Incidental Mutation 'R3848:Als2cl'
ID |
275771 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Als2cl
|
Ensembl Gene |
ENSMUSG00000044037 |
Gene Name |
ALS2 C-terminal like |
Synonyms |
D930044G19Rik, mRn.49018 |
MMRRC Submission |
040896-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.086)
|
Stock # |
R3848 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
110709203-110729598 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 110718377 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115718
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084926]
[ENSMUST00000123389]
[ENSMUST00000130386]
[ENSMUST00000155014]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000084926
|
SMART Domains |
Protein: ENSMUSP00000081989 Gene: ENSMUSG00000044037
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: ENSMUST00000123389
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130386
|
SMART Domains |
Protein: ENSMUSP00000123304 Gene: ENSMUSG00000044037
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
|
SMART Domains |
Protein: ENSMUSP00000115718 Gene: ENSMUSG00000044037
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: ENSMUST00000200613
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195890
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.8%
|
Validation Efficiency |
100% (62/62) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl1 |
A |
T |
4: 86,336,783 (GRCm39) |
Q1564L |
probably damaging |
Het |
Adgrv1 |
A |
G |
13: 81,588,191 (GRCm39) |
V4465A |
probably damaging |
Het |
Anxa2 |
G |
T |
9: 69,374,624 (GRCm39) |
D34Y |
probably damaging |
Het |
Asic1 |
A |
G |
15: 99,570,814 (GRCm39) |
N143S |
probably benign |
Het |
Catsperb |
A |
C |
12: 101,475,585 (GRCm39) |
Q376H |
probably damaging |
Het |
Cd72 |
T |
C |
4: 43,452,525 (GRCm39) |
E132G |
possibly damaging |
Het |
Cdh16 |
T |
C |
8: 105,344,473 (GRCm39) |
D22G |
possibly damaging |
Het |
Cep170 |
G |
A |
1: 176,583,409 (GRCm39) |
A990V |
probably benign |
Het |
Col15a1 |
T |
C |
4: 47,289,374 (GRCm39) |
V48A |
possibly damaging |
Het |
Col3a1 |
C |
A |
1: 45,361,150 (GRCm39) |
P112T |
unknown |
Het |
Cpeb2 |
T |
G |
5: 43,394,788 (GRCm39) |
S64A |
probably damaging |
Het |
Cplx3 |
G |
A |
9: 57,515,600 (GRCm39) |
A425V |
possibly damaging |
Het |
Ctsc |
A |
G |
7: 87,958,818 (GRCm39) |
H366R |
probably benign |
Het |
Cul5 |
T |
G |
9: 53,529,286 (GRCm39) |
M800L |
probably benign |
Het |
Dst |
C |
T |
1: 34,251,400 (GRCm39) |
S4165F |
probably damaging |
Het |
Efhb |
A |
T |
17: 53,734,024 (GRCm39) |
|
probably benign |
Het |
Fat4 |
T |
A |
3: 39,061,410 (GRCm39) |
V4331D |
probably benign |
Het |
Fbxl8 |
T |
C |
8: 105,993,781 (GRCm39) |
S46P |
probably benign |
Het |
Fbxo38 |
G |
A |
18: 62,648,144 (GRCm39) |
S798F |
possibly damaging |
Het |
Fggy |
T |
C |
4: 95,489,361 (GRCm39) |
|
probably benign |
Het |
Foxp4 |
A |
G |
17: 48,186,453 (GRCm39) |
I442T |
unknown |
Het |
Gm13941 |
T |
C |
2: 110,935,198 (GRCm39) |
M11V |
unknown |
Het |
Hoxd8 |
A |
G |
2: 74,535,929 (GRCm39) |
Y13C |
possibly damaging |
Het |
Hsf4 |
T |
C |
8: 105,997,469 (GRCm39) |
F101L |
probably damaging |
Het |
Jph2 |
G |
A |
2: 163,181,332 (GRCm39) |
P611S |
probably benign |
Het |
Kifbp |
A |
G |
10: 62,405,249 (GRCm39) |
Y64H |
probably damaging |
Het |
Kndc1 |
T |
C |
7: 139,488,893 (GRCm39) |
S183P |
probably damaging |
Het |
L3mbtl1 |
A |
G |
2: 162,790,121 (GRCm39) |
E132G |
probably damaging |
Het |
Lmo7 |
A |
G |
14: 102,159,531 (GRCm39) |
|
probably null |
Het |
Lrpprc |
T |
C |
17: 85,078,355 (GRCm39) |
I308V |
probably benign |
Het |
Mei1 |
T |
C |
15: 81,997,218 (GRCm39) |
|
probably benign |
Het |
Mki67 |
A |
C |
7: 135,297,859 (GRCm39) |
S2392A |
probably benign |
Het |
Naip2 |
A |
T |
13: 100,315,940 (GRCm39) |
L280Q |
probably damaging |
Het |
Naip2 |
G |
C |
13: 100,315,941 (GRCm39) |
L280V |
probably damaging |
Het |
Nek1 |
T |
A |
8: 61,525,349 (GRCm39) |
F596I |
probably damaging |
Het |
Or51v8 |
A |
G |
7: 103,319,908 (GRCm39) |
V110A |
probably damaging |
Het |
Or52e8b |
A |
G |
7: 104,673,539 (GRCm39) |
V216A |
probably damaging |
Het |
Or8u10 |
A |
T |
2: 85,915,751 (GRCm39) |
Y123* |
probably null |
Het |
Orc2 |
T |
C |
1: 58,520,151 (GRCm39) |
T225A |
probably benign |
Het |
P2ry1 |
G |
A |
3: 60,910,880 (GRCm39) |
W6* |
probably null |
Het |
Pam |
T |
A |
1: 97,782,481 (GRCm39) |
|
probably benign |
Het |
Pigt |
G |
A |
2: 164,340,500 (GRCm39) |
|
probably benign |
Het |
Pik3c2a |
A |
T |
7: 115,963,785 (GRCm39) |
C71* |
probably null |
Het |
Plcxd2 |
T |
C |
16: 45,792,629 (GRCm39) |
T237A |
probably damaging |
Het |
Pnrc1 |
T |
C |
4: 33,246,252 (GRCm39) |
K236E |
probably damaging |
Het |
Ppargc1b |
T |
A |
18: 61,444,113 (GRCm39) |
D350V |
probably damaging |
Het |
Rapgef6 |
T |
C |
11: 54,582,134 (GRCm39) |
S1349P |
probably damaging |
Het |
Rnf17 |
T |
C |
14: 56,749,753 (GRCm39) |
V1433A |
probably damaging |
Het |
Sell |
A |
T |
1: 163,893,230 (GRCm39) |
K149* |
probably null |
Het |
Sidt1 |
A |
G |
16: 44,076,322 (GRCm39) |
|
probably benign |
Het |
Slc6a5 |
C |
G |
7: 49,577,306 (GRCm39) |
|
probably benign |
Het |
Slc7a14 |
A |
T |
3: 31,291,623 (GRCm39) |
N218K |
probably damaging |
Het |
Spice1 |
C |
T |
16: 44,199,254 (GRCm39) |
R569* |
probably null |
Het |
Stk35 |
G |
T |
2: 129,642,656 (GRCm39) |
A66S |
probably benign |
Het |
Tmem245 |
A |
G |
4: 56,926,298 (GRCm39) |
|
probably benign |
Het |
Tnxb |
A |
C |
17: 34,909,369 (GRCm39) |
R1632S |
possibly damaging |
Het |
Ttc6 |
G |
A |
12: 57,723,932 (GRCm39) |
R1020H |
probably damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Vmn2r105 |
A |
G |
17: 20,428,952 (GRCm39) |
I708T |
possibly damaging |
Het |
Vmn2r117 |
G |
T |
17: 23,679,389 (GRCm39) |
H612N |
probably damaging |
Het |
Vmn2r15 |
A |
T |
5: 109,445,312 (GRCm39) |
D37E |
probably benign |
Het |
Zbtb41 |
T |
A |
1: 139,351,734 (GRCm39) |
H282Q |
probably benign |
Het |
Zfp687 |
T |
C |
3: 94,915,225 (GRCm39) |
D1092G |
probably damaging |
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 |
IGL01991:Als2cl
|
APN |
9 |
110,721,985 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATACCTGCAGCAGCGATGAC -3'
(R):5'- ACCCCTGACAACTTCCATGG -3'
Sequencing Primer
(F):5'- TGCAGCAGCGATGACATGTC -3'
(R):5'- CCTGACAACTTCCATGGGGAGAG -3'
|
Posted On |
2015-04-06 |