Incidental Mutation 'IGL01734:Cobl'
| ID |
105647 |
| 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 # |
IGL01734
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
12186676-12415022 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 12204980 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133470
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046755]
[ENSMUST00000109650]
[ENSMUST00000109651]
[ENSMUST00000172919]
[ENSMUST00000172956]
[ENSMUST00000174874]
|
| AlphaFold |
Q5NBX1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046755
|
| SMART Domains |
Protein: ENSMUSP00000045693
Gene: ENSMUSG00000020173
| 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
|
| SMART Domains |
Protein: ENSMUSP00000105277
Gene: ENSMUSG00000020173
| 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
|
| SMART Domains |
Protein: ENSMUSP00000105278
Gene: ENSMUSG00000020173
| 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
|
| SMART Domains |
Protein: ENSMUSP00000133470
Gene: ENSMUSG00000020173
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932442E05Rik |
T |
A |
10: 118,697,371 (GRCm39) |
W210R |
possibly damaging |
Het |
| Aknad1 |
T |
C |
3: 108,659,217 (GRCm39) |
M77T |
probably benign |
Het |
| Aox1 |
A |
T |
1: 58,393,469 (GRCm39) |
I1210F |
possibly damaging |
Het |
| Brd8 |
A |
T |
18: 34,747,858 (GRCm39) |
|
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,139,292 (GRCm39) |
D3307G |
probably benign |
Het |
| Chsy1 |
T |
C |
7: 65,821,058 (GRCm39) |
I431T |
probably damaging |
Het |
| Col28a1 |
T |
C |
6: 8,158,134 (GRCm39) |
D308G |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 48,048,700 (GRCm39) |
Y568H |
probably damaging |
Het |
| Dmrt3 |
T |
C |
19: 25,599,947 (GRCm39) |
I264T |
probably damaging |
Het |
| Dusp22 |
G |
T |
13: 30,880,235 (GRCm39) |
C52F |
probably damaging |
Het |
| Fbxw22 |
A |
C |
9: 109,212,993 (GRCm39) |
M318R |
probably damaging |
Het |
| Ffar4 |
C |
T |
19: 38,102,295 (GRCm39) |
T310M |
probably damaging |
Het |
| Fn1 |
A |
G |
1: 71,658,644 (GRCm39) |
V1138A |
probably damaging |
Het |
| Glt6d1 |
T |
A |
2: 25,684,505 (GRCm39) |
Y167F |
probably benign |
Het |
| Hydin |
T |
A |
8: 111,217,421 (GRCm39) |
Y1436* |
probably null |
Het |
| Il12a |
G |
A |
3: 68,598,888 (GRCm39) |
C2Y |
possibly damaging |
Het |
| Inpp5a |
T |
C |
7: 139,034,006 (GRCm39) |
Y38H |
possibly damaging |
Het |
| Jmy |
A |
C |
13: 93,596,159 (GRCm39) |
L490R |
probably damaging |
Het |
| Kif26a |
T |
A |
12: 112,143,262 (GRCm39) |
L1172H |
probably benign |
Het |
| Kmo |
A |
T |
1: 175,482,668 (GRCm39) |
M331L |
probably benign |
Het |
| Lonp1 |
G |
A |
17: 56,923,026 (GRCm39) |
T627M |
probably damaging |
Het |
| Lrrc41 |
T |
C |
4: 115,950,331 (GRCm39) |
|
probably null |
Het |
| Mast4 |
A |
T |
13: 102,874,123 (GRCm39) |
S1556R |
probably damaging |
Het |
| Mmel1 |
A |
G |
4: 154,976,408 (GRCm39) |
N490S |
probably benign |
Het |
| Mpped2 |
A |
G |
2: 106,614,158 (GRCm39) |
D164G |
probably damaging |
Het |
| Nap1l1 |
A |
G |
10: 111,328,760 (GRCm39) |
T230A |
probably benign |
Het |
| Nrap |
C |
A |
19: 56,338,741 (GRCm39) |
A913S |
probably damaging |
Het |
| Nudt16 |
G |
T |
9: 105,008,707 (GRCm39) |
Q65K |
probably benign |
Het |
| Or1e23 |
C |
A |
11: 73,407,462 (GRCm39) |
A188S |
probably benign |
Het |
| Or5ac17 |
T |
G |
16: 59,036,792 (GRCm39) |
L61F |
probably benign |
Het |
| Or5ac19 |
T |
A |
16: 59,089,213 (GRCm39) |
K272N |
probably benign |
Het |
| Or5al5 |
T |
A |
2: 85,962,012 (GRCm39) |
|
probably benign |
Het |
| Or6c76b |
T |
A |
10: 129,692,671 (GRCm39) |
C95S |
probably benign |
Het |
| Parp14 |
A |
G |
16: 35,678,970 (GRCm39) |
F333L |
probably benign |
Het |
| Pi4ka |
G |
T |
16: 17,115,124 (GRCm39) |
Q1422K |
probably benign |
Het |
| Polr3c |
T |
C |
3: 96,620,836 (GRCm39) |
E494G |
probably damaging |
Het |
| Prss42 |
C |
A |
9: 110,627,411 (GRCm39) |
P49Q |
probably benign |
Het |
| Ptpra |
C |
T |
2: 130,385,997 (GRCm39) |
T568I |
probably damaging |
Het |
| Ring1 |
T |
C |
17: 34,242,294 (GRCm39) |
D71G |
probably damaging |
Het |
| Siae |
T |
A |
9: 37,542,782 (GRCm39) |
S193T |
probably damaging |
Het |
| Slf2 |
T |
C |
19: 44,961,706 (GRCm39) |
|
probably null |
Het |
| Spinkl |
T |
A |
18: 44,307,639 (GRCm39) |
K7N |
possibly damaging |
Het |
| Tbk1 |
G |
A |
10: 121,407,888 (GRCm39) |
R82* |
probably null |
Het |
| Tcf12 |
T |
C |
9: 71,829,930 (GRCm39) |
|
probably null |
Het |
| Tcl1b5 |
G |
A |
12: 105,145,214 (GRCm39) |
M59I |
probably benign |
Het |
| Thumpd3 |
C |
A |
6: 113,043,806 (GRCm39) |
T407K |
probably damaging |
Het |
| Timm29 |
T |
C |
9: 21,505,031 (GRCm39) |
V233A |
probably damaging |
Het |
| Tns3 |
A |
G |
11: 8,469,192 (GRCm39) |
|
probably benign |
Het |
| Ubash3b |
T |
C |
9: 40,937,543 (GRCm39) |
|
probably benign |
Het |
| Ugdh |
G |
T |
5: 65,580,031 (GRCm39) |
T253K |
probably benign |
Het |
| Zfp143 |
T |
A |
7: 109,671,416 (GRCm39) |
|
probably benign |
Het |
| Zfp738 |
A |
G |
13: 67,831,563 (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 |
|
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 |
|
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 |
2014-01-21 |
Incidental Mutation