Incidental Mutation 'R7078:Cobl'
ID 549361
Institutional Source Beutler Lab
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 # R7078 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 12186676-12415022 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 12328271 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 112 (T112P)
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: T112P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000045693
Gene: ENSMUSG00000020173
AA Change: T112P

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: T112P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105277
Gene: ENSMUSG00000020173
AA Change: T112P

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: T112P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105278
Gene: ENSMUSG00000020173
AA Change: T112P

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
SMART Domains Protein: ENSMUSP00000119008
Gene: ENSMUSG00000020173
AA Change: T3P

DomainStartEndE-ValueType
Pfam:Cobl 35 142 5e-43 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000172919
AA Change: T112P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000133669
Gene: ENSMUSG00000020173
AA Change: T112P

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 damaging
Transcript: ENSMUST00000172956
AA Change: T112P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134372
Gene: ENSMUSG00000020173
AA Change: T112P

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 damaging
Transcript: ENSMUST00000174874
AA Change: T105P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133470
Gene: ENSMUSG00000020173
AA Change: T105P

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: 99.6%
  • 20x: 98.8%
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca G A 11: 84,154,138 (GRCm39) R953Q possibly damaging Het
Aldh1a1 A T 19: 20,579,434 (GRCm39) H20L probably benign Het
Ankrd52 T A 10: 128,219,526 (GRCm39) C487S probably benign Het
Ap1s3 T C 1: 79,602,845 (GRCm39) E54G probably benign Het
Arglu1 A C 8: 8,717,361 (GRCm39) M236R probably benign Het
Baz1b T A 5: 135,246,293 (GRCm39) F581I probably benign Het
Bbox1 T G 2: 110,122,884 (GRCm39) D135A probably benign Het
Bcl2l14 T A 6: 134,400,786 (GRCm39) V69E probably damaging Het
Brinp3 C T 1: 146,390,627 (GRCm39) Q58* probably null Het
Ccnb1ip1 T A 14: 51,029,724 (GRCm39) K113* probably null Het
Cep128 T C 12: 91,200,878 (GRCm39) I830M probably damaging Het
Ces2f C T 8: 105,681,284 (GRCm39) T541I probably damaging Het
Chsy3 C A 18: 59,309,149 (GRCm39) P134Q possibly damaging Het
Cplane2 A T 4: 140,947,159 (GRCm39) Y180F probably benign Het
Dcc T A 18: 71,680,469 (GRCm39) K589I probably benign Het
Depdc1b T A 13: 108,523,505 (GRCm39) I460K possibly damaging Het
Dlst T C 12: 85,157,705 (GRCm39) F12S probably benign Het
Dnah1 G C 14: 31,019,067 (GRCm39) F1342L probably damaging Het
Dtnb A G 12: 3,798,480 (GRCm39) Q438R possibly damaging Het
Dusp4 C A 8: 35,275,065 (GRCm39) S61R probably damaging Het
E130308A19Rik A G 4: 59,737,688 (GRCm39) Y433C probably damaging Het
Ebf2 T C 14: 67,661,407 (GRCm39) S512P probably benign Het
Elapor2 A G 5: 9,460,709 (GRCm39) N210S probably benign Het
Eya1 C T 1: 14,301,636 (GRCm39) probably null Het
Fsd1 G A 17: 56,300,876 (GRCm39) R245H probably damaging Het
Fzr1 T A 10: 81,204,463 (GRCm39) D379V probably damaging Het
Gk2 T A 5: 97,604,195 (GRCm39) E214D probably benign Het
Gm10837 C G 14: 122,728,142 (GRCm39) A6G unknown Het
Gmnc A T 16: 26,779,272 (GRCm39) V251E probably benign Het
Golga3 A G 5: 110,340,953 (GRCm39) Q549R probably damaging Het
Gsdmd T G 15: 75,736,204 (GRCm39) V111G probably damaging Het
Gtf3c1 T C 7: 125,244,914 (GRCm39) T1707A possibly damaging Het
Gucy2c C T 6: 136,674,937 (GRCm39) V1049M probably benign Het
