Incidental Mutation 'R7132:Cobll1'
| ID |
552724 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cobll1
|
| Ensembl Gene |
ENSMUSG00000034903 |
| Gene Name |
Cobl-like 1 |
| Synonyms |
Coblr1, D430044D16Rik |
| MMRRC Submission |
045217-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.254)
|
| Stock # |
R7132 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
64918683-65069742 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 64964112 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamine
at position 170
(K170Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088412
(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 damaging
Transcript: ENSMUST00000090896
AA Change: K170Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000088412
Gene: ENSMUSG00000034903
AA Change: K170Q
| 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: K170Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099787
Gene: ENSMUSG00000034903
AA Change: K170Q
| 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: K170Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108048
Gene: ENSMUSG00000034903
AA Change: K170Q
| 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 damaging
Transcript: ENSMUST00000112430
AA Change: K169Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108049
Gene: ENSMUSG00000034903
AA Change: K169Q
| 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: K170Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108050
Gene: ENSMUSG00000034903
AA Change: K170Q
| 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 |
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 damaging
Transcript: ENSMUST00000155916
AA Change: K190Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115065
Gene: ENSMUSG00000034903
AA Change: K190Q
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
C |
T |
10: 69,825,744 (GRCm39) |
A1471V |
|
Het |
| Ankrd12 |
C |
A |
17: 66,290,242 (GRCm39) |
M1730I |
probably benign |
Het |
| Ap2a2 |
T |
C |
7: 141,199,478 (GRCm39) |
Y462H |
probably benign |
Het |
| Ap5b1 |
T |
A |
19: 5,619,412 (GRCm39) |
Y277* |
probably null |
Het |
| App |
T |
C |
16: 84,853,370 (GRCm39) |
D236G |
unknown |
Het |
| Arid2 |
A |
T |
15: 96,247,894 (GRCm39) |
K102I |
possibly damaging |
Het |
| Asl |
A |
G |
5: 130,043,543 (GRCm39) |
V211A |
possibly damaging |
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Cbx2 |
A |
G |
11: 118,913,947 (GRCm39) |
S5G |
probably benign |
Het |
| Ccdc183 |
A |
G |
2: 25,506,542 (GRCm39) |
|
probably null |
Het |
| Cd72 |
T |
C |
4: 43,452,444 (GRCm39) |
Q183R |
possibly damaging |
Het |
| Cdh26 |
T |
A |
2: 178,128,555 (GRCm39) |
D702E |
possibly damaging |
Het |
| Cfap61 |
A |
T |
2: 145,951,870 (GRCm39) |
N784I |
probably damaging |
Het |
| Cgrrf1 |
G |
A |
14: 47,091,321 (GRCm39) |
V282M |
probably damaging |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Copg2 |
A |
T |
6: 30,792,931 (GRCm39) |
V468D |
probably benign |
Het |
| Cracr2b |
C |
T |
7: 141,043,651 (GRCm39) |
A84V |
probably benign |
Het |
| Cyp2f2 |
A |
T |
7: 26,831,993 (GRCm39) |
D416V |
probably benign |
Het |
| Dcaf10 |
T |
C |
4: 45,342,391 (GRCm39) |
F75S |
probably benign |
Het |
| Eml3 |
G |
T |
19: 8,918,392 (GRCm39) |
A829S |
probably benign |
Het |
| Entpd3 |
A |
G |
9: 120,390,086 (GRCm39) |
T402A |
probably benign |
Het |
| Fer1l4 |
A |
T |
2: 155,887,546 (GRCm39) |
V550E |
probably damaging |
Het |
| Fgb |
G |
A |
3: 82,954,053 (GRCm39) |
R62* |
probably null |
Het |
| Fubp1 |
T |
A |
3: 151,937,661 (GRCm39) |
|
probably null |
Het |
| Gdf3 |
A |
C |
6: 122,583,283 (GRCm39) |
D361E |
probably damaging |
Het |
| Gm6685 |
A |
T |
11: 28,289,330 (GRCm39) |
I162N |
probably damaging |
Het |
| Hmx2 |
A |
G |
7: 131,157,645 (GRCm39) |
Y253C |
probably damaging |
Het |
| Ints2 |
G |
T |
11: 86,108,580 (GRCm39) |
N922K |
probably benign |
Het |
| Ipo7 |
C |
T |
7: 109,653,254 (GRCm39) |
L984F |
probably benign |
Het |
| Itgae |
A |
T |
11: 73,002,184 (GRCm39) |
Y96F |
possibly damaging |
Het |
| Kalrn |
A |
G |
16: 34,076,597 (GRCm39) |
V697A |
unknown |
Het |
| Kctd18 |
G |
A |
1: 58,006,737 (GRCm39) |
R38* |
probably null |
Het |
| Kdm5b |
A |
G |
1: 134,526,844 (GRCm39) |
D322G |
probably damaging |
Het |
| Ldb3 |
A |
G |
14: 34,298,992 (GRCm39) |
Y211H |
probably benign |
Het |
| Limch1 |
T |
C |
5: 67,111,028 (GRCm39) |
F85S |
probably damaging |
Het |
| Lrrn4 |
A |
T |
2: 132,721,613 (GRCm39) |
L68* |
probably null |
Het |
| Lrwd1 |
A |
G |
5: 136,152,129 (GRCm39) |
V616A |
possibly damaging |
Het |
| Nars1 |
A |
G |
18: 64,640,841 (GRCm39) |
|
probably null |
Het |
| Nradd |
T |
C |
9: 110,451,329 (GRCm39) |
D13G |
probably benign |
Het |
| Oacyl |
A |
T |
18: 65,831,480 (GRCm39) |
N39I |
probably damaging |
Het |
| Onecut2 |
A |
T |
18: 64,473,983 (GRCm39) |
H178L |
possibly damaging |
Het |
| Or9i14 |
T |
A |
19: 13,792,786 (GRCm39) |
Q56L |
probably benign |
Het |
| Pcdhga4 |
A |
C |
18: 37,820,430 (GRCm39) |
T660P |
probably damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Pitpnm3 |
T |
A |
11: 71,942,102 (GRCm39) |
I902F |
possibly damaging |
Het |
| Plod3 |
T |
C |
5: 137,023,971 (GRCm39) |
L180S |
|
Het |
| Prrc2c |
A |
T |
1: 162,508,850 (GRCm39) |
H2354Q |
possibly damaging |
Het |
| Pth2r |
A |
G |
1: 65,361,225 (GRCm39) |
E58G |
probably benign |
Het |
| Rev1 |
G |
T |
1: 38,110,530 (GRCm39) |
D573E |
possibly damaging |
Het |
| Sec24a |
A |
T |
11: 51,605,963 (GRCm39) |
L696* |
probably null |
Het |
| Serpinb3c |
A |
G |
1: 107,204,681 (GRCm39) |
S22P |
probably damaging |
Het |
| St18 |
A |
T |
1: 6,929,351 (GRCm39) |
H81L |
|
Het |
| Stard9 |
A |
T |
2: 120,509,859 (GRCm39) |
K266* |
probably null |
Het |
| Stip1 |
C |
T |
19: 6,999,178 (GRCm39) |
G467S |
possibly damaging |
Het |
| Syne1 |
G |
A |
10: 5,193,180 (GRCm39) |
A3956V |
probably damaging |
Het |
| Tcp10a |
C |
T |
17: 7,612,351 (GRCm39) |
T381I |
probably benign |
Het |
| Tecpr2 |
T |
A |
12: 110,881,806 (GRCm39) |
V125D |
probably damaging |
Het |
| Tmc2 |
T |
C |
2: 130,074,329 (GRCm39) |
S341P |
possibly damaging |
Het |
| Tmem190 |
G |
A |
7: 4,787,224 (GRCm39) |
V143I |
probably benign |
Het |
| Trap1 |
A |
G |
16: 3,873,693 (GRCm39) |
Y288H |
probably benign |
Het |
| Trim39 |
T |
C |
17: 36,571,547 (GRCm39) |
T404A |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,576,043 (GRCm39) |
K24950I |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,774,696 (GRCm39) |
N2161K |
unknown |
Het |
| Unc13b |
T |
C |
4: 43,215,757 (GRCm39) |
S19P |
probably benign |
Het |
| Uqcrc1 |
T |
A |
9: 108,778,536 (GRCm39) |
I471N |
probably damaging |
Het |
| Wbp11 |
T |
C |
6: 136,798,540 (GRCm39) |
T170A |
probably benign |
Het |
| Wnk4 |
A |
G |
11: 101,152,026 (GRCm39) |
I177V |
probably benign |
Het |
| Zfp455 |
C |
A |
13: 67,347,230 (GRCm39) |
P51T |
probably damaging |
Het |
| Zfp946 |
T |
C |
17: 22,673,644 (GRCm39) |
Y133H |
probably benign |
Het |
| Zfp955a |
A |
T |
17: 33,460,589 (GRCm39) |
Y514* |
probably null |
Het |
| Zzef1 |
T |
C |
11: 72,808,697 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- CCATGGCATATAACTCTCTTAGTCC -3'
(R):5'- GCTCTTGGTGGCATTACACAG -3'
Sequencing Primer
(F):5'- CTCTCTTAGTCCCAAGTCATTAAGAG -3'
(R):5'- ACTTAGCAACCTGTGGGTGAG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation