Incidental Mutation 'R1853:Agl'
| ID |
208307 |
| 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 |
039877-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.360)
|
| Stock # |
R1853 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
116533648-116601815 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 116572971 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 789
(Y789*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124149
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040603]
[ENSMUST00000159742]
[ENSMUST00000161336]
[ENSMUST00000162792]
|
| AlphaFold |
F8VPN4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000040603
AA Change: Y789*
|
| SMART Domains |
Protein: ENSMUSP00000044012
Gene: ENSMUSG00000033400
AA Change: Y789*
| 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 null
Transcript: ENSMUST00000159742
AA Change: Y789*
|
| SMART Domains |
Protein: ENSMUSP00000143582
Gene: ENSMUSG00000033400
AA Change: Y789*
| 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: ENSMUST00000159995
|
| SMART Domains |
Protein: ENSMUSP00000125246
Gene: ENSMUSG00000033400
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:hGDE_central
|
119 |
197 |
8.8e-25 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000160484
AA Change: Y124*
|
| SMART Domains |
Protein: ENSMUSP00000123985
Gene: ENSMUSG00000033400
AA Change: Y124*
| 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 null
Transcript: ENSMUST00000162792
AA Change: Y789*
|
| SMART Domains |
Protein: ENSMUSP00000124149
Gene: ENSMUSG00000033400
AA Change: Y789*
| 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 |
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 92.2%
|
| Validation Efficiency |
|
| 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: 97 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadvl |
T |
C |
11: 69,901,696 (GRCm39) |
K554E |
probably damaging |
Het |
| Acap2 |
C |
T |
16: 30,936,122 (GRCm39) |
E322K |
probably damaging |
Het |
| Adam32 |
T |
C |
8: 25,388,642 (GRCm39) |
Y354C |
probably benign |
Het |
| Aida |
A |
G |
1: 183,087,380 (GRCm39) |
T68A |
probably benign |
Het |
| Aldh3b3 |
T |
A |
19: 4,015,822 (GRCm39) |
L264Q |
probably damaging |
Het |
| Anks6 |
T |
C |
4: 47,049,387 (GRCm39) |
T173A |
probably benign |
Het |
| Ankzf1 |
A |
G |
1: 75,174,772 (GRCm39) |
|
probably null |
Het |
| Apob |
A |
T |
12: 8,060,928 (GRCm39) |
K3137* |
probably null |
Het |
| Arhgef16 |
C |
T |
4: 154,375,563 (GRCm39) |
V144I |
probably benign |
Het |
| Arhgef2 |
A |
T |
3: 88,540,222 (GRCm39) |
T107S |
possibly damaging |
Het |
| Ark2c |
T |
A |
18: 77,550,671 (GRCm39) |
S279C |
possibly damaging |
Het |
| Atad2 |
G |
A |
15: 57,960,685 (GRCm39) |
P971L |
possibly damaging |
Het |
| Atp6ap1l |
T |
C |
13: 91,031,707 (GRCm39) |
E325G |
probably damaging |
Het |
| BC035947 |
T |
C |
1: 78,475,653 (GRCm39) |
N293S |
possibly damaging |
Het |
| Bhmt |
C |
T |
13: 93,761,843 (GRCm39) |
V147M |
probably damaging |
Het |
| Ccdc112 |
A |
T |
18: 46,418,767 (GRCm39) |
H447Q |
probably benign |
Het |
| Cd274 |
T |
A |
19: 29,357,882 (GRCm39) |
N191K |
probably damaging |
Het |
| Ckmt1 |
C |
T |
2: 121,191,131 (GRCm39) |
T181I |
probably damaging |
Het |
| Cnih3 |
C |
A |
1: 181,282,186 (GRCm39) |
S140* |
probably null |
Het |
| Col28a1 |
T |
G |
6: 8,014,574 (GRCm39) |
I944L |
probably benign |
Het |
| Cttnbp2 |
T |
C |
6: 18,408,601 (GRCm39) |
T1007A |
probably benign |
Het |
| Cux2 |
G |
T |
5: 122,007,184 (GRCm39) |
P826T |
possibly damaging |
Het |
| Cyren |
A |
G |
6: 34,852,494 (GRCm39) |
V67A |
probably damaging |
Het |
| Dap3 |
A |
T |
3: 88,838,233 (GRCm39) |
V86E |
probably damaging |
Het |
| Ddah1 |
A |
G |
3: 145,597,304 (GRCm39) |
I180M |
probably benign |
Het |
| Ddt |
T |
C |
10: 75,609,138 (GRCm39) |
E7G |
possibly damaging |
Het |
| Dhx57 |
A |
T |
17: 80,582,308 (GRCm39) |
Y432* |
probably null |
Het |
| Dpp9 |
T |
C |
17: 56,509,885 (GRCm39) |
I314V |
probably benign |
Het |
| Enpp2 |
C |
T |
15: 54,709,219 (GRCm39) |
E803K |
probably damaging |
Het |
| Ercc6 |
T |
A |
14: 32,298,773 (GRCm39) |
I1387N |
possibly damaging |
Het |
| Fancg |
T |
C |
4: 43,009,727 (GRCm39) |
E57G |
probably benign |
Het |
| Fcgbpl1 |
C |
T |
7: 27,854,971 (GRCm39) |
Q1866* |
probably null |
Het |
| Fkbp5 |
A |
T |
17: 28,648,281 (GRCm39) |
C103S |
possibly damaging |
Het |
| Gm14403 |
C |
A |
2: 177,200,932 (GRCm39) |
H293N |
probably damaging |
Het |
| Gm4353 |
G |
A |
7: 115,682,804 (GRCm39) |
P259L |
probably benign |
Het |
| Gm4787 |
T |
A |
12: 81,425,108 (GRCm39) |
H350L |
probably damaging |
Het |
| Hibch |
T |
C |
1: 52,940,494 (GRCm39) |
|
probably null |
Het |
| Impg2 |
T |
C |
16: 56,080,640 (GRCm39) |
S815P |
probably damaging |
Het |
| Ipo11 |
A |
T |
13: 106,997,395 (GRCm39) |
I688K |
probably benign |
Het |
| Kcnd3 |
A |
T |
3: 105,367,068 (GRCm39) |
T313S |
probably damaging |
Het |
| Kctd14 |
A |
T |
7: 97,102,631 (GRCm39) |
S38C |
possibly damaging |
Het |
| Kdm3b |
G |
T |
18: 34,966,446 (GRCm39) |
R1660L |
probably damaging |
Het |
| Kdr |
C |
T |
5: 76,113,565 (GRCm39) |
G768S |
possibly damaging |
Het |
| Klhl2 |
G |
A |
8: 65,275,658 (GRCm39) |
H82Y |
probably benign |
Het |
| Lama3 |
A |
T |
18: 12,646,762 (GRCm39) |
T1759S |
possibly damaging |
Het |
| Lamb1 |
T |
G |
12: 31,368,271 (GRCm39) |
C1134G |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,406,513 (GRCm39) |
|
probably null |
Het |
| Mlph |
C |
T |
1: 90,873,389 (GRCm39) |
Q567* |
probably null |
Het |
| Mocos |
A |
C |
18: 24,829,026 (GRCm39) |
E777A |
probably damaging |
Het |
| Neil1 |
T |
A |
9: 57,051,999 (GRCm39) |
Q214L |
probably damaging |
Het |
| Nes |
A |
G |
3: 87,883,114 (GRCm39) |
T458A |
possibly damaging |
Het |
| Nlgn1 |
A |
T |
3: 26,187,671 (GRCm39) |
N71K |
possibly damaging |
Het |
| Nr4a1 |
T |
C |
15: 101,169,645 (GRCm39) |
I305T |
probably benign |
Het |
| Nup58 |
T |
C |
14: 60,481,996 (GRCm39) |
T123A |
possibly damaging |
Het |
| Oas1c |
A |
T |
5: 120,946,060 (GRCm39) |
V146E |
probably damaging |
Het |
| Oit3 |
C |
T |
10: 59,277,444 (GRCm39) |
|
probably null |
Het |
| Or12k8 |
A |
T |
2: 36,975,232 (GRCm39) |
F176Y |
probably damaging |
Het |
| Or4k15c |
A |
G |
14: 50,321,577 (GRCm39) |
L187P |
probably damaging |
Het |
| Osbp |
T |
C |
19: 11,951,255 (GRCm39) |
S267P |
possibly damaging |
Het |
| Pclo |
T |
A |
5: 14,726,698 (GRCm39) |
|
probably benign |
Het |
| Pde9a |
C |
T |
