Incidental Mutation 'R6427:Cab39l'
ID 518374
Institutional Source Beutler Lab
Gene Symbol Cab39l
Ensembl Gene ENSMUSG00000021981
Gene Name calcium binding protein 39-like
Synonyms 2810425O13Rik, MO2L, 4930520C08Rik, 1500031K13Rik
MMRRC Submission 044566-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6427 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 59678400-59786353 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 59743719 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 94 (K94N)
Ref Sequence ENSEMBL: ENSMUSP00000153643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022553] [ENSMUST00000225595]
AlphaFold Q9DB16
Predicted Effect possibly damaging
Transcript: ENSMUST00000022553
AA Change: K94N

PolyPhen 2 Score 0.789 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000022553
Gene: ENSMUSG00000021981
AA Change: K94N

DomainStartEndE-ValueType
Pfam:Mo25 5 333 1.1e-142 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224281
Predicted Effect possibly damaging
Transcript: ENSMUST00000225595
AA Change: K94N

PolyPhen 2 Score 0.789 (Sensitivity: 0.85; Specificity: 0.93)
Meta Mutation Damage Score 0.7372 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.1%
Validation Efficiency 93% (39/42)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat C T 16: 8,420,300 (GRCm39) probably benign Het
Ankmy2 A G 12: 36,237,710 (GRCm39) S270G possibly damaging Het
Anxa2 T A 9: 69,383,431 (GRCm39) probably null Het
Arid1a G T 4: 133,408,835 (GRCm39) P1891T unknown Het
Atn1 G T 6: 124,723,139 (GRCm39) probably benign Het
Atp8b3 A T 10: 80,356,157 (GRCm39) probably null Het
Cacna2d2 G T 9: 107,392,641 (GRCm39) M528I possibly damaging Het
Ccnc T A 4: 21,747,578 (GRCm39) probably null Het
Cfap251 T C 5: 123,464,596 (GRCm39) L1268P probably damaging Het
Clasp2 C T 9: 113,721,512 (GRCm39) T774I probably damaging Het
Cngb1 C T 8: 96,024,387 (GRCm39) probably benign Het
Cpt1a T A 19: 3,412,156 (GRCm39) F209L probably damaging Het
Cyp2j7 C A 4: 96,115,904 (GRCm39) D181Y probably damaging Het
Daam2 C T 17: 49,776,404 (GRCm39) E828K probably damaging Het
Ddr1 C A 17: 35,998,114 (GRCm39) R477L probably benign Het
Ech1 A G 7: 28,525,310 (GRCm39) T22A probably benign Het
Fbln5 T C 12: 101,728,081 (GRCm39) D294G possibly damaging Het
Fkbp15 T C 4: 62,241,439 (GRCm39) I569V probably benign Het
Hmcn1 G T 1: 150,573,227 (GRCm39) R2141S possibly damaging Het
Kat6b T C 14: 21,567,480 (GRCm39) S180P probably benign Het
Lepr G A 4: 101,631,454 (GRCm39) E655K possibly damaging Het
Mro T A 18: 74,005,104 (GRCm39) L69Q probably damaging Het
Nipbl A T 15: 8,381,049 (GRCm39) L581H probably benign Het
Nkiras2 C T 11: 100,515,861 (GRCm39) R63W probably damaging Het
Nlrp4e T A 7: 23,020,058 (GRCm39) S182T possibly damaging Het
Obi1 T C 14: 104,717,662 (GRCm39) K237R possibly damaging Het
Or52b4i A T 7: 102,191,895 (GRCm39) I251F probably benign Het
Otud4 T C 8: 80,395,126 (GRCm39) S553P probably benign Het
Pcdha4 T C 18: 37,086,786 (GRCm39) I323T probably benign Het
Polr1b G T 2: 128,965,181 (GRCm39) A756S probably damaging Het
Prex2 A T 1: 11,252,255 (GRCm39) Y1100F probably damaging Het
Serpinb6a A T 13: 34,102,242 (GRCm39) S328T probably damaging Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Het
Stxbp5 T C 10: 9,774,998 (GRCm39) T52A probably damaging Het
Taf3 A T 2: 9,956,164 (GRCm39) F515I probably damaging Het
Unc13b A G 4: 43,176,966 (GRCm39) probably benign Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Vps51 T C 19: 6,120,947 (GRCm39) Y322C possibly damaging Het
Zfp735 G A 11: 73,581,140 (GRCm39) C59Y possibly damaging Het
Zfp759 A G 13: 67,287,162 (GRCm39) probably null Het
Other mutations in Cab39l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01998:Cab39l APN 14 59,734,344 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TACATTTTGGTGAAGAATTGTGCCC -3'
(R):5'- AGCAAACACTGACCTGGCAG -3'

Sequencing Primer
(F):5'- GGTGAAGAATTGTGCCCATTTAG -3'
(R):5'- TGGCAGTTCCAGATGAGGC -3'
Posted On 2018-05-24