Incidental Mutation 'R0226:Agl'
ID |
33906 |
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 |
038471-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.360)
|
Stock # |
R0226 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
116533648-116601815 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 116545720 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 1359
(R1359C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124149
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040603]
[ENSMUST00000159742]
[ENSMUST00000161336]
[ENSMUST00000162792]
|
AlphaFold |
F8VPN4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040603
AA Change: R1359C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000044012 Gene: ENSMUSG00000033400 AA Change: R1359C
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: ENSMUST00000159742
|
SMART Domains |
Protein: ENSMUSP00000143582 Gene: ENSMUSG00000033400
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 |
unknown
Transcript: ENSMUST00000160484
AA Change: R694C
|
SMART Domains |
Protein: ENSMUSP00000123985 Gene: ENSMUSG00000033400 AA Change: R694C
Domain | Start | End | E-Value | Type |
Pfam:hGDE_central
|
33 |
310 |
2.8e-87 |
PFAM |
Pfam:GDE_C
|
379 |
830 |
1.3e-126 |
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 |
probably damaging
Transcript: ENSMUST00000162792
AA Change: R1359C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124149 Gene: ENSMUSG00000033400 AA Change: R1359C
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 |
0.3732 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.4%
|
Validation Efficiency |
100% (98/98) |
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: 90 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700129C05Rik |
G |
T |
14: 59,379,569 (GRCm39) |
T54K |
possibly damaging |
Het |
2210408I21Rik |
A |
T |
13: 77,451,544 (GRCm39) |
E876V |
possibly damaging |
Het |
Aasdh |
A |
T |
5: 77,049,849 (GRCm39) |
L49Q |
probably damaging |
Het |
Abca8b |
T |
C |
11: 109,847,844 (GRCm39) |
|
probably null |
Het |
Ablim1 |
A |
T |
19: 57,032,302 (GRCm39) |
L556Q |
probably damaging |
Het |
Afdn |
A |
G |
17: 14,119,408 (GRCm39) |
T1700A |
probably benign |
Het |
Agpat3 |
T |
A |
10: 78,113,863 (GRCm39) |
H275L |
possibly damaging |
Het |
Ahcyl1 |
A |
T |
3: 107,577,586 (GRCm39) |
C180* |
probably null |
Het |
Aim2 |
A |
G |
1: 173,289,899 (GRCm39) |
|
probably benign |
Het |
Angpt1 |
T |
C |
15: 42,331,631 (GRCm39) |
N320S |
probably benign |
Het |
Ankrd52 |
T |
A |
10: 128,225,727 (GRCm39) |
|
probably null |
Het |
Ap1g1 |
C |
T |
8: 110,581,694 (GRCm39) |
S654L |
probably benign |
Het |
Bpifa1 |
T |
A |
2: 153,987,977 (GRCm39) |
S173R |
probably benign |
Het |
Brd8 |
T |
C |
18: 34,736,947 (GRCm39) |
|
probably benign |
Het |
Btbd9 |
C |
T |
17: 30,493,916 (GRCm39) |
D492N |
possibly damaging |
Het |
C1qtnf2 |
A |
G |
11: 43,381,670 (GRCm39) |
T161A |
probably benign |
Het |
Car6 |
T |
C |
4: 150,271,965 (GRCm39) |
Y228C |
probably damaging |
Het |
Ccdc149 |
A |
G |
5: 52,557,559 (GRCm39) |
L273P |
probably damaging |
Het |
Cit |
G |
A |
5: 116,122,899 (GRCm39) |
R1405Q |
probably damaging |
Het |
Cox17 |
T |
C |
16: 38,169,638 (GRCm39) |
L48P |
probably damaging |
Het |
Cttn |
A |
G |
7: 143,995,589 (GRCm39) |
|
probably benign |
Het |
Cyp4f18 |
T |
C |
8: 72,743,619 (GRCm39) |
|
probably benign |
Het |
Dtnbp1 |
A |
G |
13: 45,076,669 (GRCm39) |
L175P |
probably damaging |
Het |
Efl1 |
T |
C |
7: 82,342,219 (GRCm39) |
|
probably benign |
Het |
Fbn1 |
C |
T |
2: 125,162,830 (GRCm39) |
R2152Q |
possibly damaging |
Het |
Fignl1 |
A |
T |
11: 11,751,061 (GRCm39) |
S665T |
probably benign |
Het |
Gm9843 |
A |
T |
16: 76,200,449 (GRCm39) |
|
noncoding transcript |
Het |
Gpr155 |
C |
T |
2: 73,197,936 (GRCm39) |
V395I |
probably benign |
Het |
Greb1l |
T |
C |
18: 10,522,076 (GRCm39) |
|
probably benign |
Het |
Hdgfl1 |
A |
T |
13: 26,953,979 (GRCm39) |
H31Q |
probably benign |
Het |
Heatr1 |
T |
C |
13: 12,425,443 (GRCm39) |
S628P |
probably damaging |
Het |
Hivep2 |
A |
G |
10: 14,005,456 (GRCm39) |
T685A |
probably benign |
Het |
Hmgcl |
T |
G |
4: 135,686,039 (GRCm39) |
V168G |
probably damaging |
Het |
Itch |
T |
C |
2: 155,041,314 (GRCm39) |
I454T |
probably benign |
Het |
Itih2 |
T |
C |
2: 10,120,110 (GRCm39) |
D309G |
possibly damaging |
Het |
Kcmf1 |
T |
C |
6: 72,819,935 (GRCm39) |
I304V |
probably benign |
Het |
Kcnh1 |
G |
A |
1: 191,959,112 (GRCm39) |
W222* |
probably null |
Het |
Kcnh1 |
G |
T |
1: 191,959,113 (GRCm39) |
W222C |
probably damaging |
Het |
Kif24 |
T |
A |
4: 41,414,939 (GRCm39) |
K287* |
probably null |
Het |
Lrig3 |
A |
G |
10: 125,807,986 (GRCm39) |
|
probably benign |
Het |
Lrp2 |
A |
T |
2: 69,367,907 (GRCm39) |
C202S |
probably null |
Het |
Lrrc37 |
A |
T |
11: 103,494,067 (GRCm39) |
F663L |
probably benign |
Het |
Lrrn2 |
A |
G |
1: 132,865,558 (GRCm39) |
N208D |
probably damaging |
Het |
Mcm5 |
C |
T |
8: 75,852,880 (GRCm39) |
T664I |
possibly damaging |
Het |
Mfsd10 |
A |
G |
5: 34,791,790 (GRCm39) |
L365S |
probably benign |
Het |
Mfsd6 |
A |
G |
1: 52,697,849 (GRCm39) |
|
probably benign |
Het |
Mgat4e |
A |
G |
1: 134,468,841 (GRCm39) |
V401A |
probably benign |
Het |
Mllt3 |
C |
A |
4: 87,758,969 (GRCm39) |
V360L |
probably benign |
Het |
Mrm1 |
G |
A |
11: 84,709,996 (GRCm39) |
A68V |
possibly damaging |
Het |
Myo19 |
A |
G |
11: 84,788,558 (GRCm39) |
|
probably benign |
Het |
Myo3b |
A |
G |
2: 70,047,510 (GRCm39) |
T311A |
probably benign |
Het |
Myo5b |
T |
C |
18: 74,875,251 (GRCm39) |
F1552L |
probably benign |
Het |
Myo7b |
C |
T |
18: 32,105,949 (GRCm39) |
V1353I |
probably benign |
Het |
Myo9b |
T |
C |
8: 71,806,476 (GRCm39) |
S1512P |
probably damaging |
Het |
Nanos3 |
C |
T |
8: 84,902,763 (GRCm39) |
R133Q |
probably damaging |
Het |