17: 31,674,094 (GRCm39) |
P60S |
probably damaging |
Het |
| Pdia3 |
T |
C |
2: 121,262,144 (GRCm39) |
I205T |
probably benign |
Het |
| Pdia4 |
A |
T |
6: 47,790,161 (GRCm39) |
D26E |
unknown |
Het |
| Pds5a |
A |
G |
5: 65,781,372 (GRCm39) |
V1036A |
possibly damaging |
Het |
| Pitx3 |
C |
T |
19: 46,125,912 (GRCm39) |
G4R |
probably benign |
Het |
| Pnn |
T |
A |
12: 59,118,399 (GRCm39) |
N327K |
probably damaging |
Het |
| Pole |
T |
G |
5: 110,454,719 (GRCm39) |
I984R |
possibly damaging |
Het |
| Psme2 |
T |
A |
14: 55,825,936 (GRCm39) |
I124F |
probably damaging |
Het |
| Pstpip2 |
T |
A |
18: 77,959,499 (GRCm39) |
L198Q |
probably damaging |
Het |
| Siglece |
A |
G |
7: 43,309,360 (GRCm39) |
F66S |
probably benign |
Het |
| Slc1a6 |
T |
A |
10: 78,648,758 (GRCm39) |
V493E |
probably damaging |
Het |
| Snd1 |
T |
A |
6: 28,545,563 (GRCm39) |
I373N |
probably damaging |
Het |
| Srrm2 |
A |
G |
17: 24,039,499 (GRCm39) |
T2144A |
probably damaging |
Het |
| Sst |
A |
G |
16: 23,709,403 (GRCm39) |
L31P |
probably damaging |
Het |
| Stab1 |
C |
T |
14: 30,862,420 (GRCm39) |
V2305M |
probably damaging |
Het |
| Stard9 |
T |
C |
2: 120,519,232 (GRCm39) |
I545T |
probably damaging |
Het |
| Tcaim |
T |
C |
9: 122,655,271 (GRCm39) |
W248R |
probably damaging |
Het |
| Tepsin |
A |
C |
11: 119,989,462 (GRCm39) |
F13C |
probably damaging |
Het |
| Terf1 |
T |
A |
1: 15,889,162 (GRCm39) |
L197* |
probably null |
Het |
| Tiam2 |
C |
T |
17: 3,465,410 (GRCm39) |
R380C |
probably damaging |
Het |
| Tmem63b |
G |
A |
17: 45,972,223 (GRCm39) |
H745Y |
possibly damaging |
Het |
| Trim40 |
A |
G |
17: 37,199,970 (GRCm39) |
L36P |
probably damaging |
Het |
| Trim72 |
A |
G |
7: 127,608,254 (GRCm39) |
I251V |
probably benign |
Het |
| Trio |
T |
C |
15: 27,756,622 (GRCm39) |
Y914C |
probably damaging |
Het |
| Vmn2r113 |
G |
A |
17: 23,164,501 (GRCm39) |
V135I |
probably benign |
Het |
| Vmn2r117 |
T |
A |
17: 23,696,429 (GRCm39) |
H326L |
probably damaging |
Het |
| Vmn2r28 |
A |
T |
7: 5,484,246 (GRCm39) |
C651* |
probably null |
Het |
| Xpnpep1 |
T |
C |
19: 52,994,641 (GRCm39) |
E329G |
probably benign |
Het |
| Xpo4 |
G |
A |
14: 57,823,364 (GRCm39) |
T1042M |
possibly damaging |
Het |
| Ypel1 |
A |
C |
16: 16,925,087 (GRCm39) |
D28E |
probably benign |
Het |
| Zdbf2 |
GAAAAA |
GAAAAAA |
1: 63,344,701 (GRCm39) |
|
probably null |
Het |
| Zfp51 |
A |
T |
17: 21,684,585 (GRCm39) |
H400L |
probably damaging |
Het |
| Zfp518b |
A |
T |
5: 38,830,750 (GRCm39) |
F418L |
probably benign |
Het |
| Zfp54 |
T |
A |
17: 21,654,404 (GRCm39) |
Y299* |
probably null |
Het |
| Zfp672 |
T |
C |
11: 58,207,790 (GRCm39) |
H177R |
probably benign |
Het |
| Zfp692 |
C |
A |
11: 58,200,805 (GRCm39) |
P229T |
possibly damaging |
Het |
| Zswim4 |
A |
T |
8: 84,950,829 (GRCm39) |
C533S |
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 |
|
R1834:Agl
|
UTSW |
3 |
116,582,000 (GRCm39) |
missense |
probably benign |
0.31 |
|
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'- TGGCAACTCCAGCTTGTCTG -3'
(R):5'- CCTGATCATGCTCAAAACATGTC -3'
Sequencing Primer
(F):5'- AACTCCAGCTTGTCTGACAATTTTAC -3'
(R):5'- GCTCAAAACATGTCCGTTTTTCAGG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation