Incidental Mutation 'R6000:Cobl'
ID 480794
Institutional Source Beutler Lab
Gene Symbol Cobl
Ensembl Gene ENSMUSG00000020173
Gene Name cordon-bleu WH2 repeat
Synonyms C530045F18Rik
MMRRC Submission 044179-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6000 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 12186676-12415022 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 12319684 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 231 (F231L)
Ref Sequence ENSEMBL: ENSMUSP00000133669 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046755] [ENSMUST00000109650] [ENSMUST00000109651] [ENSMUST00000172827] [ENSMUST00000172919] [ENSMUST00000172956] [ENSMUST00000174874]
AlphaFold Q5NBX1
Predicted Effect probably benign
Transcript: ENSMUST00000046755
AA Change: F231L

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000045693
Gene: ENSMUSG00000020173
AA Change: F231L

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: F231L

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000105277
Gene: ENSMUSG00000020173
AA Change: F231L

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: F231L

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000105278
Gene: ENSMUSG00000020173
AA Change: F231L

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 probably benign
Transcript: ENSMUST00000136549
SMART Domains Protein: ENSMUSP00000114779
Gene: ENSMUSG00000020173

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: F137L
SMART Domains Protein: ENSMUSP00000119008
Gene: ENSMUSG00000020173
AA Change: F137L

DomainStartEndE-ValueType
Pfam:Cobl 35 142 5e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172827
AA Change: F3L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000133368
Gene: ENSMUSG00000020173
AA Change: F3L

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: ENSMUST00000172919
AA Change: F231L

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000133669
Gene: ENSMUSG00000020173
AA Change: F231L

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
AA Change: F231L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000134372
Gene: ENSMUSG00000020173
AA Change: F231L

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: F224L

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000133470
Gene: ENSMUSG00000020173
AA Change: F224L

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: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.7%
Validation Efficiency 100% (64/64)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310034C09Rik T C 16: 88,556,427 (GRCm39) C214R possibly damaging Het
Ahnak A T 19: 8,990,475 (GRCm39) K3920* probably null Het
Alox12b A G 11: 69,060,394 (GRCm39) D650G probably damaging Het
Amt A T 9: 108,178,684 (GRCm39) Y400F probably benign Het
Ankrd11 A G 8: 123,617,934 (GRCm39) S1973P possibly damaging Het
Aoc1 A T 6: 48,884,573 (GRCm39) T539S probably benign Het
Arhgap44 CTGCT CTGCTTGCT 11: 64,922,910 (GRCm39) probably null Het
Ccdc15 C T 9: 37,227,060 (GRCm39) G292S probably benign Het
Ccdc162 C T 10: 41,437,159 (GRCm39) C287Y possibly damaging Het
Ccn6 T C 10: 39,034,296 (GRCm39) Y102C probably damaging Het
Cdk15 G A 1: 59,328,818 (GRCm39) G244D probably damaging Het
Cep290 T A 10: 100,377,649 (GRCm39) Y1560N probably damaging Het
Cfap251 A G 5: 123,392,435 (GRCm39) probably benign Het
Cic A C 7: 24,971,423 (GRCm39) I385L probably benign Het
Cpeb1 T C 7: 81,011,428 (GRCm39) D171G possibly damaging Het
Csnk1g2 T A 10: 80,474,778 (GRCm39) V305E probably damaging Het
Cyp2c29 A G 19: 39,296,050 (GRCm39) probably null Het
Dner A T 1: 84,361,650 (GRCm39) M653K possibly damaging Het
Dst T A 1: 34,251,304 (GRCm39) M4311K possibly damaging Het
Ep400 A G 5: 110,831,067 (GRCm39) S2200P unknown Het
Ephb2 A T 4: 136,411,341 (GRCm39) S440T possibly damaging Het
Ercc1 A T 7: 19,081,086 (GRCm39) probably benign Het
Folh1 T A 7: 86,375,142 (GRCm39) N615Y probably benign Het
Gm7298 T C 6: 121,742,038 (GRCm39) Y487H possibly damaging Het
Gucy1b2 A T 14: 62,656,499 (GRCm39) I286N probably benign Het
Hr A G 14: 70,805,273 (GRCm39) D1005G probably damaging Het
Ifrd1 C A 12: 40,266,243 (GRCm39) V117F possibly damaging Het
Ift140 A T 17: 25,255,934 (GRCm39) T210S probably benign Het
Igll1 C A 16: 16,681,805 (GRCm39) probably benign Het
Ino80 G T 2: 119,204,989 (GRCm39) S1512R probably benign Het
Intu A T 3: 40,608,578 (GRCm39) K197* probably null Het
Kdm6b A G 11: 69,294,424 (GRCm39) L1216P unknown Het
Klrb1c T G 6: 128,761,120 (GRCm39) D169A probably damaging Het
Lamp3 T A 16: 19,519,698 (GRCm39) T162S possibly damaging Het
Mapk10 G A 5: 103,114,342 (GRCm39) P319S probably damaging Het
Mapk10 G A 5: 103,114,341 (GRCm39) P319L probably damaging Het
Mical3 T C 6: 120,998,281 (GRCm39) T702A probably benign Het
Mstn C T 1: 53,100,828 (GRCm39) probably benign Het
Nckap1l T C 15: 103,387,242 (GRCm39) S706P probably benign Het
Nckap5l G A 15: 99,324,766 (GRCm39) T579I probably damaging Het
Or13p3 A T 4: 118,567,441 (GRCm39) N279I probably damaging Het
Or4a27 C A 2: 88,559,575 (GRCm39) A123S probably damaging Het
Or8s16 G A 15: 98,211,317 (GRCm39) T38I probably benign Het
Pcdh18 A C 3: 49,708,913 (GRCm39) S801A probably damaging Het
Pde11a A T 2: 75,848,204 (GRCm39) D874E probably damaging Het
Pfdn6 G T 17: 34,158,589 (GRCm39) P62T probably damaging Het
Pkd1l1 A G 11: 8,900,427 (GRCm39) I38T probably benign Het
Prkdc A T 16: 15,647,561 (GRCm39) I3662F possibly damaging Het
Psg26 A T 7: 18,216,617 (GRCm39) L74* probably null Het
Rassf6 A G 5: 90,751,736 (GRCm39) V341A probably damaging Het
Rsad2 C A 12: 26,497,150 (GRCm39) probably null Het
Rwdd3 A G 3: 120,950,162 (GRCm39) Y95H probably damaging Het
Scfd1 A G 12: 51,492,457 (GRCm39) I589V possibly damaging Het
Sgsm1 A T 5: 113,434,704 (GRCm39) I131N probably damaging Het
Tecpr1 A G 5: 144,148,239 (GRCm39) S389P probably benign Het
Tle3 T A 9: 61,281,296 (GRCm39) I29N probably damaging Het
Tmem63c C A 12: 87,103,971 (GRCm39) N73K probably damaging Het
Tpm2 T A 4: 43,518,301 (GRCm39) probably null Het
Trak2 A T 1: 58,950,971 (GRCm39) D405E possibly damaging Het
Ttn C A 2: 76,575,516 (GRCm39) A23380S probably damaging Het
Ttn A T 2: 76,715,495 (GRCm39) probably benign Het
Tub T C 7: 108,628,857 (GRCm39) S391P probably damaging Het
Ush2a G T 1: 187,999,223 (GRCm39) E178* probably null Het
Vamp9 G T 5: 100,089,226 (GRCm39) A164S probably benign Het
Ylpm1 C A 12: 85,044,030 (GRCm39) T256K unknown Het
Zfp1007 A G 5: 109,824,730 (GRCm39) V240A 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
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
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'- AGCTGCCTTAAGCCTTTGG -3'
(R):5'- TGATTTCCTGTGGACTGCAG -3'

Sequencing Primer
(F):5'- CCTTAAGCCTTTGGGGAAGAATC -3'
(R):5'- CAGGGCTTTGAGGTAGCAC -3'
Posted On 2017-06-26