Incidental Mutation 'R7077:Cobl'
ID 549286
Institutional Source Beutler Lab
Gene Symbol Cobl
Ensembl Gene ENSMUSG00000020173
Gene Name cordon-bleu WH2 repeat
Synonyms C530045F18Rik
MMRRC Submission 045172-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7077 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 12186676-12415022 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 12203441 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 1087 (N1087S)
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 benign
Transcript: ENSMUST00000046755
AA Change: N1087S

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000045693
Gene: ENSMUSG00000020173
AA Change: N1087S

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
AA Change: N1005S

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000105277
Gene: ENSMUSG00000020173
AA Change: N1005S

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
AA Change: N1062S

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000105278
Gene: ENSMUSG00000020173
AA Change: N1062S

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: N1080S

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000133470
Gene: ENSMUSG00000020173
AA Change: N1080S

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: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (54/55)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam21 C T 12: 81,605,893 (GRCm39) C623Y probably damaging Het
Ago3 T C 4: 126,265,325 (GRCm39) K322R probably null Het
Ankrd17 T C 5: 90,433,723 (GRCm39) H682R possibly damaging Het
Aoah A G 13: 21,094,276 (GRCm39) D187G probably damaging Het
Arhgap17 T C 7: 122,879,231 (GRCm39) D840G unknown Het
AW551984 C T 9: 39,502,723 (GRCm39) V650I probably benign Het
Bok T A 1: 93,616,911 (GRCm39) Y86N probably damaging Het
Ccdc146 T A 5: 21,510,272 (GRCm39) N580I possibly damaging Het
Ccng2 T C 5: 93,417,199 (GRCm39) S72P possibly damaging Het
Cfap74 T G 4: 155,540,134 (GRCm39) I977S unknown Het
Cyp21a1 C A 17: 35,021,333 (GRCm39) R346L probably damaging Het
Eif4a1 A C 11: 69,561,490 (GRCm39) F52L probably damaging Het
Eif4ebp2 A C 10: 61,269,580 (GRCm39) I120S probably damaging Het
Enpp2 A C 15: 54,764,787 (GRCm39) D146E probably benign Het
Exosc9 T C 3: 36,607,205 (GRCm39) Y30H probably damaging Het
Fam117a G A 11: 95,268,498 (GRCm39) G300S probably benign Het
Focad C A 4: 88,328,914 (GRCm39) A1709E unknown Het
Fsd1 G A 17: 56,300,876 (GRCm39) R245H probably damaging Het
Fsip2 T C 2: 82,813,496 (GRCm39) F3272L probably benign Het
Gcnt2 G A 13: 41,013,896 (GRCm39) M22I probably benign Het
Gjd4 T C 18: 9,280,928 (GRCm39) E50G probably damaging Het
Gm10375 G T 14: 43,840,427 (GRCm39) T162K probably benign Het
Gm10837 C G 14: 122,728,142 (GRCm39) A6G unknown Het
Gm4924 T C 10: 82,215,057 (GRCm39) F952L unknown Het
Heatr1 T C 13: 12,433,045 (GRCm39) F1132L possibly damaging Het
Hnrnpu A G 1: 178,159,756 (GRCm39) Y442H unknown Het
Hp1bp3 C A 4: 137,966,929 (GRCm39) T408N probably damaging Het
Htra3 A G 5: 35,825,660 (GRCm39) V198A probably damaging Het
Katnal1 T C 5: 148,828,547 (GRCm39) T300A probably benign Het
Lipo5 G T 19: 33,445,170 (GRCm39) P133Q Het
Lrp1b A T 2: 41,660,858 (GRCm39) H197Q Het
Mdc1 C A 17: 36,156,839 (GRCm39) A82D probably damaging Het
Mstn A T 1: 53,103,408 (GRCm39) D248V probably benign Het
Myo1d C T 11: 80,565,460 (GRCm39) E426K probably damaging Het
Ola1 G A 2: 72,972,308 (GRCm39) T221I probably damaging Het
Or52z1 A G 7: 103,436,593 (GRCm39) I297T probably damaging Het
Or5t7 T C 2: 86,507,236 (GRCm39) Y147C possibly damaging Het
Or7e166 T A 9: 19,624,428 (GRCm39) S102T probably benign Het
Or8c20 T A 9: 38,261,266 (GRCm39) Y290N probably damaging Het
Phldb1 T C 9: 44,623,201 (GRCm39) T618A possibly damaging Het
Pkd1 T G 17: 24,810,093 (GRCm39) W3565G probably damaging Het
Prl3a1 A T 13: 27,460,086 (GRCm39) N190I probably benign Het
Ptk2 G A 15: 73,093,658 (GRCm39) P854S possibly damaging Het
Ptpn11 C T 5: 121,281,633 (GRCm39) R484Q probably benign Het
Rapgef4 T C 2: 72,071,820 (GRCm39) M900T probably damaging Het
Slc1a2 A T 2: 102,607,855 (GRCm39) D501V probably benign Het
Smarcd3 G T 5: 24,799,960 (GRCm39) A270D probably damaging Het
Srgap2 A G 1: 131,272,187 (GRCm39) M33T Het
Tle1 G C 4: 72,076,612 (GRCm39) P139A probably benign Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tsbp1 C A 17: 34,659,856 (GRCm39) T93N possibly damaging Het
Zfp658 T A 7: 43,223,413 (GRCm39) S563T probably benign Het
Zswim9 G A 7: 12,993,679 (GRCm39) R826C probably damaging 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
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'- GACGGTAGAGTATCATCTGCG -3'
(R):5'- AGGTCAACAGCACATATGGG -3'

Sequencing Primer
(F):5'- GCGTCTTGACCATCTGTAGATAACG -3'
(R):5'- TGGGAAGTCATCGACTCAAGACTATC -3'
Posted On 2019-05-15