Incidental Mutation 'R0733:Cobl'
ID 67120
Institutional Source Beutler Lab
Gene Symbol Cobl
Ensembl Gene ENSMUSG00000020173
Gene Name cordon-bleu WH2 repeat
Synonyms C530045F18Rik
MMRRC Submission 038914-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0733 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 12186676-12415022 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 12315167 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 259 (G259R)
Ref Sequence ENSEMBL: ENSMUSP00000133470 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046755] [ENSMUST00000109650] [ENSMUST00000109651] [ENSMUST00000172827] [ENSMUST00000174874] [ENSMUST00000172919] [ENSMUST00000172956]
AlphaFold Q5NBX1
Predicted Effect probably benign
Transcript: ENSMUST00000046755
AA Change: G266R

PolyPhen 2 Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000045693
Gene: ENSMUSG00000020173
AA Change: G266R

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 unknown
Transcript: ENSMUST00000136549
AA Change: G20R
SMART Domains Protein: ENSMUSP00000114779
Gene: ENSMUSG00000020173
AA Change: G20R

DomainStartEndE-ValueType
low complexity region 83 88 N/A INTRINSIC
low complexity region 115 131 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000146067
AA Change: G172R
SMART Domains Protein: ENSMUSP00000119008
Gene: ENSMUSG00000020173
AA Change: G172R

DomainStartEndE-ValueType
Pfam:Cobl 35 142 5e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172827
AA Change: G38R

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000133368
Gene: ENSMUSG00000020173
AA Change: G38R

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: ENSMUST00000174874
AA Change: G259R

PolyPhen 2 Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000133470
Gene: ENSMUSG00000020173
AA Change: G259R

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: ENSMUST00000172919
AA Change: G266R

PolyPhen 2 Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000133669
Gene: ENSMUSG00000020173
AA Change: G266R

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 95.9%
Validation Efficiency 98% (60/61)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl1 A G 2: 31,668,957 (GRCm39) Y88C probably damaging Het
Acbd3 A G 1: 180,579,783 (GRCm39) I476V possibly damaging Het
Apba2 T C 7: 64,399,912 (GRCm39) I689T probably damaging Het
AU018091 A G 7: 3,209,001 (GRCm39) Y362H probably damaging Het
Castor2 T C 5: 134,165,054 (GRCm39) F208L possibly damaging Het
Cdh26 T C 2: 178,128,724 (GRCm39) S759P probably damaging Het
Clcc1 A G 3: 108,582,056 (GRCm39) Q387R probably benign Het
Col4a1 C T 8: 11,268,934 (GRCm39) R968Q possibly damaging Het
Ddr2 A G 1: 169,832,381 (GRCm39) probably benign Het
Dera C A 6: 137,773,846 (GRCm39) N201K probably damaging Het
Dsg1a A C 18: 20,471,725 (GRCm39) E659A probably damaging Het
Dus2 G T 8: 106,772,702 (GRCm39) probably null Het
Ears2 T A 7: 121,647,352 (GRCm39) I311F possibly damaging Het
Eml4 T A 17: 83,761,893 (GRCm39) M417K possibly damaging Het
Exosc4 A T 15: 76,213,616 (GRCm39) M147L probably benign Het
Fam171a2 T A 11: 102,330,548 (GRCm39) Y278F possibly damaging Het
Fastk A C 5: 24,648,921 (GRCm39) H155Q probably null Het
Fem1b G T 9: 62,704,125 (GRCm39) N378K possibly damaging Het
Fut11 C A 14: 20,745,427 (GRCm39) Y119* probably null Het
Gm6797 T C X: 8,511,388 (GRCm39) noncoding transcript Het
Gstt4 T C 10: 75,653,148 (GRCm39) D138G probably benign Het
Hprt1 G A X: 52,091,027 (GRCm39) C66Y probably damaging Het
Inpp5d T A 1: 87,595,799 (GRCm39) probably benign Het
Ints6l T A X: 55,547,108 (GRCm39) S621T probably benign Het
Ints6l C G X: 55,550,172 (GRCm39) A699G probably benign Het
Kctd3 A G 1: 188,729,247 (GRCm39) probably benign Het
Kntc1 G T 5: 123,928,979 (GRCm39) V1252L probably null Het
Lama5 A T 2: 179,822,511 (GRCm39) M2854K possibly damaging Het
Lcn5 G T 2: 25,551,113 (GRCm39) L187F probably damaging Het
Lrp3 A T 7: 34,901,545 (GRCm39) L758M possibly damaging Het
Ltn1 T A 16: 87,209,395 (GRCm39) I740F probably benign Het
Mcm5 A G 8: 75,853,876 (GRCm39) K710R probably benign Het
Mllt10 A G 2: 18,208,577 (GRCm39) probably benign Het
Nbr1 T A 11: 101,467,197 (GRCm39) M864K probably benign Het
Nkiras2 T C 11: 100,515,758 (GRCm39) probably null Het
Nlrp4d T A 7: 10,116,449 (GRCm39) E144V probably benign Het
Nppc T C 1: 86,597,356 (GRCm39) probably benign Het
Ormdl2 T A 10: 128,655,868 (GRCm39) Q94L probably damaging Het
Paox G C 7: 139,707,440 (GRCm39) D88H probably damaging Het
Prl7a2 T C 13: 27,846,671 (GRCm39) E114G probably damaging Het
Prpsap2 A G 11: 61,631,826 (GRCm39) I177T possibly damaging Het
Prss54 T C 8: 96,286,368 (GRCm39) D235G possibly damaging Het
Rwdd3 T C 3: 120,965,256 (GRCm39) M24V probably benign Het
Serpinb6e T A 13: 34,025,201 (GRCm39) N30I probably benign Het
Sh3rf1 G A 8: 61,825,594 (GRCm39) A530T probably benign Het
Slc28a1 T C 7: 80,774,648 (GRCm39) I165T probably benign Het
Slco6d1 T A 1: 98,355,994 (GRCm39) L143* probably null Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Snx27 A G 3: 94,469,320 (GRCm39) L7P probably benign Het
Spata31e2 T A 1: 26,722,013 (GRCm39) T1056S possibly damaging Het
Spsb1 C T 4: 149,991,374 (GRCm39) V65I probably benign Het
St8sia2 C T 7: 73,610,588 (GRCm39) G232S probably benign Het
Sun1 A G 5: 139,216,918 (GRCm39) H255R possibly damaging Het
Tent2 T A 13: 93,291,547 (GRCm39) Q365L probably benign Het
Ube2k A G 5: 65,738,795 (GRCm39) I95V probably damaging Het
Ube2m C A 7: 12,769,679 (GRCm39) E126D probably damaging Het
Vmn2r27 A T 6: 124,169,147 (GRCm39) M661K probably benign Het
Wdr47 A T 3: 108,525,939 (GRCm39) D154V probably damaging Het
Zfp113 A G 5: 138,143,845 (GRCm39) V135A 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
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
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'- AGCGTGGACTAAAGCTAGTCTCCAG -3'
(R):5'- CTCTACCTGATTATGCCGCTGATGG -3'

Sequencing Primer
(F):5'- CCAGTTTGTTATCTGCAATGAGAAG -3'
(R):5'- ACAGCGTTCTAGTTCATAAGGTG -3'
Posted On 2013-09-03