Incidental Mutation 'IGL02407:Zcchc17'
ID292129
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zcchc17
Ensembl Gene ENSMUSG00000028772
Gene Namezinc finger, CCHC domain containing 17
SynonymsHSPC251, Ps1d, 2810055E05Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.133) question?
Stock #IGL02407
Quality Score
Status
Chromosome4
Chromosomal Location130315383-130359943 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 130349315 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 25 (M25T)
Ref Sequence ENSEMBL: ENSMUSP00000120807 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000134159]
Predicted Effect probably benign
Transcript: ENSMUST00000134159
AA Change: M25T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000120807
Gene: ENSMUSG00000028772
AA Change: M25T

DomainStartEndE-ValueType
S1 14 86 4.47e-11 SMART
ZnF_C2HC 132 148 4.56e-1 SMART
low complexity region 160 171 N/A INTRINSIC
low complexity region 182 211 N/A INTRINSIC
low complexity region 227 240 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149755
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167964
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Specific KO of the short isoform reduces osteogenic differentiation of mesenchymal stem cells and results in early cellular senescence in the embryonic notochord and forelimb bones. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406P16Rik A T 7: 34,256,484 N393K probably damaging Het
A2m G A 6: 121,668,616 W1040* probably null Het
Adgrv1 C A 13: 81,479,670 A3691S probably damaging Het
Als2cl T A 9: 110,889,227 Y345* probably null Het
Aplp2 A T 9: 31,158,527 Y496* probably null Het
Ash1l T C 3: 89,072,548 V2793A probably damaging Het
Bfsp1 A T 2: 143,826,933 D575E probably benign Het
Ceacam20 G T 7: 19,970,407 V128F probably benign Het
Cers4 A T 8: 4,520,306 K204* probably null Het
Cog1 T C 11: 113,654,026 Y345H probably benign Het
Col14a1 T C 15: 55,448,876 probably benign Het
Col19a1 A T 1: 24,312,372 probably null Het
Ctnnd2 T A 15: 30,966,768 M955K probably damaging Het
Cyp3a16 A T 5: 145,451,842 M275K probably damaging Het
Degs2 T G 12: 108,691,995 T242P probably damaging Het
Elac2 T C 11: 64,999,175 V612A probably benign Het
Elovl6 T A 3: 129,605,084 F45I probably damaging Het
Exoc1 A C 5: 76,545,346 N360H probably damaging Het
Fam221b A T 4: 43,666,309 S101T possibly damaging Het
Glyr1 A G 16: 5,036,948 F89L probably benign Het
Herc4 C A 10: 63,306,424 T668K probably damaging Het
Hibadh C T 6: 52,548,889 V259I possibly damaging Het
Hp1bp3 T A 4: 138,240,672 D397E probably damaging Het
Ift80 G T 3: 68,898,536 D724E probably benign Het
Igkv3-10 T C 6: 70,573,239 probably benign Het
Irf9 G T 14: 55,605,221 A75S possibly damaging Het
Kif13a C T 13: 46,785,293 V76M probably damaging Het
Krt4 T C 15: 101,921,305 I263V probably benign Het
Lgals8 A G 13: 12,454,818 W87R probably benign Het
Mccc2 G A 13: 99,991,308 P96L probably damaging Het
Megf11 A C 9: 64,680,249 D443A probably damaging Het
Nckap5l T C 15: 99,423,127 probably benign Het
Ndor1 A G 2: 25,249,269 V230A probably benign Het
Nif3l1 G T 1: 58,457,797 V294L possibly damaging Het
Olfr1285 T A 2: 111,408,578 noncoding transcript Het
Pcdhb13 T A 18: 37,443,075 Y169N probably damaging Het
Peg3 A G 7: 6,707,636 I1529T probably damaging Het
Piezo2 T A 18: 63,146,844 I219F probably damaging Het
Prpf38a G A 4: 108,567,639 R242W unknown Het
Prrc2a A T 17: 35,160,504 D255E unknown Het
Rapgef6 G T 11: 54,676,355 D1121Y possibly damaging Het
Ryr3 T A 2: 112,754,958 H2761L probably damaging Het
Sel1l A T 12: 91,843,268 probably benign Het
Slc30a9 A G 5: 67,352,722 D539G probably damaging Het
Slc38a9 A G 13: 112,690,243 S172G probably benign Het
Slfn2 C A 11: 83,069,576 T127K probably benign Het
Smurf1 A T 5: 144,884,724 M496K probably damaging Het
Srgap2 A T 1: 131,319,602 V564D probably damaging Het
Stk32a T C 18: 43,297,511 I162T probably benign Het
Tchhl1 A T 3: 93,471,327 N446I possibly damaging Het
Tmem64 T A 4: 15,266,584 H211Q probably damaging Het
Trim3 T C 7: 105,613,011 N586S probably benign Het
Trpm1 A G 7: 64,219,121 E507G probably damaging Het
Tyk2 G T 9: 21,109,227 probably benign Het
Ugt3a2 A T 15: 9,365,230 K310* probably null Het
Unc13a T A 8: 71,648,942 N1022Y probably damaging Het
Vmn1r172 A T 7: 23,659,803 N38Y probably damaging Het
Vmn2r100 A T 17: 19,521,508 I161F probably damaging Het
Zfp563 G A 17: 33,104,821 R130Q probably benign Het
Zhx2 A G 15: 57,823,406 S724G probably benign Het
Other mutations in Zcchc17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01462:Zcchc17 APN 4 130337109 missense probably benign 0.01
IGL02086:Zcchc17 APN 4 130316647 makesense probably null
IGL02277:Zcchc17 APN 4 130327221 missense probably benign 0.15
IGL02395:Zcchc17 APN 4 130337127 missense probably damaging 1.00
R0105:Zcchc17 UTSW 4 130349306 missense probably benign 0.36
R0105:Zcchc17 UTSW 4 130349306 missense probably benign 0.36
R0245:Zcchc17 UTSW 4 130337154 missense probably benign
R1026:Zcchc17 UTSW 4 130329610 missense possibly damaging 0.95
R1764:Zcchc17 UTSW 4 130329595 missense probably damaging 0.97
R2162:Zcchc17 UTSW 4 130338524 missense probably benign 0.04
R2389:Zcchc17 UTSW 4 130327204 nonsense probably null
R3831:Zcchc17 UTSW 4 130338524 missense probably benign 0.04
R4078:Zcchc17 UTSW 4 130329625 missense possibly damaging 0.65
R5553:Zcchc17 UTSW 4 130354134 critical splice donor site probably null
R7233:Zcchc17 UTSW 4 130327323 missense probably damaging 0.98
Posted On2015-04-16