Incidental Mutation 'IGL02586:Zfp518a'
ID 299535
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 # IGL02586
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,243,983 (GRCm39) I1949V possibly damaging Het
Anapc2 T A 2: 25,175,108 (GRCm39) M742K probably benign Het
Arhgef12 T A 9: 42,917,200 (GRCm39) K380* probably null Het
Armc1 G T 3: 19,188,192 (GRCm39) probably benign Het
Bltp1 G A 3: 37,098,757 (GRCm39) W4626* probably null Het
Diaph3 A T 14: 87,223,512 (GRCm39) L323* probably null Het
Fbxo11 C T 17: 88,318,711 (GRCm39) probably benign Het
Flywch1 C T 17: 23,974,676 (GRCm39) A655T probably benign Het
Frmpd1 A G 4: 45,285,160 (GRCm39) D1327G probably damaging Het
Ggact G A 14: 123,128,942 (GRCm39) T91I possibly damaging Het
Gm10250 T A 15: 5,150,412 (GRCm39) probably benign Het
Gsdmc4 T C 15: 63,765,641 (GRCm39) S303G probably damaging Het
Helt T C 8: 46,746,276 (GRCm39) E15G probably damaging Het
Kcnf1 T A 12: 17,226,144 (GRCm39) S26C probably benign Het
Lilra6 T C 7: 3,911,819 (GRCm39) T280A probably benign Het
Lipo3 A T 19: 33,559,539 (GRCm39) D110E possibly damaging Het
Mepe C A 5: 104,485,316 (GRCm39) T152N probably benign Het
Nr2f1 C A 13: 78,343,275 (GRCm39) probably benign Het
Or5ak24 T C 2: 85,260,810 (GRCm39) D121G possibly damaging Het
Or6c214 A G 10: 129,590,524 (GRCm39) I265T possibly damaging Het
Peg3 T C 7: 6,713,068 (GRCm39) D718G probably benign Het
Phf2 A T 13: 48,967,334 (GRCm39) probably benign Het
Pigc A T 1: 161,798,503 (GRCm39) I162F probably benign Het
Raf1 A G 6: 115,597,267 (GRCm39) L11P probably damaging Het
Rlf T C 4: 121,007,261 (GRCm39) Y573C probably damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Rnf149 T G 1: 39,604,296 (GRCm39) Q189P probably benign Het
Slc11a1 T C 1: 74,424,291 (GRCm39) probably benign Het
Slc22a12 C T 19: 6,590,487 (GRCm39) M234I probably benign Het
Slc28a1 A T 7: 80,814,167 (GRCm39) I455F probably benign Het
Slc35f5 T G 1: 125,512,273 (GRCm39) L358V probably damaging Het
Slc47a1 A T 11: 61,235,147 (GRCm39) V562D probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Ushbp1 T C 8: 71,841,394 (GRCm39) probably benign Het
Vmn1r88 T A 7: 12,911,735 (GRCm39) Y30* probably null Het
Vmn2r27 A T 6: 124,201,434 (GRCm39) Y174* probably null Het
Wwox T C 8: 115,438,947 (GRCm39) Y338H possibly damaging Het
Zup1 A T 10: 33,811,261 (GRCm39) probably benign 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
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
IGL02732: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