Incidental Mutation 'R9029:Zfp518a'
ID 686968
Institutional Source Beutler Lab
Gene Symbol Zfp518a
Ensembl Gene ENSMUSG00000049164
Gene Name zinc finger protein 518A
Synonyms 6330417C12Rik, Zfp518, 2810401C22Rik
MMRRC Submission 068858-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.926) question?
Stock # R9029 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 40883149-40906391 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 40901225 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 385 (V385I)
Ref Sequence ENSEMBL: ENSMUSP00000055956 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050092]
AlphaFold B2RRF6
Predicted Effect probably benign
Transcript: ENSMUST00000050092
AA Change: V385I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000055956
Gene: ENSMUSG00000049164
AA Change: V385I

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (56/56)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd35 A T 3: 96,591,460 (GRCm39) K582M probably benign Het
Catsper3 T G 13: 55,954,147 (GRCm39) V305G probably damaging Het
Chd9 G A 8: 91,683,198 (GRCm39) R546Q unknown Het
Cnot6l G A 5: 96,246,136 (GRCm39) T171I probably benign Het
Cpne3 A G 4: 19,535,292 (GRCm39) Y247H possibly damaging Het
Cramp1 C G 17: 25,232,884 (GRCm39) A39P probably damaging Het
Cyp26b1 A T 6: 84,554,035 (GRCm39) V194E probably benign Het
Dchs1 A G 7: 105,402,919 (GRCm39) S3208P probably benign Het
Dhrs3 A G 4: 144,653,755 (GRCm39) Y292C probably damaging Het
Eif3l T C 15: 78,968,412 (GRCm39) V227A probably damaging Het
Eif4enif1 T C 11: 3,174,716 (GRCm39) V290A probably damaging Het
Epb41l4a A C 18: 34,012,042 (GRCm39) Y159* probably null Het
Gm5460 T A 14: 33,739,326 (GRCm39) S103T Het
Gsto1 A T 19: 47,852,837 (GRCm39) Y224F probably benign Het
Hpd G A 5: 123,313,973 (GRCm39) T271M probably damaging Het
Ift74 T C 4: 94,506,271 (GRCm39) I18T probably benign Het
Kif12 A G 4: 63,087,704 (GRCm39) C260R probably damaging Het
Klk15 C T 7: 43,587,790 (GRCm39) H73Y possibly damaging Het
Luc7l3 A G 11: 94,188,676 (GRCm39) V201A unknown Het
Mcrip2 T C 17: 26,082,989 (GRCm39) E146G probably damaging Het
Mctp1 T A 13: 76,836,741 (GRCm39) Y323N probably benign Het
Micu2 T A 14: 58,156,363 (GRCm39) I370F probably damaging Het
Mug2 T A 6: 122,061,328 (GRCm39) V1416E probably damaging Het
Mup3 T C 4: 62,003,540 (GRCm39) N110D probably damaging Het
Nav3 C T 10: 109,699,613 (GRCm39) D294N possibly damaging Het
Nphs2 G A 1: 156,140,592 (GRCm39) A110T probably benign Het
Or1a1 T C 11: 74,086,563 (GRCm39) I78T possibly damaging Het
Or5t7 A G 2: 86,506,831 (GRCm39) M282T probably damaging Het
Or6c215 G T 10: 129,637,926 (GRCm39) P156Q probably damaging Het
Otof C T 5: 30,527,419 (GRCm39) probably null Het
Pgrmc2 G T 3: 41,037,105 (GRCm39) R109S probably benign Het
Plb1 G A 5: 32,439,079 (GRCm39) V214I probably damaging Het
Ppp2r5d C T 17: 46,998,906 (GRCm39) S52N probably benign Het
Rrp12 C A 19: 41,859,718 (GRCm39) E1082* probably null Het
Skint3 A G 4: 112,111,151 (GRCm39) E92G probably damaging Het
Slc12a1 C G 2: 124,996,004 (GRCm39) N52K probably benign Het
Smu1 A G 4: 40,738,361 (GRCm39) Y458H probably damaging Het
Spsb3 C T 17: 25,110,506 (GRCm39) P317S unknown Het
Ssc5d A T 7: 4,930,919 (GRCm39) Q167L probably damaging Het
Ssh2 T C 11: 77,328,454 (GRCm39) V340A probably damaging Het
Stag3 G A 5: 138,296,296 (GRCm39) R453H probably damaging Het
Svil T A 18: 5,056,239 (GRCm39) F371I probably benign Het
Tas2r140 A C 6: 133,032,181 (GRCm39) S192R possibly damaging Het
Tdrp T C 8: 14,003,840 (GRCm39) I166V possibly damaging Het
Tgm3 C A 2: 129,871,680 (GRCm39) Q269K probably benign Het
Thsd7b G A 1: 130,087,426 (GRCm39) C1181Y probably damaging Het
Tinag A T 9: 76,934,296 (GRCm39) probably benign Het
Tnrc6b T C 15: 80,763,179 (GRCm39) V227A possibly damaging Het
Tox3 A C 8: 90,996,864 (GRCm39) L133R possibly damaging Het
Tshz1 A T 18: 84,031,639 (GRCm39) I923N probably damaging Het
Vps13c T A 9: 67,855,429 (GRCm39) V2498D probably damaging Het
Vps41 T A 13: 18,994,723 (GRCm39) probably null Het
Xylt2 T C 11: 94,555,462 (GRCm39) D850G probably damaging Het
Zfp229 T A 17: 21,964,321 (GRCm39) S184T possibly damaging Het
Zfp595 C A 13: 67,468,989 (GRCm39) M12I probably benign Het
Zfp750 T C 11: 121,403,149 (GRCm39) Q533R 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
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
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
Predicted Primers PCR Primer
(F):5'- CACTACTGTAGCTATGGTGCC -3'
(R):5'- ACTTAGCACTGTAGTTAGCAGG -3'

Sequencing Primer
(F):5'- GCTATGGTGCCATTCATAAAGACC -3'
(R):5'- CTTAGCACTGTAGTTAGCAGGAATTG -3'
Posted On 2021-11-19