Incidental Mutation 'R5269:Cobll1'
ID |
400025 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cobll1
|
Ensembl Gene |
ENSMUSG00000034903 |
Gene Name |
Cobl-like 1 |
Synonyms |
Coblr1, D430044D16Rik |
MMRRC Submission |
042834-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.254)
|
Stock # |
R5269 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
64918683-65069742 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 64964115 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 189
(Q189*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115065
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090896]
[ENSMUST00000102726]
[ENSMUST00000112429]
[ENSMUST00000112430]
[ENSMUST00000112431]
[ENSMUST00000155082]
[ENSMUST00000155916]
[ENSMUST00000156643]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000090896
AA Change: Q169*
|
SMART Domains |
Protein: ENSMUSP00000088412 Gene: ENSMUSG00000034903 AA Change: Q169*
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
AA Change: Q169*
|
SMART Domains |
Protein: ENSMUSP00000099787 Gene: ENSMUSG00000034903 AA Change: Q169*
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
AA Change: Q169*
|
SMART Domains |
Protein: ENSMUSP00000108048 Gene: ENSMUSG00000034903 AA Change: Q169*
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: ENSMUST00000112430
AA Change: Q168*
|
SMART Domains |
Protein: ENSMUSP00000108049 Gene: ENSMUSG00000034903 AA Change: Q168*
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
AA Change: Q169*
|
SMART Domains |
Protein: ENSMUSP00000108050 Gene: ENSMUSG00000034903 AA Change: Q169*
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: ENSMUST00000132478
|
Predicted Effect |
probably benign
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
AA Change: Q189*
|
SMART Domains |
Protein: ENSMUSP00000115065 Gene: ENSMUSG00000034903 AA Change: Q189*
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 benign
Transcript: ENSMUST00000156643
|
SMART Domains |
Protein: ENSMUSP00000114447 Gene: ENSMUSG00000034903
Domain | Start | End | E-Value | Type |
low complexity region
|
124 |
135 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.9%
|
Validation Efficiency |
100% (71/71) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
C |
17: 24,595,717 (GRCm39) |
S357P |
possibly damaging |
Het |
Adam39 |
A |
G |
8: 41,279,018 (GRCm39) |
I470V |
probably benign |
Het |
Agrn |
A |
T |
4: 156,253,447 (GRCm39) |
C1708S |
probably benign |
Het |
Agtpbp1 |
A |
G |
13: 59,621,557 (GRCm39) |
I42T |
probably damaging |
Het |
Akap6 |
T |
C |
12: 53,186,626 (GRCm39) |
C1347R |
probably damaging |
Het |
Antxr1 |
A |
G |
6: 87,157,165 (GRCm39) |
L452P |
probably damaging |
Het |
Arhgef33 |
T |
A |
17: 80,677,704 (GRCm39) |
V417D |
probably damaging |
Het |
Brca2 |
A |
G |
5: 150,462,688 (GRCm39) |
I817M |
possibly damaging |
Het |
Casp4 |
A |
T |
9: 5,321,521 (GRCm39) |
|
probably benign |
Het |
Cdh20 |
T |
C |
1: 104,861,882 (GRCm39) |
Y21H |
possibly damaging |
Het |
Cdr2 |
C |
T |
7: 120,557,557 (GRCm39) |
V323M |
possibly damaging |
Het |
Cebpa |
G |
A |
7: 34,819,283 (GRCm39) |
R147H |
probably benign |
Het |
Cetn4 |
C |
A |
3: 37,364,118 (GRCm39) |
E31* |
probably null |
Het |
Colec12 |
A |
G |
18: 9,846,825 (GRCm39) |
T74A |
possibly damaging |
Het |
Crisp4 |
A |
G |
1: 18,198,934 (GRCm39) |
S124P |
probably damaging |
Het |
Eddm3b |
T |
A |
14: 51,354,178 (GRCm39) |
D55E |
probably damaging |
Het |
Elmo1 |
C |
A |
13: 20,633,656 (GRCm39) |
N439K |
probably benign |
Het |
Fabp12 |
T |
C |
3: 10,315,167 (GRCm39) |
N60S |
probably benign |
Het |
Fat2 |
T |
A |
11: 55,178,704 (GRCm39) |
H1452L |
probably benign |
Het |
Flacc1 |
A |
G |
1: 58,730,919 (GRCm39) |
S46P |
possibly damaging |
Het |
Flrt2 |
T |
C |
12: 95,746,712 (GRCm39) |
V350A |
possibly damaging |
Het |
Ganab |
T |
C |
19: 8,889,301 (GRCm39) |
F626S |
probably damaging |
Het |
Ghr |
T |
C |
15: 3,349,561 (GRCm39) |
Y539C |
probably benign |
Het |
Gm6871 |
T |
C |
7: 41,197,525 (GRCm39) |
T112A |
probably damaging |
Het |
Gm7133 |
T |
A |
1: 97,110,848 (GRCm39) |
|
noncoding transcript |
Het |
Gon4l |
A |
C |
3: 88,802,835 (GRCm39) |
I1149L |
probably benign |
Het |
Greb1l |
G |
A |
18: 10,511,409 (GRCm39) |
D45N |
probably benign |
Het |
H2-K2 |
A |
G |
17: 34,215,989 (GRCm39) |
|
probably benign |
Het |
Herc2 |
C |
T |
7: 55,818,618 (GRCm39) |
R2770* |
probably null |
Het |
Insyn2b |
G |
A |
11: 34,352,788 (GRCm39) |
E277K |
probably damaging |
Het |
Itsn2 |
A |
G |
12: 4,683,553 (GRCm39) |
|
probably benign |
Het |
Klb |
A |
G |
5: 65,506,140 (GRCm39) |
D129G |
probably damaging |
Het |
Klf1 |
A |
G |
8: 85,629,969 (GRCm39) |
I265V |
probably benign |
Het |
Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
Map3k10 |
T |
C |
7: 27,357,957 (GRCm39) |
E607G |
probably benign |
Het |
Melk |
C |
T |
4: 44,363,730 (GRCm39) |
T592M |
probably damaging |
Het |
Mroh6 |
A |
G |
15: 75,757,639 (GRCm39) |
L457P |
probably damaging |
Het |
Mrpl21 |
T |
A |
19: 3,337,012 (GRCm39) |
C128S |
probably damaging |
Het |
Or51f23 |
T |
C |
7: 102,453,327 (GRCm39) |
V214A |
probably benign |
Het |
Paqr4 |
G |
T |
17: 23,957,187 (GRCm39) |
H105Q |
probably damaging |
Het |
Pcdhga10 |
A |
G |
18: 37,881,747 (GRCm39) |
I503V |
probably benign |
Het |
Pds5a |
T |
C |
5: 65,821,271 (GRCm39) |
N151S |
probably damaging |
Het |
Pif1 |
A |
G |
9: 65,499,111 (GRCm39) |
T444A |
possibly damaging |
Het |
Ppp2r3d |
T |
C |
9: 101,031,064 (GRCm39) |
R851G |
probably damaging |
Het |
R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
Ros1 |
T |
G |
10: 51,927,104 (GRCm39) |
Q2172P |
probably damaging |
Het |
Rpe65 |
A |
G |
3: 159,309,984 (GRCm39) |
T86A |
probably benign |
Het |
Rpl18a |
G |
A |
8: 71,348,932 (GRCm39) |
R15C |
possibly damaging |
Het |
Sh3tc2 |
A |
G |
18: 62,108,684 (GRCm39) |
K258R |
probably benign |
Het |
Ska3 |
T |
A |
14: 58,059,573 (GRCm39) |
E84V |
possibly damaging |
Het |
Slc25a40 |
T |
A |
5: 8,497,409 (GRCm39) |
|
probably null |
Het |
Slf1 |
A |
T |
13: 77,252,700 (GRCm39) |
S274T |
probably benign |
Het |
Spata21 |
A |
T |
4: 140,830,332 (GRCm39) |
Q267H |
probably damaging |
Het |
Strbp |
A |
T |
2: 37,517,455 (GRCm39) |
W207R |
possibly damaging |
Het |
Taf6l |
T |
C |
19: 8,752,326 (GRCm39) |
E454G |
probably damaging |
Het |
Tcam1 |
C |
A |
11: 106,176,353 (GRCm39) |
L360I |
probably benign |
Het |
Tnxb |
G |
A |
17: 34,922,582 (GRCm39) |
R2465H |
possibly damaging |
Het |
Trim66 |
T |
A |
7: 109,056,797 (GRCm39) |
Y1120F |
probably benign |
Het |
Trp53 |
T |
A |
11: 69,480,031 (GRCm39) |
M243K |
probably damaging |
Het |
Ttl |
T |
A |
2: 128,910,831 (GRCm39) |
C72S |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,539,240 (GRCm39) |
V34582A |
probably benign |
Het |
Uqcrh |
T |
C |
4: 115,927,101 (GRCm39) |
T31A |
possibly damaging |
Het |
Usp40 |
A |
G |
1: 87,923,504 (GRCm39) |
C256R |
probably benign |
Het |
Vmn1r168 |
A |
G |
7: 23,240,839 (GRCm39) |
E232G |
probably benign |
Het |
Wdr72 |
A |
T |
9: 74,064,653 (GRCm39) |
I562F |
probably damaging |
Het |
Wnt4 |
A |
G |
4: 137,005,061 (GRCm39) |
N24S |
probably benign |
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 |
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'- GGCATATAACTCTCTTAGTCCCAAGTC -3'
(R):5'- AACACGTAGCTCTTGGTGGC -3'
Sequencing Primer
(F):5'- CTCTCTTAGTCCCAAGTCATTAAGAG -3'
(R):5'- AGCTCTTGGTGGCATTACACAG -3'
|
Posted On |
2016-07-06 |