Incidental Mutation 'R0605:Als2'
| ID |
55615 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Als2
|
| Ensembl Gene |
ENSMUSG00000026024 |
| Gene Name |
alsin Rho guanine nucleotide exchange factor |
| Synonyms |
Als2cr6, 3222402C23Rik, Alsin, 9430073A21Rik |
| MMRRC Submission |
038794-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.767)
|
| Stock # |
R0605 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
59202085-59276390 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59207573 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 1528
(L1528S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125753
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027178]
[ENSMUST00000163058]
|
| AlphaFold |
Q920R0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027178
AA Change: L1528S
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000027178
Gene: ENSMUSG00000026024
AA Change: L1528S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RCC1_2
|
93 |
122 |
1.1e-9 |
PFAM |
|
Pfam:RCC1
|
109 |
165 |
9.5e-11 |
PFAM |
|
Pfam:RCC1
|
170 |
216 |
6.6e-11 |
PFAM |
|
low complexity region
|
268 |
282 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
483 |
N/A |
INTRINSIC |
|
Pfam:RCC1
|
521 |
568 |
5.4e-13 |
PFAM |
|
Pfam:RCC1_2
|
555 |
584 |
8.3e-12 |
PFAM |
|
Pfam:RCC1
|
571 |
619 |
3.4e-11 |
PFAM |
|
Pfam:RhoGEF
|
688 |
877 |
6.5e-10 |
PFAM |
|
PH
|
895 |
1001 |
2.17e0 |
SMART |
|
MORN
|
1041 |
1062 |
1.34e-5 |
SMART |
|
MORN
|
1064 |
1085 |
1.95e-1 |
SMART |
|
MORN
|
1092 |
1113 |
6.68e-6 |
SMART |
|
MORN
|
1115 |
1136 |
9.39e0 |
SMART |
|
MORN
|
1143 |
1164 |
1.49e1 |
SMART |
|
MORN
|
1167 |
1188 |
1.13e1 |
SMART |
|
MORN
|
1190 |
1211 |
2.28e0 |
SMART |
|
MORN
|
1213 |
1235 |
5.95e1 |
SMART |
|
low complexity region
|
1470 |
1483 |
N/A |
INTRINSIC |
|
Pfam:VPS9
|
1546 |
1650 |
8.6e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163058
AA Change: L1528S
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000125753
Gene: ENSMUSG00000026024
AA Change: L1528S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RCC1_2
|
93 |
122 |
9.9e-10 |
PFAM |
|
Pfam:RCC1
|
109 |
165 |
9.5e-12 |
PFAM |
|
Pfam:RCC1
|
170 |
216 |
4.9e-12 |
PFAM |
|
low complexity region
|
268 |
282 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
483 |
N/A |
INTRINSIC |
|
Pfam:RCC1
|
521 |
568 |
4.6e-14 |
PFAM |
|
Pfam:RCC1_2
|
555 |
584 |
1.2e-11 |
PFAM |
|
Pfam:RCC1
|
571 |
619 |
8.6e-11 |
PFAM |
|
Pfam:RhoGEF
|
688 |
877 |
2.6e-10 |
PFAM |
|
PH
|
895 |
1001 |
2.17e0 |
SMART |
|
MORN
|
1041 |
1062 |
1.34e-5 |
SMART |
|
MORN
|
1064 |
1085 |
1.95e-1 |
SMART |
|
MORN
|
1092 |
1113 |
6.68e-6 |
SMART |
|
MORN
|
1115 |
1136 |
9.39e0 |
SMART |
|
MORN
|
1143 |
1164 |
1.49e1 |
SMART |
|
MORN
|
1167 |
1188 |
1.13e1 |
SMART |
|
MORN
|
1190 |
1211 |
2.28e0 |
SMART |
|
MORN
|
1213 |
1235 |
5.95e1 |
SMART |
|
low complexity region
|
1470 |
1483 |
N/A |
INTRINSIC |
|
Pfam:VPS9
|
1546 |
1650 |
1e-24 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190598
|
| Meta Mutation Damage Score |
0.1282 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.4%
|
| Validation Efficiency |
100% (85/85) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains an ATS1/RCC1-like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine-nucleotide exchange factors that activate members of the Ras superfamily of GTPases. The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5. The protein localizes with RAB5 on early endosomal compartments, and functions as a modulator for endosomal dynamics. Mutations in this gene result in several forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous null mutations in this gene may result in increased body weight, altered endosome trafficking, modest motor behavioral abnormalities, altered anxiety responses, impaired axonal transport, and mild neurolopathogical deficits including axonal degeneration in the corticospinal tract. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933406P04Rik |
