Incidental Mutation 'IGL01860:Zcchc4'
ID 178272
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zcchc4
Ensembl Gene ENSMUSG00000029179
Gene Name zinc finger, CCHC domain containing 4
Synonyms 4930449I23Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.168) question?
Stock # IGL01860
Quality Score
Status
Chromosome 5
Chromosomal Location 52932751-52982007 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 52965698 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 334 (Y334C)
Ref Sequence ENSEMBL: ENSMUSP00000109537 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031077] [ENSMUST00000113904]
AlphaFold Q8BKW4
Predicted Effect probably damaging
Transcript: ENSMUST00000031077
AA Change: Y334C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031077
Gene: ENSMUSG00000029179
AA Change: Y334C

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 damaging
Transcript: ENSMUST00000113904
AA Change: Y334C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109537
Gene: ENSMUSG00000029179
AA Change: Y334C

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T A 6: 146,853,914 (GRCm39) N248Y possibly damaging Het
Adamts13 G A 2: 26,868,023 (GRCm39) V128M probably damaging Het
Agl A T 3: 116,566,175 (GRCm39) probably benign Het
Arfgef1 A T 1: 10,224,621 (GRCm39) M1405K probably damaging Het
Atp6v1a G T 16: 43,920,319 (GRCm39) L426M probably damaging Het
Calhm6 A G 10: 34,002,561 (GRCm39) V174A probably damaging Het
Cdc123 A G 2: 5,808,752 (GRCm39) probably benign Het
Cept1 A G 3: 106,438,444 (GRCm39) probably benign Het
Cipc T A 12: 87,007,047 (GRCm39) D60E probably damaging Het
Efcab3 T C 11: 104,581,747 (GRCm39) S30P probably benign Het
Exosc3 A G 4: 45,319,659 (GRCm39) I121T probably benign Het
Fbln5 A G 12: 101,776,128 (GRCm39) Y89H probably damaging Het
Fhod3 T C 18: 25,030,738 (GRCm39) F128L probably damaging Het
Fhod3 T A 18: 25,037,005 (GRCm39) I154N probably damaging Het
Fpgt T C 3: 154,792,483 (GRCm39) T515A probably benign Het
Gas2l2 G A 11: 83,312,906 (GRCm39) T802I probably benign Het
Gm10710 T A 3: 83,035,156 (GRCm39) probably benign Het
Hdac4 A G 1: 91,861,417 (GRCm39) M1051T probably benign Het
Heatr5b A G 17: 79,115,909 (GRCm39) V849A probably damaging Het
Helb T C 10: 119,938,738 (GRCm39) I579V probably damaging Het
Hspa1l A G 17: 35,197,787 (GRCm39) I609V probably benign Het
Itgam C A 7: 127,670,115 (GRCm39) Q136K probably benign Het
Kcnc1 T C 7: 46,077,554 (GRCm39) L452P probably damaging Het
Ltbp4 T A 7: 27,019,071 (GRCm39) T1083S probably damaging Het
Mki67 T C 7: 135,300,686 (GRCm39) I1449M probably damaging Het
Nalf1 A T 8: 9,257,831 (GRCm39) V439E probably damaging Het
P2rx5 T A 11: 73,056,385 (GRCm39) V103E probably damaging Het
Pals1 T C 12: 78,877,681 (GRCm39) V531A possibly damaging Het
Pappa A G 4: 65,123,329 (GRCm39) D888G possibly damaging Het
Pcdhb21 G T 18: 37,647,958 (GRCm39) M362I probably benign Het
Pde1a A G 2: 79,705,628 (GRCm39) S333P probably damaging Het
Ppm1j A G 3: 104,691,408 (GRCm39) T299A probably damaging Het
Pramel46 G A 5: 95,418,510 (GRCm39) T162I probably benign Het
Ptdss2 A G 7: 140,732,749 (GRCm39) E168G probably damaging Het
Rspry1 A G 8: 95,376,444 (GRCm39) N322S probably benign Het
Slc7a9 T A 7: 35,156,485 (GRCm39) V309E probably damaging Het
Slco6c1 A G 1: 97,003,548 (GRCm39) probably benign Het
Tas2r120 T A 6: 132,634,227 (GRCm39) M103K probably damaging Het
