Incidental Mutation 'R1834:Agl'
| ID |
205026 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Agl
|
| Ensembl Gene |
ENSMUSG00000033400 |
| Gene Name |
amylo-1,6-glucosidase, 4-alpha-glucanotransferase |
| Synonyms |
9430004C13Rik, 9630046L06Rik, 1110061O17Rik |
| MMRRC Submission |
039861-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.360)
|
| Stock # |
R1834 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
116533648-116601815 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 116582000 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 293
(F293S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124149
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040603]
[ENSMUST00000159670]
[ENSMUST00000159742]
[ENSMUST00000161336]
[ENSMUST00000162792]
|
| AlphaFold |
F8VPN4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040603
AA Change: F293S
PolyPhen 2
Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000044012
Gene: ENSMUSG00000033400
AA Change: F293S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:hGDE_N
|
31 |
116 |
4.8e-24 |
PFAM |
|
Pfam:hDGE_amylase
|
120 |
550 |
9.6e-167 |
PFAM |
|
Pfam:hGDE_central
|
697 |
974 |
2e-90 |
PFAM |
|
Pfam:GDE_C
|
1044 |
1527 |
8.5e-145 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159670
|
| SMART Domains |
Protein: ENSMUSP00000124840
Gene: ENSMUSG00000033400
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:hGDE_N
|
30 |
117 |
7.9e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159742
AA Change: F293S
PolyPhen 2
Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000143582
Gene: ENSMUSG00000033400
AA Change: F293S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:hGDE_N
|
31 |
116 |
2.1e-20 |
PFAM |
|
Pfam:hDGE_amylase
|
120 |
550 |
7.8e-164 |
PFAM |
|
Pfam:hGDE_central
|
697 |
974 |
6.2e-87 |
PFAM |
|
Pfam:GDE_C
|
1043 |
1279 |
6.7e-61 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161336
|
| SMART Domains |
Protein: ENSMUSP00000123877
Gene: ENSMUSG00000033400
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:hGDE_N
|
30 |
117 |
2.1e-29 |
PFAM |
|
Pfam:hDGE_amylase
|
120 |
230 |
3.7e-43 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162040
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162792
AA Change: F293S
PolyPhen 2
Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000124149
Gene: ENSMUSG00000033400
AA Change: F293S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:hGDE_N
|
30 |
117 |
4e-28 |
PFAM |
|
Pfam:hDGE_amylase
|
120 |
550 |
1.4e-167 |
PFAM |
|
Pfam:hGDE_central
|
697 |
975 |
5.6e-95 |
PFAM |
|
Pfam:GDE_C
|
1061 |
1527 |
1.1e-137 |
PFAM |
|
| Meta Mutation Damage Score |
0.1405 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 92.0%
|
| Validation Efficiency |
97% (116/119) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to hypoglycemia, altered blood biochemistry, severe hepatomegaly, glycogen accumulation in the liver, heart, skeletal muscle and other tissues, motor impairment, and premature death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 114 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310033P09Rik |
A |
G |
11: 59,099,313 (GRCm39) |
D20G |
probably damaging |
Het |
| 2310061N02Rik |
T |
A |
16: 88,504,786 (GRCm39) |
S4C |
unknown |
Het |
| Abca3 |
A |
T |
