Incidental Mutation 'IGL01341:Zcchc8'
ID 74860
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

Genbank: NM_027494; MGI: 1917900

Is this an essential gene? Possibly non essential (E-score: 0.379) question?
Stock # IGL01341
Quality Score
Status
Chromosome 5
Chromosomal Location 123698294-123721100 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 123704569 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 367 (V367A)
Ref Sequence ENSEMBL: ENSMUSP00000142363 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031376] [ENSMUST00000196282]
AlphaFold Q9CYA6
Predicted Effect probably benign
Transcript: ENSMUST00000031376
AA Change: V367A

PolyPhen 2 Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000031376
Gene: ENSMUSG00000029427
AA Change: V367A

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 noncoding transcript
Transcript: ENSMUST00000196042
Predicted Effect probably benign
Transcript: ENSMUST00000196282
AA Change: V367A

PolyPhen 2 Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000142363
Gene: ENSMUSG00000029427
AA Change: V367A

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 noncoding transcript
Transcript: ENSMUST00000199875
Predicted Effect probably benign
Transcript: ENSMUST00000200161
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(12) : Gene trapped(12)

Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T A 19: 9,011,703 H3450Q probably benign Het
Arcn1 A G 9: 44,757,192 I249T possibly damaging Het
Arhgef5 G A 6: 43,283,991 R1450H probably damaging Het
Cdh26 A T 2: 178,457,447 D113V probably damaging Het
Cnot4 A G 6: 35,070,254 V141A probably damaging Het
Cox6a1 C A 5: 115,345,839 probably benign Het
Ctsll3 C T 13: 60,798,999 D269N probably benign Het
Dnttip2 T C 3: 122,276,612 I492T probably damaging Het
Gimap8 A G 6: 48,658,767 S489G probably damaging Het
Glra2 T C X: 165,324,566 D46G probably damaging Het
Gm7094 A G 1: 21,272,883 noncoding transcript Het
Gmps T C 3: 64,015,440 I608T probably damaging Het
Gzma A G 13: 113,093,884 probably benign Het
H2-Q4 T A 17: 35,383,002 V280E probably damaging Het
Jak1 C T 4: 101,175,093 G439S probably damaging Het
Kars T C 8: 111,994,974 I556V probably benign Het
Kifc2 T C 15: 76,662,898 probably null Het
Kit T C 5: 75,607,074 I39T probably damaging Het
Map3k6 G T 4: 133,248,060 R702L possibly damaging Het
Marveld3 T A 8: 109,948,417 T256S possibly damaging Het
Nkd1 G A 8: 88,591,552 probably benign Het
Olfr1109 T A 2: 87,093,299 I33L probably benign Het
Olfr805 G A 10: 129,722,878 T222I possibly damaging Het
Pax2 A G 19: 44,790,688 S167G probably damaging Het
Pdlim3 T A 8: 45,915,240 D258E probably benign Het
Ppip5k1 A T 2: 121,343,210 C393* probably null Het
Pxdn T C 12: 30,002,487 S888P probably damaging Het
Relb T C 7: 19,616,373 I218V probably benign Het
Reln T A 5: 21,969,079 I2009F probably damaging Het
Sec23b T C 2: 144,585,733 S627P probably benign Het
Slc2a8 T A 2: 32,975,991 Q39L probably damaging Het
Tmem143 T C 7: 45,916,134 Y340H probably damaging Het
Ttn A G 2: 76,730,319 V29246A probably damaging Het
Wdr81 T C 11: 75,445,601 D1654G probably damaging Het
Zbtb11 T G 16: 55,990,931 L484R possibly damaging Het
Other mutations in Zcchc8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01536:Zcchc8 APN 5 123720719 critical splice donor site probably null
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
R8738:Zcchc8 UTSW 5 123703007 missense probably damaging 0.99
R8791:Zcchc8 UTSW 5 123707299 missense probably benign 0.06
Posted On 2013-10-07