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 4930520C08Rik, MO2L, 1500031K13Rik, 2810425O13Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01998
Quality Score
Status
Chromosome 14
Chromosomal Location 59440972-59585764 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 59496895 bp (GRCm38)
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
3110043O21Rik A T 4: 35,194,179 D205E probably benign Het
4930435E12Rik A T 16: 38,828,224 D174E probably benign Het
4932438A13Rik T C 3: 36,957,016 S1788P possibly damaging Het
Arpc3 T C 5: 122,403,407 C78R probably damaging Het
Atp6v0b A G 4: 117,886,066 probably null Het
B3gnt8 A G 7: 25,628,778 Y211C probably damaging Het
Birc6 T C 17: 74,579,885 I736T probably benign Het
Bpifb9a T C 2: 154,268,200 probably null Het
C3ar1 A T 6: 122,850,940 M106K probably damaging Het
Casp1 A T 9: 5,303,043 I166F probably damaging Het
Cd180 A G 13: 102,705,214 E256G probably damaging Het
Clca4a T C 3: 144,958,126 T519A probably damaging Het
Clstn3 A T 6: 124,458,663 L233Q probably damaging Het
Crlf3 G A 11: 80,058,019 probably benign Het
Depdc5 T C 5: 32,945,151 probably benign Het
Drc7 T A 8: 95,059,193 C226S probably damaging Het
Epha5 T A 5: 84,084,734 D807V probably damaging Het
Fat2 A G 11: 55,296,195 L1275P probably benign Het
Fv1 T C 4: 147,869,327 C117R possibly damaging Het
Ighg2b C A 12: 113,307,089 M140I unknown Het
Klra5 A T 6: 129,906,713 Y60* probably null Het
Lmtk2 C T 5: 144,176,065 T1201I probably damaging Het
Ncapd2 A T 6: 125,169,933 L1230H probably damaging Het
Ncapd2 A T 6: 125,173,115 S917T probably benign Het
Nfx1 T A 4: 41,004,353 I708N probably damaging Het
Notch2 A T 3: 98,143,106 D1899V probably damaging Het
Npepl1 T A 2: 174,116,200 probably benign Het
Nps T A 7: 135,268,752 probably benign Het
Nrg1 T C 8: 31,918,134 S24G probably damaging Het
Olfr330 A T 11: 58,529,577 Y136* probably null Het
Olfr352 A G 2: 36,869,646 N27D probably benign Het
Olfr698 G A 7: 106,752,551 T279M possibly damaging Het
Olfr730 C A 14: 50,186,648 V190L probably benign Het
Pigx G T 16: 32,084,610 T211K probably benign Het
Pink1 A G 4: 138,320,742 I223T probably damaging Het
Plat G A 8: 22,767,147 A15T probably benign Het
Ptges2 G A 2: 32,401,530 A310T possibly damaging Het
Rsl1d1 A G 16: 11,194,645 S306P possibly damaging Het
Rxfp1 T C 3: 79,660,096 K316E probably benign Het
Scn10a A G 9: 119,609,676 I1708T probably damaging Het
Sdk2 A T 11: 113,838,532 F1073Y probably damaging Het
Sp100 A G 1: 85,666,929 D170G probably benign Het
Spock1 A T 13: 57,436,181 probably benign Het
Strbp A G 2: 37,625,285 L243P probably damaging Het
Tgm5 T A 2: 121,052,439 T446S probably damaging Het
Tmem59l C T 8: 70,484,781 V239I probably benign Het
Trav8-1 A T 14: 53,470,205 T101S probably benign Het
Triml1 T C 8: 43,141,313 D27G probably damaging Het
Vmn2r54 T C 7: 12,615,300 E785G probably benign Het
Vps13c A G 9: 67,955,068 probably null Het
Wwp2 C T 8: 107,549,521 R64C probably damaging Het
Zfp608 T C 18: 54,891,818 H1460R probably damaging Het
Other mutations in Cab39l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03135:Cab39l APN 14 59519651 missense probably benign
R0305:Cab39l UTSW 14 59519579 nonsense probably null
R0333:Cab39l UTSW 14 59499611 missense probably damaging 1.00
R0494:Cab39l UTSW 14 59499559 missense probably damaging 0.99
R1524:Cab39l UTSW 14 59519737 splice site probably benign
R4061:Cab39l UTSW 14 59499607 missense possibly damaging 0.64
R4066:Cab39l UTSW 14 59547005 missense probably benign 0.00
R4542:Cab39l UTSW 14 59496902 missense probably benign 0.00
R4681:Cab39l UTSW 14 59499605 missense probably benign 0.00
R5217:Cab39l UTSW 14 59526809 nonsense probably null
R6196:Cab39l UTSW 14 59499590 missense probably damaging 1.00
R6427:Cab39l UTSW 14 59506270 missense possibly damaging 0.79
R7234:Cab39l UTSW 14 59496946 critical splice donor site probably null
R7828:Cab39l UTSW 14 59499710 critical splice donor site probably null
R8278:Cab39l UTSW 14 59539113 missense probably damaging 1.00
R8337:Cab39l UTSW 14 59539191 missense probably damaging 1.00
R8719:Cab39l UTSW 14 59496865 missense probably benign 0.00
Posted On 2014-05-07