Incidental Mutation 'IGL02802:Cobll1'
| ID |
392066 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cobll1
|
| Ensembl Gene |
ENSMUSG00000034903 |
| Gene Name |
Cobl-like 1 |
| Synonyms |
Coblr1, D430044D16Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.284)
|
| Stock # |
IGL02802 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
64918683-65069742 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 64928663 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 888
(S888T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088412
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090896]
[ENSMUST00000102726]
[ENSMUST00000112429]
[ENSMUST00000112430]
[ENSMUST00000112431]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090896
AA Change: S888T
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000088412
Gene: ENSMUSG00000034903
AA Change: S888T
| 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 damaging
Transcript: ENSMUST00000102726
AA Change: S925T
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099787
Gene: ENSMUSG00000034903
AA Change: S925T
| 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 damaging
Transcript: ENSMUST00000112429
AA Change: S926T
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108048
Gene: ENSMUSG00000034903
AA Change: S926T
| 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
AA Change: S887T
PolyPhen 2
Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000108049
Gene: ENSMUSG00000034903
AA Change: S887T
| 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 damaging
Transcript: ENSMUST00000112431
AA Change: S926T
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108050
Gene: ENSMUSG00000034903
AA Change: S926T
| 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: ENSMUST00000155768
|
| Meta Mutation Damage Score |
0.1058 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
100% (63/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
A |
C |
1: 130,671,130 (GRCm39) |
T451P |
probably benign |
Het |
| Actbl2 |
A |
G |
13: 111,392,310 (GRCm39) |
E215G |
probably damaging |
Het |
| Adh6b |
A |
G |
3: 138,058,545 (GRCm39) |
T198A |
possibly damaging |
Het |
| Bicd2 |
A |
G |
13: 49,531,804 (GRCm39) |
K349E |
probably damaging |
Het |
| Bsnd |
T |
A |
4: 106,349,231 (GRCm39) |
D3V |
probably damaging |
Het |
| Cd83 |
T |
A |
13: 43,953,147 (GRCm39) |
L142Q |
probably null |
Het |
| Cdh20 |
A |
G |
1: 110,065,655 (GRCm39) |
E643G |
probably damaging |
Het |
| Ces1b |
T |
G |
8: 93,783,594 (GRCm39) |
E542A |
possibly damaging |
Het |
| Cfhr2 |
A |
G |
1: 139,738,762 (GRCm39) |
|
probably benign |
Het |
| Clip1 |
T |
C |
5: 123,769,186 (GRCm39) |
D471G |
probably damaging |
Het |
| Cntn5 |
C |
A |
9: 10,048,683 (GRCm39) |
|
probably null |
Het |
| Cntnap2 |
A |
T |
6: 46,147,179 (GRCm39) |
D475V |
probably damaging |
Het |
| Cntnap5c |
T |
C |
17: 58,612,679 (GRCm39) |
F906S |
probably benign |
Het |
| Csf2rb |
G |
A |
15: 78,223,103 (GRCm39) |
R105Q |
probably benign |
Het |
| Ctnnd1 |
C |
A |
2: 84,454,806 (GRCm39) |
M1I |
probably null |
Het |
| Cxxc1 |
C |
T |
18: 74,352,481 (GRCm39) |
Q354* |
probably null |
Het |
| Dnhd1 |
A |
G |
7: 105,304,930 (GRCm39) |
D324G |
possibly damaging |
Het |
| Donson |
T |
C |
16: 91,478,196 (GRCm39) |
D435G |
possibly damaging |
Het |
| Ephb1 |
T |
C |
9: 101,887,218 (GRCm39) |
K474E |
possibly damaging |
Het |
| Erbin |
A |
G |
13: 104,004,638 (GRCm39) |
L130P |
probably damaging |
Het |
| Fam221a |
C |
T |
6: 49,355,411 (GRCm39) |
T171I |
probably damaging |
Het |
| Farp2 |
A |
G |
1: 93,456,332 (GRCm39) |
E5G |
probably damaging |
Het |
| Fblim1 |
A |
G |
4: 141,317,431 (GRCm39) |
S85P |
possibly damaging |
Het |
| Fhl2 |
A |
T |
1: 43,162,761 (GRCm39) |
C251* |
probably null |
Het |
| Glis2 |
T |
C |
16: 4,429,735 (GRCm39) |
|
probably null |
Het |
| Gm10715 |
A |
C |
9: 3,038,062 (GRCm39) |
|
probably benign |
Het |
| Gm10717 |
C |
T |
9: 3,031,999 (GRCm39) |
P127S |
probably benign |
Het |
| Heatr6 |
T |
C |
11: 83,651,762 (GRCm39) |
L246P |
probably damaging |
Het |
| Igkv5-39 |
G |
A |
6: 69,877,457 (GRCm39) |
P100S |
probably benign |
Het |
| Jup |
T |
C |
11: 100,269,204 (GRCm39) |
D403G |
probably benign |
Het |
| Kank1 |
T |
C |
19: 25,388,963 (GRCm39) |
Y879H |
probably damaging |
Het |
| Kcna3 |
G |
A |
3: 106,944,369 (GRCm39) |
E211K |
probably damaging |
Het |
| Klc3 |
A |
T |
7: 19,129,049 (GRCm39) |
I440N |
possibly damaging |
Het |
| Mmp1b |
T |
C |
9: 7,384,709 (GRCm39) |
T280A |
probably benign |
Het |
| Nat3 |
A |
T |
8: 68,000,160 (GRCm39) |
Q13L |
probably benign |
Het |
| Nckap1l |
A |
G |
15: 103,372,963 (GRCm39) |
N272S |
probably benign |
Het |
| Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
| Nsd3 |
T |
C |
8: 26,130,922 (GRCm39) |
S96P |
probably damaging |
Het |
| Ntaq1 |
A |
G |
15: 58,011,833 (GRCm39) |
S65G |
probably benign |
Het |
| Nudt16l1 |
C |
T |
16: 4,757,131 (GRCm39) |
R43C |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,891,310 (GRCm39) |
Q7074L |
unknown |
Het |
| Or4p20 |
A |
G |
2: 88,253,832 (GRCm39) |
V179A |
probably benign |
Het |
| Or5m12 |
A |
G |
2: 85,734,733 (GRCm39) |
S222P |
probably damaging |
Het |
| Or5p78 |
A |
T |
7: 108,211,669 (GRCm39) |
I52F |
probably damaging |
Het |
| Or6c206 |
T |
A |
10: 129,097,136 (GRCm39) |
|
probably null |
Het |
| Or8b37 |
T |
G |
9: 37,959,345 (GRCm39) |
Y276D |
probably damaging |
Het |
| Or8k30 |
T |
A |
2: 86,339,290 (GRCm39) |
N162K |
probably benign |
Het |
| P4htm |
C |
T |
9: 108,460,055 (GRCm39) |
D240N |
probably benign |
Het |
| Plekhm2 |
A |
T |
4: 141,369,835 (GRCm39) |
|
probably benign |
Het |
| Plppr5 |
T |
C |
3: 117,456,228 (GRCm39) |
S250P |
probably damaging |
Het |
| Pmis2 |
T |
C |
7: 30,370,919 (GRCm39) |
K12E |
probably benign |
Het |
| Ppox |
A |
T |
1: 171,105,066 (GRCm39) |
L374* |
probably null |
Het |
| Rcc1 |
C |
T |
4: 132,065,067 (GRCm39) |
R139H |
probably benign |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Tdo2 |
A |
G |
3: 81,883,004 (GRCm39) |
|
probably benign |
Het |
| Tent2 |
A |
T |
13: 93,285,449 (GRCm39) |
N436K |
probably damaging |
Het |
| Thbs2 |
A |
G |
17: 14,904,389 (GRCm39) |
I326T |
probably benign |
Het |
| Thrap3 |
T |
C |
4: 126,059,157 (GRCm39) |
|
probably benign |
Het |
| Ttc6 |
A |
T |
12: 57,622,654 (GRCm39) |
M18L |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,604,924 (GRCm39) |
V18337I |
probably damaging |
Het |
| Txndc2 |
A |
G |
17: 65,946,601 (GRCm39) |
S34P |
possibly damaging |
Het |
| Vps72 |
T |
A |
3: 95,026,545 (GRCm39) |
C163* |
probably null |
Het |
| Zfp831 |
T |
A |
2: 174,486,945 (GRCm39) |
I540N |
possibly 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 |
|
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 |
|
R1242:Cobll1
|
UTSW |
2 |
64,981,513 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
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'- CGGCAGGCTTCTGAATTATATC -3'
(R):5'- GAGCGTCATTTGCACAGGAC -3'
Sequencing Primer
(F):5'- CATCATCAGCTTTTGAAATATTGGGC -3'
(R):5'- AGGACTTTGAGCTCACCAACTGG -3'
|
| Posted On |
2016-06-09 |
Incidental Mutation