Incidental Mutation 'IGL02419:Cobll1'
ID |
292596 |
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 # |
IGL02419
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
64918683-65069742 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 64981392 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 98
(I98K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116196
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090896]
[ENSMUST00000102726]
[ENSMUST00000112429]
[ENSMUST00000112430]
[ENSMUST00000112431]
[ENSMUST00000156643]
[ENSMUST00000155916]
[ENSMUST00000155082]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000090896
AA Change: I66K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000088412 Gene: ENSMUSG00000034903 AA Change: I66K
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: I66K
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000099787 Gene: ENSMUSG00000034903 AA Change: I66K
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: I66K
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000108048 Gene: ENSMUSG00000034903 AA Change: I66K
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 |
possibly damaging
Transcript: ENSMUST00000112430
AA Change: I65K
PolyPhen 2
Score 0.657 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000108049 Gene: ENSMUSG00000034903 AA Change: I65K
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: I66K
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000108050 Gene: ENSMUSG00000034903 AA Change: I66K
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 |
possibly damaging
Transcript: ENSMUST00000156643
AA Change: I43K
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000114447 Gene: ENSMUSG00000034903 AA Change: I43K
Domain | Start | End | E-Value | Type |
low complexity region
|
124 |
135 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000155916
AA Change: I86K
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000115065 Gene: ENSMUSG00000034903 AA Change: I86K
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 damaging
Transcript: ENSMUST00000155082
AA Change: I98K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000116196 Gene: ENSMUSG00000034903 AA Change: I98K
Domain | Start | End | E-Value | Type |
SCOP:d1ijha1
|
2 |
74 |
3e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132979
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136537
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132478
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933402J07Rik |
T |
C |
8: 88,312,727 (GRCm39) |
F171L |
possibly damaging |
Het |
Abca2 |
A |
G |
2: 25,336,849 (GRCm39) |
N2291D |
probably benign |
Het |
Adamts9 |
A |
G |
6: 92,773,978 (GRCm39) |
V1145A |
probably benign |
Het |
Adcy2 |
A |
G |
13: 69,130,482 (GRCm39) |
V135A |
probably benign |
Het |
Akr1c14 |
A |
T |
13: 4,130,617 (GRCm39) |
|
probably null |
Het |
Aptx |
G |
T |
4: 40,691,032 (GRCm39) |
A229E |
probably benign |
Het |
Ash1l |
T |
C |
3: 88,892,872 (GRCm39) |
S1584P |
probably benign |
Het |
Catsper3 |
A |
T |
13: 55,955,881 (GRCm39) |
T329S |
possibly damaging |
Het |
Cntrl |
A |
G |
2: 35,024,055 (GRCm39) |
D27G |
probably damaging |
Het |
Ctdp1 |
T |
C |
18: 80,463,799 (GRCm39) |
K79R |
probably damaging |
Het |
Cwf19l2 |
T |
C |
9: 3,418,777 (GRCm39) |
|
probably null |
Het |
Cyp11b2 |
A |
T |
15: 74,722,904 (GRCm39) |
F498Y |
probably damaging |
Het |
Dnpep |
A |
G |
1: 75,292,332 (GRCm39) |
I162T |
probably damaging |
Het |
Efcab9 |
T |
C |
11: 32,472,950 (GRCm39) |
I166V |
probably benign |
Het |
Ep400 |
A |
T |
5: 110,845,242 (GRCm39) |
|
probably null |
Het |
Gata6 |
G |
A |
18: 11,054,220 (GRCm39) |
G50R |
probably damaging |
Het |
Gm9631 |
G |
A |
11: 121,834,478 (GRCm39) |
|
|
Het |
Grifin |
T |
C |
5: 140,550,455 (GRCm39) |
T20A |
probably benign |
Het |
Hnf4a |
A |
T |
2: 163,408,202 (GRCm39) |
I352F |
probably damaging |
Het |
Ifi204 |
T |
C |
1: 173,576,946 (GRCm39) |
T552A |
possibly damaging |
Het |
Ifi205 |
C |
T |
1: 173,845,180 (GRCm39) |
A201T |
probably damaging |
Het |
Kcnk6 |
A |
G |
7: 28,924,627 (GRCm39) |
V259A |
probably benign |
Het |
Kif21b |
A |
G |
1: 136,079,005 (GRCm39) |
N451S |
probably benign |
Het |
Klhl24 |
T |
A |
16: 19,926,118 (GRCm39) |
Y215* |
probably null |
Het |
Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
Mical1 |
A |
G |
10: 41,358,273 (GRCm39) |
K429E |
possibly damaging |
Het |
Misp |
A |
G |
10: 79,663,705 (GRCm39) |
|
probably benign |
Het |
Mon2 |
T |
C |
10: 122,852,352 (GRCm39) |
N1007S |
probably benign |
Het |
Or10v1 |
A |
T |
19: 11,874,186 (GRCm39) |
Y267F |
probably benign |
Het |
Or14a260 |
C |
A |
7: 85,984,870 (GRCm39) |
V245F |
probably damaging |
Het |
Or51v8 |
A |
T |
7: 103,319,682 (GRCm39) |
C185* |
probably null |
Het |
Or8k41 |
T |
A |
2: 86,313,259 (GRCm39) |
I276F |
probably damaging |
Het |
Pex6 |
C |
A |
17: 47,035,361 (GRCm39) |
T840N |
possibly damaging |
Het |
Prox1 |
C |
T |
1: 189,893,327 (GRCm39) |
A373T |
probably benign |
Het |
Rapgef3 |
G |
T |
15: 97,648,171 (GRCm39) |
N679K |
probably benign |
Het |
Serpina3n |
T |
C |
12: 104,379,777 (GRCm39) |
V390A |
possibly damaging |
Het |
Sirpb1a |
A |
G |
3: 15,491,398 (GRCm39) |
F23S |
probably benign |
Het |
Slc44a3 |
T |
C |
3: 121,283,906 (GRCm39) |
T449A |
probably benign |
Het |
Smad6 |
G |
A |
9: 63,860,800 (GRCm39) |
|
probably benign |
Het |
Sos2 |
C |
T |
12: 69,663,764 (GRCm39) |
M573I |
probably benign |
Het |
St8sia1 |
A |
T |
6: 142,774,661 (GRCm39) |
I306N |
probably damaging |
Het |
Tnks1bp1 |
T |
C |
2: 84,902,125 (GRCm39) |
S1674P |
possibly damaging |
Het |
Trim47 |
G |
A |
11: 115,997,027 (GRCm39) |
R576W |
probably damaging |
Het |
Wdr86 |
A |
T |
5: 24,927,702 (GRCm39) |
I79N |
probably damaging |
Het |
Wwp2 |
T |
A |
8: 108,276,447 (GRCm39) |
V473D |
probably damaging |
Het |
Zc3h12a |
T |
C |
4: 125,013,581 (GRCm39) |
T428A |
probably benign |
Het |
Zfp592 |
A |
G |
7: 80,687,993 (GRCm39) |
E973G |
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 |
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 |
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 |