Incidental Mutation 'R1610:Cobll1'
ID 176710
Institutional Source Beutler Lab
Gene Symbol Cobll1
Ensembl Gene ENSMUSG00000034903
Gene Name Cobl-like 1
Synonyms Coblr1, D430044D16Rik
MMRRC Submission 039647-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.284) question?
Stock # R1610 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 64918683-65069742 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 64963986 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 211 (D211N)
Ref Sequence ENSEMBL: ENSMUSP00000108049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090896] [ENSMUST00000102726] [ENSMUST00000112429] [ENSMUST00000112430] [ENSMUST00000112431] [ENSMUST00000155916] [ENSMUST00000156643] [ENSMUST00000155082]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000090896
AA Change: D212N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088412
Gene: ENSMUSG00000034903
AA Change: D212N

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: D212N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099787
Gene: ENSMUSG00000034903
AA Change: D212N

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: D212N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108048
Gene: ENSMUSG00000034903
AA Change: D212N

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: D211N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108049
Gene: ENSMUSG00000034903
AA Change: D211N

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: D212N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108050
Gene: ENSMUSG00000034903
AA Change: D212N

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: ENSMUST00000132478
Predicted Effect probably damaging
Transcript: ENSMUST00000155916
AA Change: D232N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000115065
Gene: ENSMUSG00000034903
AA Change: D232N

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 benign
Transcript: ENSMUST00000156643
SMART Domains Protein: ENSMUSP00000114447
Gene: ENSMUSG00000034903

DomainStartEndE-ValueType
low complexity region 124 135 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000155082
SMART Domains Protein: ENSMUSP00000116196
Gene: ENSMUSG00000034903

DomainStartEndE-ValueType
SCOP:d1ijha1 2 74 3e-3 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd5 G A 2: 22,980,563 (GRCm39) C312Y probably damaging Het
Adgrl1 T A 8: 84,659,002 (GRCm39) M601K probably benign Het
Agbl4 G A 4: 111,514,365 (GRCm39) E459K probably benign Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
Casz1 C T 4: 149,013,544 (GRCm39) A36V possibly damaging Het
Cfap20dc G T 14: 8,511,110 (GRCm38) H435N probably benign Het
Chpf A G 1: 75,453,292 (GRCm39) V327A probably damaging Het
Cldn23 A G 8: 36,293,084 (GRCm39) Y135H probably damaging Het
Cramp1 A G 17: 25,202,925 (GRCm39) V368A probably benign Het
Dnah6 T C 6: 73,121,946 (GRCm39) T1374A probably benign Het
Dpyd A G 3: 118,858,655 (GRCm39) H623R probably benign Het
Dyrk2 T C 10: 118,695,830 (GRCm39) N476S probably benign Het
Endog A T 2: 30,063,899 (GRCm39) I267F probably damaging Het
Ephb6 A T 6: 41,591,307 (GRCm39) K155* probably null Het
Far2 T C 6: 148,058,956 (GRCm39) V214A possibly damaging Het
Fat2 A G 11: 55,169,750 (GRCm39) V3003A probably damaging Het
Frg2f1 T A 4: 119,388,485 (GRCm39) T5S possibly damaging Het
Gm14496 A T 2: 181,637,972 (GRCm39) T349S probably benign Het
Golgb1 A G 16: 36,746,463 (GRCm39) T2951A probably benign Het
Hc G T 2: 34,896,173 (GRCm39) D1203E probably benign Het
Isg20 C A 7: 78,564,257 (GRCm39) Q55K possibly damaging Het
Jph4 G T 14: 55,351,560 (GRCm39) A152E probably damaging Het
Kcnq3 T C 15: 65,897,109 (GRCm39) T264A probably damaging Het
Kcnq5 T G 1: 21,527,685 (GRCm39) T463P probably damaging Het
Klra8 A G 6: 130,095,981 (GRCm39) S204P probably damaging Het
Ldlrad1 A G 4: 107,072,072 (GRCm39) D98G probably damaging Het
Lhfpl4 T C 6: 113,171,097 (GRCm39) T30A possibly damaging Het
Lig1 T A 7: 13,019,266 (GRCm39) L80Q probably damaging Het
Lmbrd2 A G 15: 9,186,699 (GRCm39) Y558C probably benign Het
Lrrn3 G T 12: 41,502,992 (GRCm39) L442I possibly damaging Het
Mc2r A G 18: 68,540,519 (GRCm39) F258S probably damaging Het
Mmp16 A G 4: 18,011,582 (GRCm39) T137A probably benign Het
Nfatc2ip A T 7: 125,986,579 (GRCm39) S359T probably damaging Het
Nup214 C T 2: 31,924,478 (GRCm39) S1669F probably damaging Het
Nup50l G T 6: 96,142,270 (GRCm39) P258Q probably damaging Het
Or10a48 T A 7: 108,425,131 (GRCm39) H25L probably benign Het
Or4c15b T C 2: 89,113,165 (GRCm39) H104R probably damaging Het
Or4s2b A T 2: 88,508,918 (GRCm39) K233* probably null Het
Or8b1b C T 9: 38,375,927 (GRCm39) L197F probably damaging Het
Pacc1 A G 1: 191,077,262 (GRCm39) D195G probably benign Het
Plagl1 C T 10: 13,004,706 (GRCm39) probably benign Het
Plxnb2 A T 15: 89,042,696 (GRCm39) S1531T probably damaging Het
Ptpn22 G A 3: 103,809,512 (GRCm39) probably null Het
Rtn1 T A 12: 72,266,053 (GRCm39) Q174L possibly damaging Het
Selenoo A G 15: 88,984,119 (GRCm39) E645G probably benign Het
Serpina1a A C 12: 103,820,096 (GRCm39) D383E possibly damaging Het
Slc6a18 T A 13: 73,816,344 (GRCm39) Y345F probably benign Het
Smbd1 A G 16: 32,627,135 (GRCm39) V51A possibly damaging Het
Tchh C T 3: 93,352,146 (GRCm39) R529W unknown Het
Tonsl A T 15: 76,522,757 (GRCm39) Y165N probably damaging Het
Trdmt1 G A 2: 13,520,870 (GRCm39) T344I probably damaging Het
Ubash3b C A 9: 40,954,796 (GRCm39) R116L probably damaging Het
Vmn2r94 A G 17: 18,463,995 (GRCm39) V765A probably damaging Het
Zfp474 C T 18: 52,771,437 (GRCm39) T30I probably benign 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
IGL02419:Cobll1 APN 2 64,981,392 (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
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
Predicted Primers PCR Primer
(F):5'- CCAAGATGGGCATCCTGATGAGAC -3'
(R):5'- CATGTGCCACAGAATCGAGAGTCG -3'

Sequencing Primer
(F):5'- cctgatgagaccccatcataaaaaTG -3'
(R):5'- AATCGAGAGTCGGTTATTCTAGGTG -3'
Posted On 2014-04-24