Incidental Mutation 'IGL02754:Cobl'
| ID |
306353 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cobl
|
| Ensembl Gene |
ENSMUSG00000020173 |
| Gene Name |
cordon-bleu WH2 repeat |
| Synonyms |
C530045F18Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02754
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
12186676-12415022 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 12204370 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 752
(K752N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105278
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046755]
[ENSMUST00000109650]
[ENSMUST00000109651]
[ENSMUST00000172919]
[ENSMUST00000172956]
[ENSMUST00000174874]
|
| AlphaFold |
Q5NBX1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046755
AA Change: K777N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000045693
Gene: ENSMUSG00000020173
AA Change: K777N
| 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: K695N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105277
Gene: ENSMUSG00000020173
AA Change: K695N
| 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: K752N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105278
Gene: ENSMUSG00000020173
AA Change: K752N
| 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 damaging
Transcript: ENSMUST00000174874
AA Change: K770N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133470
Gene: ENSMUSG00000020173
AA Change: K770N
| 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 |
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AW551984 |
T |
A |
9: 39,507,922 (GRCm39) |
R405* |
probably null |
Het |
| AW551984 |
C |
T |
9: 39,504,624 (GRCm39) |
|
probably null |
Het |
| Bdp1 |
T |
C |
13: 100,197,481 (GRCm39) |
E968G |
possibly damaging |
Het |
| Ccdc68 |
T |
C |
18: 70,076,935 (GRCm39) |
|
probably null |
Het |
| Ccdc87 |
T |
A |
19: 4,889,889 (GRCm39) |
L127H |
probably damaging |
Het |
| Cdk5r1 |
G |
T |
11: 80,368,569 (GRCm39) |
A79S |
probably benign |
Het |
| Cdyl |
A |
T |
13: 35,867,725 (GRCm39) |
|
probably benign |
Het |
| Cfdp1 |
A |
G |
8: 112,580,766 (GRCm39) |
|
probably benign |
Het |
| Chi3l1 |
A |
T |
1: 134,111,339 (GRCm39) |
I62F |
probably damaging |
Het |
| Cnot1 |
A |
T |
8: 96,481,706 (GRCm39) |
I789K |
probably benign |
Het |
| Cstdc5 |
G |
A |
16: 36,179,899 (GRCm39) |
P73S |
probably benign |
Het |
| Dcaf6 |
T |
C |
1: 165,165,915 (GRCm39) |
|
probably null |
Het |
| Ece2 |
A |
T |
16: 20,451,398 (GRCm39) |
I197F |
probably damaging |
Het |
| Eif2b5 |
T |
G |
16: 20,321,536 (GRCm39) |
V363G |
possibly damaging |
Het |
| Gca |
T |
C |
2: 62,502,702 (GRCm39) |
S37P |
probably benign |
Het |
| Ghsr |
A |
C |
3: 27,426,645 (GRCm39) |
I234L |
probably damaging |
Het |
| Grin3b |
A |
T |
10: 79,808,723 (GRCm39) |
I158F |
possibly damaging |
Het |
| Gtf2h2 |
A |
T |
13: 100,617,747 (GRCm39) |
D178E |
probably damaging |
Het |
| Herc2 |
A |
G |
7: 55,747,246 (GRCm39) |
E461G |
probably damaging |
Het |
| Hsph1 |
T |
A |
5: 149,547,057 (GRCm39) |
N531I |
possibly damaging |
Het |
| Insl6 |
G |
T |
19: 29,302,529 (GRCm39) |
Q63K |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,592,806 (GRCm39) |
N3771S |
probably benign |
Het |
| Lrp8 |
T |
C |
4: 107,691,952 (GRCm39) |
|
probably null |
Het |
| Lvrn |
C |
T |
18: 47,023,971 (GRCm39) |
Q773* |
probably null |
Het |
| Mterf1b |
T |
C |
5: 4,246,478 (GRCm39) |
F40L |
possibly damaging |
Het |
| Nrg1 |
G |
A |
8: 32,316,391 (GRCm39) |
|
probably benign |
Het |
| Or10ak13 |
T |
A |
4: 118,639,117 (GRCm39) |
I222F |
possibly damaging |
Het |
| Or1n1 |
T |
A |
2: 36,750,232 (GRCm39) |
I43F |
probably damaging |
Het |
| Or5p79 |
T |
C |
7: 108,221,880 (GRCm39) |
I287T |
possibly damaging |
Het |
| Pax5 |
C |
T |
4: 44,570,059 (GRCm39) |
V319I |
probably damaging |
Het |
| Plcz1 |
T |
A |
6: 139,956,307 (GRCm39) |
T321S |
probably benign |
Het |
| Plekha6 |
A |
G |
1: 133,212,676 (GRCm39) |
E660G |
probably damaging |
Het |
| Prep |
T |
C |
10: 44,943,428 (GRCm39) |
M1T |
probably null |
Het |
| Prickle1 |
C |
T |
15: 93,399,034 (GRCm39) |
S598N |
possibly damaging |
Het |
| Prtn3 |
A |
G |
10: 79,716,932 (GRCm39) |
Q99R |
probably benign |
Het |
| Rad50 |
A |
G |
11: 53,592,883 (GRCm39) |
V89A |
probably damaging |
Het |
| Ret |
T |
C |
6: 118,153,213 (GRCm39) |
Y485C |
probably benign |
Het |
| Setd2 |
T |
A |
9: 110,379,124 (GRCm39) |
F980I |
possibly damaging |
Het |
| Slc44a4 |
A |
G |
17: 35,140,279 (GRCm39) |
Y228C |
probably damaging |
Het |
| Tex10 |
C |
T |
4: 48,435,028 (GRCm39) |
C779Y |
possibly damaging |
Het |
| Tfdp2 |
T |
G |
9: 96,199,592 (GRCm39) |
S285A |
probably benign |
Het |
| Thsd4 |
T |
A |
9: 59,896,380 (GRCm39) |
|
probably benign |
Het |
| Tmem106a |
A |
C |
11: 101,481,219 (GRCm39) |
E242D |
probably benign |
Het |
| Ttc22 |
T |
C |
4: 106,495,669 (GRCm39) |
V341A |
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,138,095 (GRCm39) |
S1151T |
probably damaging |
Het |
| Ubr4 |
G |
A |
4: 139,120,470 (GRCm39) |
|
probably null |
Het |
| Vmn1r206 |
A |
T |
13: 22,805,060 (GRCm39) |
L49* |
probably null |
Het |
| Vmn1r233 |
A |
T |
17: 21,214,887 (GRCm39) |
F21Y |
probably benign |
Het |
| Vmn1r233 |
A |
T |
17: 21,214,886 (GRCm39) |
F21L |
probably benign |
Het |
| Vmn2r15 |
A |
T |
5: 109,441,134 (GRCm39) |
C241* |
probably null |
Het |
| Zmym6 |
T |
A |
4: 127,003,764 (GRCm39) |
|
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 |
12,204,371 (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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation