Incidental Mutation 'IGL02829:Cobll1'
ID361353
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cobll1
Ensembl Gene ENSMUSG00000034903
Gene NameCobl-like 1
SynonymsD430044D16Rik, Coblr1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.234) question?
Stock #IGL02829
Quality Score
Status
Chromosome2
Chromosomal Location65088339-65239403 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 65126045 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 290 (K290E)
Ref Sequence ENSEMBL: ENSMUSP00000099787 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090896] [ENSMUST00000102726] [ENSMUST00000112429] [ENSMUST00000112430] [ENSMUST00000112431] [ENSMUST00000155916]
Predicted Effect probably damaging
Transcript: ENSMUST00000090896
AA Change: K290E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000088412
Gene: ENSMUSG00000034903
AA Change: K290E

DomainStartEndE-ValueType
low complexity region 147 158 N/A INTRINSIC
Pfam:Cobl 186 264 1.3e-38 PFAM
low complexity region 332 343 N/A INTRINSIC
low complexity region 426 438 N/A INTRINSIC
low complexity region 1023 1034 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000102726
AA Change: K290E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099787
Gene: ENSMUSG00000034903
AA Change: K290E

DomainStartEndE-ValueType
low complexity region 147 158 N/A INTRINSIC
Pfam:Cobl 186 264 5.6e-39 PFAM
low complexity region 332 343 N/A INTRINSIC
low complexity region 464 476 N/A INTRINSIC
low complexity region 1060 1071 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112429
AA Change: K290E

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108048
Gene: ENSMUSG00000034903
AA Change: K290E

DomainStartEndE-ValueType
Pfam:Cobl 148 239 5.4e-49 PFAM
low complexity region 332 343 N/A INTRINSIC
low complexity region 464 476 N/A INTRINSIC
low complexity region 1061 1072 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112430
AA Change: K289E

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108049
Gene: ENSMUSG00000034903
AA Change: K289E

DomainStartEndE-ValueType
low complexity region 146 157 N/A INTRINSIC
Pfam:Cobl 185 263 1.3e-38 PFAM
low complexity region 331 342 N/A INTRINSIC
low complexity region 425 437 N/A INTRINSIC
low complexity region 1022 1033 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112431
AA Change: K290E

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108050
Gene: ENSMUSG00000034903
AA Change: K290E

DomainStartEndE-ValueType
low complexity region 147 158 N/A INTRINSIC
Pfam:Cobl 186 264 5.6e-39 PFAM
low complexity region 332 343 N/A INTRINSIC
low complexity region 464 476 N/A INTRINSIC
low complexity region 1061 1072 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000155916
AA Change: K323E

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000115065
Gene: ENSMUSG00000034903
AA Change: K323E

DomainStartEndE-ValueType
low complexity region 7 24 N/A INTRINSIC
low complexity region 167 178 N/A INTRINSIC
Pfam:Cobl 206 297 2.4e-37 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bbs9 A G 9: 22,579,484 T303A probably damaging Het
Bet1 T A 6: 4,086,795 M1L probably benign Het
Bicc1 A C 10: 70,958,880 V149G probably damaging Het
Braf C A 6: 39,627,728 L655F possibly damaging Het
Cd101 A G 3: 101,018,565 probably benign Het
Col6a5 A T 9: 105,934,307 I671K unknown Het
D130052B06Rik A C 11: 33,623,864 T154P probably benign Het
Dglucy A C 12: 100,871,404 H602P probably damaging Het
Fbxo34 A G 14: 47,529,689 I220V probably benign Het
Gm42878 A G 5: 121,537,203 V101A probably damaging Het
Gsdmc4 A G 15: 63,892,648 L381P probably benign Het
Ifi208 C A 1: 173,682,840 P187H probably damaging Het
Lrrc37a A T 11: 103,491,174 C2473S unknown Het
Miip T A 4: 147,863,061 N214I probably benign Het
Mrc2 A G 11: 105,336,707 T589A possibly damaging Het
Mtss1 A G 15: 59,058,428 probably benign Het
Mypn T C 10: 63,192,586 R233G probably benign Het
Naip6 A T 13: 100,300,765 C417S probably benign Het
Olfr1084 T A 2: 86,639,255 Y151F possibly damaging Het
Olfr1216 A C 2: 89,013,677 L129W probably damaging Het
Olfr275 C T 4: 52,826,027 P210L probably damaging Het
Pcsk1 T C 13: 75,126,836 Y515H probably damaging Het
Pla2g2e T A 4: 138,880,436 Y42* probably null Het
Polh A T 17: 46,172,902 L479Q possibly damaging Het
Prr36 T A 8: 4,215,278 R157S possibly damaging Het
Reck T A 4: 43,891,014 C51S probably damaging Het
Rev3l A G 10: 39,825,240 D1911G probably damaging Het
Scgb1b27 A T 7: 34,021,748 probably null Het
Sema4g G A 19: 44,992,749 R47Q possibly damaging Het
Serinc1 A T 10: 57,523,965 Y158* probably null Het
Slc15a2 C A 16: 36,757,193 G435C possibly damaging Het
Tbc1d17 C A 7: 44,848,872 probably benign Het
Tenm4 C T 7: 96,894,998 Q2074* probably null Het
Tns3 A G 11: 8,519,564 C244R probably damaging Het
Vmn2r2 A T 3: 64,118,751 probably benign Het
Vmn2r44 T A 7: 8,377,880 Q338L possibly damaging Het
Wdr70 C T 15: 7,976,982 D363N possibly damaging Het
Yipf7 A T 5: 69,541,091 S24R probably benign Het
Other mutations in Cobll1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00789:Cobll1 APN 2 65126013 missense probably damaging 1.00
IGL01074:Cobll1 APN 2 65107848 missense probably damaging 1.00
IGL01093:Cobll1 APN 2 65098237 missense probably damaging 1.00
IGL02411:Cobll1 APN 2 65097740 missense probably damaging 1.00
IGL02419:Cobll1 APN 2 65151048 missense probably damaging 1.00
IGL02550:Cobll1 APN 2 65107863 missense probably damaging 1.00
IGL02607:Cobll1 APN 2 65151085 missense probably damaging 0.98
IGL02802:Cobll1 UTSW 2 65098319 missense probably damaging 0.99
R0313:Cobll1 UTSW 2 65095744 nonsense probably null
R0314:Cobll1 UTSW 2 65089521 missense possibly damaging 0.81
R0322:Cobll1 UTSW 2 65102098 missense possibly damaging 0.84
R0846:Cobll1 UTSW 2 65102065 splice site probably null
R1163:Cobll1 UTSW 2 65098279 missense probably damaging 0.96
R1242:Cobll1 UTSW 2 65151169 critical splice acceptor site probably null
R1364:Cobll1 UTSW 2 65126310 splice site probably benign
R1445:Cobll1 UTSW 2 65099136 missense probably damaging 1.00
R1610:Cobll1 UTSW 2 65133642 missense probably damaging 1.00
R1836:Cobll1 UTSW 2 65126236 missense probably damaging 1.00
R2102:Cobll1 UTSW 2 65098210 missense probably damaging 1.00
R3154:Cobll1 UTSW 2 65107050 missense probably benign 0.00
R4580:Cobll1 UTSW 2 65151073 missense probably benign 0.00
R4638:Cobll1 UTSW 2 65099237 missense probably benign 0.03
R4684:Cobll1 UTSW 2 65099028 missense possibly damaging 0.90
R4906:Cobll1 UTSW 2 65097693 missense probably benign 0.01
R4923:Cobll1 UTSW 2 65099258 missense possibly damaging 0.87
R5100:Cobll1 UTSW 2 65125901 missense probably benign 0.26
R5269:Cobll1 UTSW 2 65133771 nonsense probably null
R5419:Cobll1 UTSW 2 65103357 missense possibly damaging 0.57
R5637:Cobll1 UTSW 2 65125903 missense possibly damaging 0.90
R5745:Cobll1 UTSW 2 65098457 missense probably damaging 0.99
R5777:Cobll1 UTSW 2 65103268 missense probably benign 0.27
R6303:Cobll1 UTSW 2 65098033 missense possibly damaging 0.68
R6471:Cobll1 UTSW 2 65107884 missense probably damaging 1.00
X0020:Cobll1 UTSW 2 65103322 missense probably benign 0.00
Posted On2015-12-18