Incidental Mutation 'IGL01289:Zdhhc24'
ID72867
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zdhhc24
Ensembl Gene ENSMUSG00000006463
Gene Namezinc finger, DHHC domain containing 24
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01289
Quality Score
Status
Chromosome19
Chromosomal Location4878668-4885397 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 4878822 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Leucine at position 25 (W25L)
Ref Sequence ENSEMBL: ENSMUSP00000123709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006626] [ENSMUST00000006632] [ENSMUST00000160014] [ENSMUST00000162720]
Predicted Effect probably benign
Transcript: ENSMUST00000006626
SMART Domains Protein: ENSMUSP00000006626
Gene: ENSMUSG00000006457

DomainStartEndE-ValueType
low complexity region 8 30 N/A INTRINSIC
CH 46 146 1.4e-23 SMART
CH 159 258 4.83e-27 SMART
low complexity region 261 272 N/A INTRINSIC
Pfam:Spectrin 287 397 5.5e-15 PFAM
SPEC 410 511 3.78e-23 SMART
SPEC 525 632 2.37e-6 SMART
Pfam:Spectrin 643 746 4.1e-15 PFAM
EFh 763 791 7.93e-1 SMART
EFh 799 827 5.96e-1 SMART
efhand_Ca_insen 830 896 2.29e-34 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000006632
AA Change: W25L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000006632
Gene: ENSMUSG00000006463
AA Change: W25L

DomainStartEndE-ValueType
transmembrane domain 19 41 N/A INTRINSIC
transmembrane domain 51 73 N/A INTRINSIC
Pfam:zf-DHHC 91 234 4.3e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000160014
AA Change: W25L

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123709
Gene: ENSMUSG00000006463
AA Change: W25L

DomainStartEndE-ValueType
transmembrane domain 19 41 N/A INTRINSIC
transmembrane domain 51 73 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162088
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162134
Predicted Effect possibly damaging
Transcript: ENSMUST00000162720
AA Change: W25L

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124337
Gene: ENSMUSG00000006463
AA Change: W25L

DomainStartEndE-ValueType
transmembrane domain 19 41 N/A INTRINSIC
transmembrane domain 51 73 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162754
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested in a high-throughput screen. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T A 7: 131,138,621 M289L probably benign Het
Actg2 A T 6: 83,523,175 M38K probably damaging Het
Atp8a2 G A 14: 59,691,461 A1048V probably benign Het
Cables1 T C 18: 11,944,564 V583A probably damaging Het
Ccng2 A G 5: 93,273,417 K262R probably null Het
Cfap206 C A 4: 34,716,469 S332I probably null Het
Dscam A T 16: 96,643,882 Y1536* probably null Het
Fam136b-ps T A 15: 31,276,864 probably benign Het
Fga A G 3: 83,031,245 Y309C possibly damaging Het
Fgd4 A T 16: 16,484,303 N129K probably damaging Het
Gbp8 G A 5: 105,017,869 A306V probably benign Het
Hecw1 T C 13: 14,264,134 Y888C probably damaging Het
Herc6 G A 6: 57,598,623 G210R probably damaging Het
Ints7 G A 1: 191,615,778 R754H probably benign Het
Itga1 T C 13: 114,986,226 I731M possibly damaging Het
Itpr2 T A 6: 146,112,535 K2588* probably null Het
Itpr3 T A 17: 27,099,765 M965K probably damaging Het
Kif22 A G 7: 127,033,473 V247A probably damaging Het
Lrrc17 T C 5: 21,560,901 F127S probably damaging Het
Lrriq4 T A 3: 30,650,393 L190Q probably damaging Het
Mcee T A 7: 64,400,318 F66I probably damaging Het
Med23 T C 10: 24,902,121 F789S probably damaging Het
Nmd3 T G 3: 69,724,287 S25R possibly damaging Het
Npy5r T A 8: 66,681,866 N92Y possibly damaging Het
Olfr1241 A G 2: 89,482,847 M96T probably benign Het
Rnf224 G T 2: 25,236,247 D31E possibly damaging Het
Timd2 T C 11: 46,679,672 E192G probably benign Het
Ttll13 T A 7: 80,260,439 C777S probably benign Het
Tubgcp3 A G 8: 12,639,625 L547P probably damaging Het
Usp47 G T 7: 112,063,358 V236F probably damaging Het
Xirp2 A T 2: 67,513,181 N1922I probably damaging Het
Other mutations in Zdhhc24
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4283001:Zdhhc24 UTSW 19 4878750 start codon destroyed probably null 0.01
R0003:Zdhhc24 UTSW 19 4880374 missense possibly damaging 0.51
R1720:Zdhhc24 UTSW 19 4878951 missense probably damaging 0.99
R1780:Zdhhc24 UTSW 19 4883766 missense probably damaging 0.99
R5530:Zdhhc24 UTSW 19 4883563 splice site probably null
R5965:Zdhhc24 UTSW 19 4883750 missense probably benign 0.00
R7249:Zdhhc24 UTSW 19 4878861 missense possibly damaging 0.81
Posted On2013-10-07