G |
A |
10: 20,186,973 (GRCm39) |
|
probably benign |
Het |
| Adam28 |
A |
T |
14: 68,844,049 (GRCm39) |
|
probably benign |
Het |
| Adamts3 |
A |
G |
5: 90,009,334 (GRCm39) |
W110R |
possibly damaging |
Het |
| Add1 |
T |
C |
5: 34,771,568 (GRCm39) |
V342A |
possibly damaging |
Het |
| Aff3 |
A |
G |
1: 38,249,068 (GRCm39) |
S680P |
probably damaging |
Het |
| Ak9 |
T |
C |
10: 41,221,135 (GRCm39) |
Y322H |
probably damaging |
Het |
| Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
| Atp6v1a |
A |
C |
16: 43,931,859 (GRCm39) |
|
probably null |
Het |
| Bpi |
T |
C |
2: 158,103,314 (GRCm39) |
L103P |
probably damaging |
Het |
| Cd80 |
G |
A |
16: 38,303,056 (GRCm39) |
V168I |
probably benign |
Het |
| Cfh |
T |
C |
1: 140,030,096 (GRCm39) |
S926G |
probably damaging |
Het |
| Chrd |
A |
T |
16: 20,554,189 (GRCm39) |
T304S |
probably damaging |
Het |
| Chsy3 |
A |
G |
18: 59,542,125 (GRCm39) |
Y421C |
probably damaging |
Het |
| Cmbl |
T |
G |
15: 31,585,455 (GRCm39) |
V101G |
probably damaging |
Het |
| Colgalt2 |
T |
A |
1: 152,371,543 (GRCm39) |
|
probably benign |
Het |
| Coq4 |
C |
T |
2: 29,680,010 (GRCm39) |
Q101* |
probably null |
Het |
| Cr2 |
T |
C |
1: 194,845,904 (GRCm39) |
|
probably benign |
Het |
| Cry1 |
T |
C |
10: 85,020,223 (GRCm39) |
D38G |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,327,229 (GRCm39) |
D758G |
probably benign |
Het |
| Epsti1 |
C |
T |
14: 78,164,677 (GRCm39) |
|
probably benign |
Het |
| Fam24b |
T |
C |
7: 130,928,915 (GRCm39) |
|
probably benign |
Het |
| Fem1c |
G |
A |
18: 46,638,227 (GRCm39) |
R592C |
probably benign |
Het |
| Foxred1 |
T |
C |
9: 35,116,178 (GRCm39) |
Y490C |
possibly damaging |
Het |
| Gm9875 |
A |
G |
2: 13,562,699 (GRCm39) |
K9R |
unknown |
Het |
| Grid2ip |
T |
C |
5: 143,365,117 (GRCm39) |
S322P |
probably damaging |
Het |
| Gucy1b2 |
A |
G |
14: 62,640,608 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,533,127 (GRCm39) |
|
probably null |
Het |
| Hpdl |
C |
T |
4: 116,677,984 (GRCm39) |
S159N |
possibly damaging |
Het |
| Hsd17b12 |
A |
T |
2: 93,863,987 (GRCm39) |
M285K |
probably benign |
Het |
| Icam5 |
T |
C |
9: 20,943,493 (GRCm39) |
I23T |
probably benign |
Het |
| Kat5 |
A |
G |
19: 5,658,364 (GRCm39) |
|
probably benign |
Het |
| Lama3 |
A |
G |
18: 12,640,006 (GRCm39) |
N67S |
probably benign |
Het |
| Lamb2 |
T |
C |
9: 108,363,304 (GRCm39) |
|
probably benign |
Het |
| Lgals3bp |
A |
G |
11: 118,284,220 (GRCm39) |
F453S |
probably damaging |
Het |
| Lypd4 |
A |
G |
7: 24,564,800 (GRCm39) |
Y113H |
probably damaging |
Het |
| Mdm1 |
C |
T |
10: 117,982,506 (GRCm39) |
T47M |
probably damaging |
Het |
| Mei1 |
C |
A |
15: 81,954,351 (GRCm39) |
T52K |
probably benign |
Het |
| Meiob |
G |
A |
17: 25,037,236 (GRCm39) |
|
probably benign |
Het |
| Ndufaf6 |
A |
G |
4: 11,051,224 (GRCm39) |
V292A |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,154,038 (GRCm39) |
M2358L |
possibly damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,047,005 (GRCm39) |
S1119P |
possibly damaging |
Het |
| Nsmaf |
A |
G |
4: 6,418,470 (GRCm39) |
|
probably null |
Het |
| Ogfod1 |
T |
C |
8: 94,773,895 (GRCm39) |
|
probably benign |
Het |
| Or5ae2 |
T |
C |
7: 84,506,345 (GRCm39) |
I256T |
probably damaging |
