Incidental Mutation 'IGL01998:Cab39l'
ID 182936
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cab39l
Ensembl Gene ENSMUSG00000021981
Gene Name calcium binding protein 39-like
Synonyms 2810425O13Rik, MO2L, 4930520C08Rik, 1500031K13Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01998
Quality Score
Status
Chromosome 14
Chromosomal Location 59678400-59786353 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 59734344 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 21 (L21Q)
Ref Sequence ENSEMBL: ENSMUSP00000153281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022553] [ENSMUST00000223678] [ENSMUST00000224893] [ENSMUST00000225595]
AlphaFold Q9DB16
Predicted Effect probably damaging
Transcript: ENSMUST00000022553
AA Change: L21Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022553
Gene: ENSMUSG00000021981
AA Change: L21Q

DomainStartEndE-ValueType
Pfam:Mo25 5 333 1.1e-142 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000223678
AA Change: L21Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224281
Predicted Effect probably damaging
Transcript: ENSMUST00000224893
AA Change: L21Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000225595
AA Change: L21Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arpc3 T C 5: 122,541,470 (GRCm39) C78R probably damaging Het
Atp6v0b A G 4: 117,743,263 (GRCm39) probably null Het
B3gnt8 A G 7: 25,328,203 (GRCm39) Y211C probably damaging Het
Birc6 T C 17: 74,886,880 (GRCm39) I736T probably benign Het
Bltp1 T C 3: 37,011,165 (GRCm39) S1788P possibly damaging Het
Bpifb9a T C 2: 154,110,120 (GRCm39) probably null Het
C3ar1 A T 6: 122,827,899 (GRCm39) M106K probably damaging Het
C9orf72 A T 4: 35,194,179 (GRCm39) D205E probably benign Het
Casp1 A T 9: 5,303,043 (GRCm39) I166F probably damaging Het
Cd180 A G 13: 102,841,722 (GRCm39) E256G probably damaging Het
Clca4a T C 3: 144,663,887 (GRCm39) T519A probably damaging Het
Clstn3 A T 6: 124,435,622 (GRCm39) L233Q probably damaging Het
Crlf3 G A 11: 79,948,845 (GRCm39) probably benign Het
Depdc5 T C 5: 33,102,495 (GRCm39) probably benign Het
Drc7 T A 8: 95,785,821 (GRCm39) C226S probably damaging Het
Epha5 T A 5: 84,232,593 (GRCm39) D807V probably damaging Het
Fat2 A G 11: 55,187,021 (GRCm39) L1275P probably benign Het
Fv1 T C 4: 147,953,784 (GRCm39) C117R possibly damaging Het
Ighg2b C A 12: 113,270,709 (GRCm39) M140I unknown Het
Klra5 A T 6: 129,883,676 (GRCm39) Y60* probably null Het
Lmtk2 C T 5: 144,112,883 (GRCm39) T1201I probably damaging Het
Ncapd2 A T 6: 125,150,078 (GRCm39) S917T probably benign Het
Ncapd2 A T 6: 125,146,896 (GRCm39) L1230H probably damaging Het
Nfx1 T A 4: 41,004,353 (GRCm39) I708N probably damaging Het
Notch2 A T 3: 98,050,422 (GRCm39) D1899V probably damaging Het
Npepl1 T A 2: 173,957,993 (GRCm39) probably benign Het
Nps T A 7: 134,870,481 (GRCm39) probably benign Het
Nrg1 T C 8: 32,408,162 (GRCm39) S24G probably damaging Het
Or1j20 A G 2: 36,759,658 (GRCm39) N27D probably benign Het
Or2ag16 G A 7: 106,351,758 (GRCm39) T279M possibly damaging Het
Or2t48 A T 11: 58,420,403 (GRCm39) Y136* probably null Het
Or4k2 C A 14: 50,424,105 (GRCm39) V190L probably benign Het
Pigx G T 16: 31,903,428 (GRCm39) T211K probably benign Het
Pink1 A G 4: 138,048,053 (GRCm39) I223T probably damaging Het
Plat G A 8: 23,257,163 (GRCm39) A15T probably benign Het
Ptges2 G A 2: 32,291,542 (GRCm39) A310T possibly damaging Het
Rsl1d1 A G 16: 11,012,509 (GRCm39) S306P possibly damaging Het
Rxfp1 T C 3: 79,567,403 (GRCm39) K316E probably benign Het
Scn10a A G 9: 119,438,742 (GRCm39) I1708T probably damaging Het
Sdk2 A T 11: 113,729,358 (GRCm39) F1073Y probably damaging Het
Sp100 A G 1: 85,594,650 (GRCm39) D170G probably benign Het
Spock1 A T 13: 57,583,994 (GRCm39) probably benign Het
Strbp A G 2: 37,515,297 (GRCm39) L243P probably damaging Het
Tex55 A T 16: 38,648,586 (GRCm39) D174E probably benign Het
Tgm5 T A 2: 120,882,920 (GRCm39) T446S probably damaging Het
Tmem59l C T 8: 70,937,431 (GRCm39) V239I probably benign Het
Trav8-1 A T 14: 53,707,662 (GRCm39) T101S probably benign Het
Triml1 T C 8: 43,594,350 (GRCm39) D27G probably damaging Het
Vmn2r54 T C 7: 12,349,227 (GRCm39) E785G probably benign Het
Vps13c A G 9: 67,862,350 (GRCm39) probably null Het
Wwp2 C T 8: 108,276,153 (GRCm39) R64C probably damaging Het
Zfp608 T C 18: 55,024,890 (GRCm39) H1460R probably damaging Het
Other mutations in Cab39l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03135:Cab39l APN 14 59,757,100 (GRCm39) missense probably benign
R0305:Cab39l UTSW 14 59,757,028 (GRCm39) nonsense probably null
R0333:Cab39l UTSW 14 59,737,060 (GRCm39) missense probably damaging 1.00
R0494:Cab39l UTSW 14 59,737,008 (GRCm39) missense probably damaging 0.99
R1524:Cab39l UTSW 14 59,757,186 (GRCm39) splice site probably benign
R4061:Cab39l UTSW 14 59,737,056 (GRCm39) missense possibly damaging 0.64
R4066:Cab39l UTSW 14 59,784,454 (GRCm39) missense probably benign 0.00
R4542:Cab39l UTSW 14 59,734,351 (GRCm39) missense probably benign 0.00
R4681:Cab39l UTSW 14 59,737,054 (GRCm39) missense probably benign 0.00
R5217:Cab39l UTSW 14 59,764,258 (GRCm39) nonsense probably null
R6196:Cab39l UTSW 14 59,737,039 (GRCm39) missense probably damaging 1.00
R6427:Cab39l UTSW 14 59,743,719 (GRCm39) missense possibly damaging 0.79
R7234:Cab39l UTSW 14 59,734,395 (GRCm39) critical splice donor site probably null
R7828:Cab39l UTSW 14 59,737,159 (GRCm39) critical splice donor site probably null
R8278:Cab39l UTSW 14 59,776,562 (GRCm39) missense probably damaging 1.00
R8337:Cab39l UTSW 14 59,776,640 (GRCm39) missense probably damaging 1.00
R8719:Cab39l UTSW 14 59,734,314 (GRCm39) missense probably benign 0.00
Posted On 2014-05-07