Incidental Mutation 'IGL01366:Adck5'
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ID75929
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: 0.333) question?
Stock #IGL01366
Quality Score
Status
Chromosome15
Chromosomal Location76576358-76595816 bp(+) (GRCm38)
Type of Mutationmakesense
DNA Base Change (assembly) A to C at 76595616 bp
ZygosityHeterozygous
Amino Acid Change Stop codon to Cysteine at position 568 (*568C)
Ref Sequence ENSEMBL: ENSMUSP00000124666 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071898] [ENSMUST00000160784] [ENSMUST00000161612] [ENSMUST00000161732] [ENSMUST00000162503] [ENSMUST00000230157] [ENSMUST00000231042]
Predicted Effect probably benign
Transcript: ENSMUST00000071898
SMART Domains Protein: ENSMUSP00000071794
Gene: ENSMUSG00000034022

DomainStartEndE-ValueType
Pfam:MMS1_N 92 684 7.2e-42 PFAM
low complexity region 902 910 N/A INTRINSIC
Pfam:CPSF_A 1071 1407 4.9e-94 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159005
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159049
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159949
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160094
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160410
Predicted Effect probably null
Transcript: ENSMUST00000160784
AA Change: *568C
SMART Domains Protein: ENSMUSP00000124666
Gene: ENSMUSG00000022550
AA Change: *568C

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
SMART Domains Protein: ENSMUSP00000124701
Gene: ENSMUSG00000022550

DomainStartEndE-ValueType
transmembrane domain 50 69 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161732
SMART Domains Protein: ENSMUSP00000125482
Gene: ENSMUSG00000022550

DomainStartEndE-ValueType
transmembrane domain 50 69 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161783
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162139
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162254
Predicted Effect probably benign
Transcript: ENSMUST00000162503
AA Change: E572A

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000125055
Gene: ENSMUSG00000022550
AA Change: E572A

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: ENSMUST00000229269
Predicted Effect probably benign
Transcript: ENSMUST00000229287
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229367
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229437
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229504
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229798
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229982
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230081
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230149
Predicted Effect probably benign
Transcript: ENSMUST00000230157
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230822
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230903
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231009
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231037
Predicted Effect probably benign
Transcript: ENSMUST00000231042
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231191
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik A T 4: 73,950,700 probably benign Het
Adamts2 T C 11: 50,796,468 Y1041H probably damaging Het
AK157302 T A 13: 21,495,301 probably benign Het
Bmpr2 G T 1: 59,813,677 G56W probably damaging Het
Capn11 A C 17: 45,653,200 I146S probably damaging Het
Ccdc162 A T 10: 41,580,306 D1613E possibly damaging Het
Ccdc167 T C 17: 29,705,312 E50G probably damaging Het
Col5a2 G T 1: 45,391,888 P864Q possibly damaging Het
Col7a1 C T 9: 108,977,119 probably benign Het
Crebbp T A 16: 4,126,506 H556L probably damaging Het
Dcpp1 T A 17: 23,882,736 I153N possibly damaging Het
Dgke C T 11: 89,055,386 R196H probably benign Het
Efr3a T A 15: 65,851,150 I459K probably benign Het
Espl1 T A 15: 102,319,836 C1682S probably benign Het
Exosc3 C T 4: 45,317,747 R185H probably damaging Het
Fam160b2 G A 14: 70,585,373 R688C probably damaging Het
Fgd6 T C 10: 94,043,476 V64A possibly damaging Het
Gata3 A G 2: 9,877,465 L42P probably damaging Het
Ggta1 C A 2: 35,402,450 E282* probably null Het
Ghr T C 15: 3,320,187 D503G probably damaging Het
Gls C T 1: 52,168,399 G602D probably damaging Het
Gm2058 A G 7: 39,589,234 noncoding transcript Het
Grb7 T C 11: 98,452,274 probably benign Het
Ifngr1 A T 10: 19,609,600 H449L probably damaging Het
Ighg2b T G 12: 113,307,036 D158A possibly damaging Het
Nphs2 T C 1: 156,311,035 V83A probably benign Het
Parp6 T A 9: 59,636,713 M390K possibly damaging Het
Pask T C 1: 93,310,852 K1304E probably benign Het
Scai A G 2: 39,106,961 S274P probably benign Het
Sik2 A G 9: 50,907,463 S404P probably damaging Het
Slc7a8 A T 14: 54,781,188 I47N probably damaging Het
Tas2r113 A T 6: 132,893,797 I263F probably benign Het
Tdrd1 T A 19: 56,855,302 D737E probably benign Het
Trio T C 15: 27,732,868 T2976A possibly damaging Het
Ttc28 T C 5: 111,085,171 probably null Het
Vmn1r21 A G 6: 57,843,814 I215T probably benign Het
Other mutations in Adck5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00742:Adck5 APN 15 76589100 missense possibly damaging 0.59
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
IGL02746:Adck5 APN 15 76589154 missense probably benign 0.26
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 On2013-10-07