Incidental Mutation 'R2168:Als2cl'
| ID |
235615 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Als2cl
|
| Ensembl Gene |
ENSMUSG00000044037 |
| Gene Name |
ALS2 C-terminal like |
| Synonyms |
D930044G19Rik, mRn.49018 |
| MMRRC Submission |
040171-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R2168 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
110709203-110729598 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 110717810 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Histidine
at position 301
(P301H)
|
| 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 damaging
Transcript: ENSMUST00000084926
AA Change: P301H
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000081989
Gene: ENSMUSG00000044037
AA Change: P301H
| 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 damaging
Transcript: ENSMUST00000130386
AA Change: P301H
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000123304
Gene: ENSMUSG00000044037
AA Change: P301H
| 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 damaging
Transcript: ENSMUST00000155014
AA Change: P301H
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000115718
Gene: ENSMUSG00000044037
AA Change: P301H
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200613
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acoxl |
T |
A |
2: 127,720,701 (GRCm39) |
I188N |
probably damaging |
Het |
| Akr1c14 |
T |
C |
13: 4,131,106 (GRCm39) |
V266A |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Catspere2 |
C |
T |
1: 177,843,477 (GRCm39) |
|
probably benign |
Het |
| Cpsf1 |
A |
T |
15: 76,487,937 (GRCm39) |
N53K |
possibly damaging |
Het |
| Ctsll3 |
C |
T |
13: 60,948,749 (GRCm39) |
G69R |
possibly damaging |
Het |
| F2 |
C |
T |
2: 91,458,693 (GRCm39) |
R539Q |
probably damaging |
Het |
| Fam78b |
G |
A |
1: 166,906,219 (GRCm39) |
G126D |
probably damaging |
Het |
| Fancd2 |
A |
G |
6: 113,568,120 (GRCm39) |
I1332V |
possibly damaging |
Het |
| Flg2 |
C |
T |
3: 93,109,244 (GRCm39) |
S424L |
probably damaging |
Het |
| Fpr1 |
T |
C |
17: 18,097,471 (GRCm39) |
T173A |
possibly damaging |
Het |
| Gas2l3 |
A |
G |
10: 89,249,960 (GRCm39) |
V386A |
probably benign |
Het |
| Gdap2 |
A |
C |
3: 100,095,199 (GRCm39) |
E269A |
probably benign |
Het |
| Igf2bp2 |
T |
A |
16: 21,898,358 (GRCm39) |
|
probably null |
Het |
| Ipo11 |
T |
C |
13: 107,016,118 (GRCm39) |
|
probably null |
Het |
| Itpr2 |
G |
T |
6: 146,013,176 (GRCm39) |
P2667Q |
probably benign |
Het |
| Itsn2 |
G |
T |
12: 4,683,044 (GRCm39) |
|
probably benign |
Het |
| Jakmip2 |
A |
G |
18: 43,698,995 (GRCm39) |
L488P |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,265,858 (GRCm39) |
C248S |
probably damaging |
Het |
| Lrrc17 |
A |
T |
5: 21,780,046 (GRCm39) |
D340V |
probably damaging |
Het |
| Megf9 |
T |
C |
4: 70,351,679 (GRCm39) |
T481A |
probably damaging |
Het |
| Mrc1 |
T |
C |
2: 14,249,015 (GRCm39) |
S184P |
possibly damaging |
Het |
| Msh4 |
A |
T |
3: 153,573,472 (GRCm39) |
