Incidental Mutation 'R8320:Cobl'
ID |
641919 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cobl
|
Ensembl Gene |
ENSMUSG00000020173 |
Gene Name |
cordon-bleu WH2 repeat |
Synonyms |
C530045F18Rik |
MMRRC Submission |
067722-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8320 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
12186676-12415022 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 12217001 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 496
(S496P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045693
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046755]
[ENSMUST00000109650]
[ENSMUST00000109651]
[ENSMUST00000172827]
[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: S496P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000045693 Gene: ENSMUSG00000020173 AA Change: S496P
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 damaging
Transcript: ENSMUST00000109650
AA Change: S414P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105277 Gene: ENSMUSG00000020173 AA Change: S414P
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 damaging
Transcript: ENSMUST00000109651
AA Change: S471P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105278 Gene: ENSMUSG00000020173 AA Change: S471P
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: ENSMUST00000172827
|
SMART Domains |
Protein: ENSMUSP00000133368 Gene: ENSMUSG00000020173
Domain | Start | End | E-Value | Type |
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
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 damaging
Transcript: ENSMUST00000174874
AA Change: S489P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000133470 Gene: ENSMUSG00000020173 AA Change: S489P
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: 99.6%
- 20x: 98.8%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asb10 |
A |
G |
5: 24,742,626 (GRCm39) |
|
probably null |
Het |
Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
Clec3a |
T |
C |
8: 115,152,369 (GRCm39) |
V125A |
probably benign |
Het |
Clspn |
A |
G |
4: 126,457,743 (GRCm39) |
D258G |
possibly damaging |
Het |
Cnn3 |
T |
G |
3: 121,243,635 (GRCm39) |
L32R |
probably damaging |
Het |
Cntnap5a |
T |
C |
1: 116,374,466 (GRCm39) |
F993L |
possibly damaging |
Het |
Dmxl2 |
A |
G |
9: 54,291,043 (GRCm39) |
V2469A |
probably benign |
Het |
Egfr |
T |
C |
11: 16,841,251 (GRCm39) |
F714S |
probably damaging |
Het |
Erap1 |
G |
C |
13: 74,814,668 (GRCm39) |
E465Q |
probably benign |
Het |
Ercc6 |
T |
C |
14: 32,242,972 (GRCm39) |
V204A |
probably benign |
Het |
Fbln2 |
C |
T |
6: 91,234,749 (GRCm39) |
T689I |
possibly damaging |
Het |
Fbxw13 |
G |
T |
9: 109,012,134 (GRCm39) |
T311K |
probably benign |
Het |
Foxj2 |
T |
A |
6: 122,810,649 (GRCm39) |
S210T |
probably benign |
Het |
Gnl1 |
A |
G |
17: 36,293,490 (GRCm39) |
N225S |
probably damaging |
Het |
Grid2 |
T |
C |
6: 63,233,917 (GRCm39) |
I26T |
probably benign |
Het |
Gzmd |
A |
G |
14: 56,367,190 (GRCm39) |
I234T |
probably benign |
Het |
Igkv2-137 |
GA |
GAA |
6: 67,533,154 (GRCm39) |
|
probably null |
Het |
Kif26b |
T |
C |
1: 178,711,641 (GRCm39) |
|
probably null |
Het |
Klk1b1 |
C |
T |
7: 43,619,767 (GRCm39) |
R109C |
possibly damaging |
Het |
Klra10 |
A |
G |
6: 130,246,211 (GRCm39) |
C255R |
probably damaging |
Het |
Lgi4 |
T |
C |
7: 30,768,366 (GRCm39) |
V455A |
probably benign |
Het |
Mucl3 |
T |
C |
17: 35,954,530 (GRCm39) |
T11A |
probably benign |
Het |
Neb |
C |
A |
2: 52,186,343 (GRCm39) |
V910L |
probably benign |
Het |
Pigg |
G |
A |
5: 108,495,717 (GRCm39) |
R918H |
probably benign |
Het |
Poln |
A |
G |
5: 34,307,171 (GRCm39) |
V10A |
possibly damaging |
Het |
Polr1a |
T |
A |
6: 71,918,368 (GRCm39) |
M642K |
probably damaging |
Het |
Rasal1 |
C |
T |
5: 120,804,420 (GRCm39) |
R431C |
probably benign |
Het |
Rfc1 |
A |
T |
5: 65,460,379 (GRCm39) |
Y167* |
probably null |
Het |
Rnf17 |
TG |
T |
14: 56,661,999 (GRCm39) |
132 |
probably null |
Het |
Sars2 |
C |
T |
7: 28,446,293 (GRCm39) |
T174I |
probably damaging |
Het |
Septin4 |
T |
C |
11: 87,480,560 (GRCm39) |
V398A |
possibly damaging |
Het |
Slc6a2 |
C |
T |
8: 93,719,476 (GRCm39) |
T397I |
probably benign |
Het |
Smarca4 |
G |
T |
9: 21,588,798 (GRCm39) |
R1200L |
probably benign |
Het |
Stx7 |
G |
T |
10: 24,055,046 (GRCm39) |
A63S |
probably damaging |
Het |
Sval3 |
G |
A |
6: 41,949,458 (GRCm39) |
V99I |
probably benign |
Het |
Syna |
A |
G |
5: 134,588,574 (GRCm39) |
I125T |
possibly damaging |
Het |
Syne2 |
T |
C |
12: 76,150,604 (GRCm39) |
S1827P |
probably damaging |
Het |
Taf4b |
T |
C |
18: 14,916,749 (GRCm39) |
V33A |
possibly damaging |
Het |
Tpcn2 |
C |
T |
7: 144,820,359 (GRCm39) |
R373H |
possibly damaging |
Het |
Trpm1 |
A |
G |
7: 63,918,541 (GRCm39) |
D1511G |
possibly damaging |
Het |
Ttc3 |
C |
A |
16: 94,219,535 (GRCm39) |
R487S |
probably damaging |
Het |
Tubb3 |
T |
C |
8: 124,147,594 (GRCm39) |
S176P |
possibly damaging |
Het |
Zfp189 |
C |
G |
4: 49,530,180 (GRCm39) |
Q428E |
probably benign |
Het |
Zscan4d |
C |
T |
7: 10,799,942 (GRCm39) |
V316M |
probably benign |
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 |
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'- TGAAACTTGTCCTCCAGTCAG -3'
(R):5'- TTAGGCAGCATGACACTCTGAG -3'
Sequencing Primer
(F):5'- TTGTCCTCCAGTCAGAGAGGAAC -3'
(R):5'- CAGCATGACACTCTGAGTAGATTTTG -3'
|
Posted On |
2020-07-28 |