Incidental Mutation 'R8719:Cab39l'
ID 670038
Institutional Source Beutler Lab
Gene Symbol Cab39l
Ensembl Gene ENSMUSG00000021981
Gene Name calcium binding protein 39-like
Synonyms 2810425O13Rik, MO2L, 4930520C08Rik, 1500031K13Rik
MMRRC Submission 068614-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8719 (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 T at 59734314 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 11 (H11L)
Ref Sequence ENSEMBL: ENSMUSP00000022553 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022553] [ENSMUST00000223678] [ENSMUST00000224893] [ENSMUST00000225595]
AlphaFold Q9DB16
Predicted Effect probably benign
Transcript: ENSMUST00000022553
AA Change: H11L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000022553
Gene: ENSMUSG00000021981
AA Change: H11L

DomainStartEndE-ValueType
Pfam:Mo25 5 333 1.1e-142 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000223678
AA Change: H11L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000224893
AA Change: H11L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000225595
AA Change: H11L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (61/61)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 T C 8: 46,966,700 (GRCm39) I224T probably benign Het
Adamts20 C G 15: 94,241,903 (GRCm39) A702P probably damaging Het
Ahdc1 T A 4: 132,791,533 (GRCm39) Y925N possibly damaging Het
Anapc1 T C 2: 128,483,369 (GRCm39) E1242G probably damaging Het
Angptl2 A G 2: 33,133,914 (GRCm39) N412S possibly damaging Het
Aox3 T C 1: 58,158,696 (GRCm39) V89A probably damaging Het
Atxn1l A T 8: 110,459,861 (GRCm39) S134T possibly damaging Het
Brf1 C A 12: 112,943,304 (GRCm39) probably benign Het
Cabcoco1 A G 10: 68,272,671 (GRCm39) probably benign Het
Ccdc150 C A 1: 54,302,668 (GRCm39) P96Q probably benign Het
Chek2 T C 5: 111,014,908 (GRCm39) V459A probably damaging Het
Cntnap2 A T 6: 45,978,161 (GRCm39) D272V probably damaging Het
Cspp1 T C 1: 10,160,516 (GRCm39) S572P possibly damaging Het
Cysltr2 T C 14: 73,267,111 (GRCm39) T200A possibly damaging Het
Dglucy T C 12: 100,804,821 (GRCm39) L104P probably damaging Het
Dnah8 T A 17: 30,960,289 (GRCm39) M2222K probably damaging Het
Dync2h1 C A 9: 7,041,641 (GRCm39) V3334F probably benign Het
Ear2 A T 14: 44,340,734 (GRCm39) T131S possibly damaging Het
Eef1akmt2 A T 7: 132,452,340 (GRCm39) V92D probably damaging Het
Fam83c T A 2: 155,671,128 (GRCm39) Q769L probably benign Het
Fanca A T 8: 124,014,867 (GRCm39) C812S probably benign Het
Gm21663 T G 5: 26,146,162 (GRCm39) R50S probably damaging Het
Gm5591 T G 7: 38,221,614 (GRCm39) S152R probably benign Het
Gm6370 T G 5: 146,430,626 (GRCm39) D270E probably damaging Het
H2-T22 T C 17: 36,352,835 (GRCm39) I91V probably benign Het
Hdac5 T C 11: 102,097,963 (GRCm39) M61V probably benign Het
Hsd17b6 A G 10: 127,829,492 (GRCm39) S237P possibly damaging Het
Khk T A 5: 31,088,374 (GRCm39) F294I possibly damaging Het
Klc1 G A 12: 111,772,509 (GRCm39) probably benign Het
Lamb3 T C 1: 193,006,099 (GRCm39) W143R probably damaging Het
Lmo2 T C 2: 103,811,264 (GRCm39) I171T probably damaging Het
Meis1 A G 11: 18,835,587 (GRCm39) S344P probably benign Het
Nf1 C A 11: 79,281,119 (GRCm39) R125S possibly damaging Het
Nrcam A G 12: 44,586,325 (GRCm39) E105G probably benign Het
Nudt22 T C 19: 6,972,638 (GRCm39) D150G possibly damaging Het
Or14j8 T C 17: 38,263,895 (GRCm39) T7A probably damaging Het
Or5an1 A G 19: 12,260,792 (GRCm39) I127V probably benign Het
Or5b109 A G 19: 13,211,836 (GRCm39) Y74C probably damaging Het
Pclo A T 5: 14,763,778 (GRCm39) R799* probably null Het
Pelp1 T C 11: 70,292,789 (GRCm39) N175S probably damaging Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,302,525 (GRCm39) probably benign Het
Pik3r4 C A 9: 105,559,394 (GRCm39) S1162R probably benign Het
Pkd1l3 A T 8: 110,341,255 (GRCm39) N36I unknown Het
Pomk T A 8: 26,473,503 (GRCm39) Y150F possibly damaging Het
Rdh11 T A 12: 79,229,574 (GRCm39) H233L probably benign Het
Rln1 A T 19: 29,309,281 (GRCm39) M166K probably benign Het
Rnf40 T A 7: 127,191,834 (GRCm39) L356Q probably damaging Het
Sin3b G T 8: 73,450,139 (GRCm39) G19W unknown Het
Slc6a15 A G 10: 103,240,176 (GRCm39) R300G probably damaging Het
Sncaip A T 18: 53,027,910 (GRCm39) K433M probably damaging Het
Tead2 A T 7: 44,882,316 (GRCm39) probably benign Het
Tespa1 A G 10: 130,184,108 (GRCm39) D63G probably benign Het
Tmem117 T C 15: 94,992,248 (GRCm39) F303L probably damaging Het
Tmem270 T G 5: 134,930,650 (GRCm39) T204P probably damaging Het
Trip12 A G 1: 84,722,790 (GRCm39) V1320A probably damaging Het
Ttc7b A G 12: 100,267,812 (GRCm39) L843P probably damaging Het
Ttn T C 2: 76,543,041 (GRCm39) Y33315C probably damaging Het
Ttn A G 2: 76,607,146 (GRCm39) V17959A possibly damaging Het
Vmn2r73 A G 7: 85,521,095 (GRCm39) V291A probably damaging Het
Ywhag T A 5: 135,939,998 (GRCm39) T199S probably benign Het
Zfp810 T C 9: 22,190,571 (GRCm39) T77A probably benign 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
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
Predicted Primers PCR Primer
(F):5'- GCATAAGCCATTGTTGTACTCTTC -3'
(R):5'- AGGGACCACACTTAAACTTCTTC -3'

Sequencing Primer
(F):5'- AGCCATTGTTGTACTCTTCAGGAAC -3'
(R):5'- TCTTCATTAAACTTTCACATGGGC -3'
Posted On 2021-04-30