Incidental Mutation 'R5158:Cobl'
| ID |
396841 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cobl
|
| Ensembl Gene |
ENSMUSG00000020173 |
| Gene Name |
cordon-bleu WH2 repeat |
| Synonyms |
C530045F18Rik |
| MMRRC Submission |
042740-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5158 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
12186676-12415022 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 12206198 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 477
(F477S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105277
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046755]
[ENSMUST00000109650]
[ENSMUST00000109651]
[ENSMUST00000172919]
[ENSMUST00000172956]
[ENSMUST00000174874]
|
| AlphaFold |
Q5NBX1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046755
AA Change: F559S
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000045693
Gene: ENSMUSG00000020173
AA Change: F559S
| 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 |
possibly damaging
Transcript: ENSMUST00000109650
AA Change: F477S
PolyPhen 2
Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000105277
Gene: ENSMUSG00000020173
AA Change: F477S
| 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: F534S
PolyPhen 2
Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000105278
Gene: ENSMUSG00000020173
AA Change: F534S
| 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 |
unknown
Transcript: ENSMUST00000172956
AA Change: S381P
|
| SMART Domains |
Protein: ENSMUSP00000134372
Gene: ENSMUSG00000020173
AA Change: S381P
| 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: F552S
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000133470
Gene: ENSMUSG00000020173
AA Change: F552S
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.9%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
C |
T |
17: 45,825,755 (GRCm39) |
T357I |
probably benign |
Het |
| Abca14 |
A |
T |
7: 119,852,652 (GRCm39) |
R872S |
probably benign |
Het |
| Adnp2 |
A |
G |
18: 80,180,758 (GRCm39) |
Y47H |
probably damaging |
Het |
| Atp6v0d2 |
T |
C |
4: 19,878,292 (GRCm39) |
N327S |
probably damaging |
Het |
| Ccdc190 |
A |
G |
1: 169,760,578 (GRCm39) |
R69G |
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,901,059 (GRCm39) |
D213G |
probably damaging |
Het |
| Clcn4 |
G |
A |
7: 7,294,618 (GRCm39) |
T381I |
possibly damaging |
Het |
| Ctdspl2 |
T |
A |
2: 121,811,774 (GRCm39) |
V205E |
probably benign |
Het |
| Dhx37 |
A |
T |
5: 125,492,216 (GRCm39) |
Y1128N |
probably damaging |
Het |
| Ehmt2 |
G |
A |
17: 35,130,640 (GRCm39) |
E1085K |
probably damaging |
Het |
| Fam149a |
T |
G |
8: 45,803,472 (GRCm39) |
I340L |
possibly damaging |
Het |
| Fut9 |
T |
A |
4: 25,620,731 (GRCm39) |
I28F |
probably benign |
Het |
| Il36g |
T |
A |
2: 24,082,798 (GRCm39) |
I191K |
probably damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,392,816 (GRCm39) |
N716D |
probably benign |
Het |
| Itgb7 |
T |
C |
15: 102,125,464 (GRCm39) |
D672G |
probably benign |
Het |
| Kat6b |
A |
G |
14: 21,720,054 (GRCm39) |
M1469V |
possibly damaging |
Het |
| Kif3a |
T |
C |
11: 53,479,578 (GRCm39) |
F430L |
probably benign |
Het |
| L3mbtl3 |
T |
C |
10: 26,179,586 (GRCm39) |
D523G |
unknown |
Het |
| Mcf2l |
A |
G |
8: 13,059,715 (GRCm39) |
Q736R |
probably damaging |
Het |
| Mpl |
T |
G |
4: 118,313,881 (GRCm39) |
D128A |
probably damaging |
Het |
| Myom3 |
T |
A |
4: 135,492,897 (GRCm39) |
C149S |
probably damaging |
Het |
| N4bp2 |
A |
G |
5: 65,965,805 (GRCm39) |
I1285V |
probably damaging |
Het |
| Nalcn |
T |
C |
14: 123,753,149 (GRCm39) |
Q279R |
probably damaging |
Het |
| Ndc1 |
T |
G |
4: 107,232,362 (GRCm39) |
S182R |
probably damaging |
Het |
| Ngf |
A |
T |
3: 102,427,445 (GRCm39) |
M65L |
possibly damaging |
Het |
| Or2n1 |
T |
A |
17: 38,486,345 (GRCm39) |
Y123* |
probably null |
Het |
| Pigb |
T |
C |
9: 72,929,683 (GRCm39) |
Y300C |
probably damaging |
Het |
| Pla2g2a |
T |
G |
4: 138,560,595 (GRCm39) |
*69G |
probably null |
Het |
| Ppp1r12b |
T |
C |
1: 134,814,166 (GRCm39) |
E379G |
probably damaging |
Het |
| Ptdss2 |
T |
C |
7: 140,731,684 (GRCm39) |
F164S |
probably benign |
Het |
| Ptprc |
T |
C |
1: 138,102,822 (GRCm39) |
T2A |
possibly damaging |
Het |
| Ptprq |
T |
A |
10: 107,370,565 (GRCm39) |
N2042I |
probably damaging |
Het |
| Rdh10 |
A |
T |
1: 16,178,221 (GRCm39) |
R164S |
probably damaging |
Het |
| Sec31a |
A |
T |
5: 100,541,180 (GRCm39) |
I309N |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,599,409 (GRCm39) |
I710N |
unknown |
Het |
| Slc25a30 |
A |
T |
14: 76,008,956 (GRCm39) |
L26Q |
probably damaging |
Het |
| Sptan1 |
G |
A |
2: 29,868,455 (GRCm39) |
V34I |
probably damaging |
Het |
| Sult1e1 |
A |
T |
5: 87,735,453 (GRCm39) |
I75N |
probably damaging |
Het |
| Trpa1 |
A |
G |
1: 14,951,885 (GRCm39) |
V938A |
probably benign |
Het |
| Vps16 |
C |
T |
2: 130,283,199 (GRCm39) |
R531C |
probably damaging |
Het |
| Zbtb22 |
C |
T |
17: 34,137,423 (GRCm39) |
H523Y |
probably damaging |
Het |
| Zfp39 |
G |
A |
11: 58,780,671 (GRCm39) |
T697M |
possibly 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 |
|
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 |
|
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'- AGTTCAACCTTTACCTACAGGC -3'
(R):5'- CTGCATGGACTTCAGCTGTTG -3'
Sequencing Primer
(F):5'- GTTCAACCTTTACCTACAGGCAAAAC -3'
(R):5'- CTGCATGGACTTCAGCTGTTGATAAC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation