Incidental Mutation 'IGL01991:Als2cl'
ID |
182877 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Als2cl
|
Ensembl Gene |
ENSMUSG00000044037 |
Gene Name |
ALS2 C-terminal like |
Synonyms |
D930044G19Rik, mRn.49018 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.086)
|
Stock # |
IGL01991
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
110709203-110729598 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 110721985 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 584
(R584C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115718
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084926]
[ENSMUST00000130386]
[ENSMUST00000155014]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000084926
AA Change: R584C
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000081989 Gene: ENSMUSG00000044037 AA Change: R584C
Domain | Start | End | E-Value | Type |
SCOP:d1by1a_
|
8 |
215 |
2e-3 |
SMART |
Blast:PH
|
220 |
318 |
8e-7 |
BLAST |
MORN
|
356 |
377 |
1.83e-3 |
SMART |
Pfam:MORN
|
381 |
397 |
4.5e-4 |
PFAM |
MORN
|
407 |
428 |
1.2e1 |
SMART |
MORN
|
430 |
451 |
3.71e-1 |
SMART |
MORN
|
457 |
478 |
4.33e-1 |
SMART |
MORN
|
481 |
502 |
3.18e-1 |
SMART |
MORN
|
504 |
525 |
1.68e0 |
SMART |
MORN
|
527 |
549 |
3.63e1 |
SMART |
Pfam:VPS9
|
833 |
937 |
1.3e-20 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130386
AA Change: R584C
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000123304 Gene: ENSMUSG00000044037 AA Change: R584C
Domain | Start | End | E-Value | Type |
SCOP:d1by1a_
|
8 |
215 |
2e-3 |
SMART |
Blast:PH
|
220 |
318 |
8e-7 |
BLAST |
MORN
|
356 |
377 |
1.83e-3 |
SMART |
Pfam:MORN
|
381 |
397 |
4.5e-4 |
PFAM |
MORN
|
407 |
428 |
1.2e1 |
SMART |
MORN
|
430 |
451 |
3.71e-1 |
SMART |
MORN
|
457 |
478 |
4.33e-1 |
SMART |
MORN
|
481 |
502 |
3.18e-1 |
SMART |
MORN
|
504 |
525 |
1.68e0 |
SMART |
MORN
|
527 |
549 |
3.63e1 |
SMART |
Pfam:VPS9
|
833 |
937 |
1.3e-20 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141845
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155014
AA Change: R584C
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000115718 Gene: ENSMUSG00000044037 AA Change: R584C
Domain | Start | End | E-Value | Type |
SCOP:d1by1a_
|
8 |
215 |
2e-3 |
SMART |
Blast:PH
|
220 |
318 |
8e-7 |
BLAST |
MORN
|
356 |
377 |
1.83e-3 |
SMART |
Pfam:MORN
|
381 |
399 |
5.6e-4 |
PFAM |
MORN
|
407 |
428 |
1.2e1 |
SMART |
MORN
|
430 |
451 |
3.71e-1 |
SMART |
MORN
|
457 |
478 |
4.33e-1 |
SMART |
MORN
|
481 |
502 |
3.18e-1 |
SMART |
MORN
|
504 |
525 |
1.68e0 |
SMART |
MORN
|
527 |
549 |
3.63e1 |
SMART |
Pfam:VPS9
|
833 |
937 |
1.7e-22 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156673
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195890
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034J05Rik |
A |
T |
6: 146,854,608 (GRCm39) |
F145I |
probably benign |
Het |
Acot7 |
A |
G |
4: 152,307,536 (GRCm39) |
K152E |
possibly damaging |
Het |
Adamts13 |
G |
T |
2: 26,880,610 (GRCm39) |
G731V |
probably damaging |
Het |
Apba1 |
T |
A |
19: 23,914,836 (GRCm39) |
S679T |
possibly damaging |
Het |
Asxl3 |
G |
A |
18: 22,649,219 (GRCm39) |
V403I |
probably damaging |
Het |
Card11 |
T |
C |
5: 140,899,133 (GRCm39) |
T14A |
possibly damaging |
Het |
Creb1 |
T |
C |
1: 64,598,913 (GRCm39) |
F97L |
probably benign |
Het |
Crispld1 |
T |
A |
1: 17,823,241 (GRCm39) |
H407Q |
probably benign |
Het |
Crtac1 |
A |
T |
