Incidental Mutation 'R4580:Cobll1'
ID |
343560 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cobll1
|
Ensembl Gene |
ENSMUSG00000034903 |
Gene Name |
Cobl-like 1 |
Synonyms |
Coblr1, D430044D16Rik |
MMRRC Submission |
041599-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.254)
|
Stock # |
R4580 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
64918683-65069742 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 64981417 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 90
(V90I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116196
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090896]
[ENSMUST00000102726]
[ENSMUST00000112429]
[ENSMUST00000112430]
[ENSMUST00000112431]
[ENSMUST00000155916]
[ENSMUST00000155082]
[ENSMUST00000156643]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000090896
AA Change: V58I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000088412 Gene: ENSMUSG00000034903 AA Change: V58I
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: V58I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099787 Gene: ENSMUSG00000034903 AA Change: V58I
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: V58I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000108048 Gene: ENSMUSG00000034903 AA Change: V58I
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: V57I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000108049 Gene: ENSMUSG00000034903 AA Change: V57I
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: V58I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000108050 Gene: ENSMUSG00000034903 AA Change: V58I
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 |
noncoding transcript
Transcript: ENSMUST00000132979
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155916
AA Change: V78I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000115065 Gene: ENSMUSG00000034903 AA Change: V78I
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: ENSMUST00000155082
AA Change: V90I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000116196 Gene: ENSMUSG00000034903 AA Change: V90I
Domain | Start | End | E-Value | Type |
SCOP:d1ijha1
|
2 |
74 |
3e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136537
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156643
AA Change: V35I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000114447 Gene: ENSMUSG00000034903 AA Change: V35I
Domain | Start | End | E-Value | Type |
low complexity region
|
124 |
135 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810408A11Rik |
T |
C |
11: 69,791,237 (GRCm39) |
Y114C |
probably damaging |
Het |
Abcc2 |
T |
C |
19: 43,799,558 (GRCm39) |
S556P |
probably damaging |
Het |
Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
Atp6v1g1 |
A |
G |
4: 63,468,269 (GRCm39) |
N91D |
probably benign |
Het |
BC005537 |
G |
T |
13: 24,987,394 (GRCm39) |
A11S |
probably benign |
Het |
Bltp1 |
A |
T |
3: 37,084,174 (GRCm39) |
T3864S |
probably benign |
Het |
Bub1 |
A |
C |
2: 127,671,596 (GRCm39) |
|
probably null |
Het |
Ccdc162 |
T |
C |
10: 41,437,136 (GRCm39) |
T1758A |
probably benign |
Het |
Cdh15 |
T |
C |
8: 123,591,897 (GRCm39) |
L594P |
probably damaging |
Het |
Cog2 |
T |
C |
8: 125,271,875 (GRCm39) |
V463A |
probably benign |
Het |
Cpeb4 |
T |
A |
11: 31,877,757 (GRCm39) |
|
probably null |
Het |
Creb5 |
G |
A |
6: 53,581,519 (GRCm39) |
M172I |
possibly damaging |
Het |
Cyp4a32 |
T |
C |
4: 115,460,126 (GRCm39) |
|
silent |
Het |
Dnah8 |
T |
A |
17: 30,881,026 (GRCm39) |
S588T |
probably benign |
Het |
Ecpas |
T |
C |
4: 58,840,751 (GRCm39) |
Y669C |
probably damaging |
Het |
Esd |
T |
C |
14: 74,979,517 (GRCm39) |
V120A |
possibly damaging |
Het |
Fbxo5 |
T |
C |
10: 5,755,255 (GRCm39) |
|
probably null |
Het |
Gm4922 |
T |
C |
10: 18,659,432 (GRCm39) |
D430G |
probably benign |
Het |
Golga4 |
C |
A |
9: 118,386,327 (GRCm39) |
Q1150K |
probably benign |
Het |
Grb14 |
T |
C |
2: 64,783,947 (GRCm39) |
N60S |
probably benign |
Het |
Grk4 |
A |
G |
5: 34,818,325 (GRCm39) |
N2S |
probably damaging |
Het |
Henmt1 |
T |
A |
3: 108,850,081 (GRCm39) |
S21R |
probably benign |
Het |
Ifngr2 |
A |
G |
16: 91,354,906 (GRCm39) |
K113E |
probably benign |
Het |
Ighv15-2 |
T |
A |
12: 114,528,590 (GRCm39) |
T15S |
probably benign |
Het |
Kif24 |
A |
G |
4: 41,395,287 (GRCm39) |
S529P |
probably damaging |
Het |
Large2 |
T |
C |
2: 92,200,957 (GRCm39) |
N51S |
possibly damaging |
Het |
Lmtk2 |
A |
G |
5: 144,111,599 (GRCm39) |
E773G |
possibly damaging |
Het |
Lrfn3 |
A |
T |
7: 30,059,467 (GRCm39) |
C253S |
probably damaging |
Het |
Maea |
T |
C |
5: 33,517,832 (GRCm39) |
V130A |
possibly damaging |
Het |
Marchf11 |
A |
T |
15: 26,311,189 (GRCm39) |
I222F |
probably damaging |
Het |
Mast4 |
A |
T |
13: 102,873,766 (GRCm39) |
Y1699* |
probably null |
Het |
Mavs |
G |
T |
2: 131,082,370 (GRCm39) |
A85S |
probably damaging |
Het |
Mpzl3 |
T |
A |
9: 44,979,529 (GRCm39) |
V160E |
possibly damaging |
Het |
Myh15 |
T |
C |
16: 48,885,388 (GRCm39) |
S88P |
possibly damaging |
Het |
Myl2 |
A |
T |
5: 122,244,801 (GRCm39) |
H157L |
probably benign |
Het |
Myo9b |
A |
G |
8: 71,767,779 (GRCm39) |
N284S |
probably damaging |
Het |
Nphp1 |
A |
G |
2: 127,610,089 (GRCm39) |
|
probably null |
Het |
Nrcam |
T |
C |
12: 44,609,323 (GRCm39) |
|
probably null |
Het |
Nt5c3b |
G |
T |
11: 100,323,885 (GRCm39) |
F134L |
probably damaging |
Het |
Or4c120 |
T |
A |
2: 89,001,544 (GRCm39) |
Q4L |
probably benign |
Het |
Otog |
A |
G |
7: 45,937,225 (GRCm39) |
R1645G |
possibly damaging |
Het |
Pask |
T |
C |
1: 93,249,830 (GRCm39) |
I523M |
probably benign |
Het |
Pcdhb7 |
T |
A |
18: 37,475,188 (GRCm39) |
L108Q |
probably damaging |
Het |
Pdp2 |
C |
A |
8: 105,321,576 (GRCm39) |
T475K |
probably damaging |
Het |
Pgbd1 |
G |
C |
13: 21,612,499 (GRCm39) |
P113A |
probably benign |
Het |
Plk5 |
C |
T |
10: 80,196,301 (GRCm39) |
H291Y |
possibly damaging |
Het |
Pmpca |
G |
T |
2: 26,283,347 (GRCm39) |
S382I |
probably damaging |
Het |
Prl3b1 |
A |
G |
13: 27,433,450 (GRCm39) |
T202A |
possibly damaging |
Het |
Ptgs2 |
A |
T |
1: 149,979,845 (GRCm39) |
T317S |
possibly damaging |
Het |
Ptprc |
C |
T |
1: 137,998,989 (GRCm39) |
M1020I |
probably benign |
Het |
Rhbdl3 |
T |
C |
11: 80,244,471 (GRCm39) |
Y393H |
probably damaging |
Het |
Sema3e |
T |
C |
5: 14,283,717 (GRCm39) |
L482P |
probably damaging |
Het |
Setd2 |
C |
T |
9: 110,403,311 (GRCm39) |
T1984I |
probably benign |
Het |
Slc17a1 |
T |
C |
13: 24,071,960 (GRCm39) |
Y393H |
probably damaging |
Het |
Slc9a3 |
C |
T |
13: 74,307,005 (GRCm39) |
R377* |
probably null |
Het |
Slitrk3 |
A |
G |
3: 72,958,539 (GRCm39) |
S78P |
probably damaging |
Het |
Smim35 |
G |
T |
9: 45,155,426 (GRCm39) |
|
probably null |
Het |
Specc1 |
T |
A |
11: 62,110,157 (GRCm39) |
V1054E |
probably damaging |
Het |
Tbc1d4 |
T |
C |
14: 101,696,219 (GRCm39) |
T847A |
probably benign |
Het |
Tcf7l2 |
G |
A |
19: 55,907,468 (GRCm39) |
G343R |
probably damaging |
Het |
Tex36 |
A |
C |
7: 133,189,111 (GRCm39) |
Y154D |
possibly damaging |
Het |
Topaz1 |
T |
A |
9: 122,576,580 (GRCm39) |
M57K |
probably null |
Het |
Trav6-4 |
T |
C |
14: 53,692,156 (GRCm39) |
Y85H |
probably damaging |
Het |
Trim30d |
A |
G |
7: 104,121,765 (GRCm39) |
Y327H |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,781,740 (GRCm39) |
V1056A |
probably benign |
Het |
Usp32 |
C |
A |
11: 84,949,953 (GRCm39) |
|
probably null |
Het |
Vmn1r59 |
A |
T |
7: 5,457,136 (GRCm39) |
M208K |
probably damaging |
Het |
Vmn2r25 |
T |
C |
6: 123,799,982 (GRCm39) |
T787A |
possibly damaging |
Het |
Vps39 |
A |
T |
2: 120,169,814 (GRCm39) |
I246N |
probably benign |
Het |
Xab2 |
T |
C |
8: 3,660,162 (GRCm39) |
D855G |
probably damaging |
Het |
Xpc |
A |
G |
6: 91,476,993 (GRCm39) |
S369P |
probably benign |
Het |
Ythdc2 |
T |
A |
18: 44,991,265 (GRCm39) |
C758S |
possibly damaging |
Het |
Zfp62 |
A |
G |
11: 49,107,099 (GRCm39) |
I397V |
possibly damaging |
Het |
Zscan4d |
A |
G |
7: 10,896,435 (GRCm39) |
S312P |
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 |
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'- ATAAATGACGACGTCGGTCAC -3'
(R):5'- GAGATCACAGTGCTATTTTAGGTTC -3'
Sequencing Primer
(F):5'- ACGTCGGTCACAGTGGTTTC -3'
(R):5'- TCTTTCTCTAAGGGCTAGTGATG -3'
|
Posted On |
2015-09-24 |