Incidental Mutation 'IGL01536:Zcchc8'
ID89981
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zcchc8
Ensembl Gene ENSMUSG00000029427
Gene Namezinc finger, CCHC domain containing 8
Synonyms5730565F05Rik
Accession Numbers

Genbank: NM_027494; MGI: 1917900

Is this an essential gene? Possibly non essential (E-score: 0.272) question?
Stock #IGL01536
Quality Score
Status
Chromosome5
Chromosomal Location123698294-123721100 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to C at 123720719 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000031376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031376] [ENSMUST00000196282] [ENSMUST00000200503]
Predicted Effect probably null
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp5a1 T C 18: 77,780,312 probably benign Het
Ccnc A G 4: 21,732,505 I81V probably benign Het
Cep112 A G 11: 108,531,411 D560G probably null Het
Dis3 A G 14: 99,079,423 Y826H probably damaging Het
Dtx2 A G 5: 136,010,086 probably benign Het
Enpp4 T C 17: 44,099,603 K361E possibly damaging Het
Erap1 A T 13: 74,662,423 K294* probably null Het
Erbb4 T A 1: 68,290,282 Y636F probably benign Het
Fads1 C A 19: 10,194,030 Q342K probably benign Het
Fntb A T 12: 76,920,130 T447S probably benign Het
Hdac4 A G 1: 91,930,146 probably benign Het
Kcnh2 A G 5: 24,326,524 I463T probably damaging Het
Kif13a G T 13: 46,752,289 T726K probably damaging Het
Lcmt1 T C 7: 123,422,743 S275P possibly damaging Het
Lmnb1 T C 18: 56,740,796 S425P probably benign Het
Lrp1b T C 2: 41,110,883 I2224V probably benign Het
Lrrc45 A T 11: 120,715,584 T173S probably benign Het
Muc4 T C 16: 32,763,966 Y2590H possibly damaging Het
Myo18a C T 11: 77,820,851 P676L probably damaging Het
Olfr1023 T C 2: 85,887,600 S267P probably damaging Het
Pcdhb15 T C 18: 37,474,993 M426T probably benign Het
Pik3cd A G 4: 149,652,666 V891A probably damaging Het
Polr1b A G 2: 129,125,555 N956S probably benign Het
Ppil3 T C 1: 58,444,591 M1V probably null Het
Rad1 T A 15: 10,493,200 S238T possibly damaging Het
Shc3 A C 13: 51,516,559 S51A probably damaging Het
Slc9c1 T C 16: 45,589,629 probably null Het
Smg5 A G 3: 88,349,245 K273E possibly damaging Het
Sntg1 C T 1: 8,583,200 probably null Het
Sstr4 T C 2: 148,395,880 L137P probably damaging Het
Taar8b C T 10: 24,091,595 V234I probably benign Het
Tbc1d9 A G 8: 83,260,992 Y860C probably damaging Het
Tll1 A T 8: 64,074,289 S399R probably damaging Het
Tns1 T C 1: 73,919,648 probably benign Het
Trim10 T A 17: 36,877,288 probably null Het
Ttn C T 2: 76,732,351 probably null Het
Usp43 T C 11: 67,855,938 D981G probably benign Het
Vmn2r108 A T 17: 20,463,281 C554S probably damaging Het
Vmn2r112 T A 17: 22,605,155 Y464N probably damaging Het
Vmn2r31 T C 7: 7,384,848 K575E probably damaging Het
Vmn2r50 C T 7: 10,037,683 C697Y probably damaging Het
Other mutations in Zcchc8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01341:Zcchc8 APN 5 123704569 missense probably benign 0.43
IGL02083:Zcchc8 APN 5 123700918 missense probably damaging 1.00
IGL02838:Zcchc8 APN 5 123719483 splice site probably benign
3-1:Zcchc8 UTSW 5 123709481 missense probably damaging 1.00
PIT4515001:Zcchc8 UTSW 5 123700932 missense probably benign 0.23
R0127:Zcchc8 UTSW 5 123707337 missense probably damaging 1.00
R1134:Zcchc8 UTSW 5 123717027 missense probably damaging 1.00
R1604:Zcchc8 UTSW 5 123700658 missense probably benign 0.00
R1744:Zcchc8 UTSW 5 123700373 nonsense probably null
R2216:Zcchc8 UTSW 5 123707403 missense probably damaging 1.00
R2303:Zcchc8 UTSW 5 123700597 missense probably benign 0.00
R2877:Zcchc8 UTSW 5 123700703 missense probably benign 0.05
R2964:Zcchc8 UTSW 5 123720867 missense probably benign 0.00
R2966:Zcchc8 UTSW 5 123720867 missense probably benign 0.00
R6831:Zcchc8 UTSW 5 123700909 missense probably damaging 1.00
R7908:Zcchc8 UTSW 5 123720720 critical splice donor site probably benign
Posted On2013-12-03