Incidental Mutation 'R7841:Cobl'
ID 606318
Institutional Source Beutler Lab
Gene Symbol Cobl
Ensembl Gene ENSMUSG00000020173
Gene Name cordon-bleu WH2 repeat
Synonyms C530045F18Rik
MMRRC Submission 045895-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7841 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 12186676-12415022 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 12203324 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Histidine at position 1126 (P1126H)
Ref Sequence ENSEMBL: ENSMUSP00000045693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046755] [ENSMUST00000109650] [ENSMUST00000109651] [ENSMUST00000172919] [ENSMUST00000172956] [ENSMUST00000174874]
AlphaFold Q5NBX1
PDB Structure Actin complex with Gelsolin Segment 1 fused to Cobl segment [X-RAY DIFFRACTION]
Crystal Structure of an Actin Dimer in Complex with the Actin Nucleator Cordon-Bleu [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000046755
AA Change: P1126H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045693
Gene: ENSMUSG00000020173
AA Change: P1126H

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 damaging
Transcript: ENSMUST00000109650
AA Change: P1044H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105277
Gene: ENSMUSG00000020173
AA Change: P1044H

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 damaging
Transcript: ENSMUST00000109651
AA Change: P1101H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000105278
Gene: ENSMUSG00000020173
AA Change: P1101H

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 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: 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
Predicted Effect probably benign
Transcript: ENSMUST00000174874
AA Change: P1119H

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000133470
Gene: ENSMUSG00000020173
AA Change: P1119H

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016H13Rik T C 5: 103,802,806 (GRCm39) K16R possibly damaging Het
2810408A11Rik A G 11: 69,790,112 (GRCm39) F210L probably benign Het
Adam6a G T 12: 113,509,078 (GRCm39) D484Y probably damaging Het
B9d1 A G 11: 61,397,192 (GRCm39) Y29C possibly damaging Het
Cald1 T C 6: 34,722,696 (GRCm39) F115L unknown Het
Ccnd1 A T 7: 144,491,718 (GRCm39) M107K probably damaging Het
Ccnh G A 13: 85,337,712 (GRCm39) A20T probably benign Het
Cep162 T C 9: 87,126,369 (GRCm39) D181G probably benign Het
Cep44 AACGC A 8: 56,994,018 (GRCm39) probably null Het
Ces2b A G 8: 105,561,692 (GRCm39) D262G probably benign Het
Cic A G 7: 24,985,192 (GRCm39) Y1146C probably damaging Het
Cmtm1 G A 8: 105,036,108 (GRCm39) R174C possibly damaging Het
Col14a1 T A 15: 55,245,876 (GRCm39) M460K unknown Het
Cst11 G A 2: 148,613,227 (GRCm39) R33W possibly damaging Het
Cyp19a1 A T 9: 54,079,089 (GRCm39) V340E probably benign Het
Dbt A T 3: 116,339,746 (GRCm39) Q378L possibly damaging Het
Dchs1 A G 7: 105,412,180 (GRCm39) V1312A probably benign Het
Eif3l T C 15: 78,973,779 (GRCm39) M398T probably benign Het
Faxc A G 4: 21,958,584 (GRCm39) H247R probably benign Het
Fbxl17 T C 17: 63,794,820 (GRCm39) R421G probably damaging Het
Fbxo3 T A 2: 103,890,337 (GRCm39) D450E unknown Het
Fmn1 T C 2: 113,359,810 (GRCm39) probably null Het
Foxs1 T A 2: 152,774,907 (GRCm39) M49L possibly damaging Het
Gucy1a2 A G 9: 3,634,766 (GRCm39) E270G probably benign Het
Helz2 T C 2: 180,874,695 (GRCm39) D1933G probably damaging Het
Hspa4 G A 11: 53,157,887 (GRCm39) A572V possibly damaging Het
Ica1 T A 6: 8,737,072 (GRCm39) D174V probably damaging Het
Igfbp6 A T 15: 102,056,352 (GRCm39) Q137L possibly damaging Het
Il1r2 T C 1: 40,144,628 (GRCm39) L105P probably damaging Het
Iqca1 A T 1: 89,987,337 (GRCm39) C72S Het
Itgbl1 T C 14: 124,209,645 (GRCm39) probably null Het
Ivl T A 3: 92,479,699 (GRCm39) Q122L possibly damaging Het
Kdsr T C 1: 106,671,415 (GRCm39) E198G probably damaging Het
Lama2 T C 10: 27,031,529 (GRCm39) T1510A probably benign Het
Lrrc37a A T 11: 103,391,931 (GRCm39) Y1165N probably benign Het
Mycbp2 A G 14: 103,384,267 (GRCm39) probably null Het
Myh3 A G 11: 66,989,518 (GRCm39) E1546G probably damaging Het
Nacad A T 11: 6,551,031 (GRCm39) V720E probably benign Het
Napa A G 7: 15,849,559 (GRCm39) D257G possibly damaging Het
Nif3l1 T C 1: 58,487,042 (GRCm39) V76A probably damaging Het
Nkapd1 A C 9: 50,521,716 (GRCm39) S68R probably damaging Het
Nphp4 G A 4: 152,581,140 (GRCm39) S108N probably benign Het
Npr1 A T 3: 90,362,175 (GRCm39) L990H probably damaging Het
Nup205 A G 6: 35,224,372 (GRCm39) R322G unknown Het
Or4a79 C A 2: 89,552,309 (GRCm39) A49S probably benign Het
Or4q3 G T 14: 50,583,285 (GRCm39) Q174K probably benign Het
Or52n2c T A 7: 104,574,066 (GRCm39) I302F possibly damaging Het
Or8c14-ps1 T G 9: 38,101,777 (GRCm39) M252R unknown Het
Or8c19-ps1 T A 9: 38,220,817 (GRCm39) V242E unknown Het
Ovch2 G T 7: 107,393,298 (GRCm39) Q192K probably benign Het
Pcca T A 14: 122,800,384 (GRCm39) D91E probably benign Het
Pole2 T C 12: 69,251,032 (GRCm39) T444A probably damaging Het
Ppip5k1 T C 2: 121,173,276 (GRCm39) K466E probably benign Het
Prr35 A T 17: 26,167,458 (GRCm39) Y26* probably null Het
Ptgfrn A T 3: 100,968,126 (GRCm39) I489N probably damaging Het
Rassf1 A G 9: 107,438,744 (GRCm39) *341W probably null Het
Ret G A 6: 118,132,321 (GRCm39) P1040S probably damaging Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rsf1 A AAGGCGACGG 7: 97,229,111 (GRCm39) probably null Het
Slc6a17 A T 3: 107,384,214 (GRCm39) Y377N possibly damaging Het
Snrnp200 C A 2: 127,078,754 (GRCm39) D1806E probably benign Het
Synj2 G A 17: 6,094,419 (GRCm39) R1215H unknown Het
Tbc1d5 TTGCTGCTGGTGTTGCTGCTGCTGCTGCTG TTGCTGCTG 17: 51,106,950 (GRCm39) probably benign Het
Top2a A T 11: 98,913,176 (GRCm39) D85E probably damaging Het
Tram1l1 A T 3: 124,115,353 (GRCm39) Q171L probably damaging Het
Tram1l1 G T 3: 124,115,354 (GRCm39) Q171H probably damaging Het
Tspyl4 A G 10: 34,174,267 (GRCm39) H253R probably damaging Het
Ttn T C 2: 76,662,490 (GRCm39) I23V Het
Ubr5 T C 15: 37,981,150 (GRCm39) N2376D Het
Ugt2b37 T C 5: 87,398,489 (GRCm39) N316D probably benign Het
Usp31 A C 7: 121,247,679 (GRCm39) S1255A probably benign Het
Usp31 A T 7: 121,276,535 (GRCm39) V334E probably damaging Het
Vmn2r108 A G 17: 20,690,305 (GRCm39) probably null Het
Vmn2r87 T A 10: 130,333,095 (GRCm39) T52S probably benign Het
Vrk2 C A 11: 26,421,457 (GRCm39) L500F probably damaging Het
Zan T A 5: 137,435,064 (GRCm39) I2110F unknown 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
R5643:Cobl UTSW 11 12,256,948 (GRCm39) splice site 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
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'- GCACTGTGCAGGGATACATC -3'
(R):5'- TCCCAGGCAGATCTTCCCATAG -3'

Sequencing Primer
(F):5'- CACTGTGCAGGGATACATCTTTTG -3'
(R):5'- GGACAGAGCTGTGGTTTCAATG -3'
Posted On 2019-12-20