Incidental Mutation 'R4225:Zcchc18'
ID 320024
Institutional Source Beutler Lab
Gene Symbol Zcchc18
Ensembl Gene ENSMUSG00000031428
Gene Name zinc finger, CCHC domain containing 18
Synonyms 1500031H04Rik, Sizn2
MMRRC Submission 041045-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R4225 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 135893904-135899221 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 135895415 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 10 (N10I)
Ref Sequence ENSEMBL: ENSMUSP00000108690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033804] [ENSMUST00000056674] [ENSMUST00000101227] [ENSMUST00000113067] [ENSMUST00000113069] [ENSMUST00000113070] [ENSMUST00000171738] [ENSMUST00000129807]
AlphaFold Q8VD24
Predicted Effect probably damaging
Transcript: ENSMUST00000033804
AA Change: N10I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000033804
Gene: ENSMUSG00000031428
AA Change: N10I

DomainStartEndE-ValueType
Pfam:PNMA 2 215 6.3e-41 PFAM
low complexity region 264 278 N/A INTRINSIC
ZnF_C2HC 347 363 2.25e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000056674
SMART Domains Protein: ENSMUSP00000050337
Gene: ENSMUSG00000044348

DomainStartEndE-ValueType
Pfam:Mito_carr 24 108 1e-8 PFAM
Pfam:Mito_carr 110 207 2.3e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000101227
AA Change: N10I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000098788
Gene: ENSMUSG00000031428
AA Change: N10I

DomainStartEndE-ValueType
Pfam:PNMA 2 215 6.3e-41 PFAM
low complexity region 264 278 N/A INTRINSIC
ZnF_C2HC 347 363 2.25e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113067
AA Change: N10I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108690
Gene: ENSMUSG00000031428
AA Change: N10I

DomainStartEndE-ValueType
Pfam:PNMA 2 215 6.3e-41 PFAM
low complexity region 264 278 N/A INTRINSIC
ZnF_C2HC 347 363 2.25e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113069
SMART Domains Protein: ENSMUSP00000108692
Gene: ENSMUSG00000044348

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Mito_carr 64 148 9.2e-9 PFAM
Pfam:Mito_carr 150 247 1.1e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113070
SMART Domains Protein: ENSMUSP00000108693
Gene: ENSMUSG00000044348

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Mito_carr 64 148 3.9e-9 PFAM
Pfam:Mito_carr 150 247 9.1e-12 PFAM
Pfam:Mito_carr 248 342 1.8e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122144
Predicted Effect probably benign
Transcript: ENSMUST00000171738
SMART Domains Protein: ENSMUSP00000132572
Gene: ENSMUSG00000044348

DomainStartEndE-ValueType
Pfam:Mito_carr 24 108 1.8e-8 PFAM
Pfam:Mito_carr 110 207 4.1e-11 PFAM
Pfam:Mito_carr 208 302 8.1e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129807
SMART Domains Protein: ENSMUSP00000118095
Gene: ENSMUSG00000044348

DomainStartEndE-ValueType
Pfam:Mito_carr 23 108 5.9e-9 PFAM
Pfam:Mito_carr 110 185 5.5e-7 PFAM
Meta Mutation Damage Score 0.3486 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 100% (38/38)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,085,106 (GRCm39) I569V possibly damaging Het
Aif1l A T 2: 31,852,251 (GRCm39) S40C probably damaging Het
Arhgef26 A G 3: 62,288,343 (GRCm39) D471G probably benign Het
Atp2a2 A G 5: 122,607,789 (GRCm39) V240A probably benign Het
Bsn A G 9: 107,983,932 (GRCm39) M3374T unknown Het
Ccdc66 A G 14: 27,212,736 (GRCm39) L529P probably damaging Het
Ctif A G 18: 75,568,308 (GRCm39) I610T probably benign Het
Ecpas A T 4: 58,847,027 (GRCm39) Y512N probably damaging Het
Eif3c C G 7: 126,165,471 (GRCm39) probably benign Het
Esyt1 T C 10: 128,356,517 (GRCm39) Y376C probably damaging Het
Gba2 A T 4: 43,569,464 (GRCm39) probably benign Het
Grin1 T C 2: 25,187,332 (GRCm39) probably benign Het
Herc2 A G 7: 55,814,735 (GRCm39) E2696G probably damaging Het
Itgal A T 7: 126,904,484 (GRCm39) K319M probably damaging Het
Lama3 T C 18: 12,583,460 (GRCm39) C683R probably damaging Het
Lrig1 T A 6: 94,599,639 (GRCm39) I348F probably damaging Het
Mc3r G A 2: 172,090,954 (GRCm39) V59M probably damaging Het
Msh3 T C 13: 92,422,431 (GRCm39) K575R probably benign Het
Musk A T 4: 58,373,240 (GRCm39) M714L probably damaging Het
Odad2 A G 18: 7,181,732 (GRCm39) probably null Het
Pcdhgb7 T A 18: 37,886,856 (GRCm39) D675E probably benign Het
Pkd1 T C 17: 24,812,497 (GRCm39) I3810T possibly damaging Het
Pou2f1 T C 1: 165,738,889 (GRCm39) I177V possibly damaging Het
Rb1 T C 14: 73,506,631 (GRCm39) M373V possibly damaging Het
Ric1 A G 19: 29,580,131 (GRCm39) N1311D possibly damaging Het
Scn3a A G 2: 65,366,771 (GRCm39) Y84H probably damaging Het
Slc25a45 A T 19: 5,930,146 (GRCm39) I39F probably damaging Het
Slc8a1 A G 17: 81,956,781 (GRCm39) F86L probably damaging Het
Spdya G A 17: 71,869,519 (GRCm39) V105I probably benign Het
Sspo G T 6: 48,428,091 (GRCm39) V313L possibly damaging Het
Stard9 A G 2: 120,495,472 (GRCm39) T116A possibly damaging Het
Stpg2 G A 3: 138,921,053 (GRCm39) R86Q probably damaging Het
Tdrd6 C T 17: 43,936,864 (GRCm39) D1395N probably damaging Het
Vmn2r101 T A 17: 19,831,951 (GRCm39) I649N probably damaging Het
Other mutations in Zcchc18
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4224:Zcchc18 UTSW X 135,895,415 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GTTCCCAAGTCTATTGCGTTATTG -3'
(R):5'- ATGCATTTGGAGAAGCCCC -3'

Sequencing Primer
(F):5'- TTGCGTTATTGAATTTTTGTTTTGTC -3'
(R):5'- TCTTCAGACATAGGCCAATCTGG -3'
Posted On 2015-06-12