17: 24,595,666 (GRCm39) |
N340Y |
probably benign |
Het |
| Abcc1 |
A |
G |
16: 14,240,981 (GRCm39) |
I513V |
possibly damaging |
Het |
| Acacb |
C |
T |
5: 114,373,536 (GRCm39) |
T1855M |
probably damaging |
Het |
| Ace |
A |
G |
11: 105,876,920 (GRCm39) |
|
probably benign |
Het |
| Acss2 |
T |
A |
2: 155,400,550 (GRCm39) |
Y530N |
probably damaging |
Het |
| Adarb1 |
C |
A |
10: 77,153,065 (GRCm39) |
|
probably benign |
Het |
| Afm |
T |
A |
5: 90,674,283 (GRCm39) |
M265K |
probably benign |
Het |
| Aox1 |
G |
A |
1: 58,348,150 (GRCm39) |
A623T |
probably benign |
Het |
| Arhgap31 |
C |
A |
16: 38,424,065 (GRCm39) |
S667I |
probably benign |
Het |
| Bco1 |
A |
G |
8: 117,844,176 (GRCm39) |
T297A |
probably benign |
Het |
| Bmp1 |
T |
C |
14: 70,746,271 (GRCm39) |
S123G |
possibly damaging |
Het |
| Caps2 |
G |
A |
10: 112,031,623 (GRCm39) |
D283N |
possibly damaging |
Het |
| Ccdc57 |
A |
C |
11: 120,752,045 (GRCm39) |
S845R |
probably benign |
Het |
| Cd209f |
A |
G |
8: 4,154,491 (GRCm39) |
S119P |
probably damaging |
Het |
| Chrna6 |
A |
G |
8: 27,897,242 (GRCm39) |
S212P |
probably benign |
Het |
| Col10a1 |
G |
C |
10: 34,271,011 (GRCm39) |
A328P |
probably damaging |
Het |
| Col4a2 |
A |
G |
8: 11,452,997 (GRCm39) |
E188G |
probably benign |
Het |
| Creb1 |
C |
T |
1: 64,590,109 (GRCm39) |
Q32* |
probably null |
Het |
| Cttnbp2 |
C |
T |
6: 18,501,965 (GRCm39) |
V16M |
probably damaging |
Het |
| D430041D05Rik |
A |
G |
2: 103,998,446 (GRCm39) |
S1102P |
probably damaging |
Het |
| Ddx31 |
C |
T |
2: 28,782,465 (GRCm39) |
H603Y |
probably damaging |
Het |
| Ddx52 |
G |
A |
11: 83,850,323 (GRCm39) |
C568Y |
probably benign |
Het |
| Dgki |
C |
A |
6: 37,011,636 (GRCm39) |
|
probably benign |
Het |
| Dmrt1 |
A |
T |
19: 25,487,063 (GRCm39) |
Q123L |
probably damaging |
Het |
| Dnah5 |
A |
T |
15: 28,409,270 (GRCm39) |
M3563L |
probably benign |
Het |
| Dnah7b |
A |
T |
1: 46,272,919 (GRCm39) |
N2349I |
possibly damaging |
Het |
| Dscaml1 |
T |
G |
9: 45,594,930 (GRCm39) |
S678A |
probably benign |
Het |
| Ece1 |
C |
T |
4: 137,685,312 (GRCm39) |
R601W |
probably damaging |
Het |
| Ece1 |
A |
G |
4: 137,685,439 (GRCm39) |
N643S |
probably damaging |
Het |
| Eno1b |
A |
G |
18: 48,180,530 (GRCm39) |
Y236C |
probably damaging |
Het |
| Esco1 |
T |
C |
18: 10,594,350 (GRCm39) |
E312G |
probably damaging |
Het |
| Eya3 |
T |
A |
4: 132,434,429 (GRCm39) |
V276E |
probably damaging |
Het |
| Fam161b |
A |
G |
12: 84,395,552 (GRCm39) |
|
probably benign |
Het |
| Fem1c |
C |
T |
18: 46,638,349 (GRCm39) |
G551D |
probably damaging |
Het |
| Fer1l6 |
T |
C |
15: 58,429,718 (GRCm39) |
I155T |
possibly damaging |
Het |
| Gbp7 |
A |
G |
3: 142,240,441 (GRCm39) |
Y53C |
probably damaging |
Het |
| Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
| Gm10030 |
C |
T |
9: 110,833,947 (GRCm39) |
|
noncoding transcript |
Het |
| Gm3443 |
T |
A |
19: 21,533,043 (GRCm39) |
H2Q |
unknown |
Het |
| Gm5800 |
T |
C |
14: 51,953,549 (GRCm39) |
E22G |
possibly damaging |
Het |
| Gsdma2 |
G |
T |
11: 98,539,905 (GRCm39) |
R9L |
probably damaging |
Het |
| Gvin3 |
A |
T |
7: 106,202,983 (GRCm39) |
V87D |
possibly damaging |
Het |
| Ica1l |
A |
G |
1: 60,067,395 (GRCm39) |
|
probably benign |
Het |
| Ice1 |
G |
A |
13: 70,763,457 (GRCm39) |
T167I |
probably damaging |
Het |
| Ifi204 |
T |
A |
1: 173,575,172 (GRCm39) |
R618S |
unknown |
Het |
| Itga2 |
C |
A |
13: 114,993,262 (GRCm39) |
K784N |
probably damaging |
Het |
| Itga2 |
T |
A |
13: 114,993,263 (GRCm39) |
K784M |
probably damaging |
Het |
| Kif3b |
A |
G |
2: 153,159,405 (GRCm39) |
E402G |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,297,224 (GRCm39) |
I3246V |
probably benign |
Het |
| Lrrn3 |
G |
T |
12: 41,503,517 (GRCm39) |
L267I |
probably damaging |
Het |
| Map1s |
A |
G |
8: 71,369,055 (GRCm39) |
Y868C |
probably damaging |
Het |
| Mcm5 |
A |
G |
8: 75,845,901 (GRCm39) |
T370A |
possibly damaging |
Het |
| Nat8f7 |
T |
C |
6: 85,684,793 (GRCm39) |
S16G |
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,555,883 (GRCm39) |
T1683A |
probably damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,456,197 (GRCm39) |
N2417S |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,126,907 (GRCm39) |
N3605S |
probably damaging |
Het |
| Net1 |
A |
T |
13: 3,962,941 (GRCm39) |
|
probably benign |
Het |
| Nsd1 |
A |
G |
13: 55,461,164 (GRCm39) |
T2464A |
possibly damaging |
Het |
| Nt5e |
T |
A |
9: 88,252,240 (GRCm39) |
I534N |
probably damaging |
Het |
| Nudt12 |
T |
A |
17: 59,318,071 (GRCm39) |
H58L |
probably damaging |
Het |
| Ocrl |
T |
A |
X: 47,050,993 (GRCm39) |
I74N |
probably damaging |
Het |
| Or1a1 |
A |
G |
11: 74,086,479 (GRCm39) |
H50R |
probably benign |
Het |
| Or2ag13 |
A |
G |
7: 106,473,348 (GRCm39) |
Y35H |
probably damaging |
Het |
| Or5ae2 |
A |
G |
7: 84,505,690 (GRCm39) |
T38A |
probably damaging |
Het |
| Or9k2b |
A |
G |
10: 130,016,701 (GRCm39) |
I16T |
probably benign |
Het |
| Pef1 |
C |
A |
4: 130,014,966 (GRCm39) |
C10* |
probably null |
Het |
| Phf21b |
A |
G |
15: 84,681,547 (GRCm39) |
Y256H |
probably damaging |
Het |
| Phox2a |
G |
T |
7: 101,470,152 (GRCm39) |
|
probably null |
Het |
| Pi16 |
A |
G |
17: 29,546,419 (GRCm39) |
E399G |
possibly damaging |
Het |
| Pipox |
A |
T |
11: 77,772,949 (GRCm39) |
Y321N |
probably damaging |
Het |
| Plin4 |
A |
G |
17: 56,410,522 (GRCm39) |
S1170P |
probably damaging |
Het |
| Pnma2 |
C |
T |
14: 67,154,662 (GRCm39) |
S362L |
possibly damaging |
Het |
| Ppp1r9a |
T |
C |
6: 5,113,710 (GRCm39) |
I738T |
probably damaging |
Het |
| Prkcsh |
A |
T |
9: 21,919,634 (GRCm39) |
K188M |
probably damaging |
Het |
| Rcc1l |
A |
T |
5: 134,192,498 (GRCm39) |
Y309N |
probably damaging |
Het |
| Ripk1 |
A |
G |
13: 34,199,196 (GRCm39) |
T123A |
probably benign |
Het |
| Robo4 |
A |
G |
9: 37,324,355 (GRCm39) |
D961G |
probably benign |
Het |
| Rps27a |
A |
G |
11: 29,496,299 (GRCm39) |
Y105H |
probably benign |
Het |
| Scaper |
A |
G |
9: 55,724,018 (GRCm39) |
Y641H |
possibly damaging |
Het |
| Scn1a |
C |
A |
2: 66,154,960 (GRCm39) |
Q666H |
probably benign |
Het |
| Scn1a |
T |
A |
2: 66,154,961 (GRCm39) |
Q666L |
probably benign |
Het |
| Sdhaf4 |
T |
C |
1: 24,042,234 (GRCm39) |
|
probably null |
Het |
| Sec14l3 |
A |
G |
11: 4,016,510 (GRCm39) |
|
probably benign |
Het |
| Selp |
C |
A |
1: 163,955,729 (GRCm39) |
|
probably null |
Het |
| Sim1 |
A |
G |
10: 50,785,924 (GRCm39) |
D259G |
probably damaging |
Het |
| Sptan1 |
T |
A |
2: 29,882,013 (GRCm39) |
|
probably benign |
Het |
| Sptbn4 |
T |
A |
7: 27,066,071 (GRCm39) |
E679V |
probably null |
