Incidental Mutation 'R4542:Cab39l'
ID 333603
Institutional Source Beutler Lab
Gene Symbol Cab39l
Ensembl Gene ENSMUSG00000021981
Gene Name calcium binding protein 39-like
Synonyms 2810425O13Rik, MO2L, 4930520C08Rik, 1500031K13Rik
MMRRC Submission 041593-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4542 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 59678400-59786353 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 59734351 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 23 (D23E)
Ref Sequence ENSEMBL: ENSMUSP00000153449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022553] [ENSMUST00000223678] [ENSMUST00000224893] [ENSMUST00000225595]
AlphaFold Q9DB16
Predicted Effect probably benign
Transcript: ENSMUST00000022553
AA Change: D23E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022553
Gene: ENSMUSG00000021981
AA Change: D23E

DomainStartEndE-ValueType
Pfam:Mo25 5 333 1.1e-142 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000223678
AA Change: D23E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224281
Predicted Effect probably benign
Transcript: ENSMUST00000224893
AA Change: D23E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000225595
AA Change: D23E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A T 9: 57,163,875 (GRCm39) L833Q probably damaging Het
Adcy6 C G 15: 98,496,869 (GRCm39) V469L possibly damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Bean1 T A 8: 104,937,591 (GRCm39) F57I probably damaging Het
Brinp1 T C 4: 68,680,329 (GRCm39) I734V probably benign Het
Cfap54 T C 10: 92,860,991 (GRCm39) T839A probably benign Het
Clgn A G 8: 84,146,838 (GRCm39) E297G probably damaging Het
Crip1 A G 12: 113,117,109 (GRCm39) Y108C probably damaging Het
Cxcr2 A G 1: 74,197,688 (GRCm39) S61G probably benign Het
Dph5 T C 3: 115,722,274 (GRCm39) S251P probably damaging Het
E2f7 T A 10: 110,602,984 (GRCm39) V333E probably damaging Het
Eif4g3 A G 4: 137,930,728 (GRCm39) D918G probably damaging Het
Epn1 A G 7: 5,096,980 (GRCm39) E254G possibly damaging Het
Fat1 T C 8: 45,494,931 (GRCm39) C4065R probably damaging Het
Gja1 T C 10: 56,264,148 (GRCm39) F169S probably damaging Het
Kmt2b A G 7: 30,279,684 (GRCm39) I1384T probably damaging Het
Ltbp2 A T 12: 84,878,593 (GRCm39) L302* probably null Het
Nalcn T C 14: 123,558,889 (GRCm39) silent Het
Nlrp1b A C 11: 71,119,151 (GRCm39) L48W probably damaging Het
Nlrp4c G A 7: 6,103,826 (GRCm39) W920* probably null Het
Nr2f1 C T 13: 78,337,940 (GRCm39) G235D probably damaging Het
Nt5dc2 T A 14: 30,860,095 (GRCm39) D374E probably benign Het
Or2d3 GAACAACAACAA GAACAACAA 7: 106,490,567 (GRCm39) probably benign Het
Or51e2 T C 7: 102,391,850 (GRCm39) D120G probably damaging Het
Or5ak23 T C 2: 85,244,287 (GRCm39) D312G probably benign Het
Pikfyve T C 1: 65,283,589 (GRCm39) I742T probably damaging Het
Rftn1 A G 17: 50,362,259 (GRCm39) probably null Het
Rfx1 G A 8: 84,816,866 (GRCm39) G466S probably damaging Het
Scn11a A T 9: 119,584,200 (GRCm39) S1472T probably damaging Het
Sh2d4a A G 8: 68,799,394 (GRCm39) Q421R probably benign Het
Slc25a10 G A 11: 120,388,807 (GRCm39) probably null Het
Sost G A 11: 101,857,670 (GRCm39) P44S probably damaging Het
Spen T C 4: 141,204,097 (GRCm39) Y1510C unknown Het
Ssu72 A G 4: 155,817,934 (GRCm39) Q163R probably benign Het
Stau1 A G 2: 166,795,181 (GRCm39) Y223H probably damaging Het
Syne3 A T 12: 104,935,503 (GRCm39) S92T probably benign Het
Ulbp1 T C 10: 7,406,570 (GRCm39) D45G probably damaging Het
Ulk4 G A 9: 121,092,704 (GRCm39) R178* probably null Het
Vmn1r67 A G 7: 10,181,357 (GRCm39) Y207C probably damaging Het
Vmn2r59 T C 7: 41,695,497 (GRCm39) D305G possibly damaging Het
Zbtb18 A G 1: 177,276,232 (GRCm39) K522E probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- TGCCATAACAATTAGACATGTTATGA -3'
(R):5'- CTGGACAGTGAACCAAAGATTCAGTAC -3'

Sequencing Primer
(F):5'- CCATATTGGAAGAAGAGGTTT -3'
(R):5'- TGACCCAACAGTTACTAGCTG -3'
Posted On 2015-08-18