Incidental Mutation 'IGL00587:Zcchc4'
ID6432
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zcchc4
Ensembl Gene ENSMUSG00000029179
Gene Namezinc finger, CCHC domain containing 4
Synonyms4930449I23Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.118) question?
Stock #IGL00587
Quality Score
Status
Chromosome5
Chromosomal Location52775409-52824665 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 52816169 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 379 (S379T)
Ref Sequence ENSEMBL: ENSMUSP00000109537 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031077] [ENSMUST00000113904]
Predicted Effect probably benign
Transcript: ENSMUST00000031077
AA Change: S379T

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000031077
Gene: ENSMUSG00000029179
AA Change: S379T

DomainStartEndE-ValueType
Pfam:zf-GRF 37 81 2.9e-19 PFAM
Pfam:N6-adenineMlase 168 337 5.1e-11 PFAM
ZnF_C2HC 442 458 1.27e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000113901
SMART Domains Protein: ENSMUSP00000109534
Gene: ENSMUSG00000029179

DomainStartEndE-ValueType
ZnF_C2HC 226 242 1.27e-2 SMART
low complexity region 248 266 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113904
AA Change: S379T

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000109537
Gene: ENSMUSG00000029179
AA Change: S379T

DomainStartEndE-ValueType
Pfam:zf-GRF 37 81 2.4e-17 PFAM
Pfam:N6-adenineMlase 168 338 7.1e-11 PFAM
ZnF_C2HC 442 458 1.27e-2 SMART
low complexity region 464 482 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143745
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149612
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amigo2 A C 15: 97,245,446 M365R possibly damaging Het
Atat1 T C 17: 35,897,883 D352G probably benign Het
Bbs12 A G 3: 37,320,197 T265A probably damaging Het
Cd300c A T 11: 114,959,790 N62K probably benign Het
Cdk5rap3 A G 11: 96,913,399 S43P probably damaging Het
Chchd6 A T 6: 89,569,417 probably null Het
Cr2 C T 1: 195,154,251 R868Q possibly damaging Het
Cyp2d9 T C 15: 82,455,143 S126P possibly damaging Het
Dsg3 T A 18: 20,539,654 I794N probably damaging Het
Fga A T 3: 83,030,289 S158C possibly damaging Het
Gm14240 T C 2: 156,052,950 probably null Het
Itga1 C A 13: 115,012,249 V279L probably damaging Het
Kdm1b T C 13: 47,068,540 V485A probably benign Het
Mfap3l T C 8: 60,671,909 V395A probably benign Het
Nlrp14 T A 7: 107,181,767 V57E probably benign Het
P2ry12 A T 3: 59,217,882 I124K probably damaging Het
Paxip1 A G 5: 27,772,552 probably benign Het
Prkdc T C 16: 15,652,358 probably benign Het
Rab28 T C 5: 41,703,456 R52G probably benign Het
Rrp15 T C 1: 186,721,548 probably null Het
Sel1l2 G A 2: 140,243,944 L539F possibly damaging Het
Ticam2 T C 18: 46,560,813 E69G probably benign Het
Zcchc2 T A 1: 106,030,263 S821R probably benign Het
Zfp53 T C 17: 21,508,338 V211A probably benign Het
Zmym2 T G 14: 56,903,360 S219A possibly damaging Het
Other mutations in Zcchc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00953:Zcchc4 APN 5 52808296 missense probably damaging 1.00
IGL01860:Zcchc4 APN 5 52808356 missense probably damaging 1.00
IGL02248:Zcchc4 APN 5 52796076 missense probably damaging 1.00
IGL02536:Zcchc4 APN 5 52808316 missense probably damaging 1.00
R0060:Zcchc4 UTSW 5 52807078 missense possibly damaging 0.67
R0060:Zcchc4 UTSW 5 52807078 missense possibly damaging 0.67
R0573:Zcchc4 UTSW 5 52795979 missense probably damaging 1.00
R0634:Zcchc4 UTSW 5 52783208 missense probably benign 0.15
R1353:Zcchc4 UTSW 5 52807077 missense probably benign 0.03
R1791:Zcchc4 UTSW 5 52796590 missense probably damaging 1.00
R1854:Zcchc4 UTSW 5 52815826 missense probably damaging 1.00
R2108:Zcchc4 UTSW 5 52796132 missense probably damaging 0.99
R2696:Zcchc4 UTSW 5 52796231 missense probably damaging 1.00
R2991:Zcchc4 UTSW 5 52804438 missense probably damaging 1.00
R3894:Zcchc4 UTSW 5 52784100 missense probably damaging 1.00
R4523:Zcchc4 UTSW 5 52784067 missense probably damaging 1.00
R4672:Zcchc4 UTSW 5 52796605 missense probably benign 0.00
R4772:Zcchc4 UTSW 5 52796207 missense possibly damaging 0.83
R4905:Zcchc4 UTSW 5 52796650 missense probably damaging 1.00
R4954:Zcchc4 UTSW 5 52819217 missense probably damaging 1.00
R5093:Zcchc4 UTSW 5 52796610 missense probably benign 0.38
R5371:Zcchc4 UTSW 5 52785170 missense probably benign 0.19
R5401:Zcchc4 UTSW 5 52807077 missense probably benign 0.03
R5755:Zcchc4 UTSW 5 52816169 missense probably benign 0.00
R6110:Zcchc4 UTSW 5 52796144 missense possibly damaging 0.95
R6244:Zcchc4 UTSW 5 52783161 missense probably benign 0.00
R6465:Zcchc4 UTSW 5 52819276 missense probably benign 0.03
R6906:Zcchc4 UTSW 5 52823634 missense possibly damaging 0.66
R7019:Zcchc4 UTSW 5 52784033 missense probably benign 0.00
R7363:Zcchc4 UTSW 5 52785168 missense possibly damaging 0.88
Posted On2012-04-20