Incidental Mutation 'IGL02988:Cbll1'
ID 453509
Institutional Source Beutler Lab
Gene Symbol Cbll1
Ensembl Gene ENSMUSG00000020659
Gene Name Casitas B-lineage lymphoma-like 1
Synonyms c-Cbl-like, Hakai
Accession Numbers
Essential gene? Probably essential (E-score: 0.940) question?
Stock # IGL02988 (G1)
Quality Score 215
Status Validated
Chromosome 12
Chromosomal Location 31534828-31549615 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 31542171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 63 (F63L)
Ref Sequence ENSEMBL: ENSMUSP00000082616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064240] [ENSMUST00000085487] [ENSMUST00000101499] [ENSMUST00000185739] [ENSMUST00000188326]
AlphaFold Q9JIY2
Predicted Effect probably benign
Transcript: ENSMUST00000064240
AA Change: F60L

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000063266
Gene: ENSMUSG00000020659
AA Change: F60L

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 possibly damaging
Transcript: ENSMUST00000085487
AA Change: F63L

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000082616
Gene: ENSMUSG00000020659
AA Change: F63L

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 benign
Transcript: ENSMUST00000101499
AA Change: F63L

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000099038
Gene: ENSMUSG00000020659
AA Change: F63L

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 possibly damaging
Transcript: ENSMUST00000185739
AA Change: F62L

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000141007
Gene: ENSMUSG00000020659
AA Change: F62L

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 possibly damaging
Transcript: ENSMUST00000188326
AA Change: F59L

PolyPhen 2 Score 0.713 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000139809
Gene: ENSMUSG00000020659
AA Change: F59L

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 0.0604 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 99% (71/72)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933416I08Rik TCC TCCC X: 52,692,862 (GRCm39) noncoding transcript Het
Aadacl4fm5 T A 4: 144,513,100 (GRCm39) probably benign Het
Adgrd1 G A 5: 129,221,074 (GRCm39) A488T probably benign Het
Ano3 T C 2: 110,605,355 (GRCm39) S284G probably damaging Het
Aox1 G T 1: 58,376,509 (GRCm39) V897L probably benign Het
Arl6 T A 16: 59,434,209 (GRCm39) probably null Het
Blnk G A 19: 40,917,660 (GRCm39) T441M probably damaging Het
Casp8ap2 C T 4: 32,644,590 (GRCm39) T1221I probably benign Het
Cdk14 A G 5: 5,086,484 (GRCm39) Y279H probably damaging Het
Cflar A T 1: 58,780,190 (GRCm39) I265F possibly damaging Het
Cilp TGGG TGG 9: 65,187,412 (GRCm39) probably null Het
Crb1 CG C 1: 139,164,824 (GRCm39) probably null Het
Cyp3a13 A T 5: 137,897,272 (GRCm39) Y347* probably null Het
Defa27 T C 8: 21,805,583 (GRCm39) S8P probably damaging Het
Depdc5 A C 5: 33,113,511 (GRCm39) probably null Het
Dlg5 A G 14: 24,216,323 (GRCm39) F573S probably damaging Het
Fam20c A T 5: 138,741,749 (GRCm39) E120V probably benign Het
Fam53a T C 5: 33,764,819 (GRCm39) K296E probably damaging Het
Fcna G C 2: 25,520,693 (GRCm39) probably benign Het
Fndc1 T C 17: 7,972,355 (GRCm39) T1526A possibly damaging Het
Gm14325 A C 2: 177,476,042 (GRCm39) probably null Het
Gm7582 G A 1: 85,019,588 (GRCm39) noncoding transcript Het
Golga7b A C 19: 42,255,239 (GRCm39) Y63S probably damaging Het
Hexb A G 13: 97,334,729 (GRCm39) L14P unknown Het
Hsd17b3 A C 13: 64,236,914 (GRCm39) L10R probably damaging Het
Il6st T C 13: 112,635,420 (GRCm39) F611L probably damaging Het
Ints13 T A 6: 146,457,646 (GRCm39) T411S possibly damaging Het
Kif18b C A 11: 102,799,146 (GRCm39) C685F probably damaging Het
Kif5c A G 2: 49,509,729 (GRCm39) N19S probably damaging Het
Lmbr1 G T 5: 29,497,221 (GRCm39) probably null Het
Minar1 A G 9: 89,484,792 (GRCm39) S202P probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mrc2 G A 11: 105,216,397 (GRCm39) R62Q probably benign Het
Myo1g T C 11: 6,458,183 (GRCm39) probably benign Het
Myo5a A T 9: 75,037,423 (GRCm39) probably benign Het
Nobox G A 6: 43,282,095 (GRCm39) S326L possibly damaging Het
Nsl1 C A 1: 190,795,300 (GRCm39) S22* probably null Het
Or5b3 A C 19: 13,388,826 (GRCm39) K298Q possibly damaging Het
Or5j3 T C 2: 86,128,823 (GRCm39) I221T probably damaging Het
Pdia3 T A 2: 121,260,037 (GRCm39) L192Q probably damaging Het
Pkd2 A T 5: 104,651,471 (GRCm39) R940* probably null Het
Plcd3 T A 11: 102,967,568 (GRCm39) Q458L probably benign Het
Polm T A 11: 5,786,343 (GRCm39) T75S probably benign Het
Pon3 T A 6: 5,232,330 (GRCm39) D230V possibly damaging Het
Pxdn A T 12: 30,053,113 (GRCm39) K917* probably null Het
Rad54l2 A G 9: 106,577,784 (GRCm39) S1046P probably benign Het
Rb1cc1 T C 1: 6,318,035 (GRCm39) probably null Het
Rnf215 A G 11: 4,086,785 (GRCm39) E194G probably damaging Het
Rorb A T 19: 18,915,336 (GRCm39) F441I probably damaging Het
Sel1l2 C A 2: 140,090,508 (GRCm39) G378V probably damaging Het
Sema6a G T 18: 47,431,281 (GRCm39) A139D probably damaging Het
Serpinb3d A T 1: 107,006,266 (GRCm39) M274K probably benign Het
Siglec15 A C 18: 78,092,462 (GRCm39) L32R probably damaging Het
Siglecg A T 7: 43,067,476 (GRCm39) D681V probably damaging Het
Slc6a13 G T 6: 121,303,066 (GRCm39) probably benign Het
Slc9b2 G T 3: 135,024,179 (GRCm39) A77S probably benign Het
Slit3 T A 11: 35,598,890 (GRCm39) V1498D probably damaging Het
Snorc A G 1: 87,402,926 (GRCm39) probably null Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Stxbp2 T C 8: 3,683,267 (GRCm39) probably benign Het
Tbc1d9b T C 11: 50,042,773 (GRCm39) S482P possibly damaging Het
Tec A G 5: 72,926,090 (GRCm39) S321P possibly damaging Het
Tenm3 A G 8: 48,688,381 (GRCm39) M2402T probably damaging Het
Thrap3 G A 4: 126,059,335 (GRCm39) probably null Het
Tm4sf1 A T 3: 57,200,537 (GRCm39) probably null Het
Tmcc1 T C 6: 116,019,889 (GRCm39) E306G probably damaging Het
Traf3ip3 A T 1: 192,877,182 (GRCm39) probably null Het
Utf1 C T 7: 139,523,875 (GRCm39) P30L possibly damaging Het
Wdfy3 A T 5: 102,077,847 (GRCm39) C880S probably damaging 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
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
R1536:Cbll1 UTSW 12 31,537,855 (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'- TGCTACACGTCACGACATAC -3'
(R):5'- AAAATTAAGGCCTGGTGTTGTAGAG -3'

Sequencing Primer
(F):5'- TACACGTCACGACATACTAAAAATC -3'
(R):5'- CCTGGTGTTGTAGAGGTAGGACTC -3'
Posted On 2017-02-08