Incidental Mutation 'R4942:Cobl'
ID 383213
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 # R4942 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 12186676-12415022 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 12204185 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 832 (I832N)
Ref Sequence ENSEMBL: ENSMUSP00000133470 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046755] [ENSMUST00000109650] [ENSMUST00000109651] [ENSMUST00000172919] [ENSMUST00000172956] [ENSMUST00000174874]
AlphaFold Q5NBX1
Predicted Effect probably damaging
Transcript: ENSMUST00000046755
AA Change: I839N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000045693
Gene: ENSMUSG00000020173
AA Change: I839N

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: I757N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105277
Gene: ENSMUSG00000020173
AA Change: I757N

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: I814N

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105278
Gene: ENSMUSG00000020173
AA Change: I814N

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 damaging
Transcript: ENSMUST00000174874
AA Change: I832N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000133470
Gene: ENSMUSG00000020173
AA Change: I832N

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: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.6%
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
5730522E02Rik A G 11: 25,720,472 (GRCm39) probably null Het
Adamts7 T C 9: 90,045,364 (GRCm39) S23P probably benign Het
Adamtsl1 T A 4: 86,259,451 (GRCm39) C824* probably null Het
Adgre1 A G 17: 57,713,903 (GRCm39) Y196C probably damaging Het
Arap1 A G 7: 101,051,009 (GRCm39) D542G possibly damaging Het
B3gat1 A G 9: 26,666,894 (GRCm39) D42G probably benign Het
Birc6 G A 17: 74,930,045 (GRCm39) A2412T probably damaging Het
Bnip5 T C 17: 29,122,232 (GRCm39) R420G probably benign Het
Bsn A G 9: 107,983,678 (GRCm39) Y3459H unknown Het
Cacnb1 T C 11: 97,893,809 (GRCm39) Y571C probably damaging Het
Cdk2ap2 G A 19: 4,147,508 (GRCm39) probably null Het
Cep57 A G 9: 13,724,723 (GRCm39) S265P probably damaging Het
Clca3a1 A G 3: 144,710,524 (GRCm39) I893T probably benign Het
Clca3a2 T A 3: 144,512,263 (GRCm39) E491V probably damaging Het
Cldn10 G A 14: 119,025,725 (GRCm39) G53S possibly damaging Het
Col9a2 T C 4: 120,910,316 (GRCm39) V487A possibly damaging Het
Cse1l C T 2: 166,771,714 (GRCm39) T325I probably damaging Het
Dlx6 A G 6: 6,863,468 (GRCm39) Q30R probably benign Het
Dnah8 T C 17: 30,948,116 (GRCm39) V1902A probably benign Het
Dusp8 A G 7: 141,635,965 (GRCm39) F542L possibly damaging Het
Emid1 T G 11: 5,079,430 (GRCm39) M323L probably benign Het
Ercc5 A G 1: 44,215,125 (GRCm39) D886G probably benign Het
Fam184b T C 5: 45,730,649 (GRCm39) E461G probably damaging Het
Fbn1 C A 2: 125,225,536 (GRCm39) C572F possibly damaging Het
Gigyf1 G T 5: 137,523,952 (GRCm39) V1041L possibly damaging Het
Grin3b A G 10: 79,811,556 (GRCm39) H714R probably damaging Het
Heatr1 A G 13: 12,428,391 (GRCm39) probably null Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Llgl1 C T 11: 60,600,394 (GRCm39) P581L probably benign Het
Lypd6b C A 2: 49,836,132 (GRCm39) H104Q probably benign Het
Man1a A T 10: 53,809,586 (GRCm39) probably null Het
Megf6 A T 4: 154,338,277 (GRCm39) D449V probably damaging Het
Mtor T C 4: 148,556,599 (GRCm39) V1003A probably benign Het
Ncan C A 8: 70,552,944 (GRCm39) W1096L probably damaging Het
Ndor1 C T 2: 25,138,133 (GRCm39) probably null Het
Ndufaf1 T C 2: 119,490,547 (GRCm39) E171G possibly damaging Het
Nell1 T C 7: 49,770,397 (GRCm39) V152A possibly damaging Het
Nherf4 C A 9: 44,159,915 (GRCm39) G402* probably null Het
Nt5dc1 A T 10: 34,198,673 (GRCm39) V255E probably damaging Het
Or2a20 T A 6: 43,193,928 (GRCm39) F27Y probably damaging Het
Or2y1b A T 11: 49,208,375 (GRCm39) M1L probably null Het
Or52h7 A G 7: 104,214,212 (GRCm39) I261M probably benign Het
Or52z14 G A 7: 103,253,401 (GRCm39) R180H probably benign Het
Otud7a T C 7: 63,407,171 (GRCm39) I50T probably damaging Het
P2ry13 G A 3: 59,116,983 (GRCm39) T265I probably benign Het
Pde4d A G 13: 108,996,733 (GRCm39) S12G probably benign Het
Pigk C A 3: 152,450,154 (GRCm39) N219K probably damaging Het
Plcg1 T A 2: 160,595,509 (GRCm39) probably null Het
Psd2 A T 18: 36,111,717 (GRCm39) D114V probably damaging Het
Ptch1 A T 13: 63,672,884 (GRCm39) I770N probably benign Het
Ptprq A T 10: 107,524,290 (GRCm39) M481K probably benign Het
Rnf216 A C 5: 143,078,814 (GRCm39) M45R probably damaging Het
Rpsa T A 9: 119,960,129 (GRCm39) W231R probably benign Het
Ryr1 G T 7: 28,768,998 (GRCm39) T2797N probably damaging Het
Ryr3 A T 2: 112,666,602 (GRCm39) M1468K probably damaging Het
Slc6a7 A G 18: 61,137,589 (GRCm39) Y244H probably damaging Het
Slco6c1 T A 1: 97,009,049 (GRCm39) D462V probably damaging Het
Spata31d1b A T 13: 59,864,917 (GRCm39) E688D possibly damaging Het
Srpra G A 9: 35,126,766 (GRCm39) R508H probably benign Het
Tnrc18 A T 5: 142,773,737 (GRCm39) I181N unknown Het
Tnrc6a T C 7: 122,791,836 (GRCm39) F1785L probably damaging Het
Trio A T 15: 27,752,811 (GRCm39) D2174E probably benign Het
Ttn C T 2: 76,623,600 (GRCm39) V15326I probably damaging Het
Ubap2 T A 4: 41,245,461 (GRCm39) probably benign Het
Vmn2r113 C T 17: 23,177,321 (GRCm39) P702S probably damaging Het
Vmn2r66 A T 7: 84,656,980 (GRCm39) W142R probably damaging Het
Vmn2r73 A G 7: 85,519,582 (GRCm39) Y459H probably damaging Het
Wsb2 C T 5: 117,515,550 (GRCm39) T385M 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
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'- AGGTGTGCCCCATATTCCTG -3'
(R):5'- GCTATGGACTCAAGTATGGCC -3'

Sequencing Primer
(F):5'- CCCATATTCCTGTGAGGCAG -3'
(R):5'- TATGGACTCAAGTATGGCCTCACG -3'
Posted On 2016-04-27