Incidental Mutation 'IGL01681:Zcchc3'
ID103811
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zcchc3
Ensembl Gene ENSMUSG00000074682
Gene Namezinc finger, CCHC domain containing 3
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.113) question?
Stock #IGL01681
Quality Score
Status
Chromosome2
Chromosomal Location152411955-152415027 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 152414005 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 258 (N258S)
Ref Sequence ENSEMBL: ENSMUSP00000096813 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039961] [ENSMUST00000099207]
Predicted Effect probably benign
Transcript: ENSMUST00000039961
SMART Domains Protein: ENSMUSP00000037024
Gene: ENSMUSG00000032680

DomainStartEndE-ValueType
Pfam:DUF4618 96 353 4.1e-105 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000099207
AA Change: N258S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000096813
Gene: ENSMUSG00000074682
AA Change: N258S

DomainStartEndE-ValueType
low complexity region 63 80 N/A INTRINSIC
Blast:Pept_C1 163 304 9e-20 BLAST
ZnF_C2HC 331 347 4.18e-2 SMART
ZnF_C2HC 349 365 3.3e-3 SMART
ZnF_C2HC 368 384 4.34e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157514
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adnp2 T A 18: 80,127,888 E1102V probably damaging Het
Appl2 T A 10: 83,614,301 I236F possibly damaging Het
Asb15 C A 6: 24,567,138 T486K probably damaging Het
Bsdc1 T C 4: 129,465,348 probably null Het
Cts8 G T 13: 61,253,619 Q61K probably benign Het
Cyp2d34 C T 15: 82,617,131 probably null Het
Dnah12 A G 14: 26,722,160 T575A probably benign Het
Dync2h1 T C 9: 7,142,196 probably null Het
Fam170a A G 18: 50,282,235 D316G possibly damaging Het
Gtf2h3 T A 5: 124,594,791 L216Q probably damaging Het
Heatr6 T A 11: 83,765,000 S306T probably benign Het
Hey2 A G 10: 30,834,137 S207P probably benign Het
Kng2 T A 16: 22,997,017 probably benign Het
Lama2 C T 10: 27,265,045 E653K probably benign Het
Lrrcc1 T C 3: 14,548,226 V37A probably benign Het
Neb T C 2: 52,201,486 D5085G probably damaging Het
Nexn T C 3: 152,243,870 M321V possibly damaging Het
Nsmce3 A G 7: 64,872,473 I149T probably benign Het
Oxct1 T G 15: 4,101,844 S405A possibly damaging Het
Pdpr T A 8: 111,132,936 N703K probably damaging Het
Scn10a A T 9: 119,694,077 D83E probably damaging Het
Slc47a2 C T 11: 61,338,040 A104T probably damaging Het
Slc4a2 A G 5: 24,434,187 I393V probably damaging Het
Thoc6 A T 17: 23,669,883 L184M possibly damaging Het
Tjp2 C T 19: 24,134,849 probably null Het
Tmem63b A G 17: 45,663,571 L591P probably damaging Het
Tnrc6b A G 15: 80,879,311 probably null Het
Trmt5 G T 12: 73,282,603 probably benign Het
Ubap1l T A 9: 65,373,919 M293K probably benign Het
Yars A G 4: 129,206,142 E211G probably damaging Het
Zbbx A C 3: 75,052,478 Y595D probably damaging Het
Zc3h10 G A 10: 128,545,240 Q83* probably null Het
Other mutations in Zcchc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1915:Zcchc3 UTSW 2 152413681 missense probably benign
R1968:Zcchc3 UTSW 2 152414092 missense probably damaging 0.97
R4449:Zcchc3 UTSW 2 152414722 missense probably benign
R5437:Zcchc3 UTSW 2 152414732 missense probably benign 0.03
R5867:Zcchc3 UTSW 2 152414524 missense probably damaging 0.98
R7269:Zcchc3 UTSW 2 152414374 missense probably benign 0.06
R7468:Zcchc3 UTSW 2 152414695 missense probably benign
Posted On2014-01-21