Incidental Mutation 'IGL02746:Adck5'
ID306046
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adck5
Ensembl Gene ENSMUSG00000022550
Gene NameaarF domain containing kinase 5
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.312) question?
Stock #IGL02746
Quality Score
Status
Chromosome15
Chromosomal Location76576358-76595816 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 76589154 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 68 (M68L)
Ref Sequence ENSEMBL: ENSMUSP00000125482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160784] [ENSMUST00000161612] [ENSMUST00000161732] [ENSMUST00000162503]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159005
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159949
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160296
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160410
Predicted Effect probably benign
Transcript: ENSMUST00000160784
AA Change: M68L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000124666
Gene: ENSMUSG00000022550
AA Change: M68L

DomainStartEndE-ValueType
transmembrane domain 50 69 N/A INTRINSIC
Pfam:ABC1 188 304 9.2e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161311
Predicted Effect probably benign
Transcript: ENSMUST00000161612
AA Change: M68L

PolyPhen 2 Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000124701
Gene: ENSMUSG00000022550
AA Change: M68L

DomainStartEndE-ValueType
transmembrane domain 50 69 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161732
AA Change: M68L

PolyPhen 2 Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000125482
Gene: ENSMUSG00000022550
AA Change: M68L

DomainStartEndE-ValueType
transmembrane domain 50 69 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161783
Predicted Effect probably benign
Transcript: ENSMUST00000162503
AA Change: M68L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000125055
Gene: ENSMUSG00000022550
AA Change: M68L

DomainStartEndE-ValueType
transmembrane domain 50 69 N/A INTRINSIC
Pfam:ABC1 188 304 2.3e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229007
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230081
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m G A 6: 121,669,503 probably benign Het
Aox3 T C 1: 58,183,542 S1165P possibly damaging Het
Arhgap23 A G 11: 97,454,204 probably benign Het
Brdt T C 5: 107,370,324 L771P probably benign Het
Ccdc134 T A 15: 82,131,737 probably benign Het
Cdc42bpa T A 1: 180,111,747 D41E possibly damaging Het
Cdkn2aipnl A G 11: 51,970,220 T106A probably damaging Het
Cox10 G A 11: 63,964,531 probably benign Het
Cubn C A 2: 13,445,040 C891F probably damaging Het
Cyb5rl A G 4: 107,068,639 E6G probably benign Het
Dhrs2 T C 14: 55,241,171 S258P probably damaging Het
Dnah10 T C 5: 124,730,086 L145P possibly damaging Het
Epc1 A G 18: 6,454,317 I129T probably benign Het
Gkn3 A G 6: 87,387,357 probably benign Het
Gls2 A G 10: 128,200,956 D202G probably damaging Het
Golph3 C T 15: 12,349,415 R174W probably damaging Het
Gpatch4 A C 3: 88,054,391 E119A possibly damaging Het
Hemgn A G 4: 46,400,740 L40P probably damaging Het
Ifi27l2b A T 12: 103,451,234 D231E unknown Het
Klf12 T C 14: 99,900,220 I297V probably benign Het
Lzts3 T C 2: 130,636,341 N165S probably damaging Het
Nlrp4e G A 7: 23,321,839 V584I probably benign Het
Npas4 T C 19: 4,986,667 T490A probably damaging Het
Pikfyve C A 1: 65,234,272 H615Q probably damaging Het
Plce1 T A 19: 38,698,472 L608Q probably damaging Het
Pou2f3 T G 9: 43,146,846 Q67H probably benign Het
Rev3l T C 10: 39,824,589 L1694P probably damaging Het
RP24-77E13.10 A G 7: 7,240,179 F24S probably damaging Het
Rpl4 A G 9: 64,175,650 T117A probably benign Het
Scn5a T C 9: 119,550,637 N194D probably damaging Het
Sec16b T A 1: 157,546,289 probably benign Het
Slc12a5 A T 2: 164,974,916 M97L probably benign Het
Stard13 A G 5: 151,046,857 probably benign Het
Stau1 A C 2: 166,954,898 probably null Het
Thg1l A T 11: 45,948,227 C219* probably null Het
Togaram1 G T 12: 64,966,496 E174* probably null Het
Vmn1r237 T C 17: 21,314,218 S68P possibly damaging Het
Vmn2r3 A T 3: 64,259,818 S631T possibly damaging Het
Other mutations in Adck5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00742:Adck5 APN 15 76589100 missense possibly damaging 0.59
IGL01366:Adck5 APN 15 76595616 makesense probably null
IGL01534:Adck5 APN 15 76594726 missense probably damaging 1.00
IGL02066:Adck5 APN 15 76595206 missense probably damaging 0.96
IGL02615:Adck5 APN 15 76589167 missense possibly damaging 0.69
R0865:Adck5 UTSW 15 76595643 missense probably damaging 0.98
R0946:Adck5 UTSW 15 76593286 missense possibly damaging 0.82
R3714:Adck5 UTSW 15 76593938 missense probably damaging 1.00
R3945:Adck5 UTSW 15 76595200 missense probably damaging 1.00
R4373:Adck5 UTSW 15 76594335 unclassified probably benign
R4377:Adck5 UTSW 15 76594335 unclassified probably benign
R5343:Adck5 UTSW 15 76595580 missense probably damaging 0.98
R5372:Adck5 UTSW 15 76594507 unclassified probably benign
R5890:Adck5 UTSW 15 76593585 missense probably damaging 1.00
R6151:Adck5 UTSW 15 76594687 missense possibly damaging 0.81
R6277:Adck5 UTSW 15 76593263 missense possibly damaging 0.58
R6530:Adck5 UTSW 15 76593847 missense probably benign 0.00
X0013:Adck5 UTSW 15 76595342 missense possibly damaging 0.63
Posted On2015-04-16