Osbpl3 |
A |
G |
6: 50,329,988 (GRCm39) |
W63R |
probably damaging |
Het |
Pcdh17 |
T |
C |
14: 84,685,641 (GRCm39) |
S703P |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,815,237 (GRCm39) |
I1231T |
probably damaging |
Het |
Pex16 |
A |
C |
2: 92,206,032 (GRCm39) |
|
probably benign |
Het |
Pfkl |
T |
C |
10: 77,828,368 (GRCm39) |
N399S |
probably benign |
Het |
Pkhd1l1 |
G |
A |
15: 44,390,180 (GRCm39) |
R1432K |
possibly damaging |
Het |
Prdm1 |
T |
A |
10: 44,332,692 (GRCm39) |
T106S |
probably benign |
Het |
Prrc1 |
A |
G |
18: 57,496,363 (GRCm39) |
M105V |
probably benign |
Het |
Psg26 |
A |
G |
7: 18,217,883 (GRCm39) |
C12R |
possibly damaging |
Het |
Rnf43 |
A |
T |
11: 87,622,263 (GRCm39) |
S455C |
probably damaging |
Het |
Ryr2 |
T |
C |
13: 11,787,442 (GRCm39) |
K977R |
probably damaging |
Het |
Sart1 |
C |
T |
19: 5,431,150 (GRCm39) |
|
probably benign |
Het |
Sec14l5 |
A |
G |
16: 4,998,167 (GRCm39) |
S509G |
probably benign |
Het |
Sin3b |
A |
T |
8: 73,471,136 (GRCm39) |
E361V |
probably benign |
Het |
Slc35e3 |
C |
T |
10: 117,576,795 (GRCm39) |
E179K |
possibly damaging |
Het |
Sntb2 |
T |
C |
8: 107,728,215 (GRCm39) |
S388P |
probably damaging |
Het |
Srms |
A |
G |
2: 180,854,175 (GRCm39) |
S131P |
probably benign |
Het |
Sting1 |
A |
T |
18: 35,872,141 (GRCm39) |
F120L |
probably benign |
Het |
Stxbp5 |
T |
C |
10: 9,742,442 (GRCm39) |
|
probably benign |
Het |
Taar2 |
T |
C |
10: 23,816,961 (GRCm39) |
V167A |
probably damaging |
Het |
Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
Thsd7a |
A |
G |
6: 12,321,899 (GRCm39) |
Y1516H |
possibly damaging |
Het |
Tlk1 |
T |
A |
2: 70,544,513 (GRCm39) |
|
probably benign |
Het |
Tnfaip3 |
T |
C |
10: 18,878,495 (GRCm39) |
K771R |
probably damaging |
Het |
Treml1 |
C |
T |
17: 48,667,486 (GRCm39) |
L124F |
probably damaging |
Het |
Ttn |
G |
T |
2: 76,611,141 (GRCm39) |
Q9137K |
possibly damaging |
Het |
Unkl |
T |
A |
17: 25,449,685 (GRCm39) |
I469N |
probably damaging |
Het |
Vmn1r173 |
G |
T |
7: 23,402,508 (GRCm39) |
V248L |
possibly damaging |
Het |
Vps35 |
T |
C |
8: 86,000,204 (GRCm39) |
Q474R |
probably damaging |
Het |
Wdr17 |
T |
A |
8: 55,116,043 (GRCm39) |
T580S |
probably benign |
Het |
Xpnpep1 |
T |
C |
19: 52,998,583 (GRCm39) |
K222E |
probably benign |
Het |
Ylpm1 |
A |
G |
12: 85,096,511 (GRCm39) |
T1446A |
probably benign |
Het |
Zfp277 |
A |
G |
12: 40,414,161 (GRCm39) |
L228S |
possibly damaging |
Het |
Zfp941 |
T |
A |
7: 140,393,188 (GRCm39) |
K57M |
probably damaging |
Het |
Zmpste24 |
A |
T |
4: 120,938,406 (GRCm39) |
S244R |
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 |
|
R0092:Agl
|
UTSW |
3 |
116,587,453 (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'- AGACGCCAGGTACTGGGCAT -3'
(R):5'- GCATATCTCCATCTAAAGCAGCCACATT -3'
Sequencing Primer
(F):5'- ACTGGGCATGTGTGACTC -3'
(R):5'- GCAGCCACATTTTCTAAAACATAG -3'
|
Posted On |
2013-05-09 |