Het |
| Or8h7 |
T |
C |
2: 86,720,763 (GRCm39) |
Y252C |
possibly damaging |
Het |
| Or9s14 |
G |
T |
1: 92,535,618 (GRCm39) |
V20L |
probably benign |
Het |
| Osbpl1a |
T |
A |
18: 13,015,336 (GRCm39) |
|
probably null |
Het |
| Otud7b |
T |
A |
3: 96,052,270 (GRCm39) |
|
probably benign |
Het |
| P3h3 |
T |
A |
6: 124,832,998 (GRCm39) |
H185L |
probably damaging |
Het |
| P4htm |
G |
A |
9: 108,460,923 (GRCm39) |
A183V |
probably null |
Het |
| Peak1 |
C |
T |
9: 56,134,382 (GRCm39) |
|
probably benign |
Het |
| Phf20l1 |
A |
G |
15: 66,466,971 (GRCm39) |
K88R |
probably damaging |
Het |
| Phlpp2 |
A |
G |
8: 110,659,843 (GRCm39) |
N721S |
probably benign |
Het |
| Plagl2 |
T |
C |
2: 153,077,864 (GRCm39) |
K39R |
probably benign |
Het |
| Plppr1 |
A |
T |
4: 49,323,466 (GRCm39) |
N252I |
probably damaging |
Het |
| Pom121l2 |
C |
T |
13: 22,166,206 (GRCm39) |
A159V |
probably damaging |
Het |
| Prom2 |
C |
A |
2: 127,381,915 (GRCm39) |
|
probably null |
Het |
| Prrc2c |
T |
C |
1: 162,509,995 (GRCm39) |
T1017A |
probably damaging |
Het |
| Rimbp3 |
G |
T |
16: 17,029,563 (GRCm39) |
A996S |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,322,543 (GRCm39) |
T1387A |
probably benign |
Het |
| Scaper |
A |
T |
9: 55,722,802 (GRCm39) |
|
probably benign |
Het |
| Scara5 |
A |
G |
14: 65,997,097 (GRCm39) |
E403G |
possibly damaging |
Het |
| Scrib |
T |
C |
15: 75,939,402 (GRCm39) |
I94V |
possibly damaging |
Het |
| Shank3 |
T |
C |
15: 89,408,350 (GRCm39) |
F67L |
possibly damaging |
Het |
| Shprh |
T |
C |
10: 11,082,856 (GRCm39) |
F1562L |
probably damaging |
Het |
| Src |
C |
T |
2: 157,311,841 (GRCm39) |
T529M |
probably damaging |
Het |
| Sycp2l |
T |
A |
13: 41,296,942 (GRCm39) |
M341K |
probably benign |
Het |
| Syde1 |
T |
C |
10: 78,424,929 (GRCm39) |
|
probably benign |
Het |
| Tars3 |
A |
T |
7: 65,327,819 (GRCm39) |
R509S |
probably damaging |
Het |
| Tle6 |
T |
A |
10: 81,430,180 (GRCm39) |
H324L |
probably damaging |
Het |
| Tnfaip8 |
ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
18: 50,179,912 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf14 |
T |
A |
4: 155,009,837 (GRCm39) |
K115* |
probably null |
Het |
| Trappc10 |
T |
C |
10: 78,037,331 (GRCm39) |
N824S |
possibly damaging |
Het |
| Tsc1 |
C |
T |
2: 28,561,790 (GRCm39) |
S309F |
probably damaging |
Het |
| Ttc21a |
A |
G |
9: 119,790,908 (GRCm39) |
I885V |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,570,797 (GRCm39) |
A26699T |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,778,715 (GRCm39) |
Y1262C |
unknown |
Het |
| Usp49 |
T |
C |
17: 47,985,851 (GRCm39) |
|
probably null |
Het |
| Vmn1r226 |
A |
T |
17: 20,908,133 (GRCm39) |
T122S |
probably benign |
Het |
| Vps8 |
A |
T |
16: 21,378,087 (GRCm39) |
T1033S |
probably benign |
Het |
| Vwf |
C |
A |
6: 125,662,800 (GRCm39) |
T2728K |
probably benign |
Het |
| Wdr5b |
T |
C |
16: 35,862,366 (GRCm39) |
S162P |
probably benign |
Het |
| Xrn1 |
C |
T |
9: 95,908,930 (GRCm39) |
Q1235* |
probably null |
Het |
| Zfp1005 |
A |
G |
2: 150,110,523 (GRCm39) |
I404M |
unknown |
Het |
|
| Other mutations in Als2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00772:Als2
|
APN |
1 |
59,209,055 (GRCm39) |
nonsense |
probably null |
|
|
IGL00924:Als2
|
APN |
1 |
59,255,021 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL00949:Als2
|
APN |
1 |
59,254,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00950:Als2
|
APN |
1 |
59,254,541 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01090:Als2
|
APN |
1 |
59,254,775 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL01116:Als2
|
APN |
