Incidental Mutation 'R1536:Cbll1'
ID 169542
Institutional Source Beutler Lab
Gene Symbol Cbll1
Ensembl Gene ENSMUSG00000020659
Gene Name Casitas B-lineage lymphoma-like 1
Synonyms c-Cbl-like, Hakai
MMRRC Submission 039575-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # R1536 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 31534828-31549615 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31537855 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 300 (D300G)
Ref Sequence ENSEMBL: ENSMUSP00000082616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064240] [ENSMUST00000085487] [ENSMUST00000101499] [ENSMUST00000185739] [ENSMUST00000188326]
AlphaFold Q9JIY2
Predicted Effect probably damaging
Transcript: ENSMUST00000064240
AA Change: D297G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000063266
Gene: ENSMUSG00000020659
AA Change: D297G

DomainStartEndE-ValueType
RING 105 144 1.08e-1 SMART
ZnF_C2H2 160 186 5.92e0 SMART
low complexity region 203 214 N/A INTRINSIC
low complexity region 227 240 N/A INTRINSIC
low complexity region 258 270 N/A INTRINSIC
low complexity region 292 315 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000085487
AA Change: D300G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082616
Gene: ENSMUSG00000020659
AA Change: D300G

DomainStartEndE-ValueType
RING 109 148 1.08e-1 SMART
ZnF_C2H2 164 190 5.92e0 SMART
low complexity region 207 218 N/A INTRINSIC
low complexity region 231 244 N/A INTRINSIC
low complexity region 262 274 N/A INTRINSIC
low complexity region 308 325 N/A INTRINSIC
low complexity region 376 399 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000101499
AA Change: D300G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000099038
Gene: ENSMUSG00000020659
AA Change: D300G

DomainStartEndE-ValueType
RING 109 148 5.3e-4 SMART
ZnF_C2H2 164 190 2.5e-2 SMART
low complexity region 207 218 N/A INTRINSIC
low complexity region 231 244 N/A INTRINSIC
low complexity region 262 274 N/A INTRINSIC
low complexity region 308 320 N/A INTRINSIC
low complexity region 336 360 N/A INTRINSIC
low complexity region 372 388 N/A INTRINSIC
low complexity region 393 426 N/A INTRINSIC
low complexity region 451 474 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000185739
AA Change: D299G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000141007
Gene: ENSMUSG00000020659
AA Change: D299G

DomainStartEndE-ValueType
RING 108 147 5.2e-4 SMART
ZnF_C2H2 163 189 2.5e-2 SMART
low complexity region 206 217 N/A INTRINSIC
low complexity region 230 243 N/A INTRINSIC
low complexity region 261 273 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186876
Predicted Effect probably benign
Transcript: ENSMUST00000188326
SMART Domains Protein: ENSMUSP00000139809
Gene: ENSMUSG00000020659

DomainStartEndE-ValueType
RING 106 145 5.2e-4 SMART
ZnF_C2H2 161 187 2.5e-2 SMART
low complexity region 204 215 N/A INTRINSIC
low complexity region 228 241 N/A INTRINSIC
low complexity region 259 271 N/A INTRINSIC
Meta Mutation Damage Score 0.1591 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.5%
Validation Efficiency 98% (59/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an E3 ubiquitin-ligase for the E-cadherin complex and mediates its ubiquitination, endocytosis, and degradation in the lysosomes. The encoded protein contains a RING-finger domain and is also thought to have a role in control of cell proliferation. A related pseudogene has been identified on chromosome X. Alternative splicing results in a non-coding transcript variant. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik A T 5: 88,118,524 (GRCm39) I3F probably benign Het
4930590J08Rik A G 6: 91,894,016 (GRCm39) N211S probably benign Het
A2ml1 A T 6: 128,524,196 (GRCm39) Y1145* probably null Het
Abca7 A G 10: 79,850,064 (GRCm39) D1972G probably benign Het
Adamts19 A T 18: 59,185,687 (GRCm39) D1187V probably damaging Het
Adcy6 G C 15: 98,497,888 (GRCm39) I421M probably damaging Het
Afap1 C A 5: 36,131,835 (GRCm39) H387Q probably damaging Het
Atp8b1 C T 18: 64,678,335 (GRCm39) V854M probably damaging Het
Auts2 C T 5: 131,516,302 (GRCm39) probably benign Het
Cd200r4 A T 16: 44,653,412 (GRCm39) T61S possibly damaging Het
Chmp4c G T 3: 10,454,744 (GRCm39) V207L probably benign Het
Cntn5 T C 9: 9,976,321 (GRCm39) T413A possibly damaging Het
Cox7a2 T A 9: 79,665,863 (GRCm39) probably null Het
Cwc27 A G 13: 104,933,814 (GRCm39) L236P probably damaging Het
Diaph1 A G 18: 38,029,146 (GRCm39) probably null Het
Dst T A 1: 34,299,453 (GRCm39) probably benign Het
Ear1 T A 14: 44,056,583 (GRCm39) H95L probably damaging Het
Enpp1 T A 10: 24,517,732 (GRCm39) H898L probably benign Het
Entpd5 G A 12: 84,429,069 (GRCm39) R321* probably null Het
Ercc6l2 C A 13: 63,972,685 (GRCm39) N177K possibly damaging Het
Ergic1 T C 17: 26,860,680 (GRCm39) probably null Het
Erich6 A T 3: 58,534,019 (GRCm39) I336N probably benign Het
Fmnl2 A G 2: 52,995,549 (GRCm39) E424G probably damaging Het
Galnt3 A T 2: 65,914,550 (GRCm39) D622E probably damaging Het
Gjd4 T A 18: 9,280,569 (GRCm39) T170S probably damaging Het
Gm5611 G A 9: 16,941,903 (GRCm39) noncoding transcript Het
Gpc5 T A 14: 115,636,662 (GRCm39) N448K probably benign Het
Klra3 G C 6: 130,310,107 (GRCm39) R138G probably benign Het
Maco1 A G 4: 134,531,818 (GRCm39) V617A probably damaging Het
Man2b2 T C 5: 36,978,271 (GRCm39) T338A probably benign Het
Mbtps1 A T 8: 120,272,864 (GRCm39) S94T probably benign Het
Muc3a A T 5: 137,244,538 (GRCm39) S205T unknown Het
Nav2 C A 7: 49,195,682 (GRCm39) D1019E probably damaging Het
Neurl4 T A 11: 69,794,252 (GRCm39) L236* probably null Het
Or13c25 A G 4: 52,911,260 (GRCm39) V178A probably benign Het
Plcxd3 T C 15: 4,546,093 (GRCm39) probably benign Het
Pprc1 T C 19: 46,059,965 (GRCm39) probably benign Het
Prkaa2 T A 4: 104,932,647 (GRCm39) N67I probably damaging Het
Prom1 T A 5: 44,175,695 (GRCm39) Y508F probably benign Het
Prx A G 7: 27,216,683 (GRCm39) M534V probably damaging Het
Rps6kc1 C T 1: 190,603,965 (GRCm39) R219Q possibly damaging Het
Sbf2 T C 7: 109,977,250 (GRCm39) Y628C probably damaging Het
Slc1a2 A T 2: 102,607,855 (GRCm39) D501V probably benign Het
Spata31 A T 13: 65,069,196 (GRCm39) Q448L probably damaging Het
Stk35 T C 2: 129,653,155 (GRCm39) probably benign Het
Stxbp5 T A 10: 9,713,836 (GRCm39) R234S probably damaging Het
Tifab A G 13: 56,324,101 (GRCm39) V114A probably benign Het
Tiprl A G 1: 165,055,975 (GRCm39) M49T probably benign Het
Tlr12 A G 4: 128,511,545 (GRCm39) L235P possibly damaging Het
Trim43b A T 9: 88,967,411 (GRCm39) C407* probably null Het
Txndc17 C A 11: 72,098,533 (GRCm39) F28L probably damaging Het
Vmn2r27 T C 6: 124,177,649 (GRCm39) R452G probably damaging Het
Vmn2r3 T A 3: 64,182,538 (GRCm39) D387V probably damaging Het
Vps13b T C 15: 35,875,712 (GRCm39) I2699T probably damaging Het
Zfp944 G T 17: 22,558,697 (GRCm39) Y183* probably null Het
Other mutations in Cbll1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00472:Cbll1 APN 12 31,537,832 (GRCm39) missense probably damaging 0.99
IGL00540:Cbll1 APN 12 31,537,940 (GRCm39) missense probably damaging 1.00
IGL02988:Cbll1 UTSW 12 31,542,171 (GRCm39) missense possibly damaging 0.86
R0398:Cbll1 UTSW 12 31,542,091 (GRCm39) missense probably damaging 0.99
R0573:Cbll1 UTSW 12 31,540,539 (GRCm39) missense probably damaging 1.00
R5102:Cbll1 UTSW 12 31,537,912 (GRCm39) missense probably damaging 1.00
R6267:Cbll1 UTSW 12 31,537,507 (GRCm39) missense probably benign 0.00
R6296:Cbll1 UTSW 12 31,537,507 (GRCm39) missense probably benign 0.00
R6304:Cbll1 UTSW 12 31,544,588 (GRCm39) critical splice donor site probably null
R6882:Cbll1 UTSW 12 31,537,484 (GRCm39) missense probably damaging 1.00
R7751:Cbll1 UTSW 12 31,537,579 (GRCm39) missense probably damaging 0.99
R8235:Cbll1 UTSW 12 31,541,570 (GRCm39) missense probably benign 0.33
R8963:Cbll1 UTSW 12 31,538,199 (GRCm39) missense probably damaging 1.00
R9388:Cbll1 UTSW 12 31,541,567 (GRCm39) missense probably benign 0.09
R9508:Cbll1 UTSW 12 31,544,685 (GRCm39) missense probably damaging 0.99
X0028:Cbll1 UTSW 12 31,538,308 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCAGGCCATATACCAGGACTCATTC -3'
(R):5'- TGAGCCATATTCCTCCAAAGCAGC -3'

Sequencing Primer
(F):5'- CTATATACCAAGTGAGGAGTACCTGC -3'
(R):5'- ATGATGCCACCGCCTCC -3'
Posted On 2014-04-13