Incidental Mutation 'R1367:Zdhhc23'
ID 156094
Institutional Source Beutler Lab
Gene Symbol Zdhhc23
Ensembl Gene ENSMUSG00000036304
Gene Name zinc finger, DHHC domain containing 23
Synonyms LOC385651, LOC332175
MMRRC Submission 039432-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1367 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 43785396-43800154 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43794513 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 54 (S54P)
Ref Sequence ENSEMBL: ENSMUSP00000156089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036321] [ENSMUST00000165648] [ENSMUST00000231700] [ENSMUST00000232055]
AlphaFold Q5Y5T3
Predicted Effect probably benign
Transcript: ENSMUST00000036321
AA Change: S54P

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000044744
Gene: ENSMUSG00000036304
AA Change: S54P

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
transmembrane domain 82 99 N/A INTRINSIC
transmembrane domain 103 125 N/A INTRINSIC
transmembrane domain 132 151 N/A INTRINSIC
Pfam:zf-DHHC 175 378 3.8e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165648
AA Change: S54P

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000128650
Gene: ENSMUSG00000036304
AA Change: S54P

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
transmembrane domain 82 99 N/A INTRINSIC
transmembrane domain 103 125 N/A INTRINSIC
transmembrane domain 132 151 N/A INTRINSIC
transmembrane domain 161 180 N/A INTRINSIC
Pfam:zf-DHHC 244 378 8.4e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000231700
AA Change: S54P

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000232055
AA Change: S54P

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
Meta Mutation Damage Score 0.0586 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 94.2%
  • 20x: 86.6%
Validation Efficiency 98% (48/49)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T C 16: 14,261,250 (GRCm39) V676A probably damaging Het
Acvr1b T C 15: 101,091,819 (GRCm39) L33P possibly damaging Het
Adamts12 T G 15: 11,256,980 (GRCm39) probably benign Het
Ank1 T A 8: 23,601,819 (GRCm39) probably benign Het
Arhgef10 T A 8: 14,990,225 (GRCm39) D233E probably damaging Het
Cd209e T C 8: 3,899,084 (GRCm39) *209W probably null Het
Cebpz A G 17: 79,230,742 (GRCm39) V825A probably benign Het
Cep170 A G 1: 176,563,290 (GRCm39) F1575L probably damaging Het
Exoc2 A T 13: 31,066,256 (GRCm39) Y473* probably null Het
F3 A G 3: 121,523,023 (GRCm39) T78A probably damaging Het
Fanca G A 8: 124,031,020 (GRCm39) probably benign Het
Gga2 G A 7: 121,598,138 (GRCm39) R319* probably null Het
Gid8 A G 2: 180,355,025 (GRCm39) I10M probably benign Het
Glrb A G 3: 80,769,311 (GRCm39) W139R probably damaging Het
H2-M1 A G 17: 36,982,059 (GRCm39) S181P probably benign Het
Hectd3 G T 4: 116,854,367 (GRCm39) V310L probably null Het
Insyn1 G T 9: 58,406,263 (GRCm39) D58Y probably damaging Het
Kif17 C A 4: 138,005,305 (GRCm39) S290* probably null Het
Kif26b A G 1: 178,744,028 (GRCm39) N1375D probably damaging Het
Lgr4 C G 2: 109,821,480 (GRCm39) P121A probably damaging Het
Ly75 A G 2: 60,124,102 (GRCm39) probably null Het
Mfsd13a C T 19: 46,354,943 (GRCm39) T40I probably benign Het
Nek3 T C 8: 22,650,377 (GRCm39) probably benign Het
Nin A T 12: 70,090,703 (GRCm39) L904Q probably damaging Het
Nlrp14 A G 7: 106,782,018 (GRCm39) D405G probably benign Het
Nuak1 C T 10: 84,228,192 (GRCm39) probably benign Het
Or5h23 T A 16: 58,906,706 (GRCm39) I47F probably benign Het
Plcg2 T A 8: 118,341,977 (GRCm39) W1113R probably damaging Het
Pms2 G A 5: 143,862,731 (GRCm39) V613M probably damaging Het
Prl3b1 G A 13: 27,427,848 (GRCm39) A53T probably benign Het
Pxk T G 14: 8,150,915 (GRCm38) probably null Het
Rasl10b G A 11: 83,308,665 (GRCm39) probably null Het
Rbm28 A T 6: 29,137,639 (GRCm39) I438N probably damaging Het
Rictor T C 15: 6,820,119 (GRCm39) probably benign Het
Slc41a1 A G 1: 131,771,746 (GRCm39) T387A probably benign Het
Slc44a2 T C 9: 21,254,322 (GRCm39) V228A probably benign Het
Slpi A G 2: 164,196,787 (GRCm39) probably benign Het
Tkfc A G 19: 10,570,838 (GRCm39) S481P probably benign Het
Tll2 G A 19: 41,108,667 (GRCm39) R328C probably damaging Het
Tns3 T C 11: 8,398,704 (GRCm39) H1216R probably benign Het
Ugt2b38 A T 5: 87,571,973 (GRCm39) S20T probably benign Het
Usp48 T A 4: 137,366,606 (GRCm39) D921E possibly damaging Het
Usp48 T A 4: 137,371,774 (GRCm39) S967T probably damaging Het
Vmn2r115 ATCTTCT ATCT 17: 23,578,962 (GRCm39) probably benign Het
Other mutations in Zdhhc23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01616:Zdhhc23 APN 16 43,793,843 (GRCm39) missense probably damaging 1.00
R0179:Zdhhc23 UTSW 16 43,794,066 (GRCm39) missense probably benign 0.06
R0180:Zdhhc23 UTSW 16 43,794,066 (GRCm39) missense probably benign 0.06
R1557:Zdhhc23 UTSW 16 43,791,829 (GRCm39) missense possibly damaging 0.63
R1997:Zdhhc23 UTSW 16 43,799,305 (GRCm39) missense probably damaging 1.00
R2035:Zdhhc23 UTSW 16 43,793,871 (GRCm39) missense probably damaging 1.00
R2153:Zdhhc23 UTSW 16 43,794,282 (GRCm39) missense probably benign 0.03
R2497:Zdhhc23 UTSW 16 43,794,278 (GRCm39) missense probably damaging 1.00
R3432:Zdhhc23 UTSW 16 43,794,533 (GRCm39) splice site probably benign
R4776:Zdhhc23 UTSW 16 43,793,952 (GRCm39) missense possibly damaging 0.79
R5067:Zdhhc23 UTSW 16 43,794,134 (GRCm39) missense probably benign 0.00
R7086:Zdhhc23 UTSW 16 43,791,873 (GRCm39) missense probably damaging 0.98
R7840:Zdhhc23 UTSW 16 43,791,907 (GRCm39) missense possibly damaging 0.93
R7876:Zdhhc23 UTSW 16 43,789,663 (GRCm39) missense probably damaging 0.98
R8416:Zdhhc23 UTSW 16 43,791,927 (GRCm39) missense probably damaging 1.00
R8843:Zdhhc23 UTSW 16 43,794,227 (GRCm39) missense probably damaging 0.99
R9394:Zdhhc23 UTSW 16 43,791,826 (GRCm39) missense probably damaging 1.00
R9491:Zdhhc23 UTSW 16 43,794,062 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACATGTAGCCCAGTGAGAACAGCC -3'
(R):5'- CCTGGAAGACCATTACCGCTTACC -3'

Sequencing Primer
(F):5'- TCAGGAAAAACAGCGTCTGTTC -3'
(R):5'- CCGTGTATTTAGGAAAGATGGC -3'
Posted On 2014-02-11