Incidental Mutation 'R2389:Zcchc17'
ID 247730
Institutional Source Beutler Lab
Gene Symbol Zcchc17
Ensembl Gene ENSMUSG00000028772
Gene Name zinc finger, CCHC domain containing 17
Synonyms Ps1d, 2810055E05Rik, HSPC251
Accession Numbers
Essential gene? Probably essential (E-score: 0.793) question?
Stock # R2389 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 130209176-130253736 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 130220997 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 185 (K185*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000134159]
AlphaFold Q9ESX4
Predicted Effect probably null
Transcript: ENSMUST00000134159
AA Change: K185*
SMART Domains Protein: ENSMUSP00000120807
Gene: ENSMUSG00000028772
AA Change: K185*

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 probably null
Transcript: ENSMUST00000167964
AA Change: K185*
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.8%
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr5 T C 2: 158,467,132 (GRCm39) V24A probably benign Het
Adrm1 C A 2: 179,816,116 (GRCm39) probably benign Het
Cdk13 T A 13: 17,926,361 (GRCm39) H813L probably damaging Het
Cdkal1 T A 13: 29,736,219 (GRCm39) H300L probably damaging Het
Cnksr1 T C 4: 133,961,057 (GRCm39) I235V probably benign Het
Ctnnd1 T A 2: 84,454,615 (GRCm39) Q11L probably null Het
Dync2h1 T C 9: 7,122,618 (GRCm39) I2113V possibly damaging Het
Eng T C 2: 32,547,684 (GRCm39) probably null Het
Gria2 A G 3: 80,609,932 (GRCm39) W626R probably damaging Het
Kctd1 A G 18: 15,195,268 (GRCm39) S452P possibly damaging Het
Kdm4c T C 4: 74,252,107 (GRCm39) probably null Het
Kntc1 C T 5: 123,919,255 (GRCm39) L845F probably damaging Het
Lmf1 G A 17: 25,873,445 (GRCm39) V317M probably damaging Het
Nat8f7 C A 6: 85,684,476 (GRCm39) M121I probably benign Het
Ppfibp1 A T 6: 146,923,669 (GRCm39) H667L probably damaging Het
Pramel31 T A 4: 144,089,983 (GRCm39) L341H probably damaging Het
Prss12 A G 3: 123,280,670 (GRCm39) N452D possibly damaging Het
Rab17 T C 1: 90,891,926 (GRCm39) T33A probably benign Het
Rxfp3 A G 15: 11,036,770 (GRCm39) C201R probably damaging Het
Spag17 A G 3: 100,014,153 (GRCm39) Y2142C probably benign Het
Stx6 T C 1: 155,073,164 (GRCm39) V225A possibly damaging Het
Ugt2b5 G A 5: 87,275,541 (GRCm39) P437S probably damaging Het
Usp13 A G 3: 32,959,613 (GRCm39) K568R probably benign Het
Zan A G 5: 137,474,642 (GRCm39) probably null Het
Zbtb8b T C 4: 129,327,066 (GRCm39) E33G probably benign 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
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
R5553:Zcchc17 UTSW 4 130,247,927 (GRCm39) critical splice donor site probably null
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'- CTCTGAAAAGATAAGGAGGGCTTGC -3'
(R):5'- AATGTTTTGACTTGGAGGGCCC -3'

Sequencing Primer
(F):5'- TTATAGACCAGGTTGGCCTCGAAC -3'
(R):5'- AGGAGAGTGGCTTCTTCCCTC -3'
Posted On 2014-11-11