Incidental Mutation 'R8158:Zcchc4'
ID 633354
Institutional Source Beutler Lab
Gene Symbol Zcchc4
Ensembl Gene ENSMUSG00000029179
Gene Name zinc finger, CCHC domain containing 4
Synonyms 4930449I23Rik
MMRRC Submission 067584-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.168) question?
Stock # R8158 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 52932751-52982007 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 52973260 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 375 (Y375H)
Ref Sequence ENSEMBL: ENSMUSP00000031077 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031077] [ENSMUST00000113904]
AlphaFold Q8BKW4
Predicted Effect probably damaging
Transcript: ENSMUST00000031077
AA Change: Y375H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031077
Gene: ENSMUSG00000029179
AA Change: Y375H

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 probably damaging
Transcript: ENSMUST00000113904
AA Change: Y375H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109537
Gene: ENSMUSG00000029179
AA Change: Y375H

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl2 T A 1: 156,469,639 (GRCm39) S968T probably benign Het
Adcy8 T C 15: 64,655,655 (GRCm39) D608G probably benign Het
Adgb C T 10: 10,254,478 (GRCm39) V1162M probably benign Het
Agrn A G 4: 156,258,346 (GRCm39) V1040A probably benign Het
Amer3 A T 1: 34,626,741 (GRCm39) T327S possibly damaging Het
Apaf1 C T 10: 90,895,520 (GRCm39) C426Y probably benign Het
Bsn T C 9: 107,987,232 (GRCm39) D2840G unknown Het
Camsap1 A T 2: 25,834,440 (GRCm39) C406* probably null Het
Cbr2 A T 11: 120,621,123 (GRCm39) M158K probably damaging Het
Cgrrf1 T C 14: 47,091,192 (GRCm39) S239P probably benign Het
Clnk C A 5: 38,952,254 (GRCm39) probably null Het
Csad T C 15: 102,086,197 (GRCm39) M445V probably damaging Het
Dnajb7 T A 15: 81,291,600 (GRCm39) N246Y probably damaging Het
Dok6 T C 18: 89,492,071 (GRCm39) I169V probably benign Het
H2bc14 T C 13: 21,906,631 (GRCm39) Y122H probably benign Het
Il1f10 T G 2: 24,181,267 (GRCm39) I11R possibly damaging Het
Irs1 C T 1: 82,267,254 (GRCm39) V321M probably damaging Het
Itga9 T C 9: 118,706,211 (GRCm39) F938L probably damaging Het
Kif7 T C 7: 79,354,442 (GRCm39) D781G probably damaging Het
Klhl41 A T 2: 69,501,505 (GRCm39) N322I probably damaging Het
Krtap31-1 T G 11: 99,798,901 (GRCm39) C35G possibly damaging Het
Lsm11 A T 11: 45,824,824 (GRCm39) D234E probably benign Het
Med6 T C 12: 81,620,677 (GRCm39) K223R probably benign Het
Mfsd4b2 G A 10: 39,798,064 (GRCm39) T97I probably benign Het
Mrgpra1 A T 7: 46,985,204 (GRCm39) C158* probably null Het
Nr2e1 T C 10: 42,458,881 (GRCm39) T8A probably benign Het
Oas2 T C 5: 120,887,838 (GRCm39) M1V probably null Het
Or13a27 T C 7: 139,925,162 (GRCm39) I247V probably benign Het
Or14a260 T A 7: 85,984,885 (GRCm39) I240F probably benign Het
Or1e33 T A 11: 73,738,697 (GRCm39) M85L probably benign Het
Or8k17 T C 2: 86,066,504 (GRCm39) Y218C probably damaging Het
Or8w1 T A 2: 87,465,233 (GRCm39) N286I probably damaging Het
Otof C T 5: 30,537,538 (GRCm39) G1257D probably benign Het
Phf2 T C 13: 48,971,236 (GRCm39) T479A probably benign Het
Pik3c2a T C 7: 115,942,232 (GRCm39) N1516S probably benign Het
Qrich1 C A 9: 108,433,236 (GRCm39) T622K probably damaging Het
Rasip1 A G 7: 45,281,943 (GRCm39) K482R probably damaging Het
Rgl2 T C 17: 34,155,918 (GRCm39) F698L probably benign Het
Scarb1 T C 5: 125,380,201 (GRCm39) D124G probably benign Het
Sclt1 A G 3: 41,625,917 (GRCm39) I350T probably benign Het
Sec23ip T G 7: 128,369,364 (GRCm39) V696G probably damaging Het
Serpina1e G T 12: 103,917,354 (GRCm39) T105K probably benign Het
Sin3a A G 9: 57,020,828 (GRCm39) probably null Het
Slc34a2 A G 5: 53,218,182 (GRCm39) T154A probably damaging Het
Slc9a3 T C 13: 74,303,241 (GRCm39) L178P probably damaging Het
Smarca2 A C 19: 26,659,448 (GRCm39) I913L probably benign Het
Spaca7b T A 8: 11,715,056 (GRCm39) D46V probably damaging Het
Tcea3 G A 4: 136,001,027 (GRCm39) probably null Het
Tektl1 G C 10: 78,584,509 (GRCm39) Q338E probably benign Het
Tmcc1 T A 6: 116,020,435 (GRCm39) H339L Het
Trpm2 G T 10: 77,783,731 (GRCm39) H247Q probably damaging Het
Tyr T A 7: 87,121,724 (GRCm39) D356V probably damaging Het
Vmn2r54 A T 7: 12,349,888 (GRCm39) C565S probably damaging Het
Vmn2r82 A C 10: 79,213,636 (GRCm39) N74T probably benign Het
Zfhx3 T A 8: 109,675,353 (GRCm39) D2134E possibly damaging Het
Zfhx4 T A 3: 5,464,010 (GRCm39) Y1414* probably null Het
Zfp282 A T 6: 47,867,626 (GRCm39) E267D possibly damaging Het
Zfp442 A T 2: 150,251,096 (GRCm39) C269S possibly damaging Het
Zp3 T A 5: 136,014,418 (GRCm39) S246T probably benign 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
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
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'- TTGGTTAAAGGAGCTTAGCGAATG -3'
(R):5'- TGAGCCGCAAGTGTTCATTG -3'

Sequencing Primer
(F):5'- AGGAGCTTAGCGAATGTTGACTC -3'
(R):5'- CCGCAAGTGTTCATTGAGATTCAC -3'
Posted On 2020-06-30