Incidental Mutation 'R5643:Cobl'
ID 440876
Institutional Source Beutler Lab
Gene Symbol Cobl
Ensembl Gene ENSMUSG00000020173
Gene Name cordon-bleu WH2 repeat
Synonyms C530045F18Rik
MMRRC Submission 043291-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5643 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 12186676-12415022 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 12256948 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133470 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046755] [ENSMUST00000109650] [ENSMUST00000109651] [ENSMUST00000172827] [ENSMUST00000172919] [ENSMUST00000174874] [ENSMUST00000172956]
AlphaFold Q5NBX1
Predicted Effect probably benign
Transcript: ENSMUST00000046755
SMART Domains Protein: ENSMUSP00000045693
Gene: ENSMUSG00000020173

DomainStartEndE-ValueType
low complexity region 14 30 N/A INTRINSIC
Pfam:Cobl 144 235 2.2e-46 PFAM
low complexity region 328 333 N/A INTRINSIC
low complexity region 360 376 N/A INTRINSIC
low complexity region 408 433 N/A INTRINSIC
low complexity region 468 482 N/A INTRINSIC
low complexity region 526 541 N/A INTRINSIC
coiled coil region 564 589 N/A INTRINSIC
WH2 1185 1205 1.32e0 SMART
WH2 1225 1245 6.36e-3 SMART
low complexity region 1276 1296 N/A INTRINSIC
WH2 1313 1333 3.91e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109650
SMART Domains Protein: ENSMUSP00000105277
Gene: ENSMUSG00000020173

DomainStartEndE-ValueType
low complexity region 14 30 N/A INTRINSIC
Pfam:Cobl 182 260 1.6e-40 PFAM
low complexity region 303 308 N/A INTRINSIC
low complexity region 335 351 N/A INTRINSIC
low complexity region 386 400 N/A INTRINSIC
low complexity region 444 459 N/A INTRINSIC
coiled coil region 482 507 N/A INTRINSIC
WH2 1103 1123 1.32e0 SMART
WH2 1143 1163 6.36e-3 SMART
low complexity region 1194 1214 N/A INTRINSIC
WH2 1231 1251 3.91e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109651
SMART Domains Protein: ENSMUSP00000105278
Gene: ENSMUSG00000020173

DomainStartEndE-ValueType
low complexity region 14 30 N/A INTRINSIC
Pfam:Cobl 182 260 1.2e-40 PFAM
low complexity region 303 308 N/A INTRINSIC
low complexity region 335 351 N/A INTRINSIC
low complexity region 383 408 N/A INTRINSIC
low complexity region 443 457 N/A INTRINSIC
low complexity region 501 516 N/A INTRINSIC
coiled coil region 539 564 N/A INTRINSIC
WH2 1160 1180 1.32e0 SMART
WH2 1200 1220 6.36e-3 SMART
low complexity region 1251 1271 N/A INTRINSIC
WH2 1288 1308 3.91e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130572
Predicted Effect probably benign
Transcript: ENSMUST00000136549
SMART Domains Protein: ENSMUSP00000114779
Gene: ENSMUSG00000020173

DomainStartEndE-ValueType
low complexity region 83 88 N/A INTRINSIC
low complexity region 115 131 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172827
SMART Domains Protein: ENSMUSP00000133368
Gene: ENSMUSG00000020173

DomainStartEndE-ValueType
Pfam:Cobl 1 32 1.2e-9 PFAM
low complexity region 100 105 N/A INTRINSIC
low complexity region 132 148 N/A INTRINSIC
low complexity region 183 197 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172919
SMART Domains Protein: ENSMUSP00000133669
Gene: ENSMUSG00000020173

DomainStartEndE-ValueType
low complexity region 14 30 N/A INTRINSIC
Pfam:Cobl 182 260 2.6e-41 PFAM
low complexity region 328 333 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174874
SMART Domains Protein: ENSMUSP00000133470
Gene: ENSMUSG00000020173

DomainStartEndE-ValueType
low complexity region 6 23 N/A INTRINSIC
Pfam:Cobl 175 253 1.2e-40 PFAM
low complexity region 321 326 N/A INTRINSIC
low complexity region 353 369 N/A INTRINSIC
low complexity region 401 426 N/A INTRINSIC
low complexity region 461 475 N/A INTRINSIC
low complexity region 519 534 N/A INTRINSIC
coiled coil region 557 582 N/A INTRINSIC
WH2 1178 1198 1.32e0 SMART
WH2 1218 1238 6.36e-3 SMART
low complexity region 1269 1289 N/A INTRINSIC
WH2 1306 1326 3.91e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172956
SMART Domains Protein: ENSMUSP00000134372
Gene: ENSMUSG00000020173

DomainStartEndE-ValueType
low complexity region 14 30 N/A INTRINSIC
Pfam:Cobl 182 260 2.4e-41 PFAM
low complexity region 303 308 N/A INTRINSIC
low complexity region 335 351 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 94% (110/117)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains WH2 domains (WASP, Wiskott-Aldrich syndrome protein, homology domain-2) that interact with actin. The encoded actin regulator protein is required for growth and assembly of brush border microvilli that play a role in maintaining intestinal homeostasis. A similar protein in mouse functions in midbrain neural tube closure. A pseudogene of this gene is located on chromosome X. [provided by RefSeq, Oct 2016]
PHENOTYPE: Animals homozygous for this mutation do not display a phenotype. However, the allele exacerbates the neural tube defects seen in the loop tail mouse. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A G 19: 8,988,021 (GRCm39) K3102E possibly damaging Het
Akap13 T C 7: 75,351,902 (GRCm39) probably null Het
Akp3 A T 1: 87,055,485 (GRCm39) T511S unknown Het
Alkal2 T A 12: 30,934,889 (GRCm39) L36Q probably damaging Het
Arhgef17 A T 7: 100,529,218 (GRCm39) V523E probably damaging Het
Asah1 G T 8: 41,813,332 (GRCm39) T27K possibly damaging Het
Bag2 A G 1: 33,786,034 (GRCm39) V96A probably damaging Het
Bicd1 C T 6: 149,421,901 (GRCm39) A874V probably damaging Het
C4b T C 17: 34,961,391 (GRCm39) I189M probably benign Het
Calcr A G 6: 3,708,538 (GRCm39) I216T probably damaging Het
Cdk5rap2 T A 4: 70,184,970 (GRCm39) D1160V probably damaging Het
Cep128 A T 12: 91,315,625 (GRCm39) I87K probably damaging Het
Cep170b C G 12: 112,707,275 (GRCm39) H1256Q probably benign Het
Chd2 A T 7: 73,134,232 (GRCm39) V705E probably damaging Het
Clec12b T A 6: 129,356,923 (GRCm39) I172L probably benign Het
Col5a2 T A 1: 45,429,202 (GRCm39) D972V probably damaging Het
Csrp1 A T 1: 135,678,797 (GRCm39) N174I probably damaging Het
Dnah7a T A 1: 53,444,866 (GRCm39) H3946L probably benign Het
Dnajc21 A T 15: 10,462,001 (GRCm39) D133E probably benign Het
Dvl3 T A 16: 20,345,026 (GRCm39) I353N probably damaging Het
Elavl3 A T 9: 21,930,029 (GRCm39) S292T probably benign Het
Ephb2 T C 4: 136,498,923 (GRCm39) N52S probably damaging Het
Gaa T A 11: 119,171,361 (GRCm39) M671K possibly damaging Het
Gabrg3 T C 7: 56,423,032 (GRCm39) D222G possibly damaging Het
Gk5 C T 9: 96,022,709 (GRCm39) Q182* probably null Het
Gm14403 A T 2: 177,199,054 (GRCm39) H50L possibly damaging Het
Gzma T C 13: 113,234,794 (GRCm39) T66A probably damaging Het
Hint2 T C 4: 43,656,445 (GRCm39) probably benign Het
Hnmt A T 2: 23,904,251 (GRCm39) W137R probably damaging Het
Hoga1 T C 19: 42,048,402 (GRCm39) V90A probably benign Het
Idua A T 5: 108,828,090 (GRCm39) probably benign Het
Kif1a A C 1: 92,983,489 (GRCm39) S669R probably damaging Het
Klhdc7b A T 15: 89,271,862 (GRCm39) M915L possibly damaging Het
Klhl41 A G 2: 69,500,815 (GRCm39) Y92C probably damaging Het
Klrc2 A T 6: 129,633,420 (GRCm39) C186S probably damaging Het
Lmo7 A G 14: 102,166,772 (GRCm39) probably benign Het
Lrriq1 T C 10: 103,051,301 (GRCm39) M484V probably benign Het
Lzts1 A G 8: 69,591,729 (GRCm39) S140P possibly damaging Het
Mgat5b T A 11: 116,864,226 (GRCm39) V464E probably damaging Het
Mms19 A T 19: 41,944,305 (GRCm39) D298E possibly damaging Het
Muc5ac T C 7: 141,347,452 (GRCm39) probably null Het
Mycbp2 T A 14: 103,524,770 (GRCm39) K597I probably damaging Het
Myo18a C A 11: 77,745,513 (GRCm39) D1619E probably benign Het
Nfx1 T C 4: 40,984,973 (GRCm39) W366R probably null Het
Nipbl C T 15: 8,388,391 (GRCm39) V410I probably benign Het
Or14j10 T A 17: 37,935,323 (GRCm39) I68F probably benign Het
Or4c101 T A 2: 88,389,849 (GRCm39) M1K probably null Het
Or4f60 A T 2: 111,902,013 (GRCm39) M305K probably benign Het
Or52h1 T C 7: 103,829,091 (GRCm39) I175V probably benign Het
Or5b95 A T 19: 12,658,336 (GRCm39) Y288F probably damaging Het
Or7g32 A T 9: 19,388,853 (GRCm39) M231K probably benign Het
Or8u10 T C 2: 85,915,503 (GRCm39) N206S probably damaging Het
Otog A T 7: 45,936,871 (GRCm39) T1527S probably damaging Het
P2ry12 A T 3: 59,125,516 (GRCm39) M53K possibly damaging Het
Pask A G 1: 93,265,065 (GRCm39) probably null Het
Pcca G A 14: 123,124,481 (GRCm39) C684Y probably damaging Het
Pcdhb10 A G 18: 37,546,219 (GRCm39) T432A possibly damaging Het
Peak1 T C 9: 56,166,039 (GRCm39) N630D probably damaging Het
Plbd2 A T 5: 120,631,231 (GRCm39) probably null Het
Plekhg5 T C 4: 152,188,797 (GRCm39) V200A probably benign Het
Pola2 A G 19: 6,011,198 (GRCm39) V42A probably benign Het
Ppfibp2 T A 7: 107,337,097 (GRCm39) W572R probably damaging Het
Ppp6r1 C T 7: 4,636,771 (GRCm39) E679K probably benign Het
Pramel11 A T 4: 143,622,337 (GRCm39) H339Q probably damaging Het
Prdx3 G A 19: 60,859,963 (GRCm39) A70V probably damaging Het
Prkd2 T C 7: 16,577,717 (GRCm39) F57L probably benign Het
Prodh2 A G 7: 30,206,171 (GRCm39) T324A possibly damaging Het
Ptdss1 T C 13: 67,120,604 (GRCm39) F267L probably damaging Het
Rai14 T A 15: 10,593,137 (GRCm39) H169L probably benign Het
Rere A G 4: 150,701,700 (GRCm39) H1360R probably damaging Het
Rfc3 C T 5: 151,573,444 (GRCm39) V40I probably benign Het
Rims1 T A 1: 22,577,590 (GRCm39) T219S probably damaging Het
Rnf169 T C 7: 99,576,338 (GRCm39) R289G possibly damaging Het
Senp7 T C 16: 56,004,512 (GRCm39) silent Het
Sfmbt2 A T 2: 10,573,184 (GRCm39) I571F probably damaging Het
Slc11a2 C A 15: 100,301,068 (GRCm39) K328N probably benign Het
Slc25a10 A G 11: 120,387,202 (GRCm39) probably benign Het
Slc38a8 T C 8: 120,207,488 (GRCm39) *433W probably null Het
Slco1a5 A C 6: 142,183,320 (GRCm39) probably null Het
Smc6 T A 12: 11,339,995 (GRCm39) N434K probably benign Het
Syndig1 A T 2: 149,741,428 (GRCm39) I5F possibly damaging Het
Syt5 T C 7: 4,546,018 (GRCm39) Q124R probably benign Het
Taok3 A C 5: 117,344,785 (GRCm39) M171L probably benign Het
Tbrg1 T C 9: 37,560,709 (GRCm39) D389G probably benign Het
Tcaf2 G A 6: 42,619,707 (GRCm39) R107C possibly damaging Het
Tex14 C A 11: 87,426,452 (GRCm39) H1159Q probably damaging Het
Tmprss11d T A 5: 86,474,388 (GRCm39) M190L probably benign Het
Ttn T A 2: 76,768,867 (GRCm39) T2856S probably damaging Het
Ubr4 T A 4: 139,171,998 (GRCm39) M2997K probably damaging Het
Unc5c C T 3: 141,383,886 (GRCm39) A88V probably damaging Het
Use1 T C 8: 71,820,398 (GRCm39) probably benign Het
Vmn1r43 T C 6: 89,847,354 (GRCm39) N44S probably damaging Het
Vmn1r89 T A 7: 12,954,146 (GRCm39) V294D possibly damaging Het
Vmn2r11 A T 5: 109,194,869 (GRCm39) V819E probably damaging Het
Vmn2r120 T A 17: 57,831,977 (GRCm39) M271L probably benign Het
Vmn2r52 T C 7: 9,905,059 (GRCm39) Y260C probably damaging Het
Vmn2r67 T A 7: 84,799,151 (GRCm39) R519* probably null Het
Vmn2r69 T A 7: 85,056,404 (GRCm39) D578V probably damaging Het
Vmn2r85 T C 10: 130,262,343 (GRCm39) Y132C probably damaging Het
Wdr74 T A 19: 8,715,240 (GRCm39) V133E probably damaging Het
Zfp318 T A 17: 46,720,170 (GRCm39) probably benign Het
Zfp810 A T 9: 22,194,467 (GRCm39) S74T probably benign Het
Other mutations in Cobl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00338:Cobl APN 11 12,325,813 (GRCm39) missense possibly damaging 0.89
IGL00698:Cobl APN 11 12,203,722 (GRCm39) missense probably benign 0.41
IGL00772:Cobl APN 11 12,216,985 (GRCm39) missense probably benign 0.02
IGL00922:Cobl APN 11 12,204,866 (GRCm39) missense probably damaging 1.00
IGL00985:Cobl APN 11 12,204,843 (GRCm39) missense probably damaging 1.00
IGL01641:Cobl APN 11 12,259,641 (GRCm39) nonsense probably null
IGL01722:Cobl APN 11 12,203,987 (GRCm39) missense probably benign 0.00
IGL01734:Cobl APN 11 12,204,980 (GRCm39) splice site probably benign
IGL01924:Cobl APN 11 12,204,596 (GRCm39) missense probably benign 0.30
IGL02105:Cobl APN 11 12,199,651 (GRCm39) missense probably damaging 1.00
IGL02326:Cobl APN 11 12,336,712 (GRCm39) missense possibly damaging 0.69
IGL02342:Cobl APN 11 12,203,672 (GRCm39) missense possibly damaging 0.64
IGL02426:Cobl APN 11 12,204,351 (GRCm39) nonsense probably null
IGL02754:Cobl APN 11 12,204,370 (GRCm39) missense probably damaging 1.00
IGL02754:Cobl APN 11 12,204,371 (GRCm39) missense probably damaging 1.00
IGL02811:Cobl APN 11 12,203,285 (GRCm39) missense possibly damaging 0.56
IGL02859:Cobl APN 11 12,319,602 (GRCm39) missense probably damaging 1.00
IGL02999:Cobl APN 11 12,293,869 (GRCm39) missense possibly damaging 0.71
IGL03030:Cobl APN 11 12,204,241 (GRCm39) missense possibly damaging 0.80
IGL03191:Cobl APN 11 12,203,364 (GRCm39) missense probably benign 0.00
PIT4418001:Cobl UTSW 11 12,206,240 (GRCm39) missense possibly damaging 0.79
PIT4480001:Cobl UTSW 11 12,203,592 (GRCm39) missense probably benign
PIT4495001:Cobl UTSW 11 12,204,596 (GRCm39) missense probably benign 0.00
R0031:Cobl UTSW 11 12,204,945 (GRCm39) missense probably benign 0.36
R0241:Cobl UTSW 11 12,204,524 (GRCm39) missense probably benign 0.25
R0241:Cobl UTSW 11 12,204,524 (GRCm39) missense probably benign 0.25
R0322:Cobl UTSW 11 12,217,072 (GRCm39) missense probably damaging 1.00
R0597:Cobl UTSW 11 12,204,699 (GRCm39) missense probably benign 0.24
R0733:Cobl UTSW 11 12,315,167 (GRCm39) missense probably benign 0.31
R0734:Cobl UTSW 11 12,325,971 (GRCm39) missense probably damaging 1.00
R0784:Cobl UTSW 11 12,216,843 (GRCm39) splice site probably benign
R0884:Cobl UTSW 11 12,325,908 (GRCm39) missense possibly damaging 0.89
R1065:Cobl UTSW 11 12,204,327 (GRCm39) missense possibly damaging 0.67
R1331:Cobl UTSW 11 12,325,853 (GRCm39) missense probably damaging 0.96
R1892:Cobl UTSW 11 12,203,258 (GRCm39) missense probably damaging 0.99
R2847:Cobl UTSW 11 12,328,342 (GRCm39) missense probably damaging 1.00
R2848:Cobl UTSW 11 12,328,342 (GRCm39) missense probably damaging 1.00
R3407:Cobl UTSW 11 12,325,830 (GRCm39) missense probably damaging 1.00
R4627:Cobl UTSW 11 12,201,093 (GRCm39) missense probably damaging 1.00
R4662:Cobl UTSW 11 12,203,672 (GRCm39) missense probably benign 0.08
R4677:Cobl UTSW 11 12,336,665 (GRCm39) missense possibly damaging 0.93
R4844:Cobl UTSW 11 12,204,740 (GRCm39) missense probably benign 0.10
R4942:Cobl UTSW 11 12,204,185 (GRCm39) missense probably damaging 0.99
R5158:Cobl UTSW 11 12,206,198 (GRCm39) missense possibly damaging 0.84
R5195:Cobl UTSW 11 12,203,565 (GRCm39) missense probably benign 0.02
R5255:Cobl UTSW 11 12,325,825 (GRCm39) missense probably damaging 1.00
R5588:Cobl UTSW 11 12,293,886 (GRCm39) nonsense probably null
R5637:Cobl UTSW 11 12,246,531 (GRCm39) intron probably benign
R5749:Cobl UTSW 11 12,216,965 (GRCm39) missense possibly damaging 0.86
R5953:Cobl UTSW 11 12,206,220 (GRCm39) missense probably benign 0.00
R6000:Cobl UTSW 11 12,319,684 (GRCm39) missense probably benign 0.08
R6373:Cobl UTSW 11 12,203,118 (GRCm39) missense probably damaging 1.00
R7034:Cobl UTSW 11 12,204,177 (GRCm39) missense probably damaging 1.00
R7071:Cobl UTSW 11 12,204,795 (GRCm39) missense probably benign 0.00
R7077:Cobl UTSW 11 12,203,441 (GRCm39) missense probably benign 0.04
R7078:Cobl UTSW 11 12,328,271 (GRCm39) missense probably damaging 1.00
R7099:Cobl UTSW 11 12,246,540 (GRCm39) missense
R7153:Cobl UTSW 11 12,204,128 (GRCm39) missense probably damaging 1.00
R7448:Cobl UTSW 11 12,206,225 (GRCm39) missense possibly damaging 0.46
R7519:Cobl UTSW 11 12,203,124 (GRCm39) missense probably damaging 1.00
R7767:Cobl UTSW 11 12,362,117 (GRCm39) start gained probably benign
R7772:Cobl UTSW 11 12,204,488 (GRCm39) missense probably benign 0.29
R7841:Cobl UTSW 11 12,203,324 (GRCm39) missense probably damaging 1.00
R7845:Cobl UTSW 11 12,315,139 (GRCm39) missense probably benign 0.35
R8026:Cobl UTSW 11 12,203,459 (GRCm39) missense probably benign 0.01
R8118:Cobl UTSW 11 12,204,834 (GRCm39) missense probably benign 0.03
R8192:Cobl UTSW 11 12,199,745 (GRCm39) missense probably benign 0.07
R8320:Cobl UTSW 11 12,217,001 (GRCm39) missense probably damaging 1.00
R8338:Cobl UTSW 11 12,203,696 (GRCm39) missense probably benign 0.41
R9319:Cobl UTSW 11 12,203,648 (GRCm39) missense probably benign 0.00
R9497:Cobl UTSW 11 12,203,501 (GRCm39) missense probably benign 0.00
R9501:Cobl UTSW 11 12,328,235 (GRCm39) missense possibly damaging 0.94
Z1176:Cobl UTSW 11 12,325,827 (GRCm39) missense probably damaging 1.00
Z1176:Cobl UTSW 11 12,319,645 (GRCm39) missense probably damaging 1.00
Z1176:Cobl UTSW 11 12,203,433 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GCTCAAGTCTAACGGCAGTAGG -3'
(R):5'- GACGTCAGGTGCCACAAAAG -3'

Sequencing Primer
(F):5'- TCTAACGGCAGTAGGAACCACTG -3'
(R):5'- GGTGCCACAAAAGCCTCC -3'
Posted On 2016-11-08