Incidental Mutation 'IGL02472:Zfp518a'
ID 294763
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 # IGL02472
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik A G 15: 76,834,578 (GRCm39) N158S probably damaging Het
Ankrd17 A C 5: 90,412,010 (GRCm39) L1285V probably damaging Het
Atp8b2 G A 3: 89,861,546 (GRCm39) T267I probably damaging Het
Becn1 C T 11: 101,182,224 (GRCm39) G115D probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Chd6 A C 2: 160,826,372 (GRCm39) probably benign Het
Col22a1 A G 15: 71,699,602 (GRCm39) probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dnm2 A G 9: 21,397,004 (GRCm39) I494V possibly damaging Het
Dock2 T A 11: 34,199,801 (GRCm39) E1416D probably benign Het
Eif2ak1 A G 5: 143,821,701 (GRCm39) H339R probably benign Het
Espnl C T 1: 91,268,256 (GRCm39) P294L probably benign Het
Ftmt T A 18: 52,464,912 (GRCm39) I76N possibly damaging Het
Gorasp2 T G 2: 70,506,803 (GRCm39) probably benign Het
Hadhb T A 5: 30,389,061 (GRCm39) M468K possibly damaging Het
Hfm1 A G 5: 107,021,794 (GRCm39) probably benign Het
Inpp5j T C 11: 3,445,338 (GRCm39) probably benign Het
Ipo7 T A 7: 109,640,060 (GRCm39) F288I probably damaging Het
Kcnv1 T A 15: 44,972,519 (GRCm39) K455* probably null Het
Kdm5a A G 6: 120,383,691 (GRCm39) probably benign Het
Kmt2d G A 15: 98,747,958 (GRCm39) S3122F probably benign Het
Kndc1 A G 7: 139,490,817 (GRCm39) I440V probably benign Het
Mib2 T A 4: 155,741,203 (GRCm39) I545F probably damaging Het
Nav2 C T 7: 49,195,789 (GRCm39) P1055L probably damaging Het
Or4c10b T A 2: 89,711,755 (GRCm39) I195N probably benign Het
Or5v1b C A 17: 37,841,640 (GRCm39) F257L probably damaging Het
Plch1 A T 3: 63,609,270 (GRCm39) L65Q probably damaging Het
Polr1g T C 7: 19,093,030 (GRCm39) D50G probably damaging Het
Ppp3ca A G 3: 136,627,623 (GRCm39) I396V possibly damaging Het
Ryr1 A T 7: 28,740,269 (GRCm39) N3917K probably damaging Het
Scn7a T C 2: 66,582,658 (GRCm39) T80A probably damaging Het
Sema3f C T 9: 107,564,935 (GRCm39) E307K probably damaging Het
Serpinb9b A T 13: 33,223,953 (GRCm39) probably benign Het
Siglec15 T A 18: 78,086,832 (GRCm39) K342N possibly damaging Het
Slc2a12 T C 10: 22,541,054 (GRCm39) F303S probably damaging Het
Slc9c1 T C 16: 45,400,505 (GRCm39) V705A probably benign Het
Tenm4 T C 7: 96,423,383 (GRCm39) probably benign Het
Tm6sf1 A T 7: 81,525,572 (GRCm39) probably benign Het
Tmem245 T C 4: 56,899,119 (GRCm39) Y269C probably damaging Het
Txndc2 A G 17: 65,944,971 (GRCm39) I402T possibly damaging Het
Ube4b A G 4: 149,471,536 (GRCm39) probably null Het
Usp28 T A 9: 48,949,069 (GRCm39) Y863N possibly damaging Het
Vmn2r69 T C 7: 85,058,960 (GRCm39) I534V probably benign Het
Wdr89 A T 12: 75,679,743 (GRCm39) D170E probably damaging Het
Zfp280d C A 9: 72,208,993 (GRCm39) N74K probably 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
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
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