Incidental Mutation 'R6906:Zcchc4'
ID 538773
Institutional Source Beutler Lab
Gene Symbol Zcchc4
Ensembl Gene ENSMUSG00000029179
Gene Name zinc finger, CCHC domain containing 4
Synonyms 4930449I23Rik
MMRRC Submission 044998-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.168) question?
Stock # R6906 (G1)
Quality Score 140.008
Status Validated
Chromosome 5
Chromosomal Location 52932751-52982007 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 52980976 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 473 (K473E)
Ref Sequence ENSEMBL: ENSMUSP00000109537 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031077] [ENSMUST00000113904]
AlphaFold Q8BKW4
Predicted Effect probably benign
Transcript: ENSMUST00000031077
SMART Domains Protein: ENSMUSP00000031077
Gene: ENSMUSG00000029179

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 possibly damaging
Transcript: ENSMUST00000113904
AA Change: K473E

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000109537
Gene: ENSMUSG00000029179
AA Change: K473E

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
Meta Mutation Damage Score 0.0732 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.3%
Validation Efficiency 98% (45/46)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf2 A G 5: 24,773,840 (GRCm39) F350L possibly damaging Het
Ahnak2 T A 12: 112,748,933 (GRCm39) T305S probably benign Het
Anp32a A G 9: 62,284,851 (GRCm39) probably benign Het
Aplf A G 6: 87,607,068 (GRCm39) S449P possibly damaging Het
Arl6ip4 A G 5: 124,254,614 (GRCm39) R36G possibly damaging Het
Ascc1 G A 10: 59,840,674 (GRCm39) D12N probably benign Het
Bin1 C A 18: 32,554,978 (GRCm39) H243Q probably benign Het
Ccdc168 C T 1: 44,095,173 (GRCm39) S1975N probably benign Het
Ccdc7a C A 8: 129,662,162 (GRCm39) V547L unknown Het
Cntnap5c T A 17: 58,702,302 (GRCm39) N1207K probably benign Het
Coro7 C A 16: 4,451,168 (GRCm39) R507L probably benign Het
Crtap T A 9: 114,210,700 (GRCm39) K291N probably benign Het
Csmd3 T C 15: 47,710,569 (GRCm39) T1569A probably benign Het
Dmrta1 A G 4: 89,580,203 (GRCm39) T388A probably benign Het
Ehd3 T C 17: 74,137,333 (GRCm39) F501L probably damaging Het
Fbn2 A C 18: 58,204,891 (GRCm39) L1184R possibly damaging Het
Fhip1b G A 7: 105,037,476 (GRCm39) T369I probably damaging Het
Hsf1 T C 15: 76,361,919 (GRCm39) probably null Het
Hycc1 A T 5: 24,204,956 (GRCm39) W12R probably damaging Het
Kansl1l T C 1: 66,762,437 (GRCm39) H810R possibly damaging Het
Lrp5 A T 19: 3,672,638 (GRCm39) I557N probably damaging Het
Lypd1 T C 1: 125,838,196 (GRCm39) E41G probably damaging Het
Mgam A G 6: 40,724,853 (GRCm39) Y443C probably damaging Het
Muc2 A G 7: 141,284,976 (GRCm39) D871G probably damaging Het
Nup85 T A 11: 115,471,769 (GRCm39) Y198N probably damaging Het
Obscn T A 11: 58,923,744 (GRCm39) M6578L possibly damaging Het
Or8h7 T C 2: 86,721,091 (GRCm39) T143A probably benign Het
Osbpl5 G C 7: 143,248,065 (GRCm39) Q667E probably damaging Het
Ovgp1 T A 3: 105,894,189 (GRCm39) probably benign Het
Prl8a2 T A 13: 27,532,900 (GRCm39) N37K probably benign Het
Ptprf A T 4: 118,126,474 (GRCm39) I93N possibly damaging Het
Rnf112 T C 11: 61,341,215 (GRCm39) S457G probably null Het
Sema3e A G 5: 14,290,601 (GRCm39) D562G probably damaging Het
Sesn3 A G 9: 14,236,937 (GRCm39) M472V probably damaging Het
Sfpq GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC GCCGCCGCAGCAGCC 4: 126,915,419 (GRCm39) probably benign Het
Shc3 T C 13: 51,620,595 (GRCm39) T144A probably damaging Het
Sis A G 3: 72,826,818 (GRCm39) L1287P probably damaging Het
Srrm2 C T 17: 24,039,337 (GRCm39) P2090S probably damaging Het
Syne2 T G 12: 76,042,760 (GRCm39) D3910E possibly damaging Het
Tcaim C T 9: 122,663,839 (GRCm39) T443I probably benign Het
Tex19.1 T C 11: 121,037,948 (GRCm39) V102A probably benign Het
Tpd52l1 T G 10: 31,208,950 (GRCm39) T168P possibly damaging Het
Trdn G A 10: 33,109,944 (GRCm39) C294Y probably benign Het
Trmt1l T C 1: 151,327,926 (GRCm39) Y479H probably benign Het
Vmn1r171 G A 7: 23,331,804 (GRCm39) V10I probably benign Het
Zbtb41 T A 1: 139,351,128 (GRCm39) D80E 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
IGL01860:Zcchc4 APN 5 52,965,698 (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
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
Predicted Primers PCR Primer
(F):5'- TGTGTGATCAGGCCCATCTC -3'
(R):5'- TTTAAGTCCATGTGGCACGC -3'

Sequencing Primer
(F):5'- TTCCTTGTTGTCATGGTTAGGACAC -3'
(R):5'- CACGCGGAGAAAATGGCATC -3'
Posted On 2018-11-06