Incidental Mutation 'IGL01668:Clba1'
ID 103370
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clba1
Ensembl Gene ENSMUSG00000037594
Gene Name clathrin binding box of aftiphilin containing 1
Synonyms C130001I08Rik, BC022687, Flj20080
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # IGL01668
Quality Score
Status
Chromosome 12
Chromosomal Location 112772595-112779865 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 112773264 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 86 (S86P)
Ref Sequence ENSEMBL: ENSMUSP00000137263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037014] [ENSMUST00000177808]
AlphaFold Q8BHN9
Predicted Effect probably damaging
Transcript: ENSMUST00000037014
AA Change: S86P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000038002
Gene: ENSMUSG00000037594
AA Change: S86P

DomainStartEndE-ValueType
Pfam:Clathrin_bdg 189 268 3.1e-40 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000177808
AA Change: S86P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000137263
Gene: ENSMUSG00000037594
AA Change: S86P

DomainStartEndE-ValueType
Pfam:Clathrin_bdg 188 268 3.8e-34 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3d1 A G 10: 80,554,993 (GRCm39) V444A possibly damaging Het
Chd9 A T 8: 91,753,404 (GRCm39) H1799L possibly damaging Het
Cic C T 7: 24,990,629 (GRCm39) P1108S possibly damaging Het
Cldn16 T A 16: 26,301,296 (GRCm39) Y201* probably null Het
Col6a6 C A 9: 105,586,470 (GRCm39) R1850S probably damaging Het
Cryge A G 1: 65,087,857 (GRCm39) Y151H probably damaging Het
Dhcr7 T A 7: 143,397,048 (GRCm39) V180D probably damaging Het
Dmwd C T 7: 18,815,080 (GRCm39) R577W probably damaging Het
Gm5884 A G 6: 128,622,377 (GRCm39) noncoding transcript Het
Gm5901 C T 7: 105,026,771 (GRCm39) R180C probably benign Het
Hook2 A T 8: 85,720,207 (GRCm39) Y131F possibly damaging Het
Hsf1 T C 15: 76,381,162 (GRCm39) probably null Het
Ighv1-62-3 A G 12: 115,424,613 (GRCm39) probably benign Het
Ikbke T G 1: 131,184,675 (GRCm39) D666A probably benign Het
Il1r1 C T 1: 40,352,489 (GRCm39) T556I probably benign Het
Larp4 T C 15: 99,885,355 (GRCm39) S69P probably damaging Het
Lrrc27 G T 7: 138,807,827 (GRCm39) probably benign Het
Marchf2 A C 17: 33,922,070 (GRCm39) W97G probably damaging Het
Or4c10b C A 2: 89,711,443 (GRCm39) P91Q probably benign Het
Or5b21 A G 19: 12,839,231 (GRCm39) I31V probably benign Het
Or8k28 A G 2: 86,285,746 (GRCm39) Y290H probably damaging Het
Pah T A 10: 87,414,123 (GRCm39) I324N probably damaging Het
Pcdhb7 A G 18: 37,476,205 (GRCm39) E447G probably benign Het
Prex2 T C 1: 11,223,869 (GRCm39) V731A probably benign Het
Prpsap2 A G 11: 61,646,277 (GRCm39) V44A probably benign Het
Rp1 T C 1: 4,415,941 (GRCm39) N1724D probably damaging Het
Sap130 A G 18: 31,813,493 (GRCm39) N517D probably damaging Het
Slc13a3 A C 2: 165,272,212 (GRCm39) F277C probably damaging Het
Snx19 A G 9: 30,339,119 (GRCm39) T86A probably benign Het
Tbc1d32 A T 10: 55,999,673 (GRCm39) V833D probably benign Het
Washc2 A G 6: 116,239,299 (GRCm39) D1290G probably damaging Het
Wdr87-ps G A 7: 29,236,855 (GRCm39) noncoding transcript Het
Other mutations in Clba1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01813:Clba1 APN 12 112,779,179 (GRCm39) missense probably damaging 1.00
IGL03090:Clba1 APN 12 112,779,340 (GRCm39) splice site probably null
IGL03225:Clba1 APN 12 112,779,211 (GRCm39) missense probably damaging 0.98
R1239:Clba1 UTSW 12 112,773,123 (GRCm39) missense probably benign 0.15
R6123:Clba1 UTSW 12 112,774,530 (GRCm39) missense probably damaging 0.99
R6756:Clba1 UTSW 12 112,775,820 (GRCm39) missense probably damaging 0.99
R6975:Clba1 UTSW 12 112,773,217 (GRCm39) missense possibly damaging 0.93
R7211:Clba1 UTSW 12 112,774,632 (GRCm39) critical splice donor site probably null
R8912:Clba1 UTSW 12 112,779,323 (GRCm39) missense possibly damaging 0.59
R9337:Clba1 UTSW 12 112,775,898 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21