Incidental Mutation 'R5637:Cobl'
ID 440455
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 # R5637 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 12186676-12415022 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) C to T at 12246531 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133470 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046755] [ENSMUST00000109650] [ENSMUST00000109651] [ENSMUST00000172827] [ENSMUST00000172919] [ENSMUST00000172956] [ENSMUST00000174874]
AlphaFold Q5NBX1
Predicted Effect probably benign
Transcript: ENSMUST00000046755
SMART Domains Protein: ENSMUSP00000045693
Gene: ENSMUSG00000020173

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
SMART Domains Protein: ENSMUSP00000105277
Gene: ENSMUSG00000020173

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
SMART Domains Protein: ENSMUSP00000105278
Gene: ENSMUSG00000020173

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 unknown
Transcript: ENSMUST00000136549
AA Change: R157H
SMART Domains Protein: ENSMUSP00000114779
Gene: ENSMUSG00000020173
AA Change: R157H

DomainStartEndE-ValueType
low complexity region 83 88 N/A INTRINSIC
low complexity region 115 131 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172827
SMART Domains Protein: ENSMUSP00000133368
Gene: ENSMUSG00000020173

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
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
SMART Domains Protein: ENSMUSP00000133470
Gene: ENSMUSG00000020173

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: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acmsd T C 1: 127,694,050 (GRCm39) F327L probably damaging Het
Adgrl3 C A 5: 81,841,391 (GRCm39) S824Y probably damaging Het
Arfip2 A G 7: 105,286,370 (GRCm39) M144T probably damaging Het
Arhgap32 A G 9: 32,158,502 (GRCm39) N179S probably damaging Het
Ash2l T C 8: 26,317,339 (GRCm39) Y249C probably damaging Het
Ccndbp1 A G 2: 120,842,165 (GRCm39) T141A probably benign Het
Cd177 T A 7: 24,455,748 (GRCm39) H258L probably benign Het
Celsr3 T C 9: 108,714,332 (GRCm39) W1956R probably damaging Het
Cep295 T C 9: 15,245,108 (GRCm39) probably null Het
Cngb1 T C 8: 95,984,549 (GRCm39) H420R probably damaging Het
Cobll1 T C 2: 64,956,247 (GRCm39) D337G possibly damaging Het
Dmrta1 A G 4: 89,577,068 (GRCm39) N175D probably benign Het
Dnah7b G T 1: 46,395,674 (GRCm39) V3859L possibly damaging Het
Dnah7c A G 1: 46,799,521 (GRCm39) probably null Het
Dusp4 C A 8: 35,284,451 (GRCm39) H255Q probably damaging Het
Evx1 T C 6: 52,292,751 (GRCm39) V134A possibly damaging Het
F12 T C 13: 55,570,228 (GRCm39) K93E possibly damaging Het
Fam186a A C 15: 99,839,628 (GRCm39) H2205Q possibly damaging Het
Fcgbpl1 A G 7: 27,852,277 (GRCm39) N1267D probably benign Het
Frem2 A G 3: 53,560,358 (GRCm39) I1383T probably damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gpr158 A G 2: 21,788,083 (GRCm39) I575V probably benign Het
Hdc A G 2: 126,458,109 (GRCm39) V71A probably benign Het
Helb G A 10: 119,941,353 (GRCm39) T445M probably benign Het
Inppl1 A T 7: 101,478,055 (GRCm39) S652R probably benign Het
Itpripl1 T C 2: 126,984,044 (GRCm39) D26G probably damaging Het
Klc1 T A 12: 111,740,842 (GRCm39) L106H probably damaging Het
Klhl25 T A 7: 75,515,540 (GRCm39) probably null Het
Krt6a T C 15: 101,600,714 (GRCm39) D318G probably benign Het
Lrp2 T C 2: 69,302,762 (GRCm39) N2989S probably damaging Het
Lta4h A G 10: 93,304,731 (GRCm39) probably null Het
Man1c1 A G 4: 134,318,735 (GRCm39) S251P probably damaging Het
Mapre2 T C 18: 23,886,919 (GRCm39) probably benign Het
Mfap3l A T 8: 61,109,821 (GRCm39) I66F probably damaging Het
Mvk A G 5: 114,594,003 (GRCm39) E286G possibly damaging Het
Nos1ap T A 1: 170,176,968 (GRCm39) K145M probably damaging Het
Or14a260 G A 7: 85,984,812 (GRCm39) T264I probably benign Het
Or4f52 T A 2: 111,061,456 (GRCm39) K227N probably benign Het
Or7d11 A T 9: 19,966,279 (GRCm39) V160D possibly damaging Het
Pcdh9 A G 14: 94,123,198 (GRCm39) F991L possibly damaging Het
Pcdha9 T C 18: 37,131,426 (GRCm39) V165A probably benign Het
Pcsk6 A G 7: 65,618,745 (GRCm39) H437R probably damaging Het
Pfas C T 11: 68,884,149 (GRCm39) V589M probably damaging Het
Prpf40a A G 2: 53,046,746 (GRCm39) V288A possibly damaging Het
Rnf183 T C 4: 62,346,387 (GRCm39) D137G probably benign Het
Rsph6a A G 7: 18,788,820 (GRCm39) S51G probably benign Het
Scap G A 9: 110,210,640 (GRCm39) A991T possibly damaging Het
Sdk2 C A 11: 113,724,005 (GRCm39) V1222F probably damaging Het
Sdr16c6 T A 4: 4,063,232 (GRCm39) N181I possibly damaging Het
Semp2l2a A T 8: 13,887,713 (GRCm39) M126K possibly damaging Het
Serpinb7 A T 1: 107,356,037 (GRCm39) D20V probably damaging Het
Sh3bp2 C A 5: 34,718,392 (GRCm39) R531S possibly damaging Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Sox2 A G 3: 34,704,677 (GRCm39) N38S probably benign Het
Spg7 C A 8: 123,821,314 (GRCm39) Q680K possibly damaging Het
Styk1 T C 6: 131,277,381 (GRCm39) E331G possibly damaging Het
Tkfc G A 19: 10,571,897 (GRCm39) R380W probably benign Het
Trib3 A G 2: 152,180,410 (GRCm39) F261S probably damaging Het
Ubr1 T A 2: 120,793,998 (GRCm39) Q62L possibly damaging Het
Vmn2r54 T C 7: 12,349,296 (GRCm39) Y762C probably benign Het
Vmn2r97 T A 17: 19,167,628 (GRCm39) Y627* probably null Het
Zfp12 A G 5: 143,231,451 (GRCm39) K625E probably damaging Het
Zw10 T C 9: 48,968,950 (GRCm39) V38A 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
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'- ACCCGGGGATTTCAGATAAGTC -3'
(R):5'- GCAATGCTGACGTCAATTGGC -3'

Sequencing Primer
(F):5'- TTGCAAAGTCCTTACCCCTTCAAAG -3'
(R):5'- ATTGGCCAACACCACTCTGTG -3'
Posted On 2016-11-08