Incidental Mutation 'IGL01419:Zdhhc6'
ID 80325
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 # IGL01419
Quality Score
Status
Chromosome 19
Chromosomal Location 55286648-55304468 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55298186 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 224 (F224L)
Ref Sequence ENSEMBL: ENSMUSP00000153404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076891] [ENSMUST00000223807] [ENSMUST00000224291] [ENSMUST00000224897] [ENSMUST00000225963] [ENSMUST00000226103] [ENSMUST00000225495]
AlphaFold Q9CPV7
Predicted Effect probably benign
Transcript: ENSMUST00000076891
AA Change: F224L

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000076157
Gene: ENSMUSG00000024982
AA Change: F224L

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 noncoding transcript
Transcript: ENSMUST00000223625
Predicted Effect probably benign
Transcript: ENSMUST00000223807
Predicted Effect probably benign
Transcript: ENSMUST00000224291
AA Change: F224L

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224474
Predicted Effect probably benign
Transcript: ENSMUST00000224897
AA Change: F224L

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000225963
AA Change: F224L

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000226103
AA Change: F224L

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000225495
AA Change: F224L

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A T 2: 25,327,526 (GRCm39) T672S probably damaging Het
Adamts14 A T 10: 61,041,321 (GRCm39) probably benign Het
Adgrv1 T C 13: 81,705,277 (GRCm39) E791G probably damaging Het
Alkbh8 A G 9: 3,385,354 (GRCm39) R584G probably damaging Het
Apob A T 12: 8,052,251 (GRCm39) I1218F probably damaging Het
Atp5f1a T C 18: 77,865,233 (GRCm39) S52P probably damaging Het
B4galnt3 A G 6: 120,192,351 (GRCm39) S462P possibly damaging Het
Bdkrb1 A G 12: 105,571,040 (GRCm39) H202R possibly damaging Het
Bltp1 T C 3: 37,102,270 (GRCm39) S1323P probably damaging Het
Cd300lf T C 11: 115,017,180 (GRCm39) K48E probably benign Het
Cfhr4 T C 1: 139,667,382 (GRCm39) probably null Het
Chuk A T 19: 44,085,420 (GRCm39) I242K probably damaging Het
Csde1 A G 3: 102,946,086 (GRCm39) T27A probably damaging Het
D930048N14Rik C T 11: 51,545,603 (GRCm39) probably benign Het
Depdc7 A T 2: 104,552,455 (GRCm39) Y451N possibly damaging Het
Diaph3 C A 14: 87,202,989 (GRCm39) G623* probably null Het
Dlc1 T C 8: 37,317,371 (GRCm39) T435A probably benign Het
Dock8 A G 19: 25,096,816 (GRCm39) S575G probably benign Het
Fbxw22 T A 9: 109,210,790 (GRCm39) Y407F probably benign Het
Fzd4 C A 7: 89,056,943 (GRCm39) A330E probably damaging Het
Gm17415 A G 1: 93,349,672 (GRCm39) probably benign Het
Gnat1 C T 9: 107,556,633 (GRCm39) probably null Het
Gtf3c4 T C 2: 28,725,081 (GRCm39) Y76C probably damaging Het
Heatr5b G A 17: 79,103,939 (GRCm39) H1079Y probably benign Het
Helz T G 11: 107,577,340 (GRCm39) I1897S unknown Het
Hspa12a T C 19: 58,816,681 (GRCm39) probably null Het
Kcne1 G T 16: 92,145,534 (GRCm39) F103L probably benign Het
Lrrc20 A T 10: 61,383,874 (GRCm39) S94C probably damaging Het
Lrrc8a A G 2: 30,147,111 (GRCm39) T642A probably benign Het
Ly6g5b A G 17: 35,333,494 (GRCm39) L106P probably benign Het
Lyst A G 13: 13,810,423 (GRCm39) S698G probably benign Het
Ndrg1 A G 15: 66,802,900 (GRCm39) V334A probably benign Het
Neb A T 2: 52,116,545 (GRCm39) Y964* probably null Het
Or4c123 T C 2: 89,126,689 (GRCm39) probably benign Het
Or8k3 A T 2: 86,058,973 (GRCm39) I114N possibly damaging Het
Parp10 A G 15: 76,125,588 (GRCm39) F497L probably damaging Het
Pdss1 A G 2: 22,825,589 (GRCm39) M343V possibly damaging Het
Phactr3 C T 2: 177,920,855 (GRCm39) T231I probably benign Het
Plekhh2 A T 17: 84,890,980 (GRCm39) probably benign Het
Ppp1r12c A C 7: 4,489,351 (GRCm39) probably null Het
Prdm2 G T 4: 142,860,218 (GRCm39) P1024H probably damaging Het
Prkacb A T 3: 146,461,448 (GRCm39) M1K probably null Het
Prkdc C A 16: 15,653,030 (GRCm39) P3835Q probably damaging Het
Rps27a T C 11: 29,496,353 (GRCm39) T87A probably benign Het
Ryr2 T A 13: 11,814,723 (GRCm39) E683V possibly damaging Het
Sbk2 A G 7: 4,960,528 (GRCm39) L214P probably damaging Het
Sema4g A G 19: 44,985,835 (GRCm39) S250G probably benign Het
Slc27a6 T A 18: 58,742,281 (GRCm39) D498E probably benign Het
Tarbp1 T C 8: 127,154,894 (GRCm39) D1410G probably benign Het
Tas2r134 T A 2: 51,517,759 (GRCm39) Y79* probably null Het
Tie1 T C 4: 118,333,295 (GRCm39) D857G probably damaging Het
Tnk2 A G 16: 32,499,498 (GRCm39) N432S probably damaging Het
Tubg2 C A 11: 101,049,883 (GRCm39) D176E probably benign Het
Ugt2b34 A T 5: 87,039,264 (GRCm39) W466R probably damaging Het
Usp47 T A 7: 111,687,118 (GRCm39) M692K possibly damaging Het
Vmn2r106 T C 17: 20,499,807 (GRCm39) K143E probably benign Het
Vmn2r118 G A 17: 55,900,000 (GRCm39) L635F probably benign Het
Vmn2r16 C T 5: 109,510,267 (GRCm39) probably benign Het
Vmn2r76 A T 7: 85,874,910 (GRCm39) M689K probably benign Het
Xkr6 T C 14: 64,056,325 (GRCm39) Y79H probably benign Het
Zfp493 T G 13: 67,934,921 (GRCm39) I291M probably benign Het
Other mutations in Zdhhc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01394:Zdhhc6 APN 19 55,298,324 (GRCm39) missense probably benign 0.19
IGL02598:Zdhhc6 APN 19 55,302,959 (GRCm39) missense probably benign 0.31
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 2013-11-05