Incidental Mutation 'IGL02598:Zdhhc6'
ID 299929
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zdhhc6
Ensembl Gene ENSMUSG00000024982
Gene Name zinc finger, DHHC domain containing 6
Synonyms 5930409M18Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02598
Quality Score
Status
Chromosome 19
Chromosomal Location 55286648-55304468 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 55302959 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 14 (Q14L)
Ref Sequence ENSEMBL: ENSMUSP00000153697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076891] [ENSMUST00000095950] [ENSMUST00000223690] [ENSMUST00000223807] [ENSMUST00000224291] [ENSMUST00000225963] [ENSMUST00000225495] [ENSMUST00000226103] [ENSMUST00000224897] [ENSMUST00000225529]
AlphaFold Q9CPV7
Predicted Effect probably benign
Transcript: ENSMUST00000076891
AA Change: Q14L

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000076157
Gene: ENSMUSG00000024982
AA Change: Q14L

DomainStartEndE-ValueType
transmembrane domain 19 41 N/A INTRINSIC
transmembrane domain 51 73 N/A INTRINSIC
Pfam:zf-DHHC 94 244 3.2e-38 PFAM
SH3 316 397 5.84e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000095950
SMART Domains Protein: ENSMUSP00000093644
Gene: ENSMUSG00000024983

DomainStartEndE-ValueType
Pfam:V-SNARE 12 90 7.3e-29 PFAM
t_SNARE 117 184 4.61e-10 SMART
low complexity region 193 211 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223625
Predicted Effect probably benign
Transcript: ENSMUST00000223690
Predicted Effect probably benign
Transcript: ENSMUST00000223807
AA Change: Q14L

