Incidental Mutation 'R5553:Zcchc17'
ID 435215
Institutional Source Beutler Lab
Gene Symbol Zcchc17
Ensembl Gene ENSMUSG00000028772
Gene Name zinc finger, CCHC domain containing 17
Synonyms Ps1d, 2810055E05Rik, HSPC251
MMRRC Submission 043110-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.793) question?
Stock # R5553 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 130209176-130253736 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 130247927 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120807 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000134159]
AlphaFold Q9ESX4
Predicted Effect probably null
Transcript: ENSMUST00000134159
SMART Domains Protein: ENSMUSP00000120807
Gene: ENSMUSG00000028772

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: ENSMUST00000167964
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T A 15: 60,792,690 (GRCm39) I86F probably damaging Het
Abca13 C T 11: 9,278,158 (GRCm39) L3113F probably damaging Het
Ankrd39 C T 1: 36,581,062 (GRCm39) G96R probably damaging Het
Ano8 T A 8: 71,937,641 (GRCm39) probably null Het
Arid1b A T 17: 5,364,152 (GRCm39) S1041C probably damaging Het
Bsn T A 9: 107,987,620 (GRCm39) probably benign Het
Cbr3 A G 16: 93,480,451 (GRCm39) E80G possibly damaging Het
Chd1 A G 17: 17,605,875 (GRCm39) E271G probably benign Het
Dock3 T A 9: 106,868,309 (GRCm39) K658N possibly damaging Het
Dot1l CCAGCCCCACCCTCAGCC CCAGCC 10: 80,619,462 (GRCm39) probably benign Het
Dppa1 T A 11: 46,503,861 (GRCm39) probably null Het
Fen1 T C 19: 10,177,787 (GRCm39) N219S probably benign Het
Fsip2 A G 2: 82,793,090 (GRCm39) T416A probably benign Het
Gm14393 A T 2: 174,903,639 (GRCm39) C89* probably null Het
Grin2c C T 11: 115,143,551 (GRCm39) M736I probably null Het
Heatr5b A T 17: 79,060,780 (GRCm39) probably null Het
Hspbap1 G T 16: 35,621,967 (GRCm39) W104L probably damaging Het
Igfn1 C T 1: 135,895,622 (GRCm39) G1648E probably damaging Het
Irf4 A G 13: 30,935,811 (GRCm39) Y122C probably damaging Het
Kremen2 A G 17: 23,960,776 (GRCm39) probably benign Het
Niban1 C T 1: 151,592,986 (GRCm39) T557M probably damaging Het
Nubpl T A 12: 52,228,082 (GRCm39) L169M possibly damaging Het
Nwd1 T C 8: 73,431,604 (GRCm39) S1200P possibly damaging Het
Or1j20 A G 2: 36,760,477 (GRCm39) I300V probably benign Het
Or5p61 A T 7: 107,758,478 (GRCm39) S201T probably benign Het
Parp14 G T 16: 35,677,306 (GRCm39) H887Q probably benign Het
Paxip1 G A 5: 27,980,637 (GRCm39) probably benign Het
Piwil1 T C 5: 128,822,565 (GRCm39) M392T probably benign Het
Plekhm3 T C 1: 64,961,045 (GRCm39) S404G possibly damaging Het
Prelid3a T C 18: 67,610,093 (GRCm39) L141P probably damaging Het
Ptprb T A 10: 116,186,090 (GRCm39) V1715E probably damaging Het
Rc3h2 G A 2: 37,288,323 (GRCm39) R420* probably null Het
Selenon C A 4: 134,268,228 (GRCm39) R435L probably damaging Het
Slc29a4 T C 5: 142,705,791 (GRCm39) L425P probably damaging Het
Slc30a9 T A 5: 67,502,947 (GRCm39) probably null Het
Slc9a5 T C 8: 106,083,672 (GRCm39) V404A probably damaging Het
Ssc5d A T 7: 4,939,289 (GRCm39) D575V probably damaging Het
Ttn A C 2: 76,721,940 (GRCm39) probably null Het
Vmn2r100 A G 17: 19,725,110 (GRCm39) Q13R possibly damaging Het
Wfikkn1 T A 17: 26,097,468 (GRCm39) L285F possibly damaging Het
Other mutations in Zcchc17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01462:Zcchc17 APN 4 130,230,902 (GRCm39) missense probably benign 0.01
IGL02086:Zcchc17 APN 4 130,210,440 (GRCm39) makesense probably null
IGL02277:Zcchc17 APN 4 130,221,014 (GRCm39) missense probably benign 0.15
IGL02395:Zcchc17 APN 4 130,230,920 (GRCm39) missense probably damaging 1.00
IGL02407:Zcchc17 APN 4 130,243,108 (GRCm39) missense probably benign
R0105:Zcchc17 UTSW 4 130,243,099 (GRCm39) missense probably benign 0.36
R0105:Zcchc17 UTSW 4 130,243,099 (GRCm39) missense probably benign 0.36
R0245:Zcchc17 UTSW 4 130,230,947 (GRCm39) missense probably benign
R1026:Zcchc17 UTSW 4 130,223,403 (GRCm39) missense possibly damaging 0.95
R1764:Zcchc17 UTSW 4 130,223,388 (GRCm39) missense probably damaging 0.97
R2162:Zcchc17 UTSW 4 130,232,317 (GRCm39) missense probably benign 0.04
R2389:Zcchc17 UTSW 4 130,220,997 (GRCm39) nonsense probably null
R3831:Zcchc17 UTSW 4 130,232,317 (GRCm39) missense probably benign 0.04
R4078:Zcchc17 UTSW 4 130,223,418 (GRCm39) missense possibly damaging 0.65
R7233:Zcchc17 UTSW 4 130,221,116 (GRCm39) missense probably damaging 0.98
R7728:Zcchc17 UTSW 4 130,230,812 (GRCm39) splice site probably null
R8384:Zcchc17 UTSW 4 130,210,526 (GRCm39) missense possibly damaging 0.91
R9227:Zcchc17 UTSW 4 130,230,928 (GRCm39) missense probably damaging 1.00
R9343:Zcchc17 UTSW 4 130,210,546 (GRCm39) missense probably damaging 0.99
R9514:Zcchc17 UTSW 4 130,232,337 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGACTGGTAAAGAGACCCATTTTG -3'
(R):5'- ACTGCGCCTGGATTTGTATG -3'

Sequencing Primer
(F):5'- GAGTTCACAGAGGTCTGT -3'
(R):5'- TCATGCTTACACAGTAGGCG -3'
Posted On 2016-10-24