Incidental Mutation 'R1465:Agl'
ID |
201037 |
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 |
039519-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.345)
|
Stock # |
R1465 (G1)
|
Quality Score |
221 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
116533648-116601815 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 116565021 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 1076
(E1076G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143582
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040603]
[ENSMUST00000159742]
[ENSMUST00000161336]
[ENSMUST00000162792]
|
AlphaFold |
F8VPN4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040603
AA Change: E1076G
PolyPhen 2
Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000044012 Gene: ENSMUSG00000033400 AA Change: E1076G
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
AA Change: E1076G
PolyPhen 2
Score 0.354 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000143582 Gene: ENSMUSG00000033400 AA Change: E1076G
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: E411G
|
SMART Domains |
Protein: ENSMUSP00000123985 Gene: ENSMUSG00000033400 AA Change: E411G
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 benign
Transcript: ENSMUST00000162792
AA Change: E1076G
PolyPhen 2
Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000124149 Gene: ENSMUSG00000033400 AA Change: E1076G
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: 97.3%
- 3x: 96.5%
- 10x: 93.6%
- 20x: 86.6%
|
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: 105 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310030G06Rik |
A |
G |
9: 50,651,866 (GRCm39) |
Y121H |
probably damaging |
Het |
Abca13 |
G |
T |
11: 9,349,303 (GRCm39) |
G3626W |
probably damaging |
Het |
Acvr1c |
A |
G |
2: 58,174,973 (GRCm39) |
Y192H |
probably damaging |
Het |
Afm |
A |
T |
5: 90,698,200 (GRCm39) |
D534V |
probably damaging |
Het |
Ahcyl |
T |
C |
16: 45,974,211 (GRCm39) |
K389E |
probably benign |
Het |
Angptl3 |
A |
T |
4: 98,925,757 (GRCm39) |
H361L |
probably benign |
Het |
Apob |
T |
C |
12: 8,061,421 (GRCm39) |
F3301S |
possibly damaging |
Het |
Arhgef33 |
T |
A |
17: 80,674,730 (GRCm39) |
C376S |
possibly damaging |
Het |
Ass1 |
A |
G |
2: 31,410,428 (GRCm39) |
*413W |
probably null |
Het |
Atp6v1h |
T |
A |
1: 5,165,911 (GRCm39) |
L127Q |
probably damaging |
Het |
Bcl2l1 |
G |
A |
2: 152,671,870 (GRCm39) |
S14F |
probably damaging |
Het |
Bhmt1b |
T |
G |
18: 87,775,382 (GRCm39) |
F302V |
probably damaging |
Het |
Birc6 |
G |
A |
17: 74,930,853 (GRCm39) |
A2477T |
probably benign |
Het |
Bpifb9a |
G |
A |
2: 154,112,941 (GRCm39) |
A589T |
possibly damaging |
Het |
Casp9 |
C |
A |
4: 141,533,151 (GRCm39) |
T252K |
probably benign |
Het |
Cct4 |
G |
A |
11: 22,952,922 (GRCm39) |
D533N |
probably damaging |
Het |
Clcn6 |
A |
C |
4: 148,098,358 (GRCm39) |
I555S |
probably damaging |
Het |
Col4a4 |
A |
T |
1: 82,475,543 (GRCm39) |
|
probably null |
Het |
Cyp2d10 |
A |
T |
15: 82,288,129 (GRCm39) |
|
probably null |
Het |
D930048N14Rik |
A |
G |
11: 51,545,740 (GRCm39) |
|
probably benign |
Het |
Dhfr |
A |
G |
13: 92,504,815 (GRCm39) |
|
probably benign |
Het |
Dlg5 |
T |
C |
14: 24,204,764 (GRCm39) |
|
probably null |
