Incidental Mutation 'R9319:Cobl'
ID |
706051 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cobl
|
Ensembl Gene |
ENSMUSG00000020173 |
Gene Name |
cordon-bleu WH2 repeat |
Synonyms |
C530045F18Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9319 (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 12203648 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 1018
(V1018E)
|
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: V1018E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000045693 Gene: ENSMUSG00000020173 AA Change: V1018E
Domain | Start | End | E-Value | Type |
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: V936E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000105277 Gene: ENSMUSG00000020173 AA Change: V936E
Domain | Start | End | E-Value | Type |
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: V993E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000105278 Gene: ENSMUSG00000020173 AA Change: V993E
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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: V1011E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000133470 Gene: ENSMUSG00000020173 AA Change: V1011E
Domain | Start | End | E-Value | Type |
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: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
100% (48/48) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930590J08Rik |
A |
G |
6: 91,922,446 (GRCm39) |
D811G |
probably damaging |
Het |
Akap13 |
A |
G |
7: 75,258,836 (GRCm39) |
T487A |
probably benign |
Het |
Ankrd6 |
C |
T |
4: 32,806,324 (GRCm39) |
S643N |
probably benign |
Het |
Apcdd1 |
C |
T |
18: 63,055,731 (GRCm39) |
|
probably benign |
Het |
Camk2b |
G |
T |
11: 5,927,814 (GRCm39) |
P489Q |
probably benign |
Het |
Cd22 |
T |
A |
7: 30,569,329 (GRCm39) |
N596Y |
probably damaging |
Het |
Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
Cttn |
T |
C |
7: 144,017,100 (GRCm39) |
E34G |
probably damaging |
Het |
Dhx15 |
G |
A |
5: 52,342,193 (GRCm39) |
R42* |
probably null |
Het |
Dlgap4 |
G |
T |
2: 156,546,514 (GRCm39) |
R394L |
possibly damaging |
Het |
Dlst |
G |
T |
12: 85,170,585 (GRCm39) |
R238L |
probably damaging |
Het |
Dnah7c |
A |
G |
1: 46,521,168 (GRCm39) |
E232G |
possibly damaging |
Het |
Dsg1b |
C |
T |
18: 20,531,004 (GRCm39) |
Q452* |
probably null |
Het |
Elovl3 |
A |
G |
19: 46,122,507 (GRCm39) |
T102A |
possibly damaging |
Het |
Epas1 |
A |
G |
17: 87,104,545 (GRCm39) |
S10G |
possibly damaging |
Het |
Fads2b |
G |
A |
2: 85,320,757 (GRCm39) |
R349C |
probably damaging |
Het |
Fanca |
T |
C |
8: 124,018,190 (GRCm39) |
I613V |
probably benign |
Het |
Fat1 |
T |
A |
8: 45,406,060 (GRCm39) |
V937D |
probably damaging |
Het |
Glipr1l1 |
G |
T |
10: 111,898,122 (GRCm39) |
A76S |
probably damaging |
Het |
Ino80 |
T |
C |
2: 119,205,005 (GRCm39) |
D1507G |
probably benign |
Het |
Ipo13 |
T |
C |
4: 117,769,585 (GRCm39) |
D69G |
probably benign |
Het |
Kif2c |
T |
C |
4: 117,035,445 (GRCm39) |
|
probably null |
Het |
Lrrc61 |
C |
A |
6: 48,545,228 (GRCm39) |
T17K |
probably damaging |
Het |
Ltk |
C |
A |
2: 119,590,096 (GRCm39) |
E43D |
probably benign |
Het |
Mcm3ap |
A |
G |
10: 76,318,638 (GRCm39) |
T720A |
probably damaging |
Het |
Mcoln2 |
T |
A |
3: 145,875,691 (GRCm39) |
V81D |
probably damaging |
Het |
Mturn |
T |
A |
6: 54,658,780 (GRCm39) |
V9D |
probably benign |
Het |
Nrg1 |
T |
C |
8: 32,323,204 (GRCm39) |
D249G |
probably benign |
Het |
Ntng2 |
T |
C |
2: 29,091,121 (GRCm39) |
|
probably benign |
Het |
Odad3 |
T |
C |
9: 21,906,203 (GRCm39) |
D245G |
probably damaging |
Het |
Pax3 |
T |
A |
1: 78,080,079 (GRCm39) |
M436L |
probably benign |
Het |
Pias4 |
G |
A |
10: 80,991,750 (GRCm39) |
P53S |
unknown |
Het |
Pkhd1l1 |
C |
T |
15: 44,392,974 (GRCm39) |
R1770C |
possibly damaging |
Het |
Plk1 |
C |
A |
7: 121,768,122 (GRCm39) |
D447E |
probably damaging |
Het |
Rsph10b |
A |
C |
5: 143,903,337 (GRCm39) |
M611L |
probably benign |
Het |
Scart1 |
C |
T |
7: 139,807,940 (GRCm39) |
P704S |
possibly damaging |
Het |
Snrnp40 |
T |
C |
4: 130,256,545 (GRCm39) |
L90P |
possibly damaging |
Het |
Snu13 |
T |
C |
15: 81,928,218 (GRCm39) |
T2A |
probably benign |
Het |
Sptlc3 |
C |
T |
2: 139,478,730 (GRCm39) |
A563V |
possibly damaging |
Het |
Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
Tmx3 |
A |
G |
18: 90,558,068 (GRCm39) |
I373M |
probably benign |
Het |
Tpbg |
C |
T |
9: 85,725,991 (GRCm39) |
|
probably benign |
Het |
Troap |
T |
C |
15: 98,975,444 (GRCm39) |
I176T |
probably benign |
Het |
Trpm2 |
G |
A |
10: 77,778,776 (GRCm39) |
Q397* |
probably null |
Het |
Trpm2 |
A |
T |
10: 77,785,032 (GRCm39) |
V196E |
probably damaging |
Het |
Vac14 |
T |
A |
8: 111,361,018 (GRCm39) |
I196N |
probably damaging |
Het |
Vmn2r71 |
C |
T |
7: 85,273,694 (GRCm39) |
P836L |
probably damaging |
Het |
|
Other mutations in Cobl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
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'- GTGCCTGCGAGAAGTTAGATG -3'
(R):5'- TCCATGCTGATGTGGTGAGAC -3'
Sequencing Primer
(F):5'- CGAGAAGTTAGATGTTGAATTTGCC -3'
(R):5'- TGGTGAGACCACATAAGGCAACC -3'
|
Posted On |
2022-03-25 |