Incidental Mutation 'R3154:Cobll1'
ID |
263386 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cobll1
|
Ensembl Gene |
ENSMUSG00000034903 |
Gene Name |
Cobl-like 1 |
Synonyms |
Coblr1, D430044D16Rik |
MMRRC Submission |
040605-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.284)
|
Stock # |
R3154 (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 64937394 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 406
(M406K)
|
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 benign
Transcript: ENSMUST00000090896
AA Change: M406K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000088412 Gene: ENSMUSG00000034903 AA Change: M406K
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: M406K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000099787 Gene: ENSMUSG00000034903 AA Change: M406K
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: M406K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000108048 Gene: ENSMUSG00000034903 AA Change: M406K
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: M405K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000108049 Gene: ENSMUSG00000034903 AA Change: M405K
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: M406K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000108050 Gene: ENSMUSG00000034903 AA Change: M406K
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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6820408C15Rik |
A |
C |
2: 152,282,744 (GRCm39) |
N200H |
probably damaging |
Het |
Abca17 |
T |
A |
17: 24,547,720 (GRCm39) |
D218V |
probably damaging |
Het |
Ap1b1 |
T |
C |
11: 4,973,135 (GRCm39) |
V326A |
possibly damaging |
Het |
Bdp1 |
A |
T |
13: 100,186,322 (GRCm39) |
V1710E |
probably damaging |
Het |
Chrna3 |
C |
T |
9: 54,923,334 (GRCm39) |
C158Y |
probably damaging |
Het |
Cnnm3 |
T |
A |
1: 36,560,303 (GRCm39) |
S608T |
probably damaging |
Het |
Cnot1 |
T |
C |
8: 96,470,906 (GRCm39) |
E1314G |
possibly damaging |
Het |
Cyp2d34 |
T |
C |
15: 82,501,767 (GRCm39) |
K248E |
probably benign |
Het |
Dcdc2a |
A |
C |
13: 25,286,340 (GRCm39) |
I125L |
probably benign |
Het |
Dgat1 |
G |
A |
15: 76,386,721 (GRCm39) |
L439F |
probably benign |
Het |
Disc1 |
T |
A |
8: 125,862,043 (GRCm39) |
S472T |
probably damaging |
Het |
Dnajb3 |
C |
A |
1: 88,132,773 (GRCm39) |
V210F |
probably benign |
Het |
Fancd2 |
A |
G |
6: 113,570,230 (GRCm39) |
S1394G |
possibly damaging |
Het |
Fasn |
A |
T |
11: 120,698,765 (GRCm39) |
L2475Q |
probably damaging |
Het |
Fn1 |
A |
T |
1: 71,632,242 (GRCm39) |
C2335S |
probably damaging |
Het |
Gpld1 |
T |
C |
13: 25,127,603 (GRCm39) |
S2P |
unknown |
Het |
Gpld1 |
G |
T |
13: 25,140,146 (GRCm39) |
|
probably null |
Het |
Gsc2 |
G |
A |
16: 17,732,364 (GRCm39) |
R137W |
probably damaging |
Het |
Gsdme |
T |
C |
6: 50,228,343 (GRCm39) |
R42G |
probably damaging |
Het |
Gtf3c5 |
T |
C |
2: 28,469,548 (GRCm39) |
T119A |
probably damaging |
Het |
Hs6st3 |
T |
C |
14: 120,106,389 (GRCm39) |
S266P |
probably damaging |
Het |
Htr2a |
T |
C |
14: 74,943,262 (GRCm39) |
F281L |
probably benign |
Het |
Hus1b |
T |
C |
13: 31,131,236 (GRCm39) |
K141R |
probably benign |
Het |
Ireb2 |
T |
C |
9: 54,793,230 (GRCm39) |
|
probably null |
Het |
Klhdc7a |
T |
A |
4: 139,693,024 (GRCm39) |
Y641F |
probably benign |
Het |
Kri1 |
T |
C |
9: 21,193,190 (GRCm39) |
E57G |
possibly damaging |
Het |
Map4 |
A |
G |
9: 109,828,860 (GRCm39) |
T82A |
probably benign |
Het |
Mthfr |
T |
G |
4: 148,136,061 (GRCm39) |
M353R |
probably benign |
Het |
Mtus2 |
A |
G |
5: 148,240,083 (GRCm39) |
|
probably benign |
Het |
Muc5ac |
T |
A |
7: 141,346,473 (GRCm39) |
|
probably null |
Het |
Myo15a |
T |
A |
11: 60,370,186 (GRCm39) |
|
probably null |
Het |
Nynrin |
A |
T |
14: 56,101,044 (GRCm39) |
Q278L |
possibly damaging |
Het |
Pced1b |
T |
G |
15: 97,282,423 (GRCm39) |
|
probably null |
Het |
Penk |
T |
C |
4: 4,134,152 (GRCm39) |
D165G |
probably damaging |
Het |
Pfkm |
T |
A |
15: 98,016,090 (GRCm39) |
V90D |
probably damaging |
Het |
Pgk2 |
T |
A |
17: 40,519,134 (GRCm39) |
D98V |
probably damaging |
Het |
Psg28 |
C |
A |
7: 18,160,348 (GRCm39) |
A283S |
possibly damaging |
Het |
Rgl3 |
A |
G |
9: 21,892,070 (GRCm39) |
L338P |
probably damaging |
Het |
Rnf126 |
A |
T |
10: 79,597,465 (GRCm39) |
I149N |
probably damaging |
Het |
Ros1 |
T |
C |
10: 51,927,077 (GRCm39) |
H2181R |
probably benign |
Het |
Slc38a11 |
C |
T |
2: 65,160,679 (GRCm39) |
C305Y |
probably damaging |
Het |
Speg |
T |
A |
1: 75,378,186 (GRCm39) |
V798E |
probably damaging |
Het |
Spesp1 |
G |
A |
9: 62,189,376 (GRCm39) |
|
probably benign |
Het |
Styk1 |
A |
T |
6: 131,286,975 (GRCm39) |
Y84* |
probably null |
Het |
Syt2 |
T |
C |
1: 134,669,599 (GRCm39) |
L80P |
possibly damaging |
Het |
Tra2a |
C |
T |
6: 49,222,446 (GRCm39) |
|
probably benign |
Het |
Trim10 |
T |
A |
17: 37,182,580 (GRCm39) |
C149S |
probably damaging |
Het |
Vmn2r38 |
T |
C |
7: 9,097,689 (GRCm39) |
T135A |
probably benign |
Het |
Wipf1 |
A |
G |
2: 73,267,834 (GRCm39) |
V188A |
possibly damaging |
Het |
Yipf2 |
G |
A |
9: 21,501,197 (GRCm39) |
A67V |
probably benign |
Het |
Zfp759 |
A |
G |
13: 67,286,719 (GRCm39) |
E96G |
probably benign |
Het |
Zic3 |
G |
A |
X: 57,076,838 (GRCm39) |
V100M |
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 |
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 |
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'- CACTGAAAATGTGATTTCTGCCAG -3'
(R):5'- CACCGCCATTCCATGATTGAC -3'
Sequencing Primer
(F):5'- AATGTGATTTCTGCCAGTTTCTTATC -3'
(R):5'- CGCCATTCCATGATTGACTACATAGG -3'
|
Posted On |
2015-02-05 |