Incidental Mutation 'IGL03030:Cobl'
ID 408412
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cobl
Ensembl Gene ENSMUSG00000020173
Gene Name cordon-bleu WH2 repeat
Synonyms C530045F18Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03030
Quality Score
Status
Chromosome 11
Chromosomal Location 12186676-12415022 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 12204241 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 813 (N813K)
Ref Sequence ENSEMBL: ENSMUSP00000133470 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046755] [ENSMUST00000109650] [ENSMUST00000109651] [ENSMUST00000172919] [ENSMUST00000172956] [ENSMUST00000174874]
AlphaFold Q5NBX1
Predicted Effect possibly damaging
Transcript: ENSMUST00000046755
AA Change: N820K

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000045693
Gene: ENSMUSG00000020173
AA Change: N820K

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 possibly damaging
Transcript: ENSMUST00000109650
AA Change: N738K

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000105277
Gene: ENSMUSG00000020173
AA Change: N738K

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 possibly damaging
Transcript: ENSMUST00000109651
AA Change: N795K

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000105278
Gene: ENSMUSG00000020173
AA Change: N795K

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 possibly damaging
Transcript: ENSMUST00000174874
AA Change: N813K

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000133470
Gene: ENSMUSG00000020173
AA Change: N813K

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
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik A G 7: 43,145,057 (GRCm39) V367A possibly damaging Het
Abcb5 A T 12: 118,904,104 (GRCm39) S200R possibly damaging Het
Adam29 T C 8: 56,326,100 (GRCm39) D118G probably damaging Het
Adh4 A G 3: 138,134,906 (GRCm39) D360G probably benign Het
Ankle2 A G 5: 110,399,476 (GRCm39) Q611R possibly damaging Het
Ankra2 C T 13: 98,409,881 (GRCm39) probably benign Het
Ap1g2 T A 14: 55,343,504 (GRCm39) I28F probably damaging Het
Baz2a C T 10: 127,961,015 (GRCm39) T1608I possibly damaging Het
Cacnb4 T C 2: 52,364,894 (GRCm39) D123G probably damaging Het
Cage1 G A 13: 38,212,123 (GRCm39) T51M probably benign Het
Ccdc63 A G 5: 122,260,876 (GRCm39) V216A probably benign Het
Ccnd2 A G 6: 127,125,841 (GRCm39) V65A probably damaging Het
Cfap20dc A G 14: 8,511,113 (GRCm38) S434P probably damaging Het
Chd3 T A 11: 69,245,230 (GRCm39) T1163S possibly damaging Het
Cmbl A G 15: 31,589,823 (GRCm39) probably benign Het
Cog5 G A 12: 31,840,921 (GRCm39) V249M probably damaging Het
Cps1 A G 1: 67,182,080 (GRCm39) N98S probably damaging Het
Cracd A G 5: 77,005,463 (GRCm39) D608G unknown Het
D630045J12Rik A T 6: 38,126,648 (GRCm39) I1454N probably damaging Het
Elmo2 A G 2: 165,136,237 (GRCm39) V603A possibly damaging Het
F12 A G 13: 55,569,332 (GRCm39) probably benign Het
Ficd G A 5: 113,874,990 (GRCm39) V20I probably benign Het
Gatad2b G T 3: 90,249,244 (GRCm39) G94V probably benign Het
Gm4845 G A 1: 141,184,403 (GRCm39) noncoding transcript Het
Hrnr G A 3: 93,227,908 (GRCm39) V9I possibly damaging Het
Kifc3 A G 8: 95,829,040 (GRCm39) S584P probably damaging Het
Klk1b24 C A 7: 43,840,790 (GRCm39) Q73K probably benign Het
Lrp10 C A 14: 54,706,619 (GRCm39) N518K possibly damaging Het
Lsr A G 7: 30,658,706 (GRCm39) V247A possibly damaging Het
Mfsd6 A T 1: 52,748,862 (GRCm39) M1K probably null Het
Mprip T A 11: 59,631,941 (GRCm39) probably null Het
Myo3b G T 2: 70,257,160 (GRCm39) probably benign Het
Oprd1 A G 4: 131,844,696 (GRCm39) F104S possibly damaging Het
Or1l4 T C 2: 37,091,883 (GRCm39) V210A probably benign Het
Or2g1 T A 17: 38,107,162 (GRCm39) Y276N probably damaging Het
Or4b1d A T 2: 89,969,006 (GRCm39) I159N possibly damaging Het
Or5ar1 T C 2: 85,671,416 (GRCm39) T240A probably damaging Het
Or5b109 C T 19: 13,212,418 (GRCm39) S268L probably damaging Het
Palb2 A G 7: 121,712,479 (GRCm39) V591A probably damaging Het
Pcdhb18 A T 18: 37,623,786 (GRCm39) D372V probably damaging Het
Phc3 A G 3: 30,991,002 (GRCm39) V405A probably damaging Het
Phf20l1 A T 15: 66,513,796 (GRCm39) probably benign Het
Pik3ip1 A G 11: 3,283,259 (GRCm39) K57E possibly damaging Het
Pkhd1l1 G A 15: 44,455,372 (GRCm39) M4044I probably benign Het
Pkhd1l1 T C 15: 44,460,298 (GRCm39) V4169A probably benign Het
Pklr A T 3: 89,049,963 (GRCm39) I313F probably damaging Het
Plxna4 T A 6: 32,179,160 (GRCm39) T952S probably benign Het
Pop4 A T 7: 37,962,730 (GRCm39) I178N probably damaging Het
Prorp A G 12: 55,351,429 (GRCm39) D246G probably damaging Het
Prss40 A C 1: 34,597,182 (GRCm39) V122G probably damaging Het
Rapgef2 C A 3: 78,981,614 (GRCm39) probably null Het
Rbm19 A G 5: 120,269,311 (GRCm39) D538G probably damaging Het
Rnf44 G A 13: 54,829,803 (GRCm39) R312* probably null Het
Rock1 T C 18: 10,070,215 (GRCm39) probably benign Het
Rrp1b A G 17: 32,275,875 (GRCm39) E474G probably damaging Het
Ryr2 T A 13: 11,699,365 (GRCm39) I2959F probably damaging Het
Sidt2 A G 9: 45,850,803 (GRCm39) S801P probably damaging Het
Skint6 T C 4: 112,870,153 (GRCm39) I602V probably benign Het
Slc6a19 C A 13: 73,848,590 (GRCm39) V55L probably damaging Het
Smarca4 C T 9: 21,547,132 (GRCm39) T219I probably benign Het
Trappc11 C A 8: 47,966,964 (GRCm39) V440F probably damaging Het
Vmn1r236 G A 17: 21,507,108 (GRCm39) W75* probably null Het
Vmn2r52 A G 7: 9,892,799 (GRCm39) F780S probably benign Het
Vmn2r82 G T 10: 79,217,149 (GRCm39) A494S possibly damaging Het
Vwa3b A T 1: 37,084,049 (GRCm39) K74M probably damaging Het
Wrn T A 8: 33,738,989 (GRCm39) I1037F possibly damaging Het
Zfp13 T C 17: 23,799,819 (GRCm39) T82A probably benign Het
Zfp82 T C 7: 29,756,890 (GRCm39) E64G 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
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
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
Posted On 2016-08-02