.00
R2076:Zfp518a UTSW 19 40,902,771 (GRCm39) missense probably damaging 1.00
R3796:Zfp518a UTSW 19 40,903,754 (GRCm39) missense probably damaging 1.00
R3799:Zfp518a UTSW 19 40,903,754 (GRCm39) missense probably damaging 1.00
R3807:Zfp518a UTSW 19 40,903,241 (GRCm39) missense possibly damaging 0.90
R3904:Zfp518a UTSW 19 40,903,364 (GRCm39) nonsense probably null
R3959:Zfp518a UTSW 19 40,901,142 (GRCm39) missense probably damaging 1.00
R4630:Zfp518a UTSW 19 40,901,423 (GRCm39) nonsense probably null
R4662:Zfp518a UTSW 19 40,900,304 (GRCm39) missense probably benign 0.01
R4844:Zfp518a UTSW 19 40,903,340 (GRCm39) missense probably damaging 0.99
R4911:Zfp518a UTSW 19 40,903,972 (GRCm39) missense probably benign 0.04
R4934:Zfp518a UTSW 19 40,902,707 (GRCm39) missense probably benign 0.01
R4964:Zfp518a UTSW 19 40,904,295 (GRCm39) missense possibly damaging 0.94
R4966:Zfp518a UTSW 19 40,904,295 (GRCm39) missense possibly damaging 0.94
R5373:Zfp518a UTSW 19 40,901,954 (GRCm39) missense probably benign 0.00
R5374:Zfp518a UTSW 19 40,901,954 (GRCm39) missense probably benign 0.00
R5378:Zfp518a UTSW 19 40,904,300 (GRCm39) missense probably damaging 1.00
R5509:Zfp518a UTSW 19 40,903,845 (GRCm39) missense possibly damaging 0.60
R5891:Zfp518a UTSW 19 40,900,877 (GRCm39) missense probably damaging 1.00
R6187:Zfp518a UTSW 19 40,903,890 (GRCm39) missense probably benign 0.03
R6259:Zfp518a UTSW 19 40,901,225 (GRCm39) missense probably benign 0.01
R6260:Zfp518a UTSW 19 40,902,567 (GRCm39) missense probably benign 0.00
R6763:Zfp518a UTSW 19 40,902,192 (GRCm39) missense probably damaging 1.00
R7419:Zfp518a UTSW 19 40,902,207 (GRCm39) missense possibly damaging 0.94
R7448:Zfp518a UTSW 19 40,902,601 (GRCm39) missense possibly damaging 0.70
R7719:Zfp518a UTSW 19 40,901,212 (GRCm39) missense probably benign 0.01
R7753:Zfp518a UTSW 19 40,904,249 (GRCm39) missense possibly damaging 0.47
R8181:Zfp518a UTSW 19 40,902,415 (GRCm39) missense probably damaging 1.00
R8470:Zfp518a UTSW 19 40,904,162 (GRCm39) missense probably benign 0.01
R8905:Zfp518a UTSW 19 40,902,780 (GRCm39) missense probably damaging 1.00
R8911:Zfp518a UTSW 19 40,901,870 (GRCm39) missense possibly damaging 0.87
R8912:Zfp518a UTSW 19 40,901,870 (GRCm39) missense possibly damaging 0.87
R8917:Zfp518a UTSW 19 40,901,870 (GRCm39) missense possibly damaging 0.87
R8918:Zfp518a UTSW 19 40,901,870 (GRCm39) missense possibly damaging 0.87
R8968:Zfp518a UTSW 19 40,901,870 (GRCm39) missense possibly damaging 0.87
R9029:Zfp518a UTSW 19 40,901,225 (GRCm39) missense probably benign
R9335:Zfp518a UTSW 19 40,901,225 (GRCm39) missense probably benign
R9336:Zfp518a UTSW 19 40,901,225 (GRCm39) missense probably benign
R9581:Zfp518a UTSW 19 40,900,156 (GRCm39) missense probably damaging 1.00
R9750:Zfp518a UTSW 19 40,903,889 (GRCm39) missense possibly damaging 0.95
X0028:Zfp518a UTSW 19 40,903,377 (GRCm39) missense possibly damaging 0.61
X0065:Zfp518a UTSW 19 40,902,626 (GRCm39) nonsense probably null
Posted On 2015-04-16