Incidental Mutation 'R2341:Zfp110'
ID 246750
Institutional Source Beutler Lab
Gene Symbol Zfp110
Ensembl Gene ENSMUSG00000058638
Gene Name zinc finger protein 110
Synonyms Nrif1, 2900024E01Rik, NRIF
MMRRC Submission 040327-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.698) question?
Stock # R2341 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 12568688-12584504 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 12583113 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 587 (V587A)
Ref Sequence ENSEMBL: ENSMUSP00000132060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004614] [ENSMUST00000168247]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000004614
AA Change: V587A

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000004614
Gene: ENSMUSG00000058638
AA Change: V587A

DomainStartEndE-ValueType
KRAB 18 78 1.38e-26 SMART
SCAN 158 269 1.48e-39 SMART
KRAB 284 351 2.94e-12 SMART
low complexity region 424 438 N/A INTRINSIC
ZnF_C2H2 688 710 1.43e-1 SMART
ZnF_C2H2 716 738 2.24e-3 SMART
ZnF_C2H2 744 766 2.27e-4 SMART
ZnF_C2H2 772 794 6.32e-3 SMART
ZnF_C2H2 800 822 2.75e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137718
Predicted Effect probably benign
Transcript: ENSMUST00000168247
AA Change: V587A

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000132060
Gene: ENSMUSG00000058638
AA Change: V587A

DomainStartEndE-ValueType
KRAB 18 78 1.38e-26 SMART
SCAN 158 269 1.48e-39 SMART
KRAB 284 351 2.94e-12 SMART
low complexity region 424 438 N/A INTRINSIC
ZnF_C2H2 688 710 1.43e-1 SMART
ZnF_C2H2 716 738 2.24e-3 SMART
ZnF_C2H2 744 766 2.27e-4 SMART
ZnF_C2H2 772 794 6.32e-3 SMART
ZnF_C2H2 800 822 2.75e-3 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 97% (36/37)
MGI Phenotype PHENOTYPE: Homozygous mutants on a C57BL/6 background die at embryonic day 12. On a strain 129 background, mutants are viable and fertile, but males are more docile and testis weight is greatly reduced. On an F2 background, 20% of homozygous pups die neonatally. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik A G 15: 59,888,212 (GRCm39) V76A possibly damaging Het
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Anapc4 T C 5: 52,999,279 (GRCm39) probably benign Het
Anxa4 A G 6: 86,720,135 (GRCm39) S144P probably benign Het
Bcr A G 10: 74,966,944 (GRCm39) E517G probably damaging Het
Ccdc57 T C 11: 120,751,349 (GRCm39) E907G probably benign Het
Chd6 TG T 2: 160,807,679 (GRCm39) probably null Het
Dock6 A G 9: 21,750,782 (GRCm39) probably benign Het
Dock8 A G 19: 25,177,757 (GRCm39) K2031E probably damaging Het
Gm5444 T C 13: 4,884,344 (GRCm39) noncoding transcript Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Ifna16 A G 4: 88,594,565 (GRCm39) S177P probably damaging Het
Ino80d T C 1: 63,104,985 (GRCm39) N364D possibly damaging Het
Ltbp2 T C 12: 84,855,937 (GRCm39) T769A probably benign Het
Ms4a20 T A 19: 11,083,157 (GRCm39) M88L probably benign Het
Mug1 T C 6: 121,861,588 (GRCm39) V1350A probably benign Het
Nedd9 A G 13: 41,469,987 (GRCm39) S389P probably damaging Het
Or10ag57 A T 2: 87,218,084 (GRCm39) I12F probably benign Het
Or4c11b A G 2: 88,624,989 (GRCm39) N88D probably benign Het
Or8h8 T C 2: 86,752,982 (GRCm39) K298R possibly damaging Het
Pole A T 5: 110,478,829 (GRCm39) I28F possibly damaging Het
Prkce C A 17: 86,781,870 (GRCm39) P180T probably damaging Het
Ralgapa1 T C 12: 55,723,909 (GRCm39) H1995R possibly damaging Het
Rnf144b A G 13: 47,373,976 (GRCm39) K58E probably benign Het
Rnf43 A G 11: 87,622,851 (GRCm39) R651G probably damaging Het
Scel A T 14: 103,845,606 (GRCm39) L580F possibly damaging Het
Scn4b G A 9: 45,059,127 (GRCm39) V133M probably damaging Het
Sipa1l3 T C 7: 29,077,060 (GRCm39) N904S probably damaging Het
Sun5 A G 2: 153,709,422 (GRCm39) probably benign Het
Tanc2 T C 11: 105,725,877 (GRCm39) V347A probably benign Het
Tmem245 T C 4: 56,937,957 (GRCm39) Y197C probably damaging Het
Usp30 C T 5: 114,249,241 (GRCm39) R182* probably null Het
Vmn2r112 T A 17: 22,822,096 (GRCm39) V258E probably damaging Het
Vps35 T C 8: 86,001,443 (GRCm39) probably benign Het
Xkr7 G A 2: 152,896,318 (GRCm39) V391M possibly damaging Het
Ythdf3 A T 3: 16,257,379 (GRCm39) probably benign Het
Other mutations in Zfp110
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00705:Zfp110 APN 7 12,583,086 (GRCm39) missense probably benign 0.38
IGL01094:Zfp110 APN 7 12,583,723 (GRCm39) missense probably damaging 1.00
IGL01576:Zfp110 APN 7 12,583,598 (GRCm39) missense probably damaging 1.00
IGL01859:Zfp110 APN 7 12,583,467 (GRCm39) missense possibly damaging 0.86
IGL02003:Zfp110 APN 7 12,583,832 (GRCm39) nonsense probably null
R0122:Zfp110 UTSW 7 12,582,524 (GRCm39) missense possibly damaging 0.51
R0357:Zfp110 UTSW 7 12,570,302 (GRCm39) missense probably damaging 0.98
R0383:Zfp110 UTSW 7 12,583,187 (GRCm39) missense probably benign 0.00
R0725:Zfp110 UTSW 7 12,570,290 (GRCm39) missense possibly damaging 0.52
R0926:Zfp110 UTSW 7 12,583,808 (GRCm39) nonsense probably null
R1146:Zfp110 UTSW 7 12,580,721 (GRCm39) critical splice acceptor site probably null
R1146:Zfp110 UTSW 7 12,580,721 (GRCm39) critical splice acceptor site probably null
R1472:Zfp110 UTSW 7 12,582,468 (GRCm39) missense possibly damaging 0.85
R1663:Zfp110 UTSW 7 12,582,569 (GRCm39) missense probably benign 0.08
R1975:Zfp110 UTSW 7 12,582,429 (GRCm39) missense probably benign 0.00
R2046:Zfp110 UTSW 7 12,583,349 (GRCm39) missense probably benign 0.00
R2296:Zfp110 UTSW 7 12,583,467 (GRCm39) missense probably damaging 0.97
R4332:Zfp110 UTSW 7 12,578,498 (GRCm39) nonsense probably null
R5892:Zfp110 UTSW 7 12,582,405 (GRCm39) missense probably benign 0.00
R5955:Zfp110 UTSW 7 12,582,672 (GRCm39) missense possibly damaging 0.85
R6083:Zfp110 UTSW 7 12,578,602 (GRCm39) missense possibly damaging 0.95
R6115:Zfp110 UTSW 7 12,583,701 (GRCm39) missense probably damaging 0.98
R7187:Zfp110 UTSW 7 12,583,753 (GRCm39) nonsense probably null
R7455:Zfp110 UTSW 7 12,581,984 (GRCm39) missense probably benign
R7570:Zfp110 UTSW 7 12,583,267 (GRCm39) missense possibly damaging 0.94
R7727:Zfp110 UTSW 7 12,582,922 (GRCm39) missense possibly damaging 0.91
R7895:Zfp110 UTSW 7 12,571,020 (GRCm39) missense possibly damaging 0.86
R8179:Zfp110 UTSW 7 12,578,498 (GRCm39) nonsense probably null
R8703:Zfp110 UTSW 7 12,582,888 (GRCm39) missense probably benign
R9207:Zfp110 UTSW 7 12,582,485 (GRCm39) missense probably benign 0.33
R9794:Zfp110 UTSW 7 12,578,521 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- CACCAGAAAGGCCCTGAATG -3'
(R):5'- TACAATTGTTGGCTCTCCTGAG -3'

Sequencing Primer
(F):5'- CCCTGAATGGCATAAAGTTGG -3'
(R):5'- CTGAGCCTTCCCACATCAG -3'
Posted On 2014-10-30