Incidental Mutation 'R8791:Zcchc8'
ID 670937
Institutional Source Beutler Lab
Gene Symbol Zcchc8
Ensembl Gene ENSMUSG00000029427
Gene Name zinc finger, CCHC domain containing 8
Synonyms 5730565F05Rik
MMRRC Submission 068609-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.328) question?
Stock # R8791 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 123836365-123859107 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 123845362 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 333 (N333D)
Ref Sequence ENSEMBL: ENSMUSP00000031376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031376] [ENSMUST00000196282]
AlphaFold Q9CYA6
Predicted Effect probably benign
Transcript: ENSMUST00000031376
AA Change: N333D

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000031376
Gene: ENSMUSG00000029427
AA Change: N333D

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: ENSMUST00000196001
Predicted Effect probably benign
Transcript: ENSMUST00000196282
AA Change: N333D

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000142363
Gene: ENSMUSG00000029427
AA Change: N333D

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 probably benign
Transcript: ENSMUST00000200161
Meta Mutation Damage Score 0.0774 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (47/47)
Allele List at MGI

All alleles(12) : Gene trapped(12)

Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931422A03Rik G T 2: 103,823,022 (GRCm39) T87K possibly damaging Het
Adar G A 3: 89,643,445 (GRCm39) R442Q probably benign Het
Agtr1b T A 3: 20,370,280 (GRCm39) S109C probably damaging Het
Akr1c6 T A 13: 4,499,373 (GRCm39) Y248N probably benign Het
Alpk2 A T 18: 65,438,597 (GRCm39) V932E probably benign Het
Apba3 T A 10: 81,105,104 (GRCm39) S126T probably benign Het
Brca2 T A 5: 150,466,061 (GRCm39) S1942T possibly damaging Het
Ccdc149 C T 5: 52,596,552 (GRCm39) C20Y probably damaging Het
Cd63 C A 10: 128,748,071 (GRCm39) N156K probably benign Het
Clvs1 A G 4: 9,429,807 (GRCm39) E270G probably damaging Het
Cplane1 A G 15: 8,216,744 (GRCm39) Y654C probably damaging Het
Dgki A T 6: 36,996,875 (GRCm39) D574E probably damaging Het
Esrrb A G 12: 86,517,056 (GRCm39) S63G probably damaging Het
Exoc1 C T 5: 76,683,412 (GRCm39) R46C probably damaging Het
Fcgr4 C A 1: 170,847,477 (GRCm39) A25D probably damaging Het
Fgf4 T C 7: 144,415,408 (GRCm39) V56A probably benign Het
Gfpt2 A G 11: 49,714,043 (GRCm39) I267V probably benign Het
Gm20939 A C 17: 95,184,648 (GRCm39) H432P probably damaging Het
Gpr179 A T 11: 97,242,739 (GRCm39) L35Q probably damaging Het
Idh1 CA CAA 1: 65,204,347 (GRCm39) probably null Het
Ildr1 T C 16: 36,528,762 (GRCm39) I69T probably damaging Het
Lrfn1 A G 7: 28,159,344 (GRCm39) D421G probably benign Het
Mmp15 C T 8: 96,096,288 (GRCm39) Q360* probably null Het
Nfatc2 T C 2: 168,378,214 (GRCm39) K484E probably damaging Het
Nkpd1 G C 7: 19,258,095 (GRCm39) V625L probably benign Het
Nlrp4a C A 7: 26,143,561 (GRCm39) probably benign Het
Nme9 T A 9: 99,350,301 (GRCm39) I178N probably damaging Het
Nrp2 C T 1: 62,788,356 (GRCm39) T352I probably damaging Het
Ntrk1 T C 3: 87,686,990 (GRCm39) I723V probably damaging Het
Or5p50 C T 7: 107,422,557 (GRCm39) V40M possibly damaging Het
Pias3 C A 3: 96,612,201 (GRCm39) Q553K probably benign Het
Pnp2 T G 14: 51,200,873 (GRCm39) H119Q probably benign Het
Rapgef6 T A 11: 54,459,295 (GRCm39) D156E probably benign Het
Rint1 T C 5: 24,005,594 (GRCm39) V92A probably damaging Het
Rnf148 A T 6: 23,654,993 (GRCm39) M1K probably null Het
Rnh1 C T 7: 140,742,346 (GRCm39) R404H probably benign Het
Slc4a8 T C 15: 100,705,134 (GRCm39) V832A possibly damaging Het
Snx31 A T 15: 36,537,678 (GRCm39) C167S probably benign Het
Spart A G 3: 55,029,100 (GRCm39) D297G probably benign Het
Spata13 C T 14: 60,929,275 (GRCm39) R278C probably damaging Het
Tmc1 T C 19: 20,767,209 (GRCm39) T716A probably benign Het
Tpi1 A G 6: 124,789,483 (GRCm39) V164A probably damaging Het
Trim17 A G 11: 58,862,002 (GRCm39) S345G probably benign Het
Vmn1r199 T A 13: 22,567,687 (GRCm39) L327Q probably damaging Het
Washc4 C T 10: 83,386,748 (GRCm39) T124I probably benign Het
Wdr76 C T 2: 121,357,484 (GRCm39) T180I probably benign Het
Zfp516 T C 18: 82,975,460 (GRCm39) S553P probably damaging Het
Other mutations in Zcchc8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01341:Zcchc8 APN 5 123,842,632 (GRCm39) missense probably benign 0.43
IGL01536:Zcchc8 APN 5 123,858,782 (GRCm39) critical splice donor site probably null
IGL02083:Zcchc8 APN 5 123,838,981 (GRCm39) missense probably damaging 1.00
IGL02838:Zcchc8 APN 5 123,857,546 (GRCm39) splice site probably benign
3-1:Zcchc8 UTSW 5 123,847,544 (GRCm39) missense probably damaging 1.00
PIT4515001:Zcchc8 UTSW 5 123,838,995 (GRCm39) missense probably benign 0.23
R0127:Zcchc8 UTSW 5 123,845,400 (GRCm39) missense probably damaging 1.00
R1134:Zcchc8 UTSW 5 123,855,090 (GRCm39) missense probably damaging 1.00
R1604:Zcchc8 UTSW 5 123,838,721 (GRCm39) missense probably benign 0.00
R1744:Zcchc8 UTSW 5 123,838,436 (GRCm39) nonsense probably null
R2216:Zcchc8 UTSW 5 123,845,466 (GRCm39) missense probably damaging 1.00
R2303:Zcchc8 UTSW 5 123,838,660 (GRCm39) missense probably benign 0.00
R2877:Zcchc8 UTSW 5 123,838,766 (GRCm39) missense probably benign 0.05
R2964:Zcchc8 UTSW 5 123,858,930 (GRCm39) missense probably benign 0.00
R2966:Zcchc8 UTSW 5 123,858,930 (GRCm39) missense probably benign 0.00
R6831:Zcchc8 UTSW 5 123,838,972 (GRCm39) missense probably damaging 1.00
R7908:Zcchc8 UTSW 5 123,858,783 (GRCm39) critical splice donor site probably benign
R8738:Zcchc8 UTSW 5 123,841,070 (GRCm39) missense probably damaging 0.99
R9487:Zcchc8 UTSW 5 123,847,300 (GRCm39) missense probably damaging 0.99
R9495:Zcchc8 UTSW 5 123,838,633 (GRCm39) missense probably benign 0.00
R9508:Zcchc8 UTSW 5 123,842,584 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- CCAGCCATCCCTGTCATTAG -3'
(R):5'- ACTTCATGCTATGTAGTATGGGAC -3'

Sequencing Primer
(F):5'- CGAGCTGGCTTCAAACTGAGATC -3'
(R):5'- TGCTCTTTCAGAGGACACAG -3'
Posted On 2021-04-30