Incidental Mutation 'R7052:Als2cl'
| ID |
547664 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Als2cl
|
| Ensembl Gene |
ENSMUSG00000044037 |
| Gene Name |
ALS2 C-terminal like |
| Synonyms |
D930044G19Rik, mRn.49018 |
| MMRRC Submission |
045149-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R7052 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
110709203-110729598 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 110727151 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 906
(R906C)
|
| 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 damaging
Transcript: ENSMUST00000084926
AA Change: R906C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000081989
Gene: ENSMUSG00000044037
AA Change: R906C
| 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 damaging
Transcript: ENSMUST00000130386
AA Change: R906C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123304
Gene: ENSMUSG00000044037
AA Change: R906C
| 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 damaging
Transcript: ENSMUST00000155014
AA Change: R906C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115718
Gene: ENSMUSG00000044037
AA Change: R906C
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (63/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
C |
T |
6: 142,604,261 (GRCm39) |
R658H |
probably benign |
Het |
| Asb8 |
T |
C |
15: 98,034,282 (GRCm39) |
H91R |
probably damaging |
Het |
| Atp8b3 |
C |
T |
10: 80,355,858 (GRCm39) |
E1285K |
probably benign |
Het |
| Bves |
G |
A |
10: 45,222,386 (GRCm39) |
R172H |
possibly damaging |
Het |
| C6 |
A |
T |
15: 4,763,177 (GRCm39) |
N59I |
probably damaging |
Het |
| Capn15 |
A |
T |
17: 26,180,724 (GRCm39) |
V782D |
probably damaging |
Het |
| Ccdc168 |
T |
A |
1: 44,096,466 (GRCm39) |
Y1544F |
possibly damaging |
Het |
| Ccdc18 |
T |
C |
5: 108,309,554 (GRCm39) |
L383S |
probably benign |
Het |
| Coro6 |
C |
A |
11: 77,357,056 (GRCm39) |
N119K |
probably benign |
Het |
| Cps1 |
T |
A |
1: 67,237,569 (GRCm39) |
D1023E |
probably damaging |
Het |
| Dctn1 |
T |
A |
6: 83,172,262 (GRCm39) |
|
probably null |
Het |
| Ero1a |
T |
A |
14: 45,544,040 (GRCm39) |
K55* |
probably null |
Het |
| Fam209 |
G |
A |
2: 172,314,751 (GRCm39) |
G80D |
possibly damaging |
Het |
| Fam89b |
G |
A |
19: 5,779,276 (GRCm39) |
R94C |
probably damaging |
Het |
| Fut1 |
A |
G |
7: 45,269,181 (GRCm39) |
*323W |
probably null |
Het |
| Garin2 |
C |
T |
12: 78,766,176 (GRCm39) |
T315I |
probably benign |
Het |
| Gm47985 |
T |
A |
1: 151,058,890 (GRCm39) |
F177Y |
possibly damaging |
Het |
| Gstm7 |
T |
A |
3: 107,838,633 (GRCm39) |
D37V |
probably damaging |
Het |
| H2-Aa |
T |
A |
17: 34,503,484 (GRCm39) |
S38C |
possibly damaging |
Het |
| Ighg2c |
T |
C |
12: 113,252,343 (GRCm39) |
T70A |
|
Het |
| Ino80 |
A |
G |
2: 119,257,068 (GRCm39) |
|
probably null |
Het |
| Irf8 |
C |
T |
8: 121,466,581 (GRCm39) |
R9W |
probably damaging |
Het |
| Kcnt2 |
A |
G |
1: 140,310,785 (GRCm39) |
N197S |
probably damaging |
Het |
| Kif11 |
T |
A |
19: 37,373,040 (GRCm39) |
C86* |
probably null |
Het |
| Lonp1 |
A |
T |
