Incidental Mutation 'R0092:Agl'
ID |
20265 |
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 |
038379-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.360)
|
Stock # |
R0092 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
3 |
Chromosomal Location |
116533648-116601815 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 116587453 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 34
(R34Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123877
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040603]
[ENSMUST00000159670]
[ENSMUST00000159742]
[ENSMUST00000161336]
[ENSMUST00000162792]
|
AlphaFold |
F8VPN4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040603
AA Change: R34Q
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000044012 Gene: ENSMUSG00000033400 AA Change: R34Q
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 damaging
Transcript: ENSMUST00000159670
AA Change: R34Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124840 Gene: ENSMUSG00000033400 AA Change: R34Q
Domain | Start | End | E-Value | Type |
Pfam:hGDE_N
|
30 |
117 |
7.9e-30 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159742
AA Change: R34Q
PolyPhen 2
Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000143582 Gene: ENSMUSG00000033400 AA Change: R34Q
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 damaging
Transcript: ENSMUST00000161336
AA Change: R34Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123877 Gene: ENSMUSG00000033400 AA Change: R34Q
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 |
possibly damaging
Transcript: ENSMUST00000162792
AA Change: R34Q
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000124149 Gene: ENSMUSG00000033400 AA Change: R34Q
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 |
0.2600 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 88.6%
|
Validation Efficiency |
99% (112/113) |
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: 94 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg2 |
T |
A |
6: 58,662,762 (GRCm39) |
S535T |
probably benign |
Het |
Acad11 |
A |
T |
9: 103,967,540 (GRCm39) |
|
probably benign |
Het |
Acadm |
A |
T |
3: 153,647,512 (GRCm39) |
|
probably benign |
Het |
Acot12 |
T |
A |
13: 91,889,684 (GRCm39) |
M12K |
probably damaging |
Het |
Actr2 |
A |
T |
11: 20,044,308 (GRCm39) |
N99K |
probably benign |
Het |
Adam2 |
G |
A |
14: 66,291,336 (GRCm39) |
A314V |
probably damaging |
Het |
Agrn |
C |
T |
4: 156,263,410 (GRCm39) |
R338H |
probably damaging |
Het |
AI661453 |
A |
G |
17: 47,778,440 (GRCm39) |
|
probably benign |
Het |
Alpk3 |
A |
G |
7: 80,742,301 (GRCm39) |
D706G |
probably benign |
Het |
Apbb1 |
T |
C |
7: 105,208,361 (GRCm39) |
E648G |
probably damaging |
Het |
Astn2 |
C |
A |
4: 66,322,219 (GRCm39) |
A127S |
unknown |
Het |
Asxl2 |
T |
C |
12: 3,546,313 (GRCm39) |
S366P |
probably benign |
Het |
Bdh1 |
A |
T |
16: 31,266,380 (GRCm39) |
K92* |
probably null |
Het |
Bltp1 |
A |
G |
3: 37,082,308 (GRCm39) |
D3790G |
probably benign |
Het |
Cacna1g |
C |
T |
11: 94,348,090 (GRCm39) |
S666N |
probably damaging |
Het |
Ces2b |
A |
G |
8: 105,563,144 (GRCm39) |
T361A |
possibly damaging |
Het |
Col6a4 |
T |
A |
9: 105,890,513 (GRCm39) |
E1927V |
probably benign |
Het |
Ctnnb1 |
T |
G |
9: 120,781,929 (GRCm39) |
I314S |
possibly damaging |
Het |
Cyp2c66 |
T |
C |
19: 39,172,224 (GRCm39) |
|
probably benign |
Het |
Dennd4c |
T |
A |
4: 86,699,844 (GRCm39) |
F232I |
probably damaging |
Het |
Dennd5a |
T |
C |
7: 109,499,013 (GRCm39) |
N950S |
possibly damaging |
Het |
Dhx30 |
T |
C |
9: 109,914,078 (GRCm39) |
N14S |
possibly damaging |
Het |
Dip2b |
T |
A |
15: 100,100,146 (GRCm39) |
V1004D |
probably damaging |
Het |
Dnah1 |
A |
C |
14: 30,993,566 (GRCm39) |
S2872A |
probably benign |
Het |
Dnajc10 |
T |
C |
2: 80,156,026 (GRCm39) |
V233A |
probably damaging |
Het |
E230025N22Rik |
A |
G |
18: 36,822,277 (GRCm39) |
L162P |
probably damaging |
Het |
Elmod3 |
T |
C |
6: 72,543,792 (GRCm39) |
D333G |
probably benign |
Het |
Epb41l3 |
T |
A |
17: 69,593,745 (GRCm39) |
M846K |
probably damaging |
Het |
Frem2 |
A |
G |
3: 53,497,217 (GRCm39) |
Y1766H |
probably benign |
Het |
Fxr2 |
T |
C |
11: 69,532,972 (GRCm39) |
|
probably benign |
Het |
Gmpr2 |
A |
G |
14: 55,915,402 (GRCm39) |
R258G |
probably benign |
Het |
Helb |
T |
C |
10: 119,925,713 (GRCm39) |
Y888C |
probably damaging |
Het |
Hephl1 |
TTCCAGATGTCC |
TTCC |
9: 15,001,899 (GRCm39) |
|
probably null |
Het |
Hipk2 |
T |
C |
6: 38,720,164 (GRCm39) |
D482G |
probably damaging |
Het |
Itgb4 |
G |
T |
11: 115,869,950 (GRCm39) |
R44L |
probably damaging |
Het |
Itih1 |
T |
C |
14: 30,662,820 (GRCm39) |
|
probably benign |
Het |
Kit |
T |
A |
5: 75,808,414 (GRCm39) |
S719R |
possibly damaging |
Het |
Krt13 |
G |
A |
11: 100,012,258 (GRCm39) |
Q22* |
probably null |
Het |
L3mbtl4 |
A |
C |
17: 68,732,698 (GRCm39) |
R59S |
probably benign |
Het |
Lpp |
A |
G |
16: 24,580,352 (GRCm39) |
S23G |
probably benign |
Het |
Magi3 |
G |
A |
3: 103,958,280 (GRCm39) |
Q602* |
probably null |
Het |
Man2a1 |
A |
G |
17: 64,966,079 (GRCm39) |
|
probably benign |
Het |
Muc5ac |
A |
G |
7: 141,372,367 (GRCm39) |
E2667G |
possibly damaging |
Het |
Myef2l |
G |
A |
3: 10,153,633 (GRCm39) |
C134Y |
possibly damaging |
Het |
Myo15b |
C |
G |
11: 115,753,812 (GRCm39) |
S842C |
possibly damaging |
Het |
Naf1 |
T |
A |
8: 67,341,760 (GRCm39) |
S462T |
probably benign |
Het |
Necab3 |
T |
C |
2: 154,400,659 (GRCm39) |
D34G |
possibly damaging |
Het |
Nisch |
C |
A |
14: 30,913,410 (GRCm39) |
|
probably benign |
Het |
Nlrc5 |
T |
C |
8: 95,216,222 (GRCm39) |
|
probably benign |
Het |
Nmt1 |
T |
C |
11: 102,937,319 (GRCm39) |
F119L |
probably damaging |
Het |
Nod1 |
T |
G |
6: 54,921,526 (GRCm39) |
D264A |
probably damaging |
Het |
Nol8 |
C |
T |
13: 49,815,923 (GRCm39) |
A677V |
possibly damaging |
Het |
Nt5e |
T |
A |
9: 88,252,338 (GRCm39) |
F567I |
probably benign |
Het |
Obscn |
A |
T |
11: 58,942,073 (GRCm39) |
M4434K |
possibly damaging |
Het |
Opa1 |
A |
T |
16: 29,444,412 (GRCm39) |
D866V |
probably damaging |
Het |
Or10a3m |
T |
C |
7: 108,313,031 (GRCm39) |
V145A |
probably benign |
Het |
Or10al3 |
T |
G |
17: 38,011,696 (GRCm39) |
L45R |
probably damaging |
Het |
Or10p1 |
A |
G |
10: 129,444,090 (GRCm39) |
S87P |
probably damaging |
Het |
Or1j21 |
A |
G |
2: 36,683,508 (GRCm39) |
T87A |
probably benign |
Het |
Or51ai2 |
T |
C |
7: 103,586,934 (GRCm39) |
S116P |
probably damaging |
Het |
Otop1 |
T |
A |
5: 38,457,174 (GRCm39) |
V311E |
probably damaging |
Het |
Pcsk2 |
A |
G |
2: 143,642,944 (GRCm39) |
D407G |
probably damaging |
Het |
Pdcd1 |
A |
G |
1: 93,980,149 (GRCm39) |
W23R |
possibly damaging |
Het |
Pigp |
A |
G |
16: 94,166,321 (GRCm39) |
V129A |
probably damaging |
Het |
Pik3r5 |
A |
G |
11: 68,383,629 (GRCm39) |
R483G |
probably benign |
Het |
Pink1 |
A |
G |
4: 138,047,309 (GRCm39) |
V225A |
probably benign |
Het |
Plcl1 |
C |
G |
1: 55,735,924 (GRCm39) |
Q422E |
probably damaging |
Het |
Plec |
T |
C |
15: 76,067,943 (GRCm39) |
E1222G |
probably benign |
Het |
Polr1a |
T |
C |
6: 71,944,439 (GRCm39) |
|
probably benign |
Het |
Prokr2 |
C |
T |
2: 132,215,517 (GRCm39) |
V154M |
probably damaging |
Het |
Rasgrp4 |
A |
G |
7: 28,844,557 (GRCm39) |
R280G |
possibly damaging |
Het |
Rmnd5b |
T |
C |
11: 51,520,419 (GRCm39) |
E8G |
possibly damaging |
Het |
Sbf2 |
T |
A |
7: 109,920,013 (GRCm39) |
|
probably benign |
Het |
Sec23b |
A |
G |
2: 144,408,830 (GRCm39) |
M172V |
probably benign |
Het |
Setx |
T |
C |
2: 29,036,305 (GRCm39) |
V930A |
probably benign |
Het |
Sft2d2 |
G |
A |
1: 165,006,829 (GRCm39) |
A159V |
possibly damaging |
Het |
Sh3gl1 |
G |
T |
17: 56,325,088 (GRCm39) |
R250S |
probably benign |
Het |
Skor1 |
C |
A |
9: 63,053,277 (GRCm39) |
D231Y |
probably damaging |
Het |
Slc24a1 |
T |
G |
9: 64,856,034 (GRCm39) |
E291A |
unknown |
Het |
Slc28a2b |
G |
T |
2: 122,348,078 (GRCm39) |
|
probably benign |
Het |
Smc1b |
A |
T |
15: 84,951,925 (GRCm39) |
|
probably benign |
Het |
Tbccd1 |
A |
T |
16: 22,644,844 (GRCm39) |
N177K |
possibly damaging |
Het |
Tdp1 |
T |
A |
12: 99,921,248 (GRCm39) |
Y595N |
probably damaging |
Het |
Tle5 |
G |
A |
10: 81,397,054 (GRCm39) |
G10D |
possibly damaging |
Het |
Tmem108 |
T |
C |
9: 103,366,504 (GRCm39) |
K496E |
possibly damaging |
Het |
Tmprss7 |
T |
C |
16: 45,487,959 (GRCm39) |
D490G |
probably damaging |
Het |
Tnrc6b |
A |
T |
15: 80,802,729 (GRCm39) |
N1511Y |
probably damaging |
Het |
Top2b |
G |
A |
14: 16,409,263 (GRCm38) |
R802Q |
probably damaging |
Het |
Trip10 |
A |
T |
17: 57,557,798 (GRCm39) |
K27N |
possibly damaging |
Het |
Txlnb |
A |
G |
10: 17,718,503 (GRCm39) |
N445D |
possibly damaging |
Het |
Txnrd1 |
T |
A |
10: 82,715,636 (GRCm39) |
I159N |
probably damaging |
Het |
Ulk1 |
C |
A |
5: 110,944,193 (GRCm39) |
A164S |
probably null |
Het |
Vmn2r83 |
T |
C |
10: 79,327,798 (GRCm39) |
V802A |
probably damaging |
Het |
Zbtb4 |
A |
G |
11: 69,670,177 (GRCm39) |
I967V |
probably benign |
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 |
|
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 |
R1834:Agl
|
UTSW |
3 |
116,582,000 (GRCm39) |
missense |
probably benign |
0.31 |
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'- TGTGGCCTACACAGTAACACCGTC -3'
(R):5'- CATCACATCTGAGTGGCTGACCAAG -3'
Sequencing Primer
(F):5'- CCGTCAGAACCTGAGTTATAGAC -3'
(R):5'- TCGAAGTGCCAAGTAGTTCC -3'
|
Posted On |
2013-04-11 |