Incidental Mutation 'R1242:Cobll1'
| ID |
152033 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cobll1
|
| Ensembl Gene |
ENSMUSG00000034903 |
| Gene Name |
Cobl-like 1 |
| Synonyms |
Coblr1, D430044D16Rik |
| MMRRC Submission |
039309-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.254)
|
| Stock # |
R1242 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
64918683-65069742 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 64981513 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115065
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090896]
[ENSMUST00000090896]
[ENSMUST00000090896]
[ENSMUST00000102726]
[ENSMUST00000102726]
[ENSMUST00000102726]
[ENSMUST00000112429]
[ENSMUST00000112429]
[ENSMUST00000112429]
[ENSMUST00000112430]
[ENSMUST00000112431]
[ENSMUST00000112431]
[ENSMUST00000112431]
[ENSMUST00000155082]
[ENSMUST00000155082]
[ENSMUST00000155082]
[ENSMUST00000155916]
[ENSMUST00000155916]
[ENSMUST00000155916]
[ENSMUST00000156643]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000090896
|
| SMART Domains |
Protein: ENSMUSP00000088412
Gene: ENSMUSG00000034903
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
147 |
158 |
N/A |
INTRINSIC |
|
Pfam:Cobl
|
186 |
264 |
1.3e-38 |
PFAM |
|
low complexity region
|
332 |
343 |
N/A |
INTRINSIC |
|
low complexity region
|
426 |
438 |
N/A |
INTRINSIC |
|
low complexity region
|
1023 |
1034 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000090896
|
| SMART Domains |
Protein: ENSMUSP00000088412
Gene: ENSMUSG00000034903
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
147 |
158 |
N/A |
INTRINSIC |
|
Pfam:Cobl
|
186 |
264 |
1.3e-38 |
PFAM |
|
low complexity region
|
332 |
343 |
N/A |
INTRINSIC |
|
low complexity region
|
426 |
438 |
N/A |
INTRINSIC |
|
low complexity region
|
1023 |
1034 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000090896
|
| SMART Domains |
Protein: ENSMUSP00000088412
Gene: ENSMUSG00000034903
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
147 |
158 |
N/A |
INTRINSIC |
|
Pfam:Cobl
|
186 |
264 |
1.3e-38 |
PFAM |
|
low complexity region
|
332 |
343 |
N/A |
INTRINSIC |
|
low complexity region
|
426 |
438 |
N/A |
INTRINSIC |
|
low complexity region
|
1023 |
1034 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000102726
|
| SMART Domains |
Protein: ENSMUSP00000099787
Gene: ENSMUSG00000034903
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
147 |
158 |
N/A |
INTRINSIC |
|
Pfam:Cobl
|
186 |
264 |
5.6e-39 |
PFAM |
|
low complexity region
|
332 |
343 |
N/A |
INTRINSIC |
|
low complexity region
|
464 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
1060 |
1071 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000102726
|
| SMART Domains |
Protein: ENSMUSP00000099787
Gene: ENSMUSG00000034903
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
147 |
158 |
N/A |
INTRINSIC |
|
Pfam:Cobl
|
186 |
264 |
5.6e-39 |
PFAM |
|
low complexity region
|
332 |
343 |
N/A |
INTRINSIC |
|
low complexity region
|
464 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
1060 |
1071 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000102726
|
| SMART Domains |
Protein: ENSMUSP00000099787
Gene: ENSMUSG00000034903
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
147 |
158 |
N/A |
INTRINSIC |
|
Pfam:Cobl
|
186 |
264 |
5.6e-39 |
PFAM |
|
low complexity region
|
332 |
343 |
N/A |
INTRINSIC |
|
low complexity region
|
464 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
1060 |
1071 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000112429
|
| SMART Domains |
Protein: ENSMUSP00000108048
Gene: ENSMUSG00000034903
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cobl
|
148 |
239 |
5.4e-49 |
PFAM |
|
low complexity region
|
332 |
343 |
N/A |
INTRINSIC |
|
low complexity region
|
464 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
1061 |
1072 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000112429
|
| SMART Domains |
Protein: ENSMUSP00000108048
Gene: ENSMUSG00000034903
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cobl
|
148 |
239 |
5.4e-49 |
PFAM |
|
low complexity region
|
332 |
343 |
N/A |
INTRINSIC |
|
low complexity region
|
464 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
1061 |
1072 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000112429
|
| SMART Domains |
Protein: ENSMUSP00000108048
Gene: ENSMUSG00000034903
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cobl
|
148 |
239 |
5.4e-49 |
PFAM |
|
low complexity region
|
332 |
343 |
N/A |
INTRINSIC |
|
low complexity region
|
464 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
1061 |
1072 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112430
|
| SMART Domains |
Protein: ENSMUSP00000108049
Gene: ENSMUSG00000034903
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
146 |
157 |
N/A |
INTRINSIC |