17: 56,933,549 (GRCm39) |
F109I |
probably benign |
Het |
| Mlkl |
G |
A |
8: 112,046,074 (GRCm39) |
S312L |
possibly damaging |
Het |
| Mroh9 |
T |
A |
1: 162,866,525 (GRCm39) |
Q706L |
possibly damaging |
Het |
| Mtmr7 |
T |
C |
8: 41,008,874 (GRCm39) |
H315R |
possibly damaging |
Het |
| Myh7b |
G |
C |
2: 155,456,053 (GRCm39) |
R146P |
probably damaging |
Het |
| Naip5 |
A |
G |
13: 100,358,855 (GRCm39) |
Y794H |
probably benign |
Het |
| Nup153 |
A |
T |
13: 46,840,949 (GRCm39) |
N886K |
probably benign |
Het |
| Nup205 |
A |
G |
6: 35,192,077 (GRCm39) |
R1047G |
possibly damaging |
Het |
| Oog3 |
A |
T |
4: 143,887,027 (GRCm39) |
L31Q |
probably damaging |
Het |
| Or5b123 |
T |
A |
19: 13,596,990 (GRCm39) |
S155T |
probably benign |
Het |
| Or6c38 |
T |
C |
10: 128,929,744 (GRCm39) |
Y33C |
probably damaging |
Het |
| Palmd |
T |
C |
3: 116,717,012 (GRCm39) |
N495S |
probably benign |
Het |
| Patj |
A |
G |
4: 98,565,497 (GRCm39) |
Q1070R |
probably benign |
Het |
| Pax1 |
G |
A |
2: 147,207,824 (GRCm39) |
R232H |
probably damaging |
Het |
| Pcdhb1 |
A |
G |
18: 37,399,582 (GRCm39) |
N511S |
probably damaging |
Het |
| Pigs |
C |
T |
11: 78,232,211 (GRCm39) |
L448F |
probably damaging |
Het |
| Pih1d2 |
A |
G |
9: 50,533,077 (GRCm39) |
Y235C |
probably damaging |
Het |
| Pkd2l2 |
T |
A |
18: 34,558,212 (GRCm39) |
I297K |
possibly damaging |
Het |
| Pou2f1 |
C |
T |
1: 165,742,684 (GRCm39) |
V82I |
possibly damaging |
Het |
| Pramel1 |
T |
C |
4: 143,123,074 (GRCm39) |
L17P |
probably damaging |
Het |
| Riok1 |
C |
T |
13: 38,220,991 (GRCm39) |
|
probably benign |
Het |
| Scg3 |
C |
A |
9: 75,568,664 (GRCm39) |
E358* |
probably null |
Het |
| Siglec15 |
T |
C |
18: 78,091,946 (GRCm39) |
E85G |
probably damaging |
Het |
| Snx20 |
T |
C |
8: 89,356,606 (GRCm39) |
H70R |
probably benign |
Het |
| Spi1 |
T |
A |
2: 90,943,685 (GRCm39) |
S76R |
probably damaging |
Het |
| Stat5a |
T |
C |
11: 100,770,111 (GRCm39) |
S463P |
probably damaging |
Het |
| Svs5 |
A |
G |
2: 164,080,126 (GRCm39) |
I13T |
unknown |
Het |
| Tmem132e |
T |
C |
11: 82,328,189 (GRCm39) |
S406P |
probably damaging |
Het |
| Top1mt |
T |
C |
15: 75,540,560 (GRCm39) |
N237S |
possibly damaging |
Het |
| Trav6d-4 |
G |
A |
14: 52,991,053 (GRCm39) |
V30M |
possibly damaging |
Het |
| Trp73 |
A |
T |
4: 154,149,140 (GRCm39) |
M217K |
probably damaging |
Het |
| Vmn1r58 |
A |
G |
7: 5,414,134 (GRCm39) |
I32T |
probably benign |
Het |
| Vmn1r9 |
T |
C |
6: 57,048,396 (GRCm39) |
M157T |
probably benign |
Het |
| Vmn2r100 |
C |
T |
17: 19,751,556 (GRCm39) |
S533F |
possibly damaging |
Het |
| Vmn2r112 |
T |
A |
17: 22,821,507 (GRCm39) |
M160K |
probably benign |
Het |
| Vps13d |
C |
A |
4: 144,889,914 (GRCm39) |
A597S |
probably benign |
Het |
| Zfp27 |
AATCCGCTTGTGCA |
AA |
7: 29,594,446 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
|
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'- TTGAAGCCCAGAAAGGAGCC -3'
(R):5'- GAACAGCTGTCAGCCATGTTC -3'
Sequencing Primer
(F):5'- AGCCAGTCTCATGAGATCTGG -3'
(R):5'- TGTTCTGCAGGCAAACAGC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation