Incidental Mutation 'IGL01094:Zfp110'
ID51510
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp110
Ensembl Gene ENSMUSG00000058638
Gene Namezinc finger protein 110
SynonymsNrif1, NRIF, 2900024E01Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.660) question?
Stock #IGL01094
Quality Score
Status
Chromosome7
Chromosomal Location12834761-12850577 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 12849796 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 790 (H790Q)
Ref Sequence ENSEMBL: ENSMUSP00000132060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004614] [ENSMUST00000168247]
Predicted Effect probably damaging
Transcript: ENSMUST00000004614
AA Change: H790Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000004614
Gene: ENSMUSG00000058638
AA Change: H790Q

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 damaging
Transcript: ENSMUST00000168247
AA Change: H790Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132060
Gene: ENSMUSG00000058638
AA Change: H790Q

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
Coding Region Coverage
Validation Efficiency
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adss A T 1: 177,784,942 H80Q probably damaging Het
Ahi1 A G 10: 20,972,060 N456D probably damaging Het
Alpk2 T G 18: 65,306,602 E573D probably damaging Het
Axin2 G A 11: 108,923,675 V130M probably damaging Het
Cadm4 T C 7: 24,502,759 L341P possibly damaging Het
Col20a1 G A 2: 180,999,766 C625Y probably damaging Het
Col6a3 T G 1: 90,803,933 I1533L possibly damaging Het
Dusp10 A T 1: 184,037,500 probably null Het
Dysf T A 6: 84,194,386 I1837N probably damaging Het
Fbxw19 A G 9: 109,493,546 S119P probably benign Het
Gm10334 A G 6: 41,443,423 V123A possibly damaging Het
Il22ra1 C A 4: 135,751,084 P489T possibly damaging Het
Il7r A T 15: 9,507,999 N412K possibly damaging Het
Kdr A T 5: 75,961,760 Y502N probably benign Het
Med12l T A 3: 59,093,655 L713H probably damaging Het
Nfxl1 A G 5: 72,550,428 probably benign Het
Olfr1242 A G 2: 89,493,838 V158A probably benign Het
Piezo1 T A 8: 122,482,138 E2495D probably damaging Het
Pkhd1l1 T C 15: 44,546,929 F2611L probably benign Het
Pld2 T C 11: 70,541,306 C84R probably damaging Het
Scfd2 G T 5: 74,531,046 P192T possibly damaging Het
Tm4sf19 A G 16: 32,405,954 N40S possibly damaging Het
Tmc2 T C 2: 130,260,166 probably benign Het
Tmem217 T C 17: 29,526,592 R55G probably benign Het
Unc80 A G 1: 66,695,433 D3205G possibly damaging Het
Vps13c A G 9: 67,886,284 N440D probably damaging Het
Wdr35 T C 12: 9,005,838 probably benign Het
Other mutations in Zfp110
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00705:Zfp110 APN 7 12849159 missense probably benign 0.38
IGL01576:Zfp110 APN 7 12849671 missense probably damaging 1.00
IGL01859:Zfp110 APN 7 12849540 missense possibly damaging 0.86
IGL02003:Zfp110 APN 7 12849905 nonsense probably null
R0122:Zfp110 UTSW 7 12848597 missense possibly damaging 0.51
R0357:Zfp110 UTSW 7 12836375 missense probably damaging 0.98
R0383:Zfp110 UTSW 7 12849260 missense probably benign 0.00
R0725:Zfp110 UTSW 7 12836363 missense possibly damaging 0.52
R0926:Zfp110 UTSW 7 12849881 nonsense probably null
R1146:Zfp110 UTSW 7 12846794 critical splice acceptor site probably null
R1146:Zfp110 UTSW 7 12846794 critical splice acceptor site probably null
R1472:Zfp110 UTSW 7 12848541 missense possibly damaging 0.85
R1663:Zfp110 UTSW 7 12848642 missense probably benign 0.08
R1975:Zfp110 UTSW 7 12848502 missense probably benign 0.00
R2046:Zfp110 UTSW 7 12849422 missense probably benign 0.00
R2296:Zfp110 UTSW 7 12849540 missense probably damaging 0.97
R2341:Zfp110 UTSW 7 12849186 missense probably benign 0.04
R4332:Zfp110 UTSW 7 12844571 nonsense probably null
R5892:Zfp110 UTSW 7 12848478 missense probably benign 0.00
R5955:Zfp110 UTSW 7 12848745 missense possibly damaging 0.85
R6083:Zfp110 UTSW 7 12844675 missense possibly damaging 0.95
R6115:Zfp110 UTSW 7 12849774 missense probably damaging 0.98
R7187:Zfp110 UTSW 7 12849826 nonsense probably null
R7455:Zfp110 UTSW 7 12848057 missense probably benign
R7570:Zfp110 UTSW 7 12849340 missense possibly damaging 0.94
R7727:Zfp110 UTSW 7 12848995 missense possibly damaging 0.91
R7895:Zfp110 UTSW 7 12837093 missense possibly damaging 0.86
R7978:Zfp110 UTSW 7 12837093 missense possibly damaging 0.86
Posted On2013-06-21