Incidental Mutation 'R7426:Agl'
ID |
576049 |
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 |
045504-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.345)
|
Stock # |
R7426 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
116533648-116601815 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 116552404 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 510
(L510P)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040603]
[ENSMUST00000159742]
[ENSMUST00000161336]
[ENSMUST00000162792]
|
AlphaFold |
F8VPN4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040603
AA Change: L1175P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000044012 Gene: ENSMUSG00000033400 AA Change: L1175P
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: ENSMUST00000159742
AA Change: L1175P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000143582 Gene: ENSMUSG00000033400 AA Change: L1175P
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 |
|
SMART Domains |
Protein: ENSMUSP00000123985 Gene: ENSMUSG00000033400 AA Change: L510P
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: L1175P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124149 Gene: ENSMUSG00000033400 AA Change: L1175P
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
97% (114/118) |
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: 117 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
C |
A |
7: 119,945,221 (GRCm39) |
N432K |
possibly damaging |
Het |
Abitram |
A |
G |
4: 56,804,230 (GRCm39) |
I82V |
probably null |
Het |
Adamtsl5 |
G |
A |
10: 80,180,693 (GRCm39) |
T123I |
probably benign |
Het |
Aff4 |
T |
C |
11: 53,263,702 (GRCm39) |
S241P |
probably damaging |
Het |
Aox1 |
A |
T |
1: 58,329,142 (GRCm39) |
K196* |
probably null |
Het |
Arhgef37 |
A |
G |
18: 61,637,456 (GRCm39) |
L402P |
probably damaging |
Het |
Arid4b |
T |
C |
13: 14,355,891 (GRCm39) |
|
probably null |
Het |
Atp5pb |
A |
G |
3: 105,851,118 (GRCm39) |
V193A |
probably benign |
Het |
Atp8b3 |
A |
G |
10: 80,365,463 (GRCm39) |
|
probably null |
Het |
Baz2a |
G |
T |
10: 127,951,947 (GRCm39) |
R555L |
probably damaging |
Het |
Casp4 |
G |
T |
9: 5,321,345 (GRCm39) |
S32I |
possibly damaging |
Het |
Cd300lb |
A |
G |
11: 114,819,128 (GRCm39) |
V167A |
probably damaging |
Het |
Cdc42bpg |
C |
T |
19: 6,368,428 (GRCm39) |
T1042I |
probably damaging |
Het |
Ceacam20 |
T |
C |
7: 19,704,159 (GRCm39) |
F70S |
probably damaging |
Het |
Cep162 |
C |
T |
9: 87,074,819 (GRCm39) |
V1388I |
probably damaging |
Het |
Cfap65 |
A |
G |
1: 74,959,585 (GRCm39) |
V855A |
possibly damaging |
Het |
Chil3 |
G |
T |
3: 106,063,022 (GRCm39) |
D189E |
probably benign |
Het |
Cln3 |
A |
G |
7: 126,180,912 (GRCm39) |
I43T |
probably benign |
Het |
Cntnap5a |
A |
G |
1: 116,370,110 (GRCm39) |
Q909R |
probably benign |
Het |
Ctsd |
C |
A |
7: 141,937,278 (GRCm39) |
A77S |
probably damaging |
Het |
Dnah12 |
T |
A |
14: 26,445,781 (GRCm39) |
S781T |
probably benign |
Het |
Dnah17 |
T |
A |
11: 117,981,543 (GRCm39) |
Q1716L |
probably null |
Het |
Dock3 |
C |
A |
9: 106,772,782 (GRCm39) |
M490I |
probably benign |
Het |
Erg |
T |
C |
16: 95,260,015 (GRCm39) |
|
probably null |
Het |
Farp2 |
A |
T |
1: 93,548,950 (GRCm39) |
M1019L |
possibly damaging |
Het |
Fcgbp |
A |
G |
7: 27,785,949 (GRCm39) |
K462R |
probably benign |
Het |
Fn1 |
A |
T |
1: 71,688,384 (GRCm39) |
N173K |
probably damaging |
Het |
Fsip2 |
A |
T |
2: 82,810,441 (GRCm39) |
L2253F |
probably damaging |
Het |
Gabrd |
C |
T |
4: 155,469,970 (GRCm39) |
R413H |
possibly damaging |
Het |
Galnt5 |
A |
T |
2: 57,907,151 (GRCm39) |
D538V |
probably damaging |
Het |
Gje1 |
T |
A |
10: 14,592,223 (GRCm39) |
L186F |
probably damaging |
Het |
Gm16686 |
A |
T |
4: 88,673,563 (GRCm39) |
C89S |
unknown |
Het |
Gna15 |
G |
T |
10: 81,338,831 (GRCm39) |
A336E |
probably benign |
Het |
Golga4 |
C |
T |
9: 118,388,563 (GRCm39) |
S1895L |
probably benign |
Het |
Gon4l |
A |
T |
3: 88,814,829 (GRCm39) |
M1933L |
probably benign |
Het |
Gpr183 |
T |
C |
14: 122,192,156 (GRCm39) |
S122G |
possibly damaging |
Het |
Gtf2h4 |
G |
A |
17: 35,980,250 (GRCm39) |
T348I |
probably damaging |
Het |
Hace1 |
T |
C |
10: 45,481,636 (GRCm39) |
Y120H |
probably damaging |
Het |
Hivep2 |
C |
T |
10: 14,007,061 (GRCm39) |
H1220Y |
possibly damaging |
Het |
Hmx2 |
T |
C |
7: 131,156,232 (GRCm39) |
F66S |
probably benign |
Het |
Hoxd12 |
A |
T |
2: 74,505,569 (GRCm39) |
S47C |
possibly damaging |
Het |
Hp |
C |
A |
8: 110,301,832 (GRCm39) |
|
probably null |
Het |
Idh3a |
T |
A |
9: 54,508,492 (GRCm39) |
D355E |
probably benign |
Het |
Itga2b |
A |
T |
11: 102,347,120 (GRCm39) |
M921K |
probably benign |
Het |
Jcad |
A |
G |
18: 4,675,529 (GRCm39) |
D1097G |
probably benign |
Het |
Kdm5b |
A |
T |
1: 134,523,571 (GRCm39) |
T249S |
probably benign |
Het |
Klhl11 |
G |
T |
11: 100,355,178 (GRCm39) |
H214Q |
probably benign |
Het |
L3hypdh |
A |
T |
12: 72,131,705 (GRCm39) |
Y76N |
probably damaging |
Het |
Lama4 |
G |
T |
10: 38,921,751 (GRCm39) |
R424L |
possibly damaging |
Het |
Lepr |
A |
G |
4: 101,602,853 (GRCm39) |
I214V |
probably benign |
Het |
Lipc |
G |
T |
9: 70,709,450 (GRCm39) |
N432K |
probably benign |
Het |
Lipm |
C |
T |
19: 34,093,598 (GRCm39) |
A216V |
possibly damaging |
Het |
Lrrc23 |
A |
G |
6: 124,756,088 (GRCm39) |
S2P |
unknown |
Het |
Lyst |
T |
A |
13: 13,812,109 (GRCm39) |
D840E |
probably benign |
Het |
Mmp23 |
T |
A |
4: 155,736,041 (GRCm39) |
T204S |
probably damaging |
Het |
Mms19 |
T |
C |
19: 41,936,717 (GRCm39) |
T785A |
probably benign |
Het |
Mov10 |
A |
T |
3: 104,707,368 (GRCm39) |
|
probably null |
Het |
Mtf2 |
A |
G |
5: 108,248,836 (GRCm39) |
T383A |
probably benign |
Het |
Myo5c |
G |
A |
9: 75,158,809 (GRCm39) |
|
probably null |
Het |
Nfxl1 |
A |
T |
