Incidental Mutation 'R7365:Cobll1'
ID 571677
Institutional Source Beutler Lab
Gene Symbol Cobll1
Ensembl Gene ENSMUSG00000034903
Gene Name Cobl-like 1
Synonyms Coblr1, D430044D16Rik
MMRRC Submission 045449-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.254) question?
Stock # R7365 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 64918683-65069742 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 64928717 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 870 (S870T)
Ref Sequence ENSEMBL: ENSMUSP00000088412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090896] [ENSMUST00000102726] [ENSMUST00000112429] [ENSMUST00000112430] [ENSMUST00000112431]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000090896
AA Change: S870T

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000088412
Gene: ENSMUSG00000034903
AA Change: S870T

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: S907T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099787
Gene: ENSMUSG00000034903
AA Change: S907T

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: S908T

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000108048
Gene: ENSMUSG00000034903
AA Change: S908T

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: S869T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108049
Gene: ENSMUSG00000034903
AA Change: S869T

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: S908T

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000108050
Gene: ENSMUSG00000034903
AA Change: S908T

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
Meta Mutation Damage Score 0.1502 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (96/96)
Allele List at MGI
Other mutations in this stock
Total: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T C 5: 138,561,198 (GRCm39) S155G probably benign Het
Abcc4 T C 14: 118,865,066 (GRCm39) N320S probably damaging Het
Akr1c19 G A 13: 4,287,069 (GRCm39) R96H probably benign Het
Ankrd17 T C 5: 90,439,010 (GRCm39) D451G possibly damaging Het
Ano8 T A 8: 71,937,754 (GRCm39) D36V probably damaging Het
Aqp3 A G 4: 41,098,003 (GRCm39) V36A probably benign Het
Atf7ip A G 6: 136,537,708 (GRCm39) T314A probably benign Het
Atp2c1 A T 9: 105,300,198 (GRCm39) D700E probably damaging Het
Axin2 G A 11: 108,830,202 (GRCm39) V341M possibly damaging Het
Bin3 A G 14: 70,371,976 (GRCm39) Q139R probably damaging Het
Brca2 A G 5: 150,455,802 (GRCm39) D181G probably damaging Het
Capn3 A G 2: 120,325,295 (GRCm39) E466G probably damaging Het
Ccdc14 T A 16: 34,543,989 (GRCm39) Y830* probably null Het
Cdk12 T C 11: 98,111,910 (GRCm39) F723L unknown Het
Cep89 G A 7: 35,129,353 (GRCm39) R630H probably damaging Het
Cip2a T A 16: 48,822,016 (GRCm39) S215T probably benign Het
Clca3a2 T A 3: 144,804,545 (GRCm39) I61F probably damaging Het
Clca4b T C 3: 144,628,529 (GRCm39) T393A not run Het
Cldn5 G A 16: 18,595,845 (GRCm39) A34T probably damaging Het
Col12a1 T C 9: 79,613,642 (GRCm39) K68E probably damaging Het
Crnn A T 3: 93,055,841 (GRCm39) Q209L probably damaging Het
Cwf19l1 A T 19: 44,120,579 (GRCm39) F45I probably damaging Het
Cyfip2 T A 11: 46,098,267 (GRCm39) K1052* probably null Het
D930020B18Rik G A 10: 121,503,716 (GRCm39) probably null Het
Dcc G A 18: 71,959,194 (GRCm39) P193S probably damaging Het
Dda1 T A 8: 71,927,137 (GRCm39) C48S probably benign Het
Disc1 A G 8: 125,881,780 (GRCm39) R572G probably damaging Het
Dnah7a A T 1: 53,536,297 (GRCm39) M2582K probably benign Het
Dsel C T 1: 111,789,303 (GRCm39) G411S probably damaging Het
Dynlrb2 T C 8: 117,241,696 (GRCm39) V80A probably benign Het
Eif3a A T 19: 60,755,082 (GRCm39) D1033E unknown Het
Enam C A 5: 88,649,347 (GRCm39) H285Q possibly damaging Het
Ep400 T C 5: 110,867,480 (GRCm39) D980G unknown Het
Epha7 C T 4: 28,871,937 (GRCm39) S422L probably benign Het
Erc2 A C 14: 27,762,346 (GRCm39) D703A probably damaging Het
Ezh2 G T 6: 47,510,692 (GRCm39) S639* probably null Het
