Incidental Mutation 'R8279:Als2cl'
| ID |
638121 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Als2cl
|
| Ensembl Gene |
ENSMUSG00000044037 |
| Gene Name |
ALS2 C-terminal like |
| Synonyms |
D930044G19Rik, mRn.49018 |
| MMRRC Submission |
067702-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R8279 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
110709203-110729598 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110723653 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 683
(H683R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081989
(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: H683R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000081989
Gene: ENSMUSG00000044037
AA Change: H683R
| 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: H683R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123304
Gene: ENSMUSG00000044037
AA Change: H683R
| 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: H683R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115718
Gene: ENSMUSG00000044037
AA Change: H683R
| 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: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,069,549 (GRCm39) |
N1282S |
probably benign |
Het |
| Ank2 |
C |
T |
3: 126,726,820 (GRCm39) |
D825N |
probably benign |
Het |
| Aven |
C |
T |
2: 112,390,120 (GRCm39) |
R8W |
probably benign |
Het |
| Axl |
C |
T |
7: 25,463,379 (GRCm39) |
D633N |
probably benign |
Het |
| C3 |
A |
G |
17: 57,522,809 (GRCm39) |
V1025A |
probably benign |
Het |
| Cc2d2a |
T |
C |
5: 43,893,487 (GRCm39) |
S1489P |
probably benign |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Cdk14 |
G |
A |
5: 5,316,125 (GRCm39) |
|
probably benign |
Het |
| Clpb |
T |
C |
7: 101,355,695 (GRCm39) |
V183A |
possibly damaging |
Het |
| Cpa3 |
C |
T |
3: 20,277,478 (GRCm39) |
M232I |
possibly damaging |
Het |
| Cyp2j7 |
A |
G |
4: 96,116,796 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
A |
G |
11: 69,366,399 (GRCm39) |
I1907T |
probably damaging |
Het |
| Efemp1 |
T |
C |
11: 28,871,795 (GRCm39) |
F437L |
possibly damaging |
Het |
| Fat1 |
T |
A |
8: 45,483,384 (GRCm39) |
|
probably null |
Het |
| Fry |
A |
T |
5: 150,419,726 (GRCm39) |
T599S |
|
Het |
| Gm10142 |
T |
A |
10: 77,552,001 (GRCm39) |
*121R |
probably null |
Het |
| Kcng3 |
A |
C |
17: 83,895,254 (GRCm39) |
F404C |
probably damaging |
Het |
| Mefv |
T |
G |
16: 3,533,086 (GRCm39) |
H395P |
unknown |
Het |
| Mrc1 |
T |
A |
2: 14,271,168 (GRCm39) |
D357E |
possibly damaging |
Het |
| Muc15 |
A |
G |
2: 110,562,052 (GRCm39) |
T163A |
probably benign |
Het |
| Ncdn |
T |
C |
4: 126,644,199 (GRCm39) |
T208A |
probably benign |
Het |
| Or2q1 |
A |
T |
6: 42,794,557 (GRCm39) |
I51F |
probably damaging |
Het |
| Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
| Pdpk1 |
A |
G |
17: 24,307,147 (GRCm39) |
S395P |
probably benign |
Het |
| Slc27a6 |
T |
C |
18: 58,705,251 (GRCm39) |
V211A |
probably benign |
Het |
| Slco3a1 |
T |
C |
7: 73,934,144 (GRCm39) |
D676G |
possibly damaging |
Het |
| Slfn4 |
T |
G |
11: 83,077,482 (GRCm39) |
M90R |
possibly damaging |
Het |
| Ssbp4 |
T |
C |
8: 71,054,955 (GRCm39) |
D68G |
probably damaging |
Het |
| Sval3 |
A |
G |
6: 41,949,371 (GRCm39) |
T70A |
possibly damaging |
Het |
| Taf1c |
C |
T |
8: 120,325,750 (GRCm39) |
R704Q |
probably benign |
Het |
| Tex15 |
T |
A |
8: 34,061,765 (GRCm39) |
D398E |
probably damaging |
Het |
| Tmprss3 |
A |
T |
17: 31,416,709 (GRCm39) |
V9E |
probably benign |
Het |
| Vps35l |
T |
A |
7: 118,345,722 (GRCm39) |
M109K |
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 |
|
|
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 |
|
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'- CTGCATCTCACAGCATGGTG -3'
(R):5'- ACTTGAGTCAGAGGCATCGG -3'
Sequencing Primer
(F):5'- GCATGGTGCAAACTCCCTTTGG -3'
(R):5'- AGTCCCTAGGCTGTGGTCATC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation