Incidental Mutation 'R0597:Cobl'
ID 55128
Institutional Source Beutler Lab
Gene Symbol Cobl
Ensembl Gene ENSMUSG00000020173
Gene Name cordon-bleu WH2 repeat
Synonyms C530045F18Rik
MMRRC Submission 038786-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0597 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 12186676-12415022 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 12204699 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 586 (T586A)
Ref Sequence ENSEMBL: ENSMUSP00000105277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046755] [ENSMUST00000109650] [ENSMUST00000109651] [ENSMUST00000172919] [ENSMUST00000172956] [ENSMUST00000174874]
AlphaFold Q5NBX1
Predicted Effect probably benign
Transcript: ENSMUST00000046755
AA Change: T668A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000045693
Gene: ENSMUSG00000020173
AA Change: T668A

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: T586A

PolyPhen 2 Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000105277
Gene: ENSMUSG00000020173
AA Change: T586A

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: T643A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105278
Gene: ENSMUSG00000020173
AA Change: T643A

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: T661A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133470
Gene: ENSMUSG00000020173
AA Change: T661A

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 99.0%
  • 10x: 97.4%
  • 20x: 94.1%
Validation Efficiency 97% (71/73)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy10 T C 1: 165,352,631 (GRCm39) probably null Het
Anxa11 T C 14: 25,874,652 (GRCm39) I221T probably damaging Het
Arhgap33 C G 7: 30,225,871 (GRCm39) R565P probably damaging Het
Bmpr2 T C 1: 59,880,584 (GRCm39) probably benign Het
Btn2a2 T A 13: 23,670,580 (GRCm39) H51L probably benign Het
Casz1 T C 4: 149,028,851 (GRCm39) S1099P probably benign Het
Cnot4 A G 6: 35,028,438 (GRCm39) S393P possibly damaging Het
Cntnap5a T C 1: 116,112,191 (GRCm39) probably benign Het
Crocc T C 4: 140,747,224 (GRCm39) K1528R probably benign Het
Crocc A G 4: 140,744,382 (GRCm39) L1838P probably benign Het
Dact2 A G 17: 14,417,303 (GRCm39) V299A probably benign Het
Dapk1 C A 13: 60,909,198 (GRCm39) N1270K probably benign Het
Ddx41 T C 13: 55,680,819 (GRCm39) Y375C probably damaging Het
Dock5 T A 14: 68,022,383 (GRCm39) probably null Het
Dyrk4 T G 6: 126,863,612 (GRCm39) probably null Het
Eno1b T C 18: 48,180,806 (GRCm39) I328T probably benign Het
Fam210b A G 2: 172,187,773 (GRCm39) probably benign Het
Fbxl13 A G 5: 21,819,712 (GRCm39) I229T probably benign Het
Fbxo39 A G 11: 72,207,747 (GRCm39) D33G probably damaging Het
Fbxw11 A G 11: 32,670,496 (GRCm39) E120G probably damaging Het
Fbxw2 A T 2: 34,701,032 (GRCm39) L261Q probably damaging Het
Gm5800 A C 14: 51,953,461 (GRCm39) N51K probably benign Het
Gm6899 A G 11: 26,543,768 (GRCm39) probably benign Het
Gpx8 T C 13: 113,182,035 (GRCm39) T133A possibly damaging Het
Grin3a C T 4: 49,665,351 (GRCm39) V1095M probably damaging Het
Grip2 T C 6: 91,773,178 (GRCm39) probably benign Het
Hacd4 A G 4: 88,355,757 (GRCm39) F43L probably damaging Het
Hif1a T G 12: 73,989,049 (GRCm39) S645R probably benign Het
Hipk3 A G 2: 104,263,982 (GRCm39) S839P possibly damaging Het
Idi2l C A 13: 8,990,802 (GRCm39) probably benign Het
Il16 A T 7: 83,327,183 (GRCm39) probably benign Het
Il3ra T A 14: 14,351,166 (GRCm38) probably null Het
Il5ra A G 6: 106,721,296 (GRCm39) M1T probably null Het
Klra2 G A 6: 131,197,148 (GRCm39) R251C probably benign Het
Lamc2 C T 1: 153,009,367 (GRCm39) V813M probably benign Het
Lbr A G 1: 181,659,778 (GRCm39) V139A probably benign Het
Lrp5 T C 19: 3,650,777 (GRCm39) D1219G possibly damaging Het
Map3k6 C T 4: 132,972,863 (GRCm39) P341S possibly damaging Het
Mcts2 A G 2: 152,529,609 (GRCm39) E140G probably benign Het
Med1 T C 11: 98,060,264 (GRCm39) M222V probably benign Het
Mef2a G T 7: 66,884,896 (GRCm39) S406* probably null Het
Muc19 A T 15: 91,784,696 (GRCm39) noncoding transcript Het
Nr1h2 A G 7: 44,201,684 (GRCm39) probably benign Het
Or13j1 A T 4: 43,706,592 (GRCm39) probably null Het
Or2w6 C A 13: 21,843,316 (GRCm39) R59L probably damaging Het
Or56a42-ps1 A G 7: 104,777,425 (GRCm39) V73A possibly damaging Het
Or5ac23 A T 16: 59,149,123 (GRCm39) F250I probably damaging Het
P4hb G A 11: 120,459,070 (GRCm39) T141I possibly damaging Het
Polr3a A G 14: 24,534,202 (GRCm39) V101A probably benign Het
Pou4f2 A G 8: 79,161,869 (GRCm39) S245P probably benign Het
Pramel26 G T 4: 143,539,222 (GRCm39) N90K probably damaging Het
Rnpep A G 1: 135,200,157 (GRCm39) V266A probably damaging Het
Scly G A 1: 91,237,555 (GRCm39) G206R probably damaging Het
Sec14l3 A T 11: 4,024,814 (GRCm39) K254N probably damaging Het
Sgpp1 A T 12: 75,781,874 (GRCm39) I155N probably damaging Het
Slc22a14 A G 9: 119,001,190 (GRCm39) L468P probably damaging Het
Slc22a27 A G 19: 7,843,249 (GRCm39) F377L probably benign Het
Slc44a3 T C 3: 121,253,719 (GRCm39) I625V probably benign Het
Slc47a2 A T 11: 61,200,802 (GRCm39) I373N probably damaging Het
Slfn10-ps A T 11: 82,926,479 (GRCm39) noncoding transcript Het
Smarcd1 T A 15: 99,608,975 (GRCm39) I383N probably damaging Het
Sort1 A G 3: 108,246,226 (GRCm39) D401G probably damaging Het
Sprr2a3 G T 3: 92,195,897 (GRCm39) M1I probably null Het
Sycp2 A C 2: 177,998,373 (GRCm39) V1049G possibly damaging Het
Tecrl T A 5: 83,502,775 (GRCm39) K10* probably null Het
Tnpo3 A T 6: 29,578,564 (GRCm39) C303* probably null Het
Vmn2r23 A G 6: 123,706,680 (GRCm39) I503M probably benign Het
Zbtb8os T A 4: 129,240,670 (GRCm39) I164N probably damaging Het
Zfp292 T C 4: 34,807,399 (GRCm39) N1882D probably benign Het
Zfp91 T C 19: 12,747,459 (GRCm39) I555V possibly 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
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
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'- TGTGACTAGAACCATGCACTTTGCC -3'
(R):5'- TCGTACCCTGAACCGTCATGGATAG -3'

Sequencing Primer
(F):5'- AGAACCATGCACTTTGCCTTTATC -3'
(R):5'- CCATAATCCCTGATAGTGGCGTG -3'
Posted On 2013-07-11