5: 72,681,517 (GRCm39) |
C671* |
probably null |
Het |
Npepps |
A |
G |
11: 97,103,982 (GRCm39) |
V813A |
probably benign |
Het |
Nrn1 |
C |
A |
13: 36,910,825 (GRCm39) |
W69L |
probably damaging |
Het |
Oprd1 |
A |
C |
4: 131,841,378 (GRCm39) |
D193E |
probably benign |
Het |
Or2ag1b |
T |
A |
7: 106,288,417 (GRCm39) |
I174F |
possibly damaging |
Het |
Or52p1 |
C |
T |
7: 104,267,059 (GRCm39) |
H58Y |
probably damaging |
Het |
Or55b3 |
A |
T |
7: 102,126,883 (GRCm39) |
Y65N |
probably damaging |
Het |
Or56b2j |
T |
A |
7: 104,352,796 (GRCm39) |
D7E |
probably benign |
Het |
Or6c202 |
A |
G |
10: 128,996,620 (GRCm39) |
Y78H |
possibly damaging |
Het |
Or6c209 |
T |
C |
10: 129,483,027 (GRCm39) |
I10T |
probably damaging |
Het |
Or6k6 |
A |
C |
1: 173,944,753 (GRCm39) |
F276L |
probably benign |
Het |
Pcdhac1 |
G |
T |
18: 37,225,550 (GRCm39) |
V788L |
probably benign |
Het |
Pcdhb11 |
G |
A |
18: 37,556,313 (GRCm39) |
V548M |
probably damaging |
Het |
Pde4c |
A |
T |
8: 71,201,621 (GRCm39) |
E517V |
possibly damaging |
Het |
Pdzd7 |
T |
C |
19: 45,022,086 (GRCm39) |
R521G |
possibly damaging |
Het |
Pik3c2a |
T |
A |
7: 115,972,089 (GRCm39) |
K780N |
probably damaging |
Het |
Plb1 |
T |
G |
5: 32,478,591 (GRCm39) |
|
probably null |
Het |
Plcb4 |
T |
A |
2: 135,842,139 (GRCm39) |
L1041Q |
probably benign |
Het |
Pnpla6 |
G |
A |
8: 3,566,540 (GRCm39) |
|
probably null |
Het |
Ppat |
A |
T |
5: 77,063,826 (GRCm39) |
N441K |
probably damaging |
Het |
Ppp1r1b |
G |
A |
11: 98,246,305 (GRCm39) |
A132T |
probably damaging |
Het |
Prl2c2 |
A |
C |
13: 13,172,065 (GRCm39) |
|
probably null |
Het |
Prr14 |
T |
C |
7: 127,074,458 (GRCm39) |
I330T |
probably benign |
Het |
Pycr1 |
T |
C |
11: 120,533,749 (GRCm39) |
D36G |
probably benign |
Het |
Rabep2 |
T |
A |
7: 126,037,891 (GRCm39) |
I221N |
probably damaging |
Het |
Rad23b |
A |
G |
4: 55,370,469 (GRCm39) |
D165G |
probably benign |
Het |
Reln |
G |
A |
5: 22,176,951 (GRCm39) |
T1905I |
probably damaging |
Het |
Ripor2 |
T |
C |
13: 24,878,188 (GRCm39) |
V321A |
probably benign |
Het |
Rnf43 |
A |
G |
11: 87,622,678 (GRCm39) |
D466G |
probably benign |
Het |
Rpl6 |
A |
T |
5: 121,343,655 (GRCm39) |
R63W |
possibly damaging |
Het |
S100a14 |
A |
G |
3: 90,435,511 (GRCm39) |
T102A |
probably benign |
Het |
Samd11 |
C |
A |
4: 156,333,857 (GRCm39) |
V195L |
probably benign |
Het |
Scaper |
G |
A |
9: 55,669,561 (GRCm39) |
Q372* |
probably null |
Het |
Sec14l5 |
G |
T |
16: 4,998,739 (GRCm39) |
C593F |
probably damaging |
Het |
Sema6d |
T |
C |
2: 124,496,078 (GRCm39) |
Y41H |
probably damaging |
Het |
Serac1 |
G |
A |
17: 6,119,589 (GRCm39) |
R114W |
probably damaging |
Het |
Slc12a4 |
T |
C |
8: 106,677,468 (GRCm39) |
E388G |
probably benign |
Het |
Smarcd3 |
T |
C |
5: 24,800,810 (GRCm39) |
T164A |
probably benign |
Het |
Smtn |
C |
A |
11: 3,480,249 (GRCm39) |
R324L |
probably benign