19: 42,402,560 (GRCm39) |
L16Q |
possibly damaging |
Het |
Cyp2c29 |
T |
C |
19: 39,318,759 (GRCm39) |
I452T |
probably damaging |
Het |
Dennd5b |
A |
T |
6: 148,982,322 (GRCm39) |
D95E |
probably damaging |
Het |
Dysf |
C |
T |
6: 84,090,600 (GRCm39) |
P1002L |
probably damaging |
Het |
Gm6878 |
G |
A |
14: 67,543,678 (GRCm39) |
|
probably benign |
Het |
Greb1 |
T |
C |
12: 16,749,682 (GRCm39) |
Y1048C |
probably damaging |
Het |
Iqcc |
T |
A |
4: 129,511,582 (GRCm39) |
E105V |
probably benign |
Het |
Lhx8 |
A |
G |
3: 154,030,191 (GRCm39) |
L116P |
probably damaging |
Het |
Lrrk2 |
A |
G |
15: 91,664,149 (GRCm39) |
D1962G |
probably damaging |
Het |
Map1b |
T |
A |
13: 99,566,077 (GRCm39) |
M2215L |
unknown |
Het |
Mapk8ip3 |
A |
T |
17: 25,146,835 (GRCm39) |
L136Q |
possibly damaging |
Het |
Mical3 |
T |
C |
6: 120,912,172 (GRCm39) |
N1896D |
probably damaging |
Het |
Mprip |
A |
G |
11: 59,645,838 (GRCm39) |
E674G |
probably damaging |
Het |
Or6b13 |
C |
T |
7: 139,782,345 (GRCm39) |
E113K |
probably damaging |
Het |
Or8j3 |
T |
C |
2: 86,028,877 (GRCm39) |
N73S |
probably benign |
Het |
Pdzrn4 |
T |
A |
15: 92,299,807 (GRCm39) |
|
probably null |
Het |
Pramel41 |
A |
T |
5: 94,593,705 (GRCm39) |
Q10L |
probably benign |
Het |
Prom1 |
T |
C |
5: 44,204,848 (GRCm39) |
T209A |
probably benign |
Het |
Prom2 |
C |
A |
2: 127,371,142 (GRCm39) |
C785F |
probably damaging |
Het |
Psg20 |
T |
C |
7: 18,418,350 (GRCm39) |
Q139R |
probably benign |
Het |
Rapgef6 |
T |
A |
11: 54,443,695 (GRCm39) |
C93S |
probably benign |
Het |
Rassf2 |
C |
T |
2: 131,842,352 (GRCm39) |
|
probably null |
Het |
Scn11a |
A |
G |
9: 119,648,970 (GRCm39) |
I31T |
probably damaging |
Het |
Slc4a5 |
A |
T |
6: 83,240,525 (GRCm39) |
D164V |
possibly damaging |
Het |
Slco3a1 |
T |
C |
7: 73,934,144 (GRCm39) |
D676G |
possibly damaging |
Het |
Tmcc2 |
T |
C |
1: 132,288,830 (GRCm39) |
I208V |
probably benign |
Het |
Traf4 |
T |
C |
11: 78,050,872 (GRCm39) |
D428G |
possibly damaging |
Het |
Trio |
T |
C |
15: 27,871,360 (GRCm39) |
I586V |
possibly damaging |
Het |
Unc80 |
T |
A |
1: 66,508,668 (GRCm39) |
C46* |
probably null |
Het |
Vmn2r89 |
A |
G |
14: 51,689,676 (GRCm39) |
N60D |
probably benign |
Het |
Wscd1 |
A |
T |
11: 71,678,549 (GRCm39) |
K391* |
probably null |
Het |
Wwc2 |
A |
T |
8: 48,322,901 (GRCm39) |
L400* |
probably null |
Het |
|
Other mutations in Als2cl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00424:Als2cl
|
APN |
9 |
110,715,607 (GRCm39) |
critical splice donor site |
probably null |
|
IGL00743:Als2cl
|
APN |
9 |
110,718,227 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL01504:Als2cl
|
APN |
9 |
110,718,351 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02073:Als2cl
|
APN |
9 |
110,723,407 (GRCm39) |
missense |
probably benign |
|
IGL02407:Als2cl
|
APN |
9 |
110,718,295 (GRCm39) |
nonsense |
probably null |
|
IGL03266:Als2cl
|
APN |
9 |
110,719,924 (GRCm39) |
missense |
possibly damaging |
0.74 |
R0006:Als2cl
|
UTSW |
9 |
110,723,686 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0127:Als2cl
|
UTSW |
9 |
110,720,935 (GRCm39) |
missense |
probably damaging |
1.00 |
R0395:Als2cl
|
UTSW |
9 |
110,727,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R0490:Als2cl
|
UTSW |
9 |
110,724,414 (GRCm39) |
missense |
probably benign |
0.04 |
R0540:Als2cl
|
UTSW |
9 |
110,724,852 (GRCm39) |
nonsense |
probably null |
|
R0900:Als2cl
|
UTSW |
9 |
110,719,496 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1542:Als2cl
|
UTSW |
9 |
110,723,102 (GRCm39) |
missense |
probably benign |
0.36 |
R1574:Als2cl
|
UTSW |
9 |
110,713,128 (GRCm39) |
missense |
probably damaging |
1.00 |
R1574:Als2cl
|
UTSW |
9 |
110,713,128 (GRCm39) |
missense |
probably damaging |
1.00 |
R2059:Als2cl
|
UTSW |
9 |
110,714,506 (GRCm39) |
missense |
probably benign |
0.00 |
R2168:Als2cl
|
UTSW |
9 |
110,717,810 (GRCm39) |
missense |
probably damaging |
1.00 |
R2851:Als2cl
|
UTSW |
9 |
110,723,203 (GRCm39) |
missense |
probably damaging |
0.99 |
R2853:Als2cl
|
UTSW |
9 |
110,723,203 (GRCm39) |
missense |
probably damaging |
0.99 |
R2919:Als2cl
|
UTSW |
9 |
110,726,567 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3761:Als2cl
|
UTSW |
9 |
110,727,202 (GRCm39) |
missense |
probably damaging |
1.00 |
R3848:Als2cl
|
UTSW |
9 |
110,718,377 (GRCm39) |
splice site |
probably benign |
|
R3850:Als2cl
|
UTSW |
9 |
110,718,377 (GRCm39) |
splice site |
probably benign |
|
R4110:Als2cl
|
UTSW |
9 |
110,713,115 (GRCm39) |
missense |
probably benign |
0.18 |
R4438:Als2cl
|
UTSW |
9 |
110,714,466 (GRCm39) |
missense |
probably damaging |
0.98 |
R4732:Als2cl
|
UTSW |
9 |
110,718,204 (GRCm39) |
missense |
probably damaging |
0.99 |
R4733:Als2cl
|
UTSW |
9 |
110,718,204 (GRCm39) |
missense |
probably damaging |
0.99 |
R5060:Als2cl
|
UTSW |
9 |
110,713,205 (GRCm39) |
missense |
probably damaging |
0.99 |
R5119:Als2cl
|
UTSW |
9 |
110,719,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R5905:Als2cl
|
UTSW |
9 |
110,727,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R5913:Als2cl
|
UTSW |
9 |
110,718,773 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5930:Als2cl
|
UTSW |
9 |
110,716,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R6197:Als2cl
|
UTSW |
9 |
110,724,952 (GRCm39) |
missense |
probably damaging |
1.00 |
R6362:Als2cl
|
UTSW |
9 |
110,724,514 (GRCm39) |
splice site |
probably null |
|
R7052:Als2cl
|
UTSW |
9 |
110,727,151 (GRCm39) |
missense |
probably damaging |
1.00 |
R7081:Als2cl
|
UTSW |
9 |
110,723,650 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7472:Als2cl
|
UTSW |
9 |
110,727,174 (GRCm39) |
missense |
probably benign |
0.05 |
R7854:Als2cl
|
UTSW |
9 |
110,727,564 (GRCm39) |
makesense |
probably null |
|
R8120:Als2cl
|
UTSW |
9 |
110,714,460 (GRCm39) |
missense |
possibly damaging |
0.57 |
R8279:Als2cl
|
UTSW |
9 |
110,723,653 (GRCm39) |
missense |
probably damaging |
1.00 |
R8458:Als2cl
|
UTSW |
9 |
110,714,025 (GRCm39) |
missense |
probably damaging |
0.98 |
R8475:Als2cl
|
UTSW |
9 |
110,715,484 (GRCm39) |
missense |
possibly damaging |
0.46 |
R8808:Als2cl
|
UTSW |
9 |
110,718,282 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8819:Als2cl
|
UTSW |
9 |
110,714,855 (GRCm39) |
missense |
probably benign |
0.07 |
R8820:Als2cl
|
UTSW |
9 |
110,714,855 (GRCm39) |
missense |
probably benign |
0.07 |
R9070:Als2cl
|
UTSW |
9 |
110,718,288 (GRCm39) |
missense |
probably benign |
|
R9149:Als2cl
|
UTSW |
9 |
110,718,191 (GRCm39) |
missense |
probably benign |
0.42 |
R9257:Als2cl
|
UTSW |
9 |
110,723,755 (GRCm39) |
missense |
probably damaging |
1.00 |
X0011:Als2cl
|
UTSW |
9 |
110,714,079 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Als2cl
|
UTSW |
9 |
110,724,885 (GRCm39) |
nonsense |
probably null |
|
Z1177:Als2cl
|
UTSW |
9 |
110,717,596 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2014-05-07 |