Het |
| Sytl3 |
G |
A |
17: 6,995,726 (GRCm39) |
E169K |
probably benign |
Het |
| Taar1 |
T |
C |
10: 23,797,087 (GRCm39) |
C262R |
probably benign |
Het |
| Taf7l2 |
T |
C |
10: 115,948,570 (GRCm39) |
R319G |
probably benign |
Het |
| Tbc1d32 |
A |
G |
10: 55,893,700 (GRCm39) |
I1291T |
probably benign |
Het |
| Tet1 |
G |
A |
10: 62,649,444 (GRCm39) |
P89S |
probably damaging |
Het |
| Tgfbrap1 |
C |
A |
1: 43,110,795 (GRCm39) |
G7W |
probably damaging |
Het |
| Thada |
A |
G |
17: 84,533,432 (GRCm39) |
V1673A |
possibly damaging |
Het |
| Thbs4 |
A |
G |
13: 92,897,989 (GRCm39) |
V610A |
probably benign |
Het |
| Tmem163 |
A |
G |
1: 127,605,246 (GRCm39) |
S41P |
probably benign |
Het |
| Tmem65 |
A |
T |
15: 58,658,962 (GRCm39) |
H200Q |
probably damaging |
Het |
| Trgc3 |
A |
G |
13: 19,447,535 (GRCm39) |
T163A |
possibly damaging |
Het |
| Trim62 |
T |
C |
4: 128,803,018 (GRCm39) |
V356A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,562,502 (GRCm39) |
D28781G |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,593,604 (GRCm39) |
V20679I |
probably benign |
Het |
| Tut7 |
A |
T |
13: 59,962,749 (GRCm39) |
Y339* |
probably null |
Het |
| Unc80 |
A |
T |
1: 66,678,407 (GRCm39) |
T2063S |
possibly damaging |
Het |
| Vav3 |
A |
G |
3: 109,413,742 (GRCm39) |
T227A |
probably benign |
Het |
| Vmn2r118 |
A |
T |
17: 55,899,456 (GRCm39) |
I816N |
probably damaging |
Het |
| Vmn2r26 |
T |
A |
6: 124,038,369 (GRCm39) |
M648K |
possibly damaging |
Het |
| Vmn2r88 |
T |
G |
14: 51,650,487 (GRCm39) |
|
probably benign |
Het |
| Vwa3a |
A |
G |
7: 120,389,359 (GRCm39) |
T66A |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,341,484 (GRCm39) |
Y1242N |
probably damaging |
Het |
| Ywhag |
G |
A |
5: 135,940,384 (GRCm39) |
T70M |
probably damaging |
Het |
| Zfp248 |
T |
C |
6: 118,405,931 (GRCm39) |
T452A |
probably damaging |
Het |
| Zfp988 |
A |
T |
4: 147,417,344 (GRCm39) |
I593F |
probably damaging |
Het |
|
| Other mutations in Agl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00235:Agl
|
APN |
3 |
116,565,132 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL00500:Agl
|
APN |
3 |
116,566,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00691:Agl
|
APN |
3 |
116,572,907 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL00711:Agl
|
APN |
3 |
116,587,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01291:Agl
|
APN |
3 |
116,566,438 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL01641:Agl
|
APN |
3 |
116,578,104 (GRCm39) |
nonsense |
probably null |
|
|
IGL01860:Agl
|
APN |
3 |
116,566,175 (GRCm39) |
splice site |
probably benign |
|
|
IGL01893:Agl
|
APN |
3 |
116,582,198 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02193:Agl
|
APN |
3 |
116,572,815 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02379:Agl
|
APN |
3 |
116,572,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02485:Agl
|
APN |
3 |
116,572,729 (GRCm39) |
missense |
probably benign |
|
|
IGL02644:Agl
|
APN |
3 |
116,580,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02673:Agl
|
APN |
3 |
116,575,248 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02693:Agl
|
APN |
3 |
116,540,077 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02733:Agl
|
APN |
3 |
116,574,646 (GRCm39) |
missense |
probably benign |
|
|
IGL03089:Agl
|
APN |
3 |
116,574,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03271:Agl
|
APN |
3 |
116,572,776 (GRCm39) |
missense |
probably benign |
0.00 |
|
ANU05:Agl
|
UTSW |
3 |
116,566,438 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
PIT4445001:Agl
|
UTSW |
3 |
116,565,109 (GRCm39) |
missense |
|
|
|
R0013:Agl
|
UTSW |
3 |
116,570,257 (GRCm39) |
nonsense |
probably null |
|
|
R0013:Agl
|
UTSW |
3 |
116,570,257 (GRCm39) |
nonsense |
probably null |
|
|
R0022:Agl
|
UTSW |
3 |
116,587,485 (GRCm39) |
splice site |
probably null |
|
|
R0092:Agl
|
UTSW |
3 |
116,587,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0226:Agl
|
UTSW |
3 |
116,545,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0440:Agl
|
UTSW |
3 |
116,552,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0488:Agl
|
UTSW |
3 |
116,548,611 (GRCm39) |
nonsense |
probably null |
|
|
R0504:Agl
|
UTSW |
3 |
116,580,433 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0689:Agl
|
UTSW |
3 |
116,587,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0715:Agl
|
UTSW |
3 |
116,545,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0893:Agl
|
UTSW |
3 |
116,546,935 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1403:Agl
|
UTSW |
3 |
116,576,246 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1403:Agl
|
UTSW |
3 |
116,576,246 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1432:Agl
|
UTSW |
3 |
116,540,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1465:Agl
|
UTSW |
3 |
116,565,021 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1465:Agl
|
UTSW |
3 |
116,565,021 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1540:Agl
|
UTSW |
3 |
116,574,384 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1624:Agl
|
UTSW |
3 |
116,580,895 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1640:Agl
|
UTSW |
3 |
116,545,739 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1853:Agl
|
UTSW |
3 |
116,572,971 (GRCm39) |
nonsense |
probably null |
|
|
R2004:Agl
|
UTSW |
3 |
116,574,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2184:Agl
|
UTSW |
3 |
116,574,426 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2227:Agl
|
UTSW |
3 |
116,581,961 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R3053:Agl
|
UTSW |
3 |
116,584,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4181:Agl
|
UTSW |
3 |
116,540,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4241:Agl
|
UTSW |
3 |
116,548,497 (GRCm39) |
intron |
probably benign |
|
|
R4284:Agl
|
UTSW |
3 |
116,545,827 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4285:Agl
|
UTSW |
3 |
116,545,827 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4302:Agl
|
UTSW |
3 |
116,540,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4791:Agl
|
UTSW |
3 |
116,580,177 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4854:Agl
|
UTSW |
3 |
116,572,267 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4968:Agl
|
UTSW |
3 |
116,582,175 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5075:Agl
|
UTSW |
3 |
116,587,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5219:Agl
|
UTSW |
3 |
116,572,370 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5274:Agl
|
UTSW |
3 |
116,566,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5347:Agl