Gucy2g A G 19: 55,229,583 (GRCm39) V29A probably damaging Het
Hecw1 A T 13: 14,609,044 (GRCm39) M1K probably null Het
Hmcn1 T C 1: 150,736,118 (GRCm39) D117G probably damaging Het
Ifnab T A 4: 88,609,350 (GRCm39) T39S possibly damaging Het
Lcorl A G 5: 45,904,566 (GRCm39) Y171H probably damaging Het
Ly6g6c C T 17: 35,288,437 (GRCm39) P103L probably damaging Het
Macf1 T G 4: 123,325,936 (GRCm39) E5189A probably damaging Het
Mapkap1 A G 2: 34,453,151 (GRCm39) E348G probably damaging Het
Med25 G T 7: 44,534,325 (GRCm39) A280D probably damaging Het
Mep1b C A 18: 21,233,108 (GRCm39) A703E probably benign Het
Morn5 T A 2: 35,944,990 (GRCm39) N71K probably benign Het
Mtmr10 T A 7: 63,970,375 (GRCm39) Y373N possibly damaging Het
Myo1d C T 11: 80,565,460 (GRCm39) E426K probably damaging Het
Ncbp1 G C 4: 46,155,756 (GRCm39) V302L probably benign Het
Notch4 A G 17: 34,801,520 (GRCm39) T1123A possibly damaging Het
Nudt18 T A 14: 70,816,452 (GRCm39) M88K possibly damaging Het
Or12k8 A G 2: 36,975,608 (GRCm39) S51P possibly damaging Het
Or5b100-ps1 A T 19: 12,994,097 (GRCm39) D170V possibly damaging Het
Or6d12 T A 6: 116,493,632 (GRCm39) L298Q probably damaging Het
Or8g4 A T 9: 39,661,787 (GRCm39) Y35F possibly damaging Het
Pdcd6ip T C 9: 113,488,953 (GRCm39) N694S probably benign Het
Pecam1 T A 11: 106,579,773 (GRCm39) T430S probably benign Het
Plaa T G 4: 94,462,288 (GRCm39) T530P probably benign Het
Ppfia3 G T 7: 45,010,019 (GRCm39) Q95K probably damaging Het
Ppp4r2 T C 6: 100,843,274 (GRCm39) S331P probably benign Het
Prg4 T C 1: 150,334,014 (GRCm39) T117A possibly damaging Het
Prrc2b A T 2: 32,103,531 (GRCm39) D1003V probably benign Het
Ptk2 G A 15: 73,093,658 (GRCm39) P854S possibly damaging Het
Rasef T C 4: 73,698,626 (GRCm39) I12V probably benign Het
Robo2 T G 16: 74,149,504 (GRCm39) Y108S probably damaging Het
Rp1 T A 1: 4,277,014 (GRCm39) E762V unknown Het
Rsrc1 T C 3: 66,901,987 (GRCm39) S46P unknown Het
Rttn A T 18: 89,027,546 (GRCm39) T554S probably benign Het
Sall3 C T 18: 81,017,314 (GRCm39) V205M probably damaging Het
Scn3a C A 2: 65,327,944 (GRCm39) V849L probably damaging Het
Sec23a A G 12: 59,039,069 (GRCm39) C277R probably benign Het
Sf3b3 C T 8: 111,539,639 (GRCm39) A1075T possibly damaging Het
Sfxn5 T C 6: 85,309,366 (GRCm39) D113G unknown Het
Slc22a22 C T 15: 57,126,876 (GRCm39) M64I probably benign Het
Slc5a11 C T 7: 122,857,669 (GRCm39) P253S probably damaging Het
Smarcd3 A G 5: 24,798,067 (GRCm39) F449S probably damaging Het
Sspo C T 6: 48,437,313 (GRCm39) T1357M probably damaging Het
Styx C T 14: 45,609,873 (GRCm39) T179I probably benign Het
Syt7 A T 19: 10,412,963 (GRCm39) T297S probably benign Het
Tbx19 T A 1: 164,988,135 (GRCm39) probably benign Het
Tg T A 15: 66,545,392 (GRCm39) V149E probably damaging Het
Tgfbr3l T A 8: 4,299,238 (GRCm39) L35Q probably damaging Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tmem219 T A 7: 126,490,975 (GRCm39) T161S probably damaging Het
Tox2 T A 2: 163,162,501 (GRCm39) L68H Het
Trim5 T A 7: 103,927,681 (GRCm39) D153V possibly damaging Het
Ttn T C 2: 76,580,651 (GRCm39) Y23414C probably damaging Het
Ttn A T 2: 76,582,153 (GRCm39) N22913K probably damaging Het
Ubr2 A C 17: 47,266,779 (GRCm39) M1124R possibly damaging Het
Vmn2r75 A G 7: 85,815,568 (GRCm39) S99P probably damaging Het
Wdr83 T C 8: 85,802,680 (GRCm39) D219G probably damaging Het
Wdr90 C T 17: 26,068,623 (GRCm39) V1285M probably damaging Het
Zmynd15 A T 11: 70,351,581 (GRCm39) L62F 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
R7077:Cobl UTSW 11 12,203,441 (GRCm39) missense probably benign 0.04
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'- CTGCGCACTCATGTACAAATG -3'
(R):5'- CTACATGACCATTTGTTCAGCC -3'

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