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000224291
AA Change: Q14L

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000225963
AA Change: Q14L

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000225495
AA Change: Q14L

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000226103
AA Change: Q14L

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000224897
AA Change: Q14L

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000225529
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225392
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224474
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225051
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226069
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933414I15Rik A T 11: 50,834,448 (GRCm39) M1K probably null Het
Abca13 C T 11: 9,381,898 (GRCm39) T3850I probably damaging Het
Abcc4 A T 14: 118,905,781 (GRCm39) L95* probably null Het
Acacb A G 5: 114,384,098 (GRCm39) Y2209C probably damaging Het
Acadm A G 3: 153,644,181 (GRCm39) probably benign Het
Arid2 G A 15: 96,269,417 (GRCm39) V1177M probably damaging Het
Atp8a1 A T 5: 67,840,099 (GRCm39) probably null Het
Catsperd A G 17: 56,954,815 (GRCm39) probably null Het
Cd28 A G 1: 60,802,498 (GRCm39) probably benign Het
Cep164 A G 9: 45,682,002 (GRCm39) Y1934H probably damaging Het
Cep350 T C 1: 155,738,713 (GRCm39) I2377V probably benign Het
Csmd3 T C 15: 47,533,086 (GRCm39) K1581E probably damaging Het
Dab2 A T 15: 6,458,847 (GRCm39) N232I probably damaging Het
Dyrk4 G A 6: 126,860,982 (GRCm39) probably benign Het
Efcab14 T A 4: 115,597,631 (GRCm39) C75* probably null Het
Elovl1 T C 4: 118,288,616 (GRCm39) probably null Het
Eps8l2 T G 7: 140,934,849 (GRCm39) probably benign Het
Grik1 A T 16: 87,744,872 (GRCm39) V460E probably damaging Het
Gtf2f2 A G 14: 76,245,182 (GRCm39) S35P probably benign Het
Ifi203 A G 1: 173,762,568 (GRCm39) probably benign Het
Ifi209 T C 1: 173,472,281 (GRCm39) V374A probably damaging Het
Kics2 G A 10: 121,575,876 (GRCm39) probably benign Het
Lars1 A G 18: 42,360,342 (GRCm39) S705P possibly damaging Het
Lcmt1 A G 7: 123,020,871 (GRCm39) probably benign Het
Limd1 T C 9: 123,345,933 (GRCm39) S571P probably benign Het
Limd1 T A 9: 123,309,236 (GRCm39) Y312N probably benign Het
Lin28b A T 10: 45,296,622 (GRCm39) D125E possibly damaging Het
Lmtk3 T C 7: 45,442,564 (GRCm39) S416P probably damaging Het
Map7d3 T C X: 55,855,146 (GRCm39) T446A probably benign Het
Masp1 T A 16: 23,278,381 (GRCm39) M523L probably benign Het
Mroh4 C A 15: 74,483,092 (GRCm39) probably null Het
Mtmr6 G A 14: 60,537,953 (GRCm39) A651T probably damaging Het
Myocd A G 11: 65,074,296 (GRCm39) S738P probably benign Het
Or10a2 A T 7: 106,673,923 (GRCm39) N296I possibly damaging Het
Or4d5 A T 9: 40,011,861 (GRCm39) F308L probably benign Het
Or52l1 A G 7: 104,830,163 (GRCm39) V134A probably damaging Het
Or5d46 A T 2: 88,170,595 (GRCm39) I229F possibly damaging Het
Or6c3b A T 10: 129,527,142 (GRCm39) I256N possibly damaging Het
Parg G T 14: 31,936,281 (GRCm39) V479L probably damaging Het
Pcdhb10 C A 18: 37,546,834 (GRCm39) H637N possibly damaging Het
Plekhg2 G A 7: 28,059,900 (GRCm39) T1118I possibly damaging Het
Podxl T C 6: 31,501,355 (GRCm39) E400G probably damaging Het
Prss54 C A 8: 96,292,337 (GRCm39) V81F probably damaging Het
Pzp A G 6: 128,464,420 (GRCm39) L1369P probably benign Het
Rfx8 A T 1: 39,735,128 (GRCm39) probably benign Het
Rgs6 C T 12: 83,138,571 (GRCm39) P302S probably benign Het
Rnf148 A C 6: 23,654,456 (GRCm39) I180S probably damaging Het
Sacm1l A G 9: 123,408,061 (GRCm39) D350G probably benign Het
Slc33a1 C T 3: 63,850,753 (GRCm39) G524S probably benign Het
Slc5a7 A G 17: 54,591,221 (GRCm39) V237A probably benign Het
Spink7 T C 18: 62,727,356 (GRCm39) D56G probably damaging Het
Syn3 A G 10: 86,303,063 (GRCm39) S31P probably damaging Het
Tesl1 A T X: 23,773,710 (GRCm39) T404S probably benign Het
Thrb C A 14: 18,008,606 (GRCm38) P110Q possibly damaging Het
Vmn2r76 G T 7: 85,877,879 (GRCm39) T506K probably benign Het
Vps45 A G 3: 95,938,354 (GRCm39) L486P probably benign Het
Zan G A 5: 137,444,473 (GRCm39) T1823M unknown Het
Zfp990 A T 4: 145,263,533 (GRCm39) N177I possibly damaging Het
Other mutations in Zdhhc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01394:Zdhhc6 APN 19 55,298,324 (GRCm39) missense probably benign 0.19
IGL01419:Zdhhc6 APN 19 55,298,186 (GRCm39) missense probably benign 0.09
Chalcogenide UTSW 19 55,300,133 (GRCm39) missense probably damaging 1.00
pegmatite UTSW 19 55,292,871 (GRCm39) nonsense probably null
telluride UTSW 19 55,302,998 (GRCm39) start codon destroyed probably null 1.00
R0267:Zdhhc6 UTSW 19 55,297,362 (GRCm39) missense probably benign 0.17
R0920:Zdhhc6 UTSW 19 55,300,133 (GRCm39) missense probably damaging 1.00
R2143:Zdhhc6 UTSW 19 55,287,228 (GRCm39) missense probably benign
R4445:Zdhhc6 UTSW 19 55,291,169 (GRCm39) missense probably benign 0.31
R4446:Zdhhc6 UTSW 19 55,291,169 (GRCm39) missense probably benign 0.31
R4632:Zdhhc6 UTSW 19 55,302,741 (GRCm39) missense probably damaging 1.00
R4921:Zdhhc6 UTSW 19 55,301,642 (GRCm39) missense probably damaging 0.96
R5144:Zdhhc6 UTSW 19 55,302,998 (GRCm39) start codon destroyed probably null 1.00
R7067:Zdhhc6 UTSW 19 55,292,871 (GRCm39) nonsense probably null
R7266:Zdhhc6 UTSW 19 55,292,932 (GRCm39) missense probably damaging 1.00
R7307:Zdhhc6 UTSW 19 55,301,682 (GRCm39) missense probably damaging 1.00
R7326:Zdhhc6 UTSW 19 55,291,187 (GRCm39) missense possibly damaging 0.88
R8425:Zdhhc6 UTSW 19 55,302,876 (GRCm39) missense probably benign 0.01
R8889:Zdhhc6 UTSW 19 55,290,987 (GRCm39) splice site probably benign
R8892:Zdhhc6 UTSW 19 55,290,987 (GRCm39) splice site probably benign
R8962:Zdhhc6 UTSW 19 55,287,239 (GRCm39) missense probably benign
R9015:Zdhhc6 UTSW 19 55,287,318 (GRCm39) missense probably benign
R9128:Zdhhc6 UTSW 19 55,301,680 (GRCm39) nonsense probably null
R9785:Zdhhc6 UTSW 19 55,300,203 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16