Incidental Mutation 'IGL03233:Cab39'
ID413973
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cab39
Ensembl Gene ENSMUSG00000036707
Gene Namecalcium binding protein 39
SynonymsMO25alpha, 39kDa
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.924) question?
Stock #IGL03233
Quality Score
Status
Chromosome1
Chromosomal Location85793441-85851576 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 85842323 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 175 (M175K)
Ref Sequence ENSEMBL: ENSMUSP00000108987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097666] [ENSMUST00000113360]
Predicted Effect probably benign
Transcript: ENSMUST00000097666
AA Change: M175K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000095270
Gene: ENSMUSG00000036707
AA Change: M175K

DomainStartEndE-ValueType
Pfam:Mo25 3 334 7.1e-147 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113360
AA Change: M175K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108987
Gene: ENSMUSG00000036707
AA Change: M175K

DomainStartEndE-ValueType
Pfam:Mo25 1 335 2.7e-148 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187623
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 T C 4: 86,342,120 F856S probably damaging Het
Ak7 A G 12: 105,761,480 D457G probably damaging Het
Ankrd26 G T 6: 118,535,146 probably null Het
Ano5 C A 7: 51,570,368 P405T probably damaging Het
Asah2 T A 19: 32,054,631 N46I probably benign Het
Atg4c A T 4: 99,229,503 Y343F probably benign Het
Cadps2 T C 6: 23,263,601 E1257G probably benign Het
Casc1 A T 6: 145,181,885 Y433N probably damaging Het
Ces1d A G 8: 93,195,079 Y19H probably benign Het
Cst6 T C 19: 5,349,261 D25G probably damaging Het
Cyp4a30b A T 4: 115,458,970 T298S probably benign Het
Dgkk T C X: 6,903,838 L352P probably damaging Het
Dync2h1 A C 9: 7,101,525 F482V possibly damaging Het
Esco1 A G 18: 10,574,877 W208R probably damaging Het
Fbn2 T C 18: 58,102,377 D676G probably benign Het
Foxp3 T C X: 7,587,423 probably benign Het
Gpr108 T A 17: 57,245,042 I123F probably benign Het
Gsdmc4 A T 15: 63,902,860 V24E probably damaging Het
Jam3 C A 9: 27,101,921 V118F probably damaging Het
Kif23 T A 9: 61,926,453 I489F probably benign Het
Lama3 T A 18: 12,481,038 V1288D probably damaging Het
Mark2 G T 19: 7,284,726 H308N possibly damaging Het
Mms19 T C 19: 41,946,913 probably null Het
Neb A T 2: 52,308,301 I477N possibly damaging Het
Npm1 G T 11: 33,156,717 Q204K probably benign Het
Nsun5 G A 5: 135,375,445 V369M probably damaging Het
Olfr1355 C A 10: 78,879,572 Y133* probably null Het
Pcdhb13 T A 18: 37,444,265 N565K probably damaging Het
Pla2r1 A G 2: 60,428,580 F1155L possibly damaging Het
Pus10 T A 11: 23,712,241 W304R probably damaging Het
Rab32 G A 10: 10,546,313 Q221* probably null Het
Rlf A G 4: 121,182,600 probably benign Het
Robo1 A T 16: 72,970,193 I418F probably damaging Het
Slc44a2 T C 9: 21,348,622 I642T possibly damaging Het
Ston2 T A 12: 91,647,853 T594S probably damaging Het
Szt2 T C 4: 118,372,529 T2802A unknown Het
Tshz3 T A 7: 36,770,079 Y498N probably damaging Het
Zfp280b T A 10: 76,039,769 I494N probably damaging Het
Zfp281 A G 1: 136,626,829 Q515R possibly damaging Het
Other mutations in Cab39
AlleleSourceChrCoordTypePredicted EffectPPH Score
forgetmenot UTSW 1 85818455 nonsense probably null
recall UTSW 1 85848377 missense probably damaging 1.00
R0317:Cab39 UTSW 1 85849160 missense probably damaging 1.00
R0383:Cab39 UTSW 1 85837299 missense probably damaging 1.00
R0556:Cab39 UTSW 1 85835491 splice site probably benign
R0612:Cab39 UTSW 1 85818515 critical splice donor site probably null
R4598:Cab39 UTSW 1 85848329 missense probably damaging 1.00
R4599:Cab39 UTSW 1 85848329 missense probably damaging 1.00
R6170:Cab39 UTSW 1 85818455 nonsense probably null
R6892:Cab39 UTSW 1 85848377 missense probably damaging 1.00
R7287:Cab39 UTSW 1 85818461 missense probably benign 0.00
Posted On2016-08-02