Incidental Mutation 'R7772:Cobl'
ID 598651
Institutional Source Beutler Lab
Gene Symbol Cobl
Ensembl Gene ENSMUSG00000020173
Gene Name cordon-bleu WH2 repeat
Synonyms C530045F18Rik
MMRRC Submission 045828-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7772 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 12186676-12415022 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 12204488 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 738 (G738D)
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 benign
Transcript: ENSMUST00000046755
AA Change: G738D

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000045693
Gene: ENSMUSG00000020173
AA Change: G738D

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: G656D

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000105277
Gene: ENSMUSG00000020173
AA Change: G656D

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: G713D

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000105278
Gene: ENSMUSG00000020173
AA Change: G713D

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: G731D

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000133470
Gene: ENSMUSG00000020173
AA Change: G731D

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 99% (68/69)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921536K21Rik T A 11: 3,839,784 (GRCm39) probably null Het
Adora3 T C 3: 105,815,039 (GRCm39) V263A probably benign Het
Adprhl1 C T 8: 13,298,682 (GRCm39) V83I probably damaging Het
Arfgef1 A G 1: 10,227,235 (GRCm39) V1368A possibly damaging Het
Arid4a A T 12: 71,108,363 (GRCm39) N56I possibly damaging Het
Art3 A T 5: 92,551,472 (GRCm39) Y277F probably damaging Het
Atp2a1 A T 7: 126,047,707 (GRCm39) probably null Het
Banf1 T C 19: 5,415,150 (GRCm39) K54E possibly damaging Het
Bckdk A G 7: 127,505,073 (GRCm39) Y151C probably damaging Het
C1qtnf3 C A 15: 10,958,130 (GRCm39) P58T possibly damaging Het
Cadps2 T C 6: 23,390,445 (GRCm39) R744G probably benign Het
Cdc25b A G 2: 131,031,029 (GRCm39) D118G probably damaging Het
Cnot9 G A 1: 74,566,151 (GRCm39) V181I probably damaging Het
Col18a1 T A 10: 76,904,220 (GRCm39) probably null Het
Crnkl1 A G 2: 145,772,564 (GRCm39) V171A probably benign Het
Dhx57 C T 17: 80,580,507 (GRCm39) D482N possibly damaging Het
Dpysl2 A T 14: 67,066,425 (GRCm39) probably null Het
Drd3 G T 16: 43,582,758 (GRCm39) A52S probably benign Het
Dst T C 1: 34,220,469 (GRCm39) V2091A possibly damaging Het
Evpl T C 11: 116,112,261 (GRCm39) T1810A probably benign Het
Fbxo2 T A 4: 148,248,783 (GRCm39) W92R probably damaging Het
Gas2l2 T A 11: 83,320,103 (GRCm39) D51V possibly damaging Het
Gm11232 A T 4: 71,674,818 (GRCm39) V228E possibly damaging Het
Gm14305 C T 2: 176,412,764 (GRCm39) Q219* probably null Het
Gpr137b T C 13: 13,533,991 (GRCm39) Y355C Het
Gpr39 G T 1: 125,605,334 (GRCm39) M87I possibly damaging Het
Heatr1 T C 13: 12,432,522 (GRCm39) M1089T probably benign Het
Ifi206 A T 1: 173,308,640 (GRCm39) M452K Het
Ints8 A T 4: 11,227,190 (GRCm39) I561N probably damaging Het
Itgb2 A T 10: 77,396,946 (GRCm39) K660N probably benign Het
Jun A C 4: 94,939,081 (GRCm39) V143G probably benign Het
Kalrn A G 16: 33,851,952 (GRCm39) M2076T probably benign Het
Krt10 G T 11: 99,279,913 (GRCm39) S82R unknown Het
Lipm T A 19: 34,095,291 (GRCm39) H295Q probably damaging Het
Mybpc2 A C 7: 44,165,348 (GRCm39) probably null Het
Nedd4 T C 9: 72,584,608 (GRCm39) V103A possibly damaging Het
Nol10 T C 12: 17,398,586 (GRCm39) I11T probably damaging Het
Nup210l A G 3: 90,067,233 (GRCm39) S758G probably damaging Het
Or13d1 T A 4: 52,970,713 (GRCm39) C31S probably damaging Het
Or52r1c T G 7: 102,735,388 (GRCm39) I216S probably benign Het
Or8d4 T C 9: 40,038,661 (GRCm39) I199V probably benign Het
Osbpl9 T C 4: 108,923,384 (GRCm39) H425R probably damaging Het
Parp1 G T 1: 180,416,963 (GRCm39) R582S possibly damaging Het
Piwil1 A T 5: 128,816,527 (GRCm39) R36S probably benign Het
Pjvk T C 2: 76,487,877 (GRCm39) probably null Het
Plekha6 G T 1: 133,097,760 (GRCm39) E31D possibly damaging Het
Polr1b C A 2: 128,967,464 (GRCm39) F952L probably damaging Het
Prm3 CTCTTCTTCTTCTTC CTCTTCTTCTTC 16: 10,608,565 (GRCm39) probably benign Het
Psmc6 T A 14: 45,581,107 (GRCm39) I301N probably damaging Het
Rfpl4 C A 7: 5,118,543 (GRCm39) S9I probably benign Het
Rnf14 G T 18: 38,442,629 (GRCm39) C310F probably damaging Het
Rnf17 T A 14: 56,715,144 (GRCm39) F845L probably benign Het
Robo2 T C 16: 73,758,777 (GRCm39) I665V probably benign Het
Rtl1 T A 12: 109,559,619 (GRCm39) H740L probably damaging Het
Ryr2 A G 13: 11,765,897 (GRCm39) S1280P probably benign Het
Slc12a8 G A 16: 33,371,335 (GRCm39) R126H probably damaging Het
Slc9a1 T C 4: 133,139,276 (GRCm39) F165L probably damaging Het
Snx19 T C 9: 30,340,221 (GRCm39) I453T probably damaging Het
Spag17 T C 3: 99,987,434 (GRCm39) Y1575H probably damaging Het
Spef2 T C 15: 9,704,567 (GRCm39) I415M probably damaging Het
Ssx2ip T G 3: 146,138,885 (GRCm39) I459S probably damaging Het
Stfa1 A G 16: 36,097,363 (GRCm39) probably null Het
Tmem156 A T 5: 65,237,517 (GRCm39) S48T probably damaging Het
Tmx3 T A 18: 90,545,918 (GRCm39) probably null Het
Unc93a A T 17: 13,328,639 (GRCm39) F405I possibly damaging Het
Vmn1r209 T A 13: 22,990,664 (GRCm39) I9F possibly damaging Het
Vmn2r93 A G 17: 18,533,482 (GRCm39) D462G probably damaging Het
Wdr90 T A 17: 26,080,465 (GRCm39) probably benign Het
Zfp551 T C 7: 12,152,535 (GRCm39) D66G probably damaging Het
Znrf4 A C 17: 56,819,247 (GRCm39) V20G possibly damaging Het
Zscan4d T C 7: 10,896,770 (GRCm39) E200G probably benign Het
Zup1 A T 10: 33,797,698 (GRCm39) probably null 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
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
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'- CACCTCATCTCTGATTTGGGAG -3'
(R):5'- ATAGCCAGCCATTCGTAAGGAC -3'

Sequencing Primer
(F):5'- GGAACAATTTTATATGTCGTGAGGCC -3'
(R):5'- CCAGCCATTCGTAAGGACAAGTAG -3'
Posted On 2019-11-26