Fbn1 G A 2: 125,193,969 (GRCm39) H1333Y probably damaging Het
Flad1 A G 3: 89,315,972 (GRCm39) S197P possibly damaging Het
Foxl3 A G 5: 138,806,736 (GRCm39) H82R probably damaging Het
Gfm2 G T 13: 97,279,529 (GRCm39) C26F probably benign Het
Golga2 C T 2: 32,193,013 (GRCm39) Q444* probably null Het
Gp5 A T 16: 30,127,426 (GRCm39) V416D probably damaging Het
Gpat2 A G 2: 127,268,901 (GRCm39) probably null Het
Gpr137c A G 14: 45,516,471 (GRCm39) D353G probably damaging Het
Hoxa13 A C 6: 52,236,862 (GRCm39) W133G probably damaging Het
Hydin A T 8: 111,284,294 (GRCm39) I3189F probably damaging Het
Hydin A T 8: 111,327,905 (GRCm39) K4804M probably damaging Het
Ice2 T C 9: 69,307,794 (GRCm39) F26S probably damaging Het
Ints11 T C 4: 155,956,687 (GRCm39) probably null Het
Ipo5 A G 14: 121,157,497 (GRCm39) I112V probably benign Het
Itgax T A 7: 127,734,481 (GRCm39) S346R probably damaging Het
Kcnj13 T A 1: 87,316,739 (GRCm39) M125L probably damaging Het
Lmbrd1 T A 1: 24,783,948 (GRCm39) V359E possibly damaging Het
Lrrc7 T G 3: 157,903,798 (GRCm39) K287N probably damaging Het
Mau2 C T 8: 70,481,884 (GRCm39) A191T possibly damaging Het
Mkx C A 18: 7,000,747 (GRCm39) R65L possibly damaging Het
Mroh4 T A 15: 74,482,220 (GRCm39) K746* probably null Het
Myh4 A G 11: 67,133,674 (GRCm39) T238A probably damaging Het
Nlrp9c T A 7: 26,070,822 (GRCm39) N920Y possibly damaging Het
Nr4a3 T G 4: 48,051,290 (GRCm39) S15A possibly damaging Het
Ntn4 T C 10: 93,480,666 (GRCm39) L130P probably damaging Het
Or2ag13 A G 7: 106,313,171 (GRCm39) V239A probably benign Het
Or4a68 A G 2: 89,270,542 (GRCm39) V27A probably benign Het
Or4f59 A T 2: 111,873,359 (GRCm39) V6E possibly damaging Het
Or56a42-ps1 T A 7: 104,777,552 (GRCm39) I21F probably benign Het
Or8d23 A T 9: 38,842,072 (GRCm39) I202F probably damaging Het
Otog T C 7: 45,947,732 (GRCm39) L110P probably damaging Het
Platr25 G A 13: 62,848,719 (GRCm39) H48Y probably benign Het
Plcxd2 T C 16: 45,800,789 (GRCm39) E145G probably damaging Het
Pltp A T 2: 164,696,242 (GRCm39) N143K probably damaging Het
Pnpt1 T C 11: 29,111,334 (GRCm39) Y735H probably damaging Het
Prom1 A G 5: 44,178,173 (GRCm39) Y520H probably damaging Het
Rag2 A G 2: 101,461,118 (GRCm39) Y476C probably damaging Het
Rdh16f2 A G 10: 127,712,893 (GRCm39) Y297C probably damaging Het
Ryr1 T C 7: 28,785,180 (GRCm39) E1844G probably benign Het
Ryr2 A G 13: 11,655,161 (GRCm39) C3679R probably damaging Het
Sirt1 A G 10: 63,157,782 (GRCm39) I544T probably benign Het
Slc26a10 A T 10: 127,012,716 (GRCm39) I382N possibly damaging Het
Sox2 C A 3: 34,705,121 (GRCm39) P186Q possibly damaging Het
Spata31e5 A T 1: 28,819,233 (GRCm39) M16K probably benign Het
Tnpo3 A G 6: 29,556,995 (GRCm39) L752P probably damaging Het
Top2b T A 14: 16,416,649 (GRCm38) N1136K probably benign Het
Tpsg1 G T 17: 25,592,184 (GRCm39) G86V probably damaging Het
Ttf2 C A 3: 100,870,618 (GRCm39) D152Y possibly damaging Het
Txndc15 T C 13: 55,862,601 (GRCm39) L4P unknown Het
Unc5a T C 13: 55,144,386 (GRCm39) V237A possibly damaging Het
Urb1 CACTTAC CAC 16: 90,569,461 (GRCm39) probably benign Het
Vav3 C A 3: 109,535,415 (GRCm39) P616T possibly damaging Het
Vmn2r15 T A 5: 109,441,105 (GRCm39) D251V probably benign Het
Vmn2r15 A G 5: 109,445,388 (GRCm39) L12S probably benign Het
Wfs1 A C 5: 37,125,076 (GRCm39) I605S probably benign Het
Wif1 G A 10: 120,919,814 (GRCm39) R187Q possibly damaging Het
Yipf1 A G 4: 107,207,738 (GRCm39) probably null Het
Zdhhc20 G T 14: 58,111,377 (GRCm39) F74L possibly damaging Het
Zfp507 T C 7: 35,475,843 (GRCm39) T303A unknown Het
Zfp763 A T 17: 33,252,352 (GRCm39) 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
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
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'- GGAGCAGAGTGAGTCCTTTC -3'
(R):5'- GCCTCAGCCTGACCTTAAAC -3'

Sequencing Primer
(F):5'- CCTTTCACTTAAGGAAGAAGGATGC -3'
(R):5'- TTAAACCAAAGCCCAGCTCAGG -3'
Posted On 2019-09-13