Tbxas1 T A 6: 38,925,561 (GRCm39) F59I probably damaging Het
Tfpi A G 2: 84,274,378 (GRCm39) S203P probably benign Het
Tram2 T C 1: 21,074,083 (GRCm39) N285S possibly damaging Het
Trio T A 15: 27,846,896 (GRCm39) D980V probably damaging Het
Trpv5 T A 6: 41,637,229 (GRCm39) H419L probably damaging Het
Usp28 C T 9: 48,943,543 (GRCm39) R361* probably null Het
Vmn1r6 T A 6: 56,979,674 (GRCm39) L112* probably null Het
Vmn2r12 A T 5: 109,240,025 (GRCm39) N179K probably benign Het
Vmn2r82 G T 10: 79,214,691 (GRCm39) A225S probably benign Het
Zfp609 T C 9: 65,610,116 (GRCm39) E949G possibly damaging Het
Other mutations in Zcchc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00587:Zcchc4 APN 5 52,973,511 (GRCm39) missense probably benign 0.05
IGL00953:Zcchc4 APN 5 52,965,638 (GRCm39) missense probably damaging 1.00
IGL02248:Zcchc4 APN 5 52,953,418 (GRCm39) missense probably damaging 1.00
IGL02536:Zcchc4 APN 5 52,965,658 (GRCm39) missense probably damaging 1.00
R0060:Zcchc4 UTSW 5 52,964,420 (GRCm39) missense possibly damaging 0.67
R0060:Zcchc4 UTSW 5 52,964,420 (GRCm39) missense possibly damaging 0.67
R0573:Zcchc4 UTSW 5 52,953,321 (GRCm39) missense probably damaging 1.00
R0634:Zcchc4 UTSW 5 52,940,550 (GRCm39) missense probably benign 0.15
R1353:Zcchc4 UTSW 5 52,964,419 (GRCm39) missense probably benign 0.03
R1791:Zcchc4 UTSW 5 52,953,932 (GRCm39) missense probably damaging 1.00
R1854:Zcchc4 UTSW 5 52,973,168 (GRCm39) missense probably damaging 1.00
R2108:Zcchc4 UTSW 5 52,953,474 (GRCm39) missense probably damaging 0.99
R2696:Zcchc4 UTSW 5 52,953,573 (GRCm39) missense probably damaging 1.00
R2991:Zcchc4 UTSW 5 52,961,780 (GRCm39) missense probably damaging 1.00
R3894:Zcchc4 UTSW 5 52,941,442 (GRCm39) missense probably damaging 1.00
R4523:Zcchc4 UTSW 5 52,941,409 (GRCm39) missense probably damaging 1.00
R4672:Zcchc4 UTSW 5 52,953,947 (GRCm39) missense probably benign 0.00
R4772:Zcchc4 UTSW 5 52,953,549 (GRCm39) missense possibly damaging 0.83
R4905:Zcchc4 UTSW 5 52,953,992 (GRCm39) missense probably damaging 1.00
R4954:Zcchc4 UTSW 5 52,976,559 (GRCm39) missense probably damaging 1.00
R5093:Zcchc4 UTSW 5 52,953,952 (GRCm39) missense probably benign 0.38
R5371:Zcchc4 UTSW 5 52,942,512 (GRCm39) missense probably benign 0.19
R5401:Zcchc4 UTSW 5 52,964,419 (GRCm39) missense probably benign 0.03
R5755:Zcchc4 UTSW 5 52,973,511 (GRCm39) missense probably benign 0.00
R6110:Zcchc4 UTSW 5 52,953,486 (GRCm39) missense possibly damaging 0.95
R6244:Zcchc4 UTSW 5 52,940,503 (GRCm39) missense probably benign 0.00
R6465:Zcchc4 UTSW 5 52,976,618 (GRCm39) missense probably benign 0.03
R6906:Zcchc4 UTSW 5 52,980,976 (GRCm39) missense possibly damaging 0.66
R7019:Zcchc4 UTSW 5 52,941,375 (GRCm39) missense probably benign 0.00
R7363:Zcchc4 UTSW 5 52,942,510 (GRCm39) missense possibly damaging 0.88
R7643:Zcchc4 UTSW 5 52,965,635 (GRCm39) missense possibly damaging 0.85
R8097:Zcchc4 UTSW 5 52,953,333 (GRCm39) missense probably benign 0.34
R8158:Zcchc4 UTSW 5 52,973,260 (GRCm39) missense probably damaging 1.00
R8372:Zcchc4 UTSW 5 52,953,506 (GRCm39) missense probably damaging 1.00
R8545:Zcchc4 UTSW 5 52,976,741 (GRCm39) intron probably benign
R8755:Zcchc4 UTSW 5 52,976,724 (GRCm39) missense unknown
R9414:Zcchc4 UTSW 5 52,953,964 (GRCm39) missense probably benign 0.00
R9530:Zcchc4 UTSW 5 52,953,568 (GRCm39) frame shift probably null
Posted On 2014-05-07