|
Pfam:Cobl
|
185 |
263 |
1.3e-38 |
PFAM |
|
low complexity region
|
331 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
425 |
437 |
N/A |
INTRINSIC |
|
low complexity region
|
1022 |
1033 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000112431
|
| SMART Domains |
Protein: ENSMUSP00000108050
Gene: ENSMUSG00000034903
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
147 |
158 |
N/A |
INTRINSIC |
|
Pfam:Cobl
|
186 |
264 |
5.6e-39 |
PFAM |
|
low complexity region
|
332 |
343 |
N/A |
INTRINSIC |
|
low complexity region
|
464 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
1061 |
1072 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000112431
|
| SMART Domains |
Protein: ENSMUSP00000108050
Gene: ENSMUSG00000034903
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
147 |
158 |
N/A |
INTRINSIC |
|
Pfam:Cobl
|
186 |
264 |
5.6e-39 |
PFAM |
|
low complexity region
|
332 |
343 |
N/A |
INTRINSIC |
|
low complexity region
|
464 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
1061 |
1072 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000112431
|
| SMART Domains |
Protein: ENSMUSP00000108050
Gene: ENSMUSG00000034903
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
147 |
158 |
N/A |
INTRINSIC |
|
Pfam:Cobl
|
186 |
264 |
5.6e-39 |
PFAM |
|
low complexity region
|
332 |
343 |
N/A |
INTRINSIC |
|
low complexity region
|
464 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
1061 |
1072 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124769
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132478
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000155082
|
| SMART Domains |
Protein: ENSMUSP00000116196
Gene: ENSMUSG00000034903
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ijha1
|
2 |
74 |
3e-3 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000155082
|
| SMART Domains |
Protein: ENSMUSP00000116196
Gene: ENSMUSG00000034903
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ijha1
|
2 |
74 |
3e-3 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000155082
|
| SMART Domains |
Protein: ENSMUSP00000116196
Gene: ENSMUSG00000034903
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ijha1
|
2 |
74 |
3e-3 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000155916
|
| SMART Domains |
Protein: ENSMUSP00000115065
Gene: ENSMUSG00000034903
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
167 |
178 |
N/A |
INTRINSIC |
|
Pfam:Cobl
|
206 |
297 |
2.4e-37 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000155916
|
| SMART Domains |
Protein: ENSMUSP00000115065
Gene: ENSMUSG00000034903
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
167 |
178 |
N/A |
INTRINSIC |
|
Pfam:Cobl
|
206 |
297 |
2.4e-37 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000155916
|
| SMART Domains |
Protein: ENSMUSP00000115065
Gene: ENSMUSG00000034903
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
167 |
178 |
N/A |
INTRINSIC |
|
Pfam:Cobl
|
206 |
297 |
2.4e-37 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132979
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156643
|
| SMART Domains |
Protein: ENSMUSP00000114447
Gene: ENSMUSG00000034903
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
124 |
135 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136537
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bbs7 |
A |
G |
3: 36,632,576 (GRCm39) |
F549L |
probably damaging |
Het |
| Cmc2 |
T |
C |
8: 117,637,937 (GRCm39) |
D4G |
probably damaging |
Het |
| Cnr2 |
T |
A |
4: 135,644,294 (GRCm39) |
L124Q |
probably damaging |
Het |
| Defb30 |
A |
T |
14: 63,273,455 (GRCm39) |
Y53N |
probably damaging |
Het |
| Dtnb |
T |
A |
12: 3,782,627 (GRCm39) |
Y363* |
probably null |
Het |
| Fam170a |
A |
G |
18: 50,415,206 (GRCm39) |
E284G |
probably damaging |
Het |
| Gm16505 |
T |
A |
13: 3,411,109 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf2h1 |
T |
C |
7: 46,462,175 (GRCm39) |
|
probably null |
Het |
| Gucy1a1 |
C |
T |
3: 82,013,260 (GRCm39) |
|
probably null |
Het |
| Hfm1 |
T |
A |
5: 107,022,767 (GRCm39) |
N945I |
probably damaging |
Het |
| Hpse2 |
G |
A |
19: 42,955,416 (GRCm39) |
T327I |
probably benign |
Het |
| Il3 |
T |
C |
11: 54,157,929 (GRCm39) |
I50V |
probably benign |
Het |
| Mgat5b |
A |
G |
11: 116,869,230 (GRCm39) |
K591R |
probably benign |
Het |
| Nup214 |
C |
T |
2: 31,867,782 (GRCm39) |
T83I |
probably benign |
Het |
| Or2v2 |
A |
T |
11: 49,003,728 (GRCm39) |
V275E |
possibly damaging |
Het |
| Rp1 |
T |
A |
1: 4,415,185 (GRCm39) |
I1976F |
probably benign |
Het |
| Sardh |
T |
A |
2: 27,125,575 (GRCm39) |
D313V |
probably damaging |
Het |
| Tent5c |
A |
T |
3: 100,380,192 (GRCm39) |
L188Q |
probably damaging |
Het |
| Vmn1r173 |
C |
T |
7: 23,402,650 (GRCm39) |
P295L |
probably damaging |
Het |
| Vmn1r38 |
A |
C |
6: 66,753,344 (GRCm39) |
Y257* |
probably null |
Het |
| Xkr4 |
T |
A |
1: 3,286,360 (GRCm39) |
D610V |
probably damaging |
Het |
|
| Other mutations in Cobll1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00789:Cobll1
|
APN |
2 |
64,956,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01074:Cobll1
|
APN |
2 |
64,938,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01093:Cobll1
|
APN |
2 |
64,928,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02411:Cobll1
|
APN |
2 |
64,928,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02419:Cobll1
|
APN |
2 |
64,981,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02550:Cobll1
|
APN |
2 |
64,938,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02607:Cobll1
|
APN |
2 |
64,981,429 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02829:Cobll1
|
APN |
2 |
64,956,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02802:Cobll1
|
UTSW |
2 |
64,928,663 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0313:Cobll1
|
UTSW |
2 |
64,926,088 (GRCm39) |
nonsense |
probably null |
|
|
R0314:Cobll1
|
UTSW |
2 |
64,919,865 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0322:Cobll1
|
UTSW |
2 |
64,932,442 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0846:Cobll1
|
UTSW |
2 |
64,932,409 (GRCm39) |
splice site |
probably null |
|
|
R1163:Cobll1
|
UTSW |
2 |
64,928,623 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1364:Cobll1
|
UTSW |
2 |
64,956,654 (GRCm39) |
splice site |
probably benign |
|
|
R1445:Cobll1
|
UTSW |
2 |
64,929,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1610:Cobll1
|
UTSW |
2 |
64,963,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1836:Cobll1
|
UTSW |
2 |
64,956,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2102:Cobll1
|
UTSW |
2 |
64,928,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3154:Cobll1
|
UTSW |
2 |
64,937,394 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4580:Cobll1
|
UTSW |
2 |
64,981,417 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4638:Cobll1
|
UTSW |
2 |
64,929,581 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4684:Cobll1
|
UTSW |
2 |
64,929,372 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4906:Cobll1
|
UTSW |
2 |
64,928,037 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4923:Cobll1
|
UTSW |
2 |
64,929,602 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5100:Cobll1
|
UTSW |
2 |
64,956,245 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5269:Cobll1
|
UTSW |
2 |
64,964,115 (GRCm39) |
nonsense |
probably null |
|
|
R5419:Cobll1
|
UTSW |
2 |
64,933,701 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R5637:Cobll1
|
UTSW |
2 |
64,956,247 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5745:Cobll1
|
UTSW |
2 |
64,928,801 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5777:Cobll1
|
UTSW |
2 |
64,933,612 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6303:Cobll1
|
UTSW |
2 |
64,928,377 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6471:Cobll1
|
UTSW |
2 |
64,938,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7027:Cobll1
|
UTSW |
2 |
64,919,847 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7132:Cobll1
|
UTSW |
2 |
64,964,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7197:Cobll1
|
UTSW |
2 |
64,928,882 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7365:Cobll1
|
UTSW |
2 |
64,928,717 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7607:Cobll1
|
UTSW |
2 |
64,926,201 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7899:Cobll1
|
UTSW |
2 |
64,956,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7996:Cobll1
|
UTSW |
2 |
64,981,329 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8175:Cobll1
|
UTSW |
2 |
64,929,575 (GRCm39) |
missense |
probably benign |
|
|
R8212:Cobll1
|
UTSW |
2 |
64,932,424 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8549:Cobll1
|
UTSW |
2 |
64,928,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8832:Cobll1
|
UTSW |
2 |
64,929,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9189:Cobll1
|
UTSW |
2 |
64,981,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9253:Cobll1
|
UTSW |
2 |
64,981,503 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9273:Cobll1
|
UTSW |
2 |
64,929,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9309:Cobll1
|
UTSW |
2 |
64,956,271 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9332:Cobll1
|
UTSW |
2 |
64,933,516 (GRCm39) |
missense |
probably benign |
|
|
R9469:Cobll1
|
UTSW |
2 |
64,966,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0020:Cobll1
|
UTSW |
2 |
64,933,666 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCGGCAGGACCACTGAGA -3'
(R):5'- AGTCAAGGCTccacaaatgagtgaaaa -3'
Sequencing Primer
(F):5'- GAAGAGACATCAGTGCCCTT -3'
(R):5'- cagtgaagagcggagagg -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation