Incidental Mutation 'IGL02838:Zcchc8'
ID 361753
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zcchc8
Ensembl Gene ENSMUSG00000029427
Gene Name zinc finger, CCHC domain containing 8
Synonyms 5730565F05Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.328) question?
Stock # IGL02838
Quality Score
Status
Chromosome 5
Chromosomal Location 123836365-123859107 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 123857546 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031376] [ENSMUST00000196282] [ENSMUST00000200503]
AlphaFold Q9CYA6
Predicted Effect probably benign
Transcript: ENSMUST00000031376
SMART Domains Protein: ENSMUSP00000031376
Gene: ENSMUSG00000029427

DomainStartEndE-ValueType
low complexity region 33 44 N/A INTRINSIC
coiled coil region 48 83 N/A INTRINSIC
ZnF_C2HC 231 247 4.13e-3 SMART
PSP 286 338 3.04e-27 SMART
low complexity region 410 434 N/A INTRINSIC
low complexity region 464 500 N/A INTRINSIC
low complexity region 520 527 N/A INTRINSIC
low complexity region 613 625 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000196001
Predicted Effect probably benign
Transcript: ENSMUST00000196282
SMART Domains Protein: ENSMUSP00000142363
Gene: ENSMUSG00000029427

DomainStartEndE-ValueType
low complexity region 33 44 N/A INTRINSIC
coiled coil region 48 83 N/A INTRINSIC
ZnF_C2HC 231 247 4.13e-3 SMART
PSP 286 338 3.04e-27 SMART
low complexity region 410 434 N/A INTRINSIC
low complexity region 464 500 N/A INTRINSIC
low complexity region 520 527 N/A INTRINSIC
low complexity region 613 625 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000196333
Predicted Effect probably benign
Transcript: ENSMUST00000198826
Predicted Effect probably benign
Transcript: ENSMUST00000200503
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(12) : Gene trapped(12)

Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl4a T C 12: 40,086,303 (GRCm39) E148G probably benign Het
AW551984 A T 9: 39,505,939 (GRCm39) F419L probably damaging Het
Brpf3 G A 17: 29,054,758 (GRCm39) R1100Q probably benign Het
Cacna1e A G 1: 154,321,394 (GRCm39) C1222R probably damaging Het
Cacna2d3 T A 14: 29,022,785 (GRCm39) probably null Het
Ccdc146 T A 5: 21,502,567 (GRCm39) M775L probably benign Het
Ccdc60 A G 5: 116,272,169 (GRCm39) S422P probably damaging Het
Cdh10 A T 15: 18,899,849 (GRCm39) N59Y probably damaging Het
Cfap61 T A 2: 145,789,084 (GRCm39) C29* probably null Het
Fgd5 T A 6: 91,964,655 (GRCm39) M138K probably benign Het
Gpr107 G A 2: 31,104,329 (GRCm39) G545S probably benign Het
Greb1l G A 18: 10,560,430 (GRCm39) A1897T probably damaging Het
Hcls1 A G 16: 36,782,781 (GRCm39) D439G probably damaging Het
Iars1 T A 13: 49,843,965 (GRCm39) N146K possibly damaging Het
Itga5 C T 15: 103,260,036 (GRCm39) A619T probably damaging Het
Maml3 A G 3: 51,597,511 (GRCm39) F412L probably damaging Het
Mis18bp1 T C 12: 65,183,600 (GRCm39) Y924C probably damaging Het
Mtss1 T C 15: 58,953,364 (GRCm39) I5V probably benign Het
Ninl A T 2: 150,797,631 (GRCm39) probably null Het
Nrn1 C A 13: 36,914,080 (GRCm39) probably null Het
Nts C T 10: 102,318,290 (GRCm39) V138M probably damaging Het
Or4q3 A G 14: 50,583,312 (GRCm39) S165P probably damaging Het
Or5b116 T A 19: 13,423,299 (GRCm39) S308T probably benign Het
Pard3 A G 8: 128,153,128 (GRCm39) R900G probably damaging Het
Rbfa T C 18: 80,236,050 (GRCm39) H233R probably benign Het
Rundc3a T A 11: 102,288,521 (GRCm39) probably benign Het
Setdb1 G T 3: 95,244,579 (GRCm39) probably null Het
Synpo T A 18: 60,736,872 (GRCm39) N358I probably damaging Het
Tnxb A T 17: 34,908,606 (GRCm39) T1543S possibly damaging Het
Ugt1a8 T A 1: 88,016,399 (GRCm39) Y271N probably benign Het
Vmn2r105 A C 17: 20,447,847 (GRCm39) F326V probably damaging Het
Vps13c G A 9: 67,883,133 (GRCm39) R3560H probably damaging Het
Vps13d C T 4: 144,801,595 (GRCm39) R3510Q probably benign Het
Other mutations in Zcchc8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01341:Zcchc8 APN 5 123,842,632 (GRCm39) missense probably benign 0.43
IGL01536:Zcchc8 APN 5 123,858,782 (GRCm39) critical splice donor site probably null
IGL02083:Zcchc8 APN 5 123,838,981 (GRCm39) missense probably damaging 1.00
3-1:Zcchc8 UTSW 5 123,847,544 (GRCm39) missense probably damaging 1.00
PIT4515001:Zcchc8 UTSW 5 123,838,995 (GRCm39) missense probably benign 0.23
R0127:Zcchc8 UTSW 5 123,845,400 (GRCm39) missense probably damaging 1.00
R1134:Zcchc8 UTSW 5 123,855,090 (GRCm39) missense probably damaging 1.00
R1604:Zcchc8 UTSW 5 123,838,721 (GRCm39) missense probably benign 0.00
R1744:Zcchc8 UTSW 5 123,838,436 (GRCm39) nonsense probably null
R2216:Zcchc8 UTSW 5 123,845,466 (GRCm39) missense probably damaging 1.00
R2303:Zcchc8 UTSW 5 123,838,660 (GRCm39) missense probably benign 0.00
R2877:Zcchc8 UTSW 5 123,838,766 (GRCm39) missense probably benign 0.05
R2964:Zcchc8 UTSW 5 123,858,930 (GRCm39) missense probably benign 0.00
R2966:Zcchc8 UTSW 5 123,858,930 (GRCm39) missense probably benign 0.00
R6831:Zcchc8 UTSW 5 123,838,972 (GRCm39) missense probably damaging 1.00
R7908:Zcchc8 UTSW 5 123,858,783 (GRCm39) critical splice donor site probably benign
R8738:Zcchc8 UTSW 5 123,841,070 (GRCm39) missense probably damaging 0.99
R8791:Zcchc8 UTSW 5 123,845,362 (GRCm39) missense probably benign 0.06
R9487:Zcchc8 UTSW 5 123,847,300 (GRCm39) missense probably damaging 0.99
R9495:Zcchc8 UTSW 5 123,838,633 (GRCm39) missense probably benign 0.00
R9508:Zcchc8 UTSW 5 123,842,584 (GRCm39) critical splice donor site probably null
Posted On 2015-12-18