Het |
Dnah11 |
T |
C |
12: 118,002,430 (GRCm39) |
E2240G |
probably damaging |
Het |
Dnmt3a |
A |
G |
12: 3,916,088 (GRCm39) |
E17G |
probably damaging |
Het |
Dock1 |
A |
G |
7: 134,384,138 (GRCm39) |
T670A |
probably benign |
Het |
Dpy19l2 |
A |
G |
9: 24,580,618 (GRCm39) |
M241T |
probably benign |
Het |
Dpy19l4 |
A |
G |
4: 11,296,034 (GRCm39) |
S212P |
probably damaging |
Het |
Ephb6 |
T |
C |
6: 41,593,040 (GRCm39) |
F426S |
probably damaging |
Het |
F5 |
A |
T |
1: 164,026,402 (GRCm39) |
D1658V |
probably benign |
Het |
Faah |
A |
T |
4: 115,856,755 (GRCm39) |
V469E |
probably damaging |
Het |
Fas |
T |
C |
19: 34,294,013 (GRCm39) |
C123R |
probably damaging |
Het |
Fhod1 |
T |
C |
8: 106,065,546 (GRCm39) |
|
probably benign |
Het |
Filip1 |
A |
G |
9: 79,805,589 (GRCm39) |
V55A |
probably benign |
Het |
Frmpd1 |
G |
A |
4: 45,273,197 (GRCm39) |
R372Q |
probably damaging |
Het |
Glyctk |
C |
T |
9: 106,034,806 (GRCm39) |
G87S |
probably damaging |
Het |
Golga3 |
T |
C |
5: 110,357,744 (GRCm39) |
L1080P |
probably damaging |
Het |
Gpr137 |
T |
C |
19: 6,915,812 (GRCm39) |
T281A |
probably benign |
Het |
Grap2 |
T |
A |
15: 80,532,612 (GRCm39) |
|
probably null |
Het |
Hlcs |
T |
C |
16: 94,069,151 (GRCm39) |
D170G |
probably damaging |
Het |
Hook1 |
A |
G |
4: 95,901,493 (GRCm39) |
T484A |
probably benign |
Het |
Hoxa5 |
T |
A |
6: 52,180,771 (GRCm39) |
H187L |
probably benign |
Het |
Inpp1 |
G |
T |
1: 52,829,253 (GRCm39) |
S255R |
probably benign |
Het |
Inpp4b |
T |
A |
8: 82,494,786 (GRCm39) |
V67E |
probably damaging |
Het |
Iqgap3 |
A |
G |
3: 87,994,616 (GRCm39) |
N105S |
probably damaging |
Het |
Kcnq5 |
A |
G |
1: 21,539,692 (GRCm39) |
|
probably null |
Het |
Klhl1 |
T |
C |
14: 96,477,649 (GRCm39) |
N473S |
probably benign |
Het |
Klk1b24 |
C |
A |
7: 43,840,785 (GRCm39) |
T71N |
probably benign |
Het |
Loxhd1 |
A |
G |
18: 77,468,269 (GRCm39) |
|
probably null |
Het |
Lrp1b |
C |
T |
2: 41,001,071 (GRCm39) |
R2165Q |
probably benign |
Het |
Lrp2bp |
A |
T |
8: 46,478,272 (GRCm39) |
Q328L |
possibly damaging |
Het |
Lrrc63 |
T |
A |
14: 75,344,829 (GRCm39) |
K419N |
possibly damaging |
Het |
Lrrc9 |
A |
G |
12: 72,547,533 (GRCm39) |
N150S |
probably benign |
Het |
Lrrn4 |
C |
A |
2: 132,713,995 (GRCm39) |
C317F |
probably damaging |
Het |
Ltbp2 |
T |
C |
12: 84,860,074 (GRCm39) |
S627G |
probably damaging |
Het |
Macf1 |
A |
T |
4: 123,386,947 (GRCm39) |
S1224T |
probably damaging |
Het |
Meis2 |
A |
C |
2: 115,889,151 (GRCm39) |
H200Q |
probably benign |
Het |
Mesd |
C |
A |
7: 83,544,790 (GRCm39) |
A80E |
probably benign |
Het |
Mtor |
G |
T |
4: 148,610,450 (GRCm39) |
|
probably benign |
Het |
Myo3a |
T |
C |
2: 22,467,939 (GRCm39) |
F398L |
probably benign |
Het |
Nagpa |
G |
T |
16: 5,019,392 (GRCm39) |
|
probably benign |
Het |
Nanp |
A |
G |
2: 150,872,749 (GRCm39) |
C60R |
probably benign |
Het |
Nectin2 |
T |
G |
7: 19,464,041 (GRCm39) |
M313L |
probably benign |
Het |
Nek4 |
C |
T |
14: 30,678,844 (GRCm39) |
H123Y |
probably damaging |
Het |
Nploc4 |
A |
G |
11: 120,299,607 (GRCm39) |
V371A |
probably damaging |
Het |
Ntrk3 |
T |
C |
7: 78,005,762 (GRCm39) |
|
probably benign |
Het |
Or11g7 |
A |
G |
14: 50,690,634 (GRCm39) |
T42A |
possibly damaging |
Het |
Or13c7b |
A |
G |
4: 43,820,723 (GRCm39) |
F213L |
probably benign |
Het |
Or52n4 |
T |
C |
7: 104,294,153 (GRCm39) |
N140S |
probably benign |
Het |
Or5b109 |
T |
A |
19: 13,212,265 (GRCm39) |
V217E |
possibly damaging |
Het |
Pcdh20 |
T |
A |
14: 88,706,673 (GRCm39) |
Q209L |
probably benign |
Het |
Pcdhb20 |
G |
A |
18: 37,637,750 (GRCm39) |
R92H |
probably damaging |
Het |
Pgap1 |
T |
C |
1: 54,567,714 (GRCm39) |
H377R |
probably benign |
Het |
Phyhipl |
G |
T |
10: 70,406,798 (GRCm39) |
P52Q |
probably damaging |
Het |
Plekhg4 |
T |
C |
8: 106,107,672 (GRCm39) |
|
probably benign |
Het |
Pwwp2a |
T |
A |
11: 43,596,383 (GRCm39) |
V516E |
possibly damaging |
Het |
Rack1 |
T |
C |
11: 48,692,586 (GRCm39) |
V69A |
probably damaging |
Het |
Rexo5 |
T |
A |
7: 119,400,581 (GRCm39) |
|
probably null |
Het |
Rnf123 |
T |
C |
9: 107,948,665 (GRCm39) |
|
probably benign |
Het |
Rock1 |
G |
T |
18: 10,072,863 (GRCm39) |
Q1161K |
possibly damaging |
Het |
Rps6ka2 |
T |
C |
17: 7,560,266 (GRCm39) |
L568P |
probably damaging |
Het |
Seh1l |
T |
C |
18: 67,917,054 (GRCm39) |
S78P |
probably damaging |
Het |
Serpinb3b |
A |
T |
1: 107,083,573 (GRCm39) |
|
probably null |
Het |
Setd1a |
T |
C |
7: 127,387,512 (GRCm39) |
|
probably benign |
Het |
Setx |
G |
T |
2: 29,030,401 (GRCm39) |
|
probably null |
Het |
Sh3bp1 |
T |
C |
15: 78,791,545 (GRCm39) |
|
probably benign |
Het |
Shc2 |
G |
T |
10: 79,467,136 (GRCm39) |
R146S |
probably damaging |
Het |
Skap2 |
T |
C |
6: 51,886,348 (GRCm39) |
T5A |
probably benign |
Het |
Skor2 |
A |
T |
18: 76,964,340 (GRCm39) |
|
probably benign |
Het |
Slc35a3 |
T |
C |
3: 116,480,983 (GRCm39) |
I93M |
probably benign |
Het |
Sohlh1 |
C |
T |
2: 25,733,359 (GRCm39) |
G295D |
probably damaging |
Het |
Speg |
A |
G |
1: 75,405,128 (GRCm39) |
|
probably benign |
Het |
Sult2a8 |
A |
C |
7: 14,150,208 (GRCm39) |
C168G |
probably benign |
Het |
Tax1bp1 |
T |
C |
6: 52,704,179 (GRCm39) |
|
probably benign |
Het |
Tbc1d4 |
T |
C |
14: 101,685,124 (GRCm39) |
I1176V |
possibly damaging |
Het |
Tcof1 |
A |
G |
18: 60,952,026 (GRCm39) |
|
probably benign |
Het |
Thada |
A |
T |
17: 84,744,104 (GRCm39) |
F735I |
possibly damaging |
Het |
Tle1 |
A |
C |
4: 72,058,068 (GRCm39) |
H52Q |
probably damaging |
Het |
Tmem101 |
A |
T |
11: 102,044,155 (GRCm39) |
V244E |
probably damaging |
Het |
Tnfrsf26 |
C |
A |
7: 143,171,668 (GRCm39) |
C95F |
probably damaging |
Het |
Uspl1 |
T |
C |
5: 149,150,842 (GRCm39) |
S482P |
probably benign |
Het |
Vmn2r118 |
G |
T |
17: 55,917,935 (GRCm39) |
N192K |
probably benign |
Het |
Vmn2r14 |
C |
T |
5: 109,368,195 (GRCm39) |
V266I |
possibly damaging |
Het |
Vmn2r51 |
A |
G |
7: 9,834,249 (GRCm39) |
I263T |
probably damaging |
Het |
Zfp937 |
T |
A |
2: 150,080,967 (GRCm39) |
C332* |
probably null |
Het |
Zscan21 |
T |
A |
5: 138,123,470 (GRCm39) |
S50T |
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 |
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 |
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'- AGTGAGCAGTTTACTAAGCAATGGCA -3'
(R):5'- CCCAGCAAGGGGTGGGGTTTAA -3'
Sequencing Primer
(F):5'- ACTAAGCAATGGCATAAAAATCTTG -3'
(R):5'- cctcacttcaattcctagcaac -3'
|
Posted On |
2014-05-23 |