Incidental Mutation 'R7234:Cab39l'
ID562720
Institutional Source Beutler Lab
Gene Symbol Cab39l
Ensembl Gene ENSMUSG00000021981
Gene Namecalcium binding protein 39-like
Synonyms4930520C08Rik, MO2L, 1500031K13Rik, 2810425O13Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7234 (G1)
Quality Score225.009
Status Validated
Chromosome14
Chromosomal Location59440972-59585764 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 59496946 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000022553 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022553] [ENSMUST00000223678] [ENSMUST00000224893] [ENSMUST00000225595]
Predicted Effect probably null
Transcript: ENSMUST00000022553
SMART Domains Protein: ENSMUSP00000022553
Gene: ENSMUSG00000021981

DomainStartEndE-ValueType
Pfam:Mo25 5 333 1.1e-142 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000223678
Predicted Effect probably benign
Transcript: ENSMUST00000224893
Predicted Effect probably null
Transcript: ENSMUST00000225595
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (66/66)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik C A 2: 130,806,788 R258L unknown Het
Acy3 T A 19: 3,987,758 Y88* probably null Het
AI606181 T A 19: 41,593,637 I82N unknown Het
Akap1 T C 11: 88,838,982 Y638C probably damaging Het
Angpt1 T C 15: 42,459,725 N383D probably benign Het
Ank T C 15: 27,571,656 probably null Het
Aoc1 C T 6: 48,905,816 Q209* probably null Het
Apol7c A T 15: 77,525,675 L357* probably null Het
Atxn2l A G 7: 126,493,201 L958P probably damaging Het
Cdk5rap2 A G 4: 70,376,787 probably null Het
Cdkn3 T C 14: 46,771,461 S204P unknown Het
Cds2 T C 2: 132,304,480 probably null Het
Cideb C T 14: 55,754,560 R179H probably benign Het
Cped1 A G 6: 22,254,626 Q1006R probably damaging Het
Csmd2 A G 4: 128,456,779 Y1547C Het
Dicer1 A G 12: 104,708,849 L718S probably damaging Het
Dyrk2 T C 10: 118,860,231 H374R possibly damaging Het
Edem2 A T 2: 155,710,966 Y283N probably benign Het
Ero1lb A T 13: 12,600,314 S345C possibly damaging Het
Fam83g T C 11: 61,702,516 V292A possibly damaging Het
Farp2 A G 1: 93,580,119 D513G possibly damaging Het
Fbxl5 A G 5: 43,758,220 W617R probably benign Het
Fzd7 G A 1: 59,483,284 V109M probably damaging Het
Gbp5 A T 3: 142,521,137 H583L probably benign Het
Gm10306 T A 4: 94,556,795 L84M unknown Het
Gm11756 G T 4: 73,917,571 L219M probably benign Het
Gsap A G 5: 21,186,435 T25A probably benign Het
Hectd4 G T 5: 121,329,073 R2466L possibly damaging Het
Ide C A 19: 37,290,785 C557F Het
Igdcc4 T A 9: 65,135,468 C1234* probably null Het
Ints4 A G 7: 97,530,300 I701V probably benign Het
Kalrn T A 16: 34,176,422 I1467F possibly damaging Het
Kcnip3 C A 2: 127,521,336 R2M unknown Het
Kcnrg A T 14: 61,608,082 E190D unknown Het
Klk13 T C 7: 43,721,417 L131P probably damaging Het
Lhcgr A T 17: 88,791,931 L14Q possibly damaging Het
Mdm4 A T 1: 133,011,115 D80E probably damaging Het
Mib2 G T 4: 155,657,893 Q311K probably damaging Het
Mycbp2 A T 14: 103,215,337 S1703T probably damaging Het
Naip6 A T 13: 100,315,503 C200* probably null Het
Ncapd3 T A 9: 27,050,359 I361N probably damaging Het
Nom1 A G 5: 29,435,453 E259G probably benign Het
Olfr16 T A 1: 172,957,106 F104I probably damaging Het
Olfr620 A G 7: 103,611,882 L157P probably damaging Het
Plxna2 A T 1: 194,806,390 H1658L probably damaging Het
Ranbp6 T C 19: 29,812,062 T297A possibly damaging Het
Rap1gap T A 4: 137,728,540 C722* probably null Het
Ribc2 A G 15: 85,135,532 K172E probably benign Het
Scamp5 C A 9: 57,447,140 W77L probably damaging Het
Scin T A 12: 40,080,958 K319* probably null Het
Sec16a G T 2: 26,439,768 T745K probably damaging Het
Slc15a2 G A 16: 36,757,811 A403V probably benign Het
Slco6c1 A G 1: 97,125,741 V145A probably benign Het
Sncaip C T 18: 52,915,344 H951Y probably benign Het
Spem1 A G 11: 69,821,804 probably null Het
Spen C T 4: 141,479,135 R727Q unknown Het
Thra T C 11: 98,763,718 S305P probably damaging Het
Tlr1 A G 5: 64,926,724 V170A probably damaging Het
Tmem260 T A 14: 48,505,329 C388* probably null Het
Tmem60 T A 5: 20,886,621 V128D possibly damaging Het
Tpo G A 12: 30,092,686 P680S probably benign Het
Ttc30a2 A T 2: 75,976,196 Y657* probably null Het
Umodl1 A G 17: 30,986,621 E730G possibly damaging Het
Vmn2r69 T C 7: 85,407,107 T608A probably benign Het
Xrra1 G A 7: 99,914,249 S481N possibly damaging Het
Zc3h4 G A 7: 16,429,036 V446I unknown Het
Other mutations in Cab39l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01998:Cab39l APN 14 59496895 missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- TGCCATAACAATTAGACATGTTATGA -3'
(R):5'- GCTCTGGACAGTGAACCAAAGAT -3'

Sequencing Primer
(F):5'- CATTCCATATTGGAAGAAGAGG -3'
(R):5'- TGGACAGTGAACCAAAGATTCAGTAC -3'
Posted On2019-06-26