|
UTSW |
3 |
116,584,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5399:Agl
|
UTSW |
3 |
116,575,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5511:Agl
|
UTSW |
3 |
116,582,209 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5763:Agl
|
UTSW |
3 |
116,547,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5827:Agl
|
UTSW |
3 |
116,574,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5964:Agl
|
UTSW |
3 |
116,587,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5967:Agl
|
UTSW |
3 |
116,587,357 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5986:Agl
|
UTSW |
3 |
116,566,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6127:Agl
|
UTSW |
3 |
116,551,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6209:Agl
|
UTSW |
3 |
116,578,845 (GRCm39) |
nonsense |
probably null |
|
|
R6252:Agl
|
UTSW |
3 |
116,580,878 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6337:Agl
|
UTSW |
3 |
116,580,426 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6366:Agl
|
UTSW |
3 |
116,584,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6441:Agl
|
UTSW |
3 |
116,565,108 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6647:Agl
|
UTSW |
3 |
116,544,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6678:Agl
|
UTSW |
3 |
116,546,969 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6736:Agl
|
UTSW |
3 |
116,575,329 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7141:Agl
|
UTSW |
3 |
116,546,935 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7143:Agl
|
UTSW |
3 |
116,585,670 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7204:Agl
|
UTSW |
3 |
116,587,469 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7259:Agl
|
UTSW |
3 |
116,578,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7393:Agl
|
UTSW |
3 |
116,584,805 (GRCm39) |
missense |
probably benign |
|
|
R7426:Agl
|
UTSW |
3 |
116,552,404 (GRCm39) |
missense |
|
|
|
R7559:Agl
|
UTSW |
3 |
116,545,764 (GRCm39) |
missense |
|
|
|
R7587:Agl
|
UTSW |
3 |
116,585,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7609:Agl
|
UTSW |
3 |
116,600,928 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7657:Agl
|
UTSW |
3 |
116,572,812 (GRCm39) |
missense |
|
|
|
R7715:Agl
|
UTSW |
3 |
116,551,905 (GRCm39) |
missense |
|
|
|
R7735:Agl
|
UTSW |
3 |
116,578,795 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7770:Agl
|
UTSW |
3 |
116,551,886 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7980:Agl
|
UTSW |
3 |
116,585,830 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8186:Agl
|
UTSW |
3 |
116,552,557 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8215:Agl
|
UTSW |
3 |
116,582,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8336:Agl
|
UTSW |
3 |
116,566,495 (GRCm39) |
missense |
|
|
|
R8709:Agl
|
UTSW |
3 |
116,566,121 (GRCm39) |
missense |
|
|
|
R9545:Agl
|
UTSW |
3 |
116,582,338 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
X0065:Agl
|
UTSW |
3 |
116,574,979 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Agl
|
UTSW |
3 |
116,574,685 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAGTTTTGTAGTCTAAACACACG -3'
(R):5'- CACATGAATGTAAGTGTGTGCAG -3'
Sequencing Primer
(F):5'- CACACGTAAATATGATGCAATCAAG -3'
(R):5'- TGCAGAAGAGCACCCCG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation