Incidental Mutation 'IGL02301:Cd5l'
ID 290300
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd5l
Ensembl Gene ENSMUSG00000015854
Gene Name CD5 antigen-like
Synonyms AIM, AIM/Spalpha, Sp-alpha, Pdp 1/6, Api6, AAC-11
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02301
Quality Score
Status
Chromosome 3
Chromosomal Location 87265188-87278380 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87273300 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 90 (R90G)
Ref Sequence ENSEMBL: ENSMUSP00000015998 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015998]
AlphaFold Q9QWK4
Predicted Effect probably benign
Transcript: ENSMUST00000015998
AA Change: R90G

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000015998
Gene: ENSMUSG00000015854
AA Change: R90G

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SR 27 128 3.42e-41 SMART
SR 141 241 3.56e-39 SMART
SR 246 348 2.78e-50 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice exhibit enhanced and prolonged bacterial-induced granuloma formation and increased apoptosis of NKT and T cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap8l A G 17: 32,551,900 (GRCm39) probably benign Het
Alk T C 17: 72,181,171 (GRCm39) Q1373R probably damaging Het
Atf7ip2 T G 16: 10,028,911 (GRCm39) S148A probably benign Het
Bpi C T 2: 158,116,734 (GRCm39) S377F probably damaging Het
Ccni A T 5: 93,336,034 (GRCm39) C122S possibly damaging Het
Ceacam3 C T 7: 16,897,026 (GRCm39) S664F probably damaging Het
Clca3a2 A T 3: 144,512,133 (GRCm39) D534E probably damaging Het
Ep400 A T 5: 110,822,826 (GRCm39) S2524R probably damaging Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Gart A G 16: 91,418,725 (GRCm39) probably benign Het
Gsdmc4 A G 15: 63,767,113 (GRCm39) V219A probably benign Het
Hus1 T C 11: 8,946,915 (GRCm39) T261A probably benign Het
Lman2l A G 1: 36,482,624 (GRCm39) I84T probably damaging Het
Megf8 G A 7: 25,037,325 (GRCm39) V742M probably damaging Het
Myo1d A G 11: 80,567,679 (GRCm39) V267A probably benign Het
Notch2 A G 3: 98,048,870 (GRCm39) T1803A probably benign Het
Or1e17 T A 11: 73,831,894 (GRCm39) M274K possibly damaging Het
Or4f54 T A 2: 111,123,042 (GRCm39) M143K probably benign Het
Or6c70 A G 10: 129,709,948 (GRCm39) F226S probably damaging Het
Pate11 T C 9: 36,388,483 (GRCm39) probably benign Het
Pde5a G A 3: 122,554,534 (GRCm39) R208Q probably damaging Het
Pla2r1 T C 2: 60,282,780 (GRCm39) N745S probably benign Het
Ptgdr2 T A 19: 10,917,573 (GRCm39) I30N possibly damaging Het
Rap1gap2 G A 11: 74,298,195 (GRCm39) T415I probably damaging Het
Slc6a6 T C 6: 91,703,037 (GRCm39) Y137H probably benign Het
Sptbn1 A T 11: 30,092,129 (GRCm39) D532E probably damaging Het
Stk39 T C 2: 68,042,306 (GRCm39) D543G probably damaging Het
Trpc4 G A 3: 54,198,653 (GRCm39) V526M probably damaging Het
Trrap A G 5: 144,714,727 (GRCm39) I100V probably benign Het
Vmn1r-ps123 A C 13: 23,180,527 (GRCm39) noncoding transcript Het
Vwa5b2 G A 16: 20,423,540 (GRCm39) G1151D probably damaging Het
Zfp358 T A 8: 3,546,858 (GRCm39) I480N probably benign Het
Zfp423 T C 8: 88,508,202 (GRCm39) D714G probably damaging Het
Other mutations in Cd5l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01992:Cd5l APN 3 87,275,118 (GRCm39) missense probably benign 0.01
IGL02639:Cd5l APN 3 87,275,813 (GRCm39) missense probably damaging 1.00
R1104:Cd5l UTSW 3 87,268,206 (GRCm39) missense probably benign 0.06
R1763:Cd5l UTSW 3 87,275,187 (GRCm39) critical splice donor site probably null
R1775:Cd5l UTSW 3 87,275,966 (GRCm39) missense probably damaging 1.00
R4614:Cd5l UTSW 3 87,275,926 (GRCm39) missense probably benign
R4618:Cd5l UTSW 3 87,275,926 (GRCm39) missense probably benign
R4838:Cd5l UTSW 3 87,273,258 (GRCm39) missense probably benign 0.41
R4871:Cd5l UTSW 3 87,274,929 (GRCm39) missense probably damaging 1.00
R4980:Cd5l UTSW 3 87,274,908 (GRCm39) missense probably benign 0.33
R5611:Cd5l UTSW 3 87,275,082 (GRCm39) missense possibly damaging 0.64
R5632:Cd5l UTSW 3 87,273,414 (GRCm39) nonsense probably null
R6261:Cd5l UTSW 3 87,275,915 (GRCm39) missense probably benign 0.35
R7017:Cd5l UTSW 3 87,273,368 (GRCm39) nonsense probably null
R7727:Cd5l UTSW 3 87,275,162 (GRCm39) nonsense probably null
R8034:Cd5l UTSW 3 87,273,271 (GRCm39) missense possibly damaging 0.79
R8900:Cd5l UTSW 3 87,274,882 (GRCm39) missense probably benign
R9008:Cd5l UTSW 3 87,275,972 (GRCm39) missense probably damaging 1.00
R9163:Cd5l UTSW 3 87,274,932 (GRCm39) missense probably benign 0.19
R9546:Cd5l UTSW 3 87,268,201 (GRCm39) missense probably benign 0.00
R9747:Cd5l UTSW 3 87,275,104 (GRCm39) missense probably benign 0.00
X0025:Cd5l UTSW 3 87,276,068 (GRCm39) missense probably damaging 0.96
Posted On 2015-04-16