Y533* |
probably null |
Het |
| Mug1 |
A |
G |
6: 121,847,458 (GRCm39) |
N612S |
probably benign |
Het |
| Nectin2 |
G |
T |
7: 19,464,539 (GRCm39) |
S288R |
probably damaging |
Het |
| Neurog2 |
A |
T |
3: 127,427,754 (GRCm39) |
H126L |
probably damaging |
Het |
| Nol10 |
A |
T |
12: 17,423,585 (GRCm39) |
E310V |
probably damaging |
Het |
| Or1f12 |
T |
G |
13: 21,721,422 (GRCm39) |
K251T |
probably damaging |
Het |
| Or4c29 |
A |
G |
2: 88,740,522 (GRCm39) |
S72P |
probably damaging |
Het |
| Or51h7 |
A |
T |
7: 102,591,678 (GRCm39) |
F35L |
probably benign |
Het |
| Or5h23 |
T |
A |
16: 58,905,949 (GRCm39) |
K299I |
probably benign |
Het |
| Pappa |
A |
C |
4: 65,074,682 (GRCm39) |
D412A |
probably damaging |
Het |
| Pcdhb7 |
T |
A |
18: 37,476,335 (GRCm39) |
F490L |
probably benign |
Het |
| Pcsk1 |
T |
A |
13: 75,260,653 (GRCm39) |
|
probably benign |
Het |
| Plekhn1 |
T |
A |
4: 156,306,339 (GRCm39) |
D577V |
probably damaging |
Het |
| Prrc2c |
C |
A |
1: 162,537,903 (GRCm39) |
|
probably benign |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Pzp |
G |
A |
6: 128,465,010 (GRCm39) |
T1288M |
probably damaging |
Het |
| Radil |
A |
C |
5: 142,492,718 (GRCm39) |
H63Q |
probably benign |
Het |
| Rai1 |
T |
C |
11: 60,078,422 (GRCm39) |
S829P |
probably benign |
Het |
| Rd3 |
A |
G |
1: 191,715,488 (GRCm39) |
I88V |
probably damaging |
Het |
| Rfesd |
T |
C |
13: 76,156,244 (GRCm39) |
D54G |
probably damaging |
Het |
| Rnf213 |
A |
C |
11: 119,305,896 (GRCm39) |
K568T |
probably damaging |
Het |
| Scaper |
T |
A |
9: 55,650,923 (GRCm39) |
K913N |
probably damaging |
Het |
| Serpina3c |
T |
C |
12: 104,115,628 (GRCm39) |
|
probably null |
Het |
| Serpinb6d |
A |
T |
13: 33,850,357 (GRCm39) |
K61N |
probably benign |
Het |
| Skint4 |
A |
T |
4: 111,944,183 (GRCm39) |
|
probably null |
Het |
| Sod1 |
T |
C |
16: 90,017,801 (GRCm39) |
I19T |
possibly damaging |
Het |
| Stfa3 |
C |
A |
16: 36,271,042 (GRCm39) |
G81* |
probably null |
Het |
| Ubr4 |
A |
G |
4: 139,137,960 (GRCm39) |
T1106A |
probably benign |
Het |
| Uggt2 |
T |
A |
14: 119,256,917 (GRCm39) |
N1106Y |
probably damaging |
Het |
| Vmn1r217 |
G |
A |
13: 23,298,714 (GRCm39) |
Q63* |
probably null |
Het |
| Vmn2r129 |
A |
T |
4: 156,690,673 (GRCm39) |
|
noncoding transcript |
Het |
| Vps13b |
C |
A |
15: 35,792,334 (GRCm39) |
P2201T |
probably damaging |
Het |
| Vps13b |
C |
A |
15: 35,792,335 (GRCm39) |
P2201Q |
probably damaging |
Het |
| Vps13d |
G |
T |
4: 144,813,893 (GRCm39) |
|
probably benign |
Het |
| Zer1 |
A |
G |
2: 29,994,887 (GRCm39) |
C503R |
probably damaging |
Het |
| Zfp369 |
T |
C |
13: 65,444,762 (GRCm39) |
V635A |
probably benign |
Het |
| Zfp608 |
A |
T |
18: 55,031,125 (GRCm39) |
Y938* |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACACGTTTGACCTGAAGTTG -3'
(R):5'- CGGCCTCCACTCCAATCTAATG -3'
Sequencing Primer
(F):5'- CCTGAAGTTGGTGTGGGTAAAACC -3'
(R):5'- CAATCCATTTCTGGGCCT -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation