Incidental Mutation 'IGL02301:Cd5l'
ID290300
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd5l
Ensembl Gene ENSMUSG00000015854
Gene NameCD5 antigen-like
SynonymsSp-alpha, Pdp 1/6, AAC-11, AIM/Spalpha, Api6
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02301
Quality Score
Status
Chromosome3
Chromosomal Location87357881-87371073 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 87365993 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 90 (R90G)
Ref Sequence ENSEMBL: ENSMUSP00000015998 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015998]
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: 32,332,926 probably benign Het
Alk T C 17: 71,874,176 Q1373R probably damaging Het
Atf7ip2 T G 16: 10,211,047 S148A probably benign Het
Bpi C T 2: 158,274,814 S377F probably damaging Het
Ccni A T 5: 93,188,175 C122S possibly damaging Het
Ceacam3 C T 7: 17,163,101 S664F probably damaging Het
Clca3a2 A T 3: 144,806,372 D534E probably damaging Het
Ep400 A T 5: 110,674,960 S2524R probably damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gart A G 16: 91,621,837 probably benign Het
Gm9513 T C 9: 36,477,187 probably benign Het
Gsdmc4 A G 15: 63,895,264 V219A probably benign Het
Hus1 T C 11: 8,996,915 T261A probably benign Het
Lman2l A G 1: 36,443,543 I84T probably damaging Het
Megf8 G A 7: 25,337,900 V742M probably damaging Het
Myo1d A G 11: 80,676,853 V267A probably benign Het
Notch2 A G 3: 98,141,554 T1803A probably benign Het
Olfr1278 T A 2: 111,292,697 M143K probably benign Het
Olfr23 T A 11: 73,941,068 M274K possibly damaging Het
Olfr814 A G 10: 129,874,079 F226S probably damaging Het
Pde5a G A 3: 122,760,885 R208Q probably damaging Het
Pla2r1 T C 2: 60,452,436 N745S probably benign Het
Ptgdr2 T A 19: 10,940,209 I30N possibly damaging Het
Rap1gap2 G A 11: 74,407,369 T415I probably damaging Het
Slc6a6 T C 6: 91,726,056 Y137H probably benign Het
Sptbn1 A T 11: 30,142,129 D532E probably damaging Het
Stk39 T C 2: 68,211,962 D543G probably damaging Het
Trpc4 G A 3: 54,291,232 V526M probably damaging Het
Trrap A G 5: 144,777,917 I100V probably benign Het
Vmn1r-ps123 A C 13: 22,996,357 noncoding transcript Het
Vwa5b2 G A 16: 20,604,790 G1151D probably damaging Het
Zfp358 T A 8: 3,496,858 I480N probably benign Het
Zfp423 T C 8: 87,781,574 D714G probably damaging Het
Other mutations in Cd5l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01992:Cd5l APN 3 87367811 missense probably benign 0.01
IGL02639:Cd5l APN 3 87368506 missense probably damaging 1.00
R1104:Cd5l UTSW 3 87360899 missense probably benign 0.06
R1763:Cd5l UTSW 3 87367880 critical splice donor site probably null
R1775:Cd5l UTSW 3 87368659 missense probably damaging 1.00
R4614:Cd5l UTSW 3 87368619 missense probably benign
R4618:Cd5l UTSW 3 87368619 missense probably benign
R4838:Cd5l UTSW 3 87365951 missense probably benign 0.41
R4871:Cd5l UTSW 3 87367622 missense probably damaging 1.00
R4980:Cd5l UTSW 3 87367601 missense probably benign 0.33
R5611:Cd5l UTSW 3 87367775 missense possibly damaging 0.64
R5632:Cd5l UTSW 3 87366107 nonsense probably null
R6261:Cd5l UTSW 3 87368608 missense probably benign 0.35
R7017:Cd5l UTSW 3 87366061 nonsense probably null
X0025:Cd5l UTSW 3 87368761 missense probably damaging 0.96
Posted On2015-04-16