Incidental Mutation 'R5067:Zdhhc23'
ID 388390
Institutional Source Beutler Lab
Gene Symbol Zdhhc23
Ensembl Gene ENSMUSG00000036304
Gene Name zinc finger, DHHC domain containing 23
Synonyms LOC385651, LOC332175
MMRRC Submission 042657-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5067 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 43785396-43800154 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43794134 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 180 (Y180C)
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: Y180C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000044744
Gene: ENSMUSG00000036304
AA Change: Y180C

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: Y180C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000128650
Gene: ENSMUSG00000036304
AA Change: Y180C

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: Y180C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000232055
AA Change: Y180C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.3%
Validation Efficiency 100% (54/54)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak2 T C 12: 112,748,936 (GRCm39) N304D probably benign Het
Akr7a5 T C 4: 139,038,333 (GRCm39) S90P probably damaging Het
Aplnr T A 2: 84,967,128 (GRCm39) V51E probably damaging Het
Arhgap21 A T 2: 20,884,848 (GRCm39) H776Q probably damaging Het
Asxl3 C G 18: 22,658,356 (GRCm39) A2122G possibly damaging Het
Bsn T A 9: 107,989,152 (GRCm39) Y2200F probably damaging Het
Btbd10 A T 7: 112,925,043 (GRCm39) D268E probably damaging Het
Cacna1h T C 17: 25,616,782 (GRCm39) N113D probably damaging Het
Cfap54 T C 10: 92,902,628 (GRCm39) N175D probably benign Het
Cfap61 A G 2: 145,943,956 (GRCm39) D134G probably damaging Het
Clybl A T 14: 122,616,701 (GRCm39) I239L possibly damaging Het
Defb11 A T 8: 22,396,352 (GRCm39) F15Y probably damaging Het
Dlc1 A G 8: 37,051,647 (GRCm39) S695P probably benign Het
Fbxl5 T C 5: 43,916,114 (GRCm39) K432E probably benign Het
Fryl T C 5: 73,215,098 (GRCm39) E2226G probably benign Het
Gm10337 T A 15: 102,412,306 (GRCm39) probably null Het
Gm5828 A G 1: 16,839,516 (GRCm39) noncoding transcript Het
Gm8674 A T 13: 50,053,870 (GRCm39) noncoding transcript Het
Ighv6-5 T C 12: 114,380,191 (GRCm39) probably null Het
Insyn2a A T 7: 134,520,284 (GRCm39) V82E probably benign Het
Ints14 C A 9: 64,871,694 (GRCm39) L11M probably damaging Het
Kcp G A 6: 29,492,107 (GRCm39) P153L probably benign Het
Lrrk2 A C 15: 91,649,993 (GRCm39) N1710T probably benign Het
Marchf10 T A 11: 105,280,933 (GRCm39) T451S possibly damaging Het
Mcf2l T G 8: 12,965,959 (GRCm39) probably benign Het
Mfng C T 15: 78,648,588 (GRCm39) R163H probably benign Het
Neurod2 T A 11: 98,218,063 (GRCm39) H367L possibly damaging Het
Nfatc4 A T 14: 56,069,875 (GRCm39) Q681L probably damaging Het
Nkx3-2 T C 5: 41,919,220 (GRCm39) N256S probably damaging Het
Ntng1 G A 3: 110,042,661 (GRCm39) T55M possibly damaging Het
Snd1 C A 6: 28,888,239 (GRCm39) N891K probably damaging Het
Syt7 T C 19: 10,420,222 (GRCm39) V382A possibly damaging Het
Trim72 T C 7: 127,609,139 (GRCm39) S314P possibly damaging Het
Ttc41 T C 10: 86,580,408 (GRCm39) S785P probably damaging Het
Ube2z C T 11: 95,953,835 (GRCm39) V128I probably benign Het
Vps26c T A 16: 94,327,263 (GRCm39) probably benign Het
Wdr43 T C 17: 71,933,849 (GRCm39) Y149H probably benign Het
Wnk4 T A 11: 101,153,682 (GRCm39) V248E probably damaging Het
Zcchc2 A T 1: 105,958,694 (GRCm39) N1055I probably damaging 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
R1367:Zdhhc23 UTSW 16 43,794,513 (GRCm39) missense probably benign 0.04
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
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'- CTTCCTTCACTTTGGCAGGG -3'
(R):5'- ATGCTGGCACTCTGGTATTAC -3'

Sequencing Primer
(F):5'- CACTTTGGCAGGGCTGTC -3'
(R):5'- GGTATTACTACCTCACTCACAGAAGG -3'
Posted On 2016-06-06