Incidental Mutation 'R4224:Zcchc18'
ID 319987
Institutional Source Beutler Lab
Gene Symbol Zcchc18
Ensembl Gene ENSMUSG00000031428
Gene Name zinc finger, CCHC domain containing 18
Synonyms 1500031H04Rik, Sizn2
MMRRC Submission 041044-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R4224 (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: 97.5%
  • 20x: 96.0%
Validation Efficiency 95% (42/44)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330182O14Rik T C 15: 40,005,672 (GRCm39) probably null Het
Abl2 A G 1: 156,461,417 (GRCm39) T440A probably damaging Het
Acat2 T C 17: 13,181,772 (GRCm39) probably benign Het
Acsbg1 C T 9: 54,523,325 (GRCm39) R434H possibly damaging Het
Aif1l A T 2: 31,852,251 (GRCm39) S40C probably damaging Het
Atosa T A 9: 74,916,008 (GRCm39) N209K probably damaging Het
Atp6v1a C A 16: 43,922,174 (GRCm39) A355S probably damaging Het
Corin T C 5: 72,500,451 (GRCm39) E391G probably damaging Het
Dnah11 T G 12: 118,094,627 (GRCm39) S814R probably benign Het
Fer1l4 A C 2: 155,862,309 (GRCm39) V1788G probably benign Het
Gm7964 T G 7: 83,406,030 (GRCm39) N281K probably damaging Het
Grin1 T C 2: 25,187,332 (GRCm39) probably benign Het
Ica1 T C 6: 8,659,960 (GRCm39) K112R probably benign Het
Itpr3 T C 17: 27,326,232 (GRCm39) V1334A probably damaging Het
Khdc3 C G 9: 73,010,153 (GRCm39) H70D possibly damaging Het
Lama3 T C 18: 12,583,460 (GRCm39) C683R probably damaging Het
Mettl21a G T 1: 64,647,115 (GRCm39) Y147* probably null Het
Mr1 A T 1: 155,006,465 (GRCm39) I294N possibly damaging Het
Or52z12 A G 7: 103,233,966 (GRCm39) T246A probably damaging Het
Or7e170 T A 9: 19,794,896 (GRCm39) Y235F probably benign Het
Pals1 A G 12: 78,876,492 (GRCm39) K479E probably damaging Het
Pcdhgb7 T A 18: 37,886,856 (GRCm39) D675E probably benign Het
Polr1has T C 17: 37,269,617 (GRCm39) probably benign Het
Ptbp1 T C 10: 79,695,047 (GRCm39) I125T probably benign Het
Rnf213 C T 11: 119,327,649 (GRCm39) R1879* probably null 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
Tnnt1 T C 7: 4,513,006 (GRCm39) H92R probably damaging Het
Trim37 T A 11: 87,107,289 (GRCm39) C907S probably damaging Het
Trim43b T A 9: 88,972,692 (GRCm39) Q154L probably benign Het
Tssk3 T C 4: 129,384,392 (GRCm39) D3G probably benign Het
Ubash3a T C 17: 31,456,902 (GRCm39) Y521H probably damaging Het
Vmn1r73 T C 7: 11,490,506 (GRCm39) I108T probably damaging Het
Vmn2r14 A G 5: 109,364,149 (GRCm39) M589T probably benign Het
Vmn2r60 A T 7: 41,765,952 (GRCm39) T20S probably benign Het
Vps13b A G 15: 35,876,565 (GRCm39) T2799A probably damaging Het
Other mutations in Zcchc18
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4225: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