Incidental Mutation 'R4630:Zfp518a'
ID 349157
Institutional Source Beutler Lab
Gene Symbol Zfp518a
Ensembl Gene ENSMUSG00000049164
Gene Name zinc finger protein 518A
Synonyms 6330417C12Rik, Zfp518, 2810401C22Rik
MMRRC Submission 041895-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.926) question?
Stock # R4630 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 40883149-40906391 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 40901423 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 451 (Q451*)
Ref Sequence ENSEMBL: ENSMUSP00000055956 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050092]
AlphaFold B2RRF6
Predicted Effect probably null
Transcript: ENSMUST00000050092
AA Change: Q451*
SMART Domains Protein: ENSMUSP00000055956
Gene: ENSMUSG00000049164
AA Change: Q451*

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
Meta Mutation Damage Score 0.9665 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 97% (74/76)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110070M22Rik A T 13: 119,624,622 (GRCm39) probably benign Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Aopep T C 13: 63,215,906 (GRCm39) S393P probably benign Het
BC024139 T G 15: 76,009,294 (GRCm39) Q240P probably benign Het
Bckdha A T 7: 25,330,884 (GRCm39) I44N probably damaging Het
Brpf1 T C 6: 113,286,867 (GRCm39) Y32H probably damaging Het
Catip A G 1: 74,408,072 (GRCm39) probably benign Het
Ccdc138 T C 10: 58,409,477 (GRCm39) L602P probably damaging Het
Cilp A T 9: 65,187,162 (GRCm39) T1086S probably benign Het
Comp A T 8: 70,827,032 (GRCm39) I58F possibly damaging Het
Crygs T C 16: 22,624,268 (GRCm39) E113G possibly damaging Het
Dnmt3b C T 2: 153,512,235 (GRCm39) R319* probably null Het
Eif3a A G 19: 60,758,366 (GRCm39) I804T unknown Het
Eif3a A T 19: 60,766,424 (GRCm39) H301Q probably benign Het
Elf3 A T 1: 135,184,478 (GRCm39) probably benign Het
Fads2b C A 2: 85,348,990 (GRCm39) G41* probably null Het
Gm10384 A G 15: 36,872,017 (GRCm39) noncoding transcript Het
Gm11627 T A 11: 102,469,657 (GRCm39) probably benign Het
Gpr183 A T 14: 122,192,261 (GRCm39) Y87N probably damaging Het
Gpr183 G C 14: 122,192,262 (GRCm39) Y86* probably null Het
Gpr26 T C 7: 131,568,709 (GRCm39) V18A probably damaging Het
Herc1 T A 9: 66,340,996 (GRCm39) probably null Het
Hint2 C T 4: 43,656,396 (GRCm39) probably benign Het
Jag1 A T 2: 136,927,899 (GRCm39) D837E probably damaging Het
Jmjd1c C A 10: 66,993,753 (GRCm39) S78* probably null Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Lalba T C 15: 98,380,549 (GRCm39) M2V probably benign Het
Lama1 T A 17: 68,101,295 (GRCm39) D1929E probably benign Het
Macf1 T C 4: 123,367,432 (GRCm39) K878R possibly damaging Het
Mboat4 T C 8: 34,591,108 (GRCm39) S182P probably damaging Het
Muc5b A T 7: 141,411,721 (GRCm39) T1556S unknown Het
Myo1g T C 11: 6,469,047 (GRCm39) Y85C probably damaging Het
Ncapd2 C A 6: 125,156,196 (GRCm39) probably null Het
Nox3 T C 17: 3,744,257 (GRCm39) D96G possibly damaging Het
Or10a48 T C 7: 108,424,802 (GRCm39) M135V probably damaging Het
Or1e17 T C 11: 73,831,822 (GRCm39) L250P probably damaging Het
Or6c212 A G 10: 129,559,350 (GRCm39) L21P probably damaging Het
Pacs1 C T 19: 5,206,384 (GRCm39) probably null Het
Pgap4 C G 4: 49,586,254 (GRCm39) V305L probably benign Het
Pgm5 C A 19: 24,812,110 (GRCm39) G141* probably null Het
Pik3r4 A G 9: 105,532,098 (GRCm39) M557V probably benign Het
Pld4 T A 12: 112,731,498 (GRCm39) V217D probably damaging Het
Pphln1-ps1 T C 16: 13,495,278 (GRCm39) S126P probably damaging Het
Ppp1r3c T C 19: 36,710,915 (GRCm39) E285G probably benign Het
Pradc1 T A 6: 85,424,275 (GRCm39) M24L possibly damaging Het
Prepl T C 17: 85,390,659 (GRCm39) T100A probably benign Het
Rmi2 C T 16: 10,704,073 (GRCm39) T138I probably benign Het
Rtkn A T 6: 83,129,163 (GRCm39) K540* probably null Het
Sag C A 1: 87,762,340 (GRCm39) T335K probably damaging Het
Setd4 A G 16: 93,388,114 (GRCm39) L124P probably benign Het
Sh3gl2 A G 4: 85,297,646 (GRCm39) D208G probably damaging Het
Sult4a1 T C 15: 83,989,779 (GRCm39) T8A possibly damaging Het
Tert A G 13: 73,797,110 (GRCm39) D1116G probably damaging Het
Tlr4 A G 4: 66,757,477 (GRCm39) E90G probably benign Het
Tmem123 T C 9: 7,791,393 (GRCm39) L164P probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Trak1 G A 9: 121,283,491 (GRCm39) R419Q probably benign Het
Trp53bp1 G T 2: 121,038,368 (GRCm39) A1490D probably damaging Het
Ttc16 T C 2: 32,665,389 (GRCm39) probably benign Het
Tyw5 T A 1: 57,427,686 (GRCm39) Q306L probably damaging Het
Ube2j2 T A 4: 156,039,715 (GRCm39) I14N probably damaging Het
Vmn2r103 T C 17: 20,013,958 (GRCm39) I250T probably benign Het
Zar1 A G 5: 72,738,249 (GRCm39) V51A probably benign Het
Zbtb38 T G 9: 96,570,904 (GRCm39) N60T probably damaging Het
Zfp354a T C 11: 50,961,045 (GRCm39) S417P probably damaging Het
Zfp410 A T 12: 84,372,510 (GRCm39) D112V probably damaging Het
Zfp64 T C 2: 168,768,463 (GRCm39) N383S possibly damaging Het
Zfp687 A T 3: 94,919,799 (GRCm39) probably null 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
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
Predicted Primers PCR Primer
(F):5'- GAATGGTGATAAGCCCGTCG -3'
(R):5'- ATGCAGGTGGAGCTGCTTTC -3'

Sequencing Primer
(F):5'- TGATAAGCCCGTCGAATCAGAGTC -3'
(R):5'- GGTGGAGCTGCTTTCACAAAATC -3'
Posted On 2015-10-08