Incidental Mutation 'R7519:Cobl'
ID 582574
Institutional Source Beutler Lab
Gene Symbol Cobl
Ensembl Gene ENSMUSG00000020173
Gene Name cordon-bleu WH2 repeat
Synonyms C530045F18Rik
MMRRC Submission 045591-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7519 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 12186676-12415022 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 12203124 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 1193 (I1193F)
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: I1193F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045693
Gene: ENSMUSG00000020173
AA Change: I1193F

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: I1111F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105277
Gene: ENSMUSG00000020173
AA Change: I1111F

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: I1168F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105278
Gene: ENSMUSG00000020173
AA Change: I1168F

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: I1186F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133470
Gene: ENSMUSG00000020173
AA Change: I1186F

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: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (54/54)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik G A 7: 27,274,155 (GRCm39) R132K Het
Acaca T C 11: 84,136,682 (GRCm39) S571P probably damaging Het
Adamts20 T G 15: 94,223,869 (GRCm39) K1286N possibly damaging Het
Adamts7 A G 9: 90,079,132 (GRCm39) D1477G probably benign Het
Alox12b C T 11: 69,054,039 (GRCm39) T207I probably benign Het
Arid1b GGGCGGCGGCGGCGGCGGCGGCGG GGGCGGCGGCGGCGGCGGCGGCGGCGGCGG 17: 5,046,119 (GRCm39) probably benign Het
Arid1b CGGCGG CGGCGGTGGCGG 17: 5,046,128 (GRCm39) probably benign Het
Aspm T A 1: 139,418,074 (GRCm39) N2934K possibly damaging Het
Axin2 T G 11: 108,833,072 (GRCm39) V419G probably benign Het
B4galnt4 A G 7: 140,644,257 (GRCm39) T108A probably damaging Het
Cacna1s G A 1: 135,998,494 (GRCm39) R174Q probably damaging Het
Cdh18 G T 15: 23,474,298 (GRCm39) A723S possibly damaging Het
Ces4a T C 8: 105,871,851 (GRCm39) M307T probably damaging Het
Crb2 G T 2: 37,683,332 (GRCm39) G945W probably damaging Het
Ctnna1 T G 18: 35,307,424 (GRCm39) I140M probably benign Het
Dnah5 T C 15: 28,390,629 (GRCm39) S3213P probably damaging Het
Fbln7 A G 2: 128,735,785 (GRCm39) S258G probably benign Het
Fbxo15 T G 18: 84,982,359 (GRCm39) probably benign Het
Fcgbp A G 7: 27,785,724 (GRCm39) Y387C probably damaging Het
Flt3l G A 7: 44,783,269 (GRCm39) T176I unknown Het
Galk2 G A 2: 125,825,172 (GRCm39) R456H possibly damaging Het
Gm10840 T C 11: 106,051,716 (GRCm39) L14P unknown Het
Gm5591 T C 7: 38,220,094 (GRCm39) T260A possibly damaging Het
Gm6370 T A 5: 146,430,638 (GRCm39) D274E probably damaging Het
Grhl2 T A 15: 37,336,556 (GRCm39) D484E probably damaging Het
Hbp1 A T 12: 31,983,374 (GRCm39) V360D probably damaging Het
Heatr5b G T 17: 79,062,646 (GRCm39) Q1968K probably benign Het
Igsf8 C T 1: 172,143,874 (GRCm39) T72M probably benign Het
Kera A T 10: 97,444,884 (GRCm39) N81I probably damaging Het
Klhl14 C T 18: 21,784,900 (GRCm39) V176I probably benign Het
Klrb1 A T 6: 128,689,252 (GRCm39) V73E probably damaging Het
Krtap31-2 T C 11: 99,827,501 (GRCm39) L111P possibly damaging Het
Mbtd1 T C 11: 93,799,725 (GRCm39) S106P probably damaging Het
Nckap5l T C 15: 99,324,128 (GRCm39) T792A probably benign Het
Ndufaf4 A C 4: 24,901,847 (GRCm39) T132P probably damaging Het
Neo1 A G 9: 58,785,348 (GRCm39) V1453A probably benign Het
Or5w13 T C 2: 87,523,753 (GRCm39) I158V probably benign Het
Or6c76 A C 10: 129,612,091 (GRCm39) I103L probably benign Het
Pcdha11 T A 18: 37,139,319 (GRCm39) L316* probably null Het
Pcdha7 T C 18: 37,109,285 (GRCm39) M770T possibly damaging Het
Pcsk1 T C 13: 75,258,984 (GRCm39) S253P probably damaging Het
Phtf1 T C 3: 103,876,435 (GRCm39) Y12H probably damaging Het
Pkd1l2 T C 8: 117,792,268 (GRCm39) N508S probably benign Het
Pla1a A G 16: 38,235,208 (GRCm39) I162T possibly damaging Het
Rb1 A T 14: 73,502,048 (GRCm39) L446M probably damaging Het
Retn A T 8: 3,706,079 (GRCm39) S22C probably damaging Het
Snx25 A G 8: 46,569,309 (GRCm39) L196P probably damaging Het
Sp110 G A 1: 85,506,813 (GRCm39) R417C probably benign Het
Spata31d1b G A 13: 59,864,726 (GRCm39) D625N probably benign Het
Sycp2 T C 2: 177,988,126 (GRCm39) *1501W probably null Het
Tarbp1 T G 8: 127,160,639 (GRCm39) T1271P possibly damaging Het
Uba1y T C Y: 821,567 (GRCm39) F154L probably benign Het
Ubr1 T A 2: 120,705,925 (GRCm39) I1513F possibly damaging Het
Vmn2r110 T A 17: 20,804,524 (GRCm39) Q132L probably benign Het
Vwf A T 6: 125,644,506 (GRCm39) T2454S Het
Wdr33 C A 18: 32,029,823 (GRCm39) F1007L unknown Het
Zfp398 A G 6: 47,836,407 (GRCm39) H201R 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
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
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'- CAATCATCAGCCTCTCTAGTGTTG -3'
(R):5'- AACCCCAGGAAATTGTGAGC -3'

Sequencing Primer
(F):5'- CTCTCTAGTGTTGTTATTCGAATGC -3'
(R):5'- AATCCACCCTGACTAGCTATATTATC -3'
Posted On 2019-10-17