Incidental Mutation 'R5777:Cobll1'
| ID |
446739 |
| 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: 0.254)
|
| Stock # |
R5777 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
64918683-65069742 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 64933612 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 460
(M460K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108049
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090896]
[ENSMUST00000102726]
[ENSMUST00000112429]
[ENSMUST00000112430]
[ENSMUST00000112431]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090896
AA Change: M461K
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000088412
Gene: ENSMUSG00000034903
AA Change: M461K
| 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 benign
Transcript: ENSMUST00000102726
AA Change: M499K
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000099787
Gene: ENSMUSG00000034903
AA Change: M499K
| 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 benign
Transcript: ENSMUST00000112429
AA Change: M499K
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000108048
Gene: ENSMUSG00000034903
AA Change: M499K
| 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: M460K
PolyPhen 2
Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000108049
Gene: ENSMUSG00000034903
AA Change: M460K
| 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 benign
Transcript: ENSMUST00000112431
AA Change: M499K
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000108050
Gene: ENSMUSG00000034903
AA Change: M499K
| 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
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrp |
T |
C |
8: 106,294,000 (GRCm39) |
E41G |
probably benign |
Het |
| Amph |
A |
T |
13: 19,230,186 (GRCm39) |
N45Y |
probably damaging |
Het |
| Atp11a |
T |
A |
8: 12,882,522 (GRCm39) |
L470Q |
probably damaging |
Het |
| C130073F10Rik |
T |
A |
4: 101,747,946 (GRCm39) |
Y76F |
possibly damaging |
Het |
| Casp12 |
A |
T |
9: 5,354,548 (GRCm39) |
I306F |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,890,895 (GRCm39) |
L1800I |
possibly damaging |
Het |
| Ctdsp1 |
T |
C |
1: 74,433,227 (GRCm39) |
V131A |
probably damaging |
Het |
| Ctnna3 |
A |
G |
10: 64,511,664 (GRCm39) |
H618R |
probably benign |
Het |
| Dhx38 |
C |
A |
8: 110,283,534 (GRCm39) |
V538L |
possibly damaging |
Het |
| Dtwd1 |
A |
G |
2: 126,001,733 (GRCm39) |
D151G |
probably damaging |
Het |
| Fbxw28 |
A |
G |
9: 109,167,604 (GRCm39) |
L51P |
probably damaging |
Het |
| Gm4781 |
C |
T |
10: 100,232,831 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5134 |
C |
A |
10: 75,840,594 (GRCm39) |
F479L |
probably benign |
Het |
| H2bc27 |
A |
G |
11: 58,839,835 (GRCm39) |
K24E |
probably benign |
Het |
| Hexa |
T |
G |
9: 59,468,243 (GRCm39) |
V290G |
probably damaging |
Het |
| Ifi206 |
C |
T |
1: 173,308,928 (GRCm39) |
R356K |
possibly damaging |
Het |
| Kcnj12 |
G |
A |
11: 60,961,277 (GRCm39) |
R525Q |
possibly damaging |
Het |
| Lrp2 |
A |
T |
2: 69,285,869 (GRCm39) |
I3774N |
probably damaging |
Het |
| Msh4 |
C |
A |
3: 153,569,076 (GRCm39) |
M832I |
probably benign |
Het |
| Myh10 |
A |
G |
11: 68,676,685 (GRCm39) |
E852G |
probably damaging |
Het |
| Ndufaf1 |
A |
T |
2: 119,490,963 (GRCm39) |
C32* |
probably null |
Het |
| Nos2 |
A |
G |
11: 78,830,978 (GRCm39) |
E387G |
probably null |
Het |
| Or4f58 |
C |
T |
2: 111,851,876 (GRCm39) |
G108R |
probably damaging |
Het |
| Or55b10 |
A |
G |
7: 102,143,178 (GRCm39) |
V268A |
probably benign |
Het |
| Or5h27 |
T |
A |
16: 59,006,266 (GRCm39) |
L193F |
unknown |
Het |
| Or7a36 |
A |
C |
10: 78,820,512 (GRCm39) |
D296A |
possibly damaging |
Het |
| Or7g29 |
A |
T |
9: 19,287,014 (GRCm39) |
H54Q |
probably benign |
Het |
| Or8j3c |
A |
G |
2: 86,253,669 (GRCm39) |
V117A |
probably benign |
Het |
| P3h3 |
T |
C |
6: 124,832,921 (GRCm39) |
T211A |
probably benign |
Het |
| Pcdh7 |
A |
G |
5: 57,876,856 (GRCm39) |
N137S |
probably damaging |
Het |
| Pgf |
T |
C |
12: 85,216,148 (GRCm39) |
T157A |
possibly damaging |
Het |
| Prex1 |
T |
C |
2: 166,428,579 (GRCm39) |
D714G |
probably damaging |
Het |
| Scn7a |
T |
C |
2: 66,522,913 (GRCm39) |
I930M |
probably damaging |
Het |
| Siglecg |
T |
C |
7: 43,058,837 (GRCm39) |
S197P |
possibly damaging |
Het |
| Skint7 |
T |
A |
4: 111,845,289 (GRCm39) |
I367N |
probably benign |
Het |
| Slfn5 |
A |
T |
11: 82,851,830 (GRCm39) |
D652V |
probably damaging |
Het |
| Stx1b |
G |
A |
7: 127,410,090 (GRCm39) |
Q3* |
probably null |
Het |
| Tex35 |
T |
C |
1: 156,934,777 (GRCm39) |
M46V |
probably benign |
Het |
| Tkt |
A |
C |
14: 30,280,733 (GRCm39) |
T55P |
possibly damaging |
Het |
| Trim30c |
T |
C |
7: 104,032,538 (GRCm39) |
R263G |
probably benign |
Het |
| U2af2 |
G |
A |
7: 5,069,450 (GRCm39) |
R33Q |
probably benign |
Het |
| Washc4 |
T |
A |
10: 83,391,469 (GRCm39) |
V182D |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,340,348 (GRCm39) |
V863A |
possibly damaging |
Het |
| Zfp976 |
T |
G |
7: 42,263,504 (GRCm39) |
H111P |
probably benign |
Het |
| Zfp982 |
A |
T |
4: 147,595,321 (GRCm39) |
N48Y |
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 |
|
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 |
|
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'- ACATGGCCAACTATAGCTAAGC -3'
(R):5'- AGCTAGGATGCTAGATTGCTTAG -3'
Sequencing Primer
(F):5'- ATCAGTTGTCTTTCCAAGAAAAGC -3'
(R):5'- ATGCTAGATTGCTTAGGGTGAGC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation