Incidental Mutation 'IGL02550:Cobll1'
| ID |
298045 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cobll1
|
| Ensembl Gene |
ENSMUSG00000034903 |
| Gene Name |
Cobl-like 1 |
| Synonyms |
Coblr1, D430044D16Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.284)
|
| Stock # |
IGL02550
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
64918683-65069742 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64938207 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 359
(S359P)
|
| 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 damaging
Transcript: ENSMUST00000090896
AA Change: S359P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000088412
Gene: ENSMUSG00000034903
AA Change: S359P
| 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: S359P
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000099787
Gene: ENSMUSG00000034903
AA Change: S359P
| 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: S359P
PolyPhen 2
Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000108048
Gene: ENSMUSG00000034903
AA Change: S359P
| 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: S358P
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000108049
Gene: ENSMUSG00000034903
AA Change: S358P
| 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: S359P
PolyPhen 2
Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000108050
Gene: ENSMUSG00000034903
AA Change: S359P
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadl |
A |
G |
1: 66,884,325 (GRCm39) |
|
probably null |
Het |
| Acer3 |
G |
A |
7: 97,873,185 (GRCm39) |
T171I |
probably benign |
Het |
| Acsm2 |
C |
T |
7: 119,172,507 (GRCm39) |
P117S |
probably damaging |
Het |
| Anxa2 |
A |
G |
9: 69,374,588 (GRCm39) |
S22G |
probably benign |
Het |
| Arrb2 |
T |
C |
11: 70,327,696 (GRCm39) |
I120T |
probably damaging |
Het |
| Atp11a |
G |
T |
8: 12,866,997 (GRCm39) |
K141N |
possibly damaging |
Het |
| Casd1 |
T |
C |
6: 4,642,009 (GRCm39) |
V762A |
probably benign |
Het |
| Ccdc61 |
A |
T |
7: 18,627,227 (GRCm39) |
S48T |
probably benign |
Het |
| Cntn2 |
T |
C |
1: 132,456,801 (GRCm39) |
M82V |
probably null |
Het |
| Ctnnbl1 |
C |
A |
2: 157,726,055 (GRCm39) |
D465E |
probably benign |
Het |
| Def6 |
A |
T |
17: 28,447,235 (GRCm39) |
E622V |
probably benign |
Het |
| Dmgdh |
T |
C |
13: 93,854,083 (GRCm39) |
Y678H |
probably damaging |
Het |
| Dock9 |
A |
T |
14: 121,935,724 (GRCm39) |
M1K |
probably null |
Het |
| Esyt1 |
T |
C |
10: 128,357,962 (GRCm39) |
K216E |
probably damaging |
Het |
| Fhod3 |
A |
G |
18: 25,156,017 (GRCm39) |
D545G |
probably benign |
Het |
| Galnt12 |
A |
T |
4: 47,104,126 (GRCm39) |
D128V |
possibly damaging |
Het |
| Gm1110 |
C |
T |
9: 26,793,130 (GRCm39) |
V549I |
probably benign |
Het |
| Gm7361 |
A |
G |
5: 26,466,120 (GRCm39) |
I161V |
possibly damaging |
Het |
| Gsn |
T |
C |
2: 35,172,619 (GRCm39) |
|
probably benign |
Het |
| Gvin3 |
A |
T |
7: 106,200,846 (GRCm39) |
|
noncoding transcript |
Het |
| Il16 |
T |
A |
7: 83,323,704 (GRCm39) |
Q282L |
possibly damaging |
Het |
| Il3ra |
A |
G |
14: 14,348,055 (GRCm38) |
D67G |
probably benign |
Het |
| Insrr |
T |
C |
3: 87,711,805 (GRCm39) |
L515P |
probably damaging |
Het |
| Jhy |
A |
G |
9: 40,828,466 (GRCm39) |
F480S |
probably benign |
Het |
| Klc4 |
C |
A |
17: 46,947,836 (GRCm39) |
|
probably null |
Het |
| Klhl12 |
G |
T |
1: 134,395,443 (GRCm39) |
C135F |
possibly damaging |
Het |
| Ly6m |
T |
G |
15: 74,752,604 (GRCm39) |
H24P |
probably damaging |
Het |
| Mboat7 |
G |
T |
7: 3,686,905 (GRCm39) |
|
probably null |
Het |
| Myo1f |
G |
A |
17: 33,807,116 (GRCm39) |
D522N |
probably damaging |
Het |
| Myo1f |
A |
G |
17: 33,799,124 (GRCm39) |
|
probably benign |
Het |
| Nbea |
C |
A |
3: 55,926,835 (GRCm39) |
M789I |
probably damaging |
Het |
| Ncapd2 |
T |
C |
6: 125,154,410 (GRCm39) |
D602G |
probably benign |
Het |
| Ncaph2 |
A |
T |
15: 89,254,064 (GRCm39) |
K344* |
probably null |
Het |
| Nek2 |
A |
G |
1: 191,554,371 (GRCm39) |
Y70C |
probably damaging |
Het |
| Or2t1 |
T |
C |
14: 14,328,423 (GRCm38) |
L104P |
possibly damaging |
Het |
| Or4k35 |
T |
A |
2: 111,100,349 (GRCm39) |
D121V |
probably damaging |
Het |
| Or4k37 |
T |
C |
2: 111,158,845 (GRCm39) |
L27P |
probably damaging |
Het |
| Or5ak22 |
G |
A |
2: 85,230,166 (GRCm39) |
A237V |
probably damaging |
Het |
| Or7e166 |
C |
A |
9: 19,624,343 (GRCm39) |
F73L |
possibly damaging |
Het |
| Or8g35 |
T |
A |
9: 39,381,842 (GRCm39) |
Y60F |
probably benign |
Het |
| Plcb3 |
T |
A |
19: 6,937,544 (GRCm39) |
K625* |
probably null |
Het |
| Plrg1 |
T |
C |
3: 82,968,430 (GRCm39) |
|
probably null |
Het |
| Ptpn12 |
A |
G |
5: 21,203,137 (GRCm39) |
V547A |
probably benign |
Het |
| Ralgapb |
A |
G |
2: 158,290,331 (GRCm39) |
D748G |
probably damaging |
Het |
| Rcbtb2 |
A |
G |
14: 73,399,459 (GRCm39) |
E41G |
probably damaging |
Het |
| Rela |
G |
T |
19: 5,691,534 (GRCm39) |
R236L |
possibly damaging |
Het |
| Rps6kc1 |
A |
G |
1: 190,604,059 (GRCm39) |
S188P |
probably damaging |
Het |
| Sipa1l1 |
A |
T |
12: 82,487,723 (GRCm39) |
K1666* |
probably null |
Het |
| Slco1a1 |
C |
T |
6: 141,889,191 (GRCm39) |
M40I |
probably benign |
Het |
| Smarca4 |
C |
A |
9: 21,597,418 (GRCm39) |
P1391Q |
probably benign |
Het |
| Stra6 |
A |
G |
9: 58,057,366 (GRCm39) |
N392S |
possibly damaging |
Het |
| Syt4 |
A |
G |
18: 31,577,246 (GRCm39) |
I36T |
probably damaging |
Het |
| Tgfbr2 |
A |
T |
9: 115,939,197 (GRCm39) |
M235K |
probably benign |
Het |
| Tmem87a |
T |
A |
2: 120,204,966 (GRCm39) |
|
probably null |
Het |
| Tmf1 |
T |
C |
6: 97,135,522 (GRCm39) |
D918G |
probably benign |
Het |
| Tnfaip2 |
A |
G |
12: 111,412,535 (GRCm39) |
Y312C |
probably damaging |
Het |
| Usp47 |
C |
T |
7: 111,703,561 (GRCm39) |
R1178C |
probably damaging |
Het |
| Vmn2r95 |
T |
A |
17: 18,671,994 (GRCm39) |
I577N |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,572,242 (GRCm39) |
V953A |
probably benign |
Het |
| Wasl |
A |
G |
6: 24,633,883 (GRCm39) |
F127S |
probably damaging |
Het |
| Wdr1 |
C |
T |
5: 38,698,206 (GRCm39) |
V192I |
probably damaging |
Het |
| Wnt9a |
C |
T |
11: 59,221,744 (GRCm39) |
T214I |
probably damaging |
Het |
| Xpo5 |
A |
G |
17: 46,540,255 (GRCm39) |
D693G |
probably benign |
Het |
| Zan |
A |
G |
5: 137,385,301 (GRCm39) |
L5044P |
unknown |
Het |
| Zhx3 |
T |
C |
2: 160,623,216 (GRCm39) |
N317S |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation