Incidental Mutation 'IGL02419:Cobll1'
ID 292596
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cobll1
Ensembl Gene ENSMUSG00000034903
Gene Name Cobl-like 1
Synonyms Coblr1, D430044D16Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.284) question?
Stock # IGL02419
Quality Score
Status
Chromosome 2
Chromosomal Location 64918683-65069742 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 64981392 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 98 (I98K)
Ref Sequence ENSEMBL: ENSMUSP00000116196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090896] [ENSMUST00000102726] [ENSMUST00000112429] [ENSMUST00000112430] [ENSMUST00000112431] [ENSMUST00000156643] [ENSMUST00000155916] [ENSMUST00000155082]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000090896
AA Change: I66K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000088412
Gene: ENSMUSG00000034903
AA Change: I66K

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: I66K

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099787
Gene: ENSMUSG00000034903
AA Change: I66K

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: I66K

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108048
Gene: ENSMUSG00000034903
AA Change: I66K

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 possibly damaging
Transcript: ENSMUST00000112430
AA Change: I65K

PolyPhen 2 Score 0.657 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000108049
Gene: ENSMUSG00000034903
AA Change: I65K

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: I66K

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108050
Gene: ENSMUSG00000034903
AA Change: I66K

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 noncoding transcript
Transcript: ENSMUST00000124769
Predicted Effect possibly damaging
Transcript: ENSMUST00000156643
AA Change: I43K

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000114447
Gene: ENSMUSG00000034903
AA Change: I43K

DomainStartEndE-ValueType
low complexity region 124 135 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000155916
AA Change: I86K

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000115065
Gene: ENSMUSG00000034903
AA Change: I86K

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
Predicted Effect probably damaging
Transcript: ENSMUST00000155082
AA Change: I98K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000116196
Gene: ENSMUSG00000034903
AA Change: I98K

DomainStartEndE-ValueType
SCOP:d1ijha1 2 74 3e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132979
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136537
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132478
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik T C 8: 88,312,727 (GRCm39) F171L possibly damaging Het
Abca2 A G 2: 25,336,849 (GRCm39) N2291D probably benign Het
Adamts9 A G 6: 92,773,978 (GRCm39) V1145A probably benign Het
Adcy2 A G 13: 69,130,482 (GRCm39) V135A probably benign Het
Akr1c14 A T 13: 4,130,617 (GRCm39) probably null Het
Aptx G T 4: 40,691,032 (GRCm39) A229E probably benign Het
Ash1l T C 3: 88,892,872 (GRCm39) S1584P probably benign Het
Catsper3 A T 13: 55,955,881 (GRCm39) T329S possibly damaging Het
Cntrl A G 2: 35,024,055 (GRCm39) D27G probably damaging Het
Ctdp1 T C 18: 80,463,799 (GRCm39) K79R probably damaging Het
Cwf19l2 T C 9: 3,418,777 (GRCm39) probably null Het
Cyp11b2 A T 15: 74,722,904 (GRCm39) F498Y probably damaging Het
Dnpep A G 1: 75,292,332 (GRCm39) I162T probably damaging Het
Efcab9 T C 11: 32,472,950 (GRCm39) I166V probably benign Het
Ep400 A T 5: 110,845,242 (GRCm39) probably null Het
Gata6 G A 18: 11,054,220 (GRCm39) G50R probably damaging Het
Gm9631 G A 11: 121,834,478 (GRCm39) Het
Grifin T C 5: 140,550,455 (GRCm39) T20A probably benign Het
Hnf4a A T 2: 163,408,202 (GRCm39) I352F probably damaging Het
Ifi204 T C 1: 173,576,946 (GRCm39) T552A possibly damaging Het
Ifi205 C T 1: 173,845,180 (GRCm39) A201T probably damaging Het
Kcnk6 A G 7: 28,924,627 (GRCm39) V259A probably benign Het
Kif21b A G 1: 136,079,005 (GRCm39) N451S probably benign Het
Klhl24 T A 16: 19,926,118 (GRCm39) Y215* probably null Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Mical1 A G 10: 41,358,273 (GRCm39) K429E possibly damaging Het
Misp A G 10: 79,663,705 (GRCm39) probably benign Het
Mon2 T C 10: 122,852,352 (GRCm39) N1007S probably benign Het
Or10v1 A T 19: 11,874,186 (GRCm39) Y267F probably benign Het
Or14a260 C A 7: 85,984,870 (GRCm39) V245F probably damaging Het
Or51v8 A T 7: 103,319,682 (GRCm39) C185* probably null Het
Or8k41 T A 2: 86,313,259 (GRCm39) I276F probably damaging Het
Pex6 C A 17: 47,035,361 (GRCm39) T840N possibly damaging Het
Prox1 C T 1: 189,893,327 (GRCm39) A373T probably benign Het
Rapgef3 G T 15: 97,648,171 (GRCm39) N679K probably benign Het
Serpina3n T C 12: 104,379,777 (GRCm39) V390A possibly damaging Het
Sirpb1a A G 3: 15,491,398 (GRCm39) F23S probably benign Het
Slc44a3 T C 3: 121,283,906 (GRCm39) T449A probably benign Het
Smad6 G A 9: 63,860,800 (GRCm39) probably benign Het
Sos2 C T 12: 69,663,764 (GRCm39) M573I probably benign Het
St8sia1 A T 6: 142,774,661 (GRCm39) I306N probably damaging Het
Tnks1bp1 T C 2: 84,902,125 (GRCm39) S1674P possibly damaging Het
Trim47 G A 11: 115,997,027 (GRCm39) R576W probably damaging Het
Wdr86 A T 5: 24,927,702 (GRCm39) I79N probably damaging Het
Wwp2 T A 8: 108,276,447 (GRCm39) V473D probably damaging Het
Zc3h12a T C 4: 125,013,581 (GRCm39) T428A probably benign Het
Zfp592 A G 7: 80,687,993 (GRCm39) E973G probably damaging Het
Other mutations in Cobll1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00789:Cobll1 APN 2 64,956,357 (GRCm39) missense probably damaging 1.00
IGL01074:Cobll1 APN 2 64,938,192 (GRCm39) missense probably damaging 1.00
IGL01093:Cobll1 APN 2 64,928,581 (GRCm39) missense probably damaging 1.00
IGL02411:Cobll1 APN 2 64,928,084 (GRCm39) missense probably damaging 1.00
IGL02550:Cobll1 APN 2 64,938,207 (GRCm39) missense probably damaging 1.00
IGL02607:Cobll1 APN 2 64,981,429 (GRCm39) missense probably damaging 0.98
IGL02829:Cobll1 APN 2 64,956,389 (GRCm39) missense probably damaging 1.00
IGL02802:Cobll1 UTSW 2 64,928,663 (GRCm39) missense probably damaging 0.99
R0313:Cobll1 UTSW 2 64,926,088 (GRCm39) nonsense probably null
R0314:Cobll1 UTSW 2 64,919,865 (GRCm39) missense possibly damaging 0.81
R0322:Cobll1 UTSW 2 64,932,442 (GRCm39) missense possibly damaging 0.84
R0846:Cobll1 UTSW 2 64,932,409 (GRCm39) splice site probably null
R1163:Cobll1 UTSW 2 64,928,623 (GRCm39) missense probably damaging 0.96
R1242:Cobll1 UTSW 2 64,981,513 (GRCm39) critical splice acceptor site probably null
R1364:Cobll1 UTSW 2 64,956,654 (GRCm39) splice site probably benign
R1445:Cobll1 UTSW 2 64,929,480 (GRCm39) missense probably damaging 1.00
R1610:Cobll1 UTSW 2 64,963,986 (GRCm39) missense probably damaging 1.00
R1836:Cobll1 UTSW 2 64,956,580 (GRCm39) missense probably damaging 1.00
R2102:Cobll1 UTSW 2 64,928,554 (GRCm39) missense probably damaging 1.00
R3154:Cobll1 UTSW 2 64,937,394 (GRCm39) missense probably benign 0.00
R4580:Cobll1 UTSW 2 64,981,417 (GRCm39) missense probably benign 0.00
R4638:Cobll1 UTSW 2 64,929,581 (GRCm39) missense probably benign 0.03
R4684:Cobll1 UTSW 2 64,929,372 (GRCm39) missense possibly damaging 0.90
R4906:Cobll1 UTSW 2 64,928,037 (GRCm39) missense probably benign 0.01
R4923:Cobll1 UTSW 2 64,929,602 (GRCm39) missense possibly damaging 0.87
R5100:Cobll1 UTSW 2 64,956,245 (GRCm39) missense probably benign 0.26
R5269:Cobll1 UTSW 2 64,964,115 (GRCm39) nonsense probably null
R5419:Cobll1 UTSW 2 64,933,701 (GRCm39) missense possibly damaging 0.57
R5637:Cobll1 UTSW 2 64,956,247 (GRCm39) missense possibly damaging 0.90
R5745:Cobll1 UTSW 2 64,928,801 (GRCm39) missense probably damaging 0.99
R5777:Cobll1 UTSW 2 64,933,612 (GRCm39) missense probably benign 0.27
R6303:Cobll1 UTSW 2 64,928,377 (GRCm39) missense possibly damaging 0.68
R6471:Cobll1 UTSW 2 64,938,228 (GRCm39) missense probably damaging 1.00
R7027:Cobll1 UTSW 2 64,919,847 (GRCm39) missense probably benign 0.00
R7132:Cobll1 UTSW 2 64,964,112 (GRCm39) missense probably damaging 1.00
R7197:Cobll1 UTSW 2 64,928,882 (GRCm39) missense probably benign 0.00
R7365:Cobll1 UTSW 2 64,928,717 (GRCm39) missense probably damaging 0.99
R7607:Cobll1 UTSW 2 64,926,201 (GRCm39) missense probably benign 0.02
R7899:Cobll1 UTSW 2 64,956,275 (GRCm39) missense probably damaging 1.00
R7996:Cobll1 UTSW 2 64,981,329 (GRCm39) missense possibly damaging 0.93
R8175:Cobll1 UTSW 2 64,929,575 (GRCm39) missense probably benign
R8212:Cobll1 UTSW 2 64,932,424 (GRCm39) missense probably benign 0.08
R8549:Cobll1 UTSW 2 64,928,794 (GRCm39) missense probably damaging 1.00
R8832:Cobll1 UTSW 2 64,929,602 (GRCm39) missense probably damaging 1.00
R9189:Cobll1 UTSW 2 64,981,333 (GRCm39) missense probably damaging 1.00
R9253:Cobll1 UTSW 2 64,981,503 (GRCm39) missense probably benign 0.10
R9273:Cobll1 UTSW 2 64,929,356 (GRCm39) missense probably damaging 1.00
R9309:Cobll1 UTSW 2 64,956,271 (GRCm39) missense probably damaging 0.96
R9332:Cobll1 UTSW 2 64,933,516 (GRCm39) missense probably benign
R9469:Cobll1 UTSW 2 64,966,774 (GRCm39) missense probably damaging 1.00
X0020:Cobll1 UTSW 2 64,933,666 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16