1 |
59,225,163 (GRCm39) |
splice site |
probably benign |
|
|
IGL02001:Als2
|
APN |
1 |
59,219,347 (GRCm39) |
splice site |
probably benign |
|
|
IGL02075:Als2
|
APN |
1 |
59,246,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02441:Als2
|
APN |
1 |
59,254,631 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02728:Als2
|
APN |
1 |
59,235,506 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02740:Als2
|
APN |
1 |
59,209,078 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02885:Als2
|
APN |
1 |
59,206,650 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02896:Als2
|
APN |
1 |
59,222,946 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02978:Als2
|
APN |
1 |
59,254,324 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL03032:Als2
|
APN |
1 |
59,255,189 (GRCm39) |
splice site |
probably benign |
|
|
IGL03065:Als2
|
APN |
1 |
59,255,031 (GRCm39) |
missense |
probably benign |
|
|
IGL03212:Als2
|
APN |
1 |
59,242,085 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03226:Als2
|
APN |
1 |
59,225,679 (GRCm39) |
missense |
probably benign |
0.43 |
|
R0014:Als2
|
UTSW |
1 |
59,250,547 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0243:Als2
|
UTSW |
1 |
59,254,546 (GRCm39) |
missense |
probably benign |
|
|
R0326:Als2
|
UTSW |
1 |
59,219,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0376:Als2
|
UTSW |
1 |
59,254,724 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1607:Als2
|
UTSW |
1 |
59,219,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1631:Als2
|
UTSW |
1 |
59,257,226 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1657:Als2
|
UTSW |
1 |
59,219,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1763:Als2
|
UTSW |
1 |
59,214,150 (GRCm39) |
missense |
probably benign |
|
|
R1950:Als2
|
UTSW |
1 |
59,224,760 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1970:Als2
|
UTSW |
1 |
59,254,328 (GRCm39) |
missense |
probably benign |
0.34 |
|
R2151:Als2
|
UTSW |
1 |
59,246,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2292:Als2
|
UTSW |
1 |
59,226,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2513:Als2
|
UTSW |
1 |
59,254,276 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2849:Als2
|
UTSW |
1 |
59,245,697 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2869:Als2
|
UTSW |
1 |
59,250,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2869:Als2
|
UTSW |
1 |
59,250,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2870:Als2
|
UTSW |
1 |
59,250,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2870:Als2
|
UTSW |
1 |
59,250,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2872:Als2
|
UTSW |
1 |
59,250,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2872:Als2
|
UTSW |
1 |
59,250,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2873:Als2
|
UTSW |
1 |
59,250,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3054:Als2
|
UTSW |
1 |
59,254,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3081:Als2
|
UTSW |
1 |
59,226,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3176:Als2
|
UTSW |
1 |
59,209,167 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3276:Als2
|
UTSW |
1 |
59,209,167 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3801:Als2
|
UTSW |
1 |
59,206,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3803:Als2
|
UTSW |
1 |
59,206,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3808:Als2
|
UTSW |
1 |
59,209,609 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3884:Als2
|
UTSW |
1 |
59,224,727 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4012:Als2
|
UTSW |
1 |
59,226,575 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4033:Als2
|
UTSW |
1 |
59,235,400 (GRCm39) |
missense |
probably benign |
|
|
R4201:Als2
|
UTSW |
1 |
59,219,313 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4321:Als2
|
UTSW |
1 |
59,206,613 (GRCm39) |
splice site |
probably benign |
|
|
R4707:Als2
|
UTSW |
1 |
59,254,472 (GRCm39) |
missense |
probably benign |
|
|
R4784:Als2
|
UTSW |
1 |
59,254,472 (GRCm39) |
missense |
probably benign |
|
|
R4785:Als2
|
UTSW |
1 |
59,254,472 (GRCm39) |
missense |
probably benign |
|
|
R4991:Als2
|
UTSW |
1 |
59,246,927 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5068:Als2
|
UTSW |
1 |
59,250,433 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5110:Als2
|
UTSW |
1 |
59,224,600 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5141:Als2
|
UTSW |
1 |
59,209,611 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5394:Als2
|
UTSW |
1 |
59,214,105 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5621:Als2
|
UTSW |
1 |
59,231,049 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5685:Als2
|
UTSW |
1 |
59,218,250 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5987:Als2
|
UTSW |
1 |
59,245,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6012:Als2
|
UTSW |
1 |
59,224,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6118:Als2
|
UTSW |
1 |
59,242,228 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6222:Als2
|
UTSW |
1 |
59,219,284 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6367:Als2
|
UTSW |
1 |
59,238,299 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6394:Als2
|
UTSW |
1 |
59,206,356 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6866:Als2
|
UTSW |
1 |
59,250,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6965:Als2
|
UTSW |
1 |
59,209,716 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7038:Als2
|
UTSW |
1 |
59,206,673 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7178:Als2
|
UTSW |
1 |
59,246,971 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7494:Als2
|
UTSW |
1 |
59,222,325 (GRCm39) |
splice site |
probably null |
|
|
R7541:Als2
|
UTSW |
1 |
59,206,775 (GRCm39) |
splice site |
probably null |
|
|
R7601:Als2
|
UTSW |
1 |
59,209,161 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8380:Als2
|
UTSW |
1 |
59,250,467 (GRCm39) |
missense |
probably benign |
|
|
R8478:Als2
|
UTSW |
1 |
59,225,175 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8492:Als2
|
UTSW |
1 |
59,250,503 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9048:Als2
|
UTSW |
1 |
59,225,670 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9090:Als2
|
UTSW |
1 |
59,242,189 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9128:Als2
|
UTSW |
1 |
59,219,709 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9206:Als2
|
UTSW |
1 |
59,224,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9271:Als2
|
UTSW |
1 |
59,242,189 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9430:Als2
|
UTSW |
1 |
59,231,198 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9455:Als2
|
UTSW |
1 |
59,219,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9482:Als2
|
UTSW |
1 |
59,231,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9494:Als2
|
UTSW |
1 |
59,206,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9544:Als2
|
UTSW |
1 |
59,250,468 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9796:Als2
|
UTSW |
1 |
59,209,601 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAGCACACAGATAAATCTCCAGGCA -3'
(R):5'- tcccaGCCAGATATAGTTTCTTCTCAGG -3'
Sequencing Primer
(F):5'- ACATGAGGCATTACCTGATCTGC -3'
(R):5'- AAGCCATTTCCAGGATGTTTAC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation