Incidental Mutation 'R4110:Als2cl'
ID |
317259 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Als2cl
|
Ensembl Gene |
ENSMUSG00000044037 |
Gene Name |
ALS2 C-terminal like |
Synonyms |
D930044G19Rik, mRn.49018 |
MMRRC Submission |
040988-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.106)
|
Stock # |
R4110 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
110709203-110729598 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 110713115 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 2
(S2P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115718
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050958]
[ENSMUST00000084926]
[ENSMUST00000123389]
[ENSMUST00000130386]
[ENSMUST00000155014]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000050958
|
SMART Domains |
Protein: ENSMUSP00000060148 Gene: ENSMUSG00000049555
Domain | Start | End | E-Value | Type |
transmembrane domain
|
12 |
31 |
N/A |
INTRINSIC |
low complexity region
|
37 |
44 |
N/A |
INTRINSIC |
transmembrane domain
|
57 |
79 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000084926
AA Change: S2P
PolyPhen 2
Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000081989 Gene: ENSMUSG00000044037 AA Change: S2P
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
AA Change: S2P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130386
AA Change: S2P
PolyPhen 2
Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000123304 Gene: ENSMUSG00000044037 AA Change: S2P
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 |
noncoding transcript
Transcript: ENSMUST00000143416
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155014
AA Change: S2P
PolyPhen 2
Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000115718 Gene: ENSMUSG00000044037 AA Change: S2P
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: ENSMUST00000198062
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156673
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200613
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.3%
- 20x: 95.6%
|
Validation Efficiency |
100% (61/61) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
Acot10 |
A |
T |
15: 20,666,612 (GRCm39) |
L43Q |
probably damaging |
Het |
Alms1 |
G |
A |
6: 85,597,870 (GRCm39) |
V1368I |
probably benign |
Het |
AW209491 |
T |
C |
13: 14,812,158 (GRCm39) |
V337A |
probably damaging |
Het |
Bace2 |
A |
G |
16: 97,237,856 (GRCm39) |
T436A |
probably benign |
Het |
BC023105 |
A |
G |
18: 60,575,356 (GRCm39) |
|
noncoding transcript |
Het |
Blvra |
T |
C |
2: 126,937,075 (GRCm39) |
V176A |
probably damaging |
Het |
Casp2 |
G |
A |
6: 42,244,828 (GRCm39) |
A76T |
probably damaging |
Het |
Ccdc88c |
A |
G |
12: 100,911,332 (GRCm39) |
L34P |
probably damaging |
Het |
Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
Col6a2 |
T |
A |
10: 76,442,003 (GRCm39) |
|
probably null |
Het |
Cse1l |
T |
C |
2: 166,783,970 (GRCm39) |
Y488H |
probably benign |
Het |
Dip2c |
G |
T |
13: 9,687,137 (GRCm39) |
G1254C |
probably damaging |
Het |
Dnajb12 |
T |
A |
10: 59,730,136 (GRCm39) |
S270R |
possibly damaging |
Het |
Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
Dscaml1 |
G |
A |
9: 45,643,366 (GRCm39) |
A1262T |
probably benign |
Het |
Dtwd2 |
A |
C |
18: 49,831,373 (GRCm39) |
|
probably benign |
Het |
Fadd |
C |
A |
7: 144,134,488 (GRCm39) |
K132N |
possibly damaging |
Het |
Fndc3c1 |
T |
C |
X: 105,487,897 (GRCm39) |
N462S |
probably benign |
Het |
Fzd3 |
A |
G |
14: 65,472,616 (GRCm39) |
V384A |
probably benign |
Het |
Gm6370 |
T |
C |
5: 146,430,702 (GRCm39) |
S296P |
probably benign |
Het |
Gsdmc |
T |
A |
15: 63,651,876 (GRCm39) |
H245L |
probably benign |
Het |
H13 |
T |
C |
2: 152,523,029 (GRCm39) |
I114T |
probably damaging |
Het |
Hhipl2 |
A |
G |
1: 183,204,920 (GRCm39) |
R78G |
probably benign |
Het |
Hrh3 |
C |
A |
2: 179,744,643 (GRCm39) |
R99L |
possibly damaging |
Het |
Ldc1 |
A |
T |
4: 130,112,967 (GRCm39) |
L143Q |
probably damaging |
Het |
Man2c1 |
A |
G |
9: 57,044,055 (GRCm39) |
N330S |
probably damaging |
Het |
Muc19 |
T |
A |
15: 91,781,816 (GRCm39) |
|
noncoding transcript |
Het |
Myh14 |
T |
G |
7: 44,277,974 (GRCm39) |
M1092L |
probably benign |
Het |
Neb |
A |
G |
2: 52,038,778 (GRCm39) |
I2899T |
probably benign |
Het |
Neb |
T |
A |
2: 52,134,137 (GRCm39) |
Q3282L |
probably damaging |
Het |
Nqo2 |
A |
T |
13: 34,163,620 (GRCm39) |
Q93L |
probably benign |
Het |
Or13a18 |
T |
A |
7: 140,190,178 (GRCm39) |
L33Q |
possibly damaging |
Het |
Or13a18 |
C |
A |
7: 140,190,177 (GRCm39) |
L33M |
probably benign |
Het |
Or4a2 |
C |
A |
2: 89,248,444 (GRCm39) |
L104F |
probably benign |
Het |
Or51i2 |
T |
C |
7: 103,689,609 (GRCm39) |
V202A |
probably damaging |
Het |
Pcsk1 |
A |
G |
13: 75,244,488 (GRCm39) |
N122S |
probably damaging |
Het |
Pdzrn4 |
A |
G |
15: 92,668,745 (GRCm39) |
I966V |
probably benign |
Het |
Phldb1 |
G |
A |
9: 44,627,128 (GRCm39) |
T439I |
possibly damaging |
Het |
Pign |
A |
G |
1: 105,481,540 (GRCm39) |
|
probably benign |
Het |
Pkn1 |
A |
T |
8: 84,417,828 (GRCm39) |
D120E |
probably benign |
Het |
Ptpru |
A |
G |
4: 131,546,348 (GRCm39) |
Y301H |
probably damaging |
Het |
Raly |
C |
T |
2: 154,699,378 (GRCm39) |
Q61* |
probably null |
Het |
Rpl24 |
T |
C |
16: 55,791,723 (GRCm39) |
V148A |
probably benign |
Het |
S100a16 |
A |
G |
3: 90,449,379 (GRCm39) |
N18S |
probably damaging |
Het |
Sec31b |
G |
T |
19: 44,512,968 (GRCm39) |
T507N |
possibly damaging |
Het |
Sgca |
T |
C |
11: 94,863,396 (GRCm39) |
T27A |
possibly damaging |
Het |
Slc22a12 |
C |
A |
19: 6,590,658 (GRCm39) |
R203L |
probably damaging |
Het |
Ssbp3 |
C |
A |
4: 106,904,393 (GRCm39) |
|
probably benign |
Het |
Sucnr1 |
C |
G |
3: 59,994,215 (GRCm39) |
R248G |
probably damaging |
Het |
Tbr1 |
C |
T |
2: 61,642,076 (GRCm39) |
P184L |
probably benign |
Het |
Thsd7b |
A |
T |
1: 130,044,356 (GRCm39) |
D1112V |
probably benign |
Het |
Tnc |
A |
G |
4: 63,933,188 (GRCm39) |
V692A |
probably damaging |
Het |
Top2a |
C |
A |
11: 98,913,786 (GRCm39) |
K18N |
probably damaging |
Het |
Topbp1 |
G |
T |
9: 103,187,158 (GRCm39) |
R121L |
probably damaging |
Het |
Unc79 |
T |
C |
12: 103,025,629 (GRCm39) |
C339R |
probably damaging |
Het |
Wdfy3 |
C |
T |
5: 102,047,924 (GRCm39) |
|
probably null |
Het |
Zbtb3 |
G |
C |
19: 8,780,384 (GRCm39) |
|
probably benign |
Het |
Zfp715 |
T |
A |
7: 42,947,304 (GRCm39) |
K885N |
possibly 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 |
R3848:Als2cl
|
UTSW |
9 |
110,718,377 (GRCm39) |
splice site |
probably benign |
|
R3850:Als2cl
|
UTSW |
9 |
110,718,377 (GRCm39) |
splice site |
probably benign |
|
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'- AAAGAACACATGCTTTCGGGC -3'
(R):5'- CTACACTCGCCAGCTAAGAG -3'
Sequencing Primer
(F):5'- AAGCGATGCTTCCCTTGG -3'
(R):5'- CTGCAGGATGAGACTGA -3'
|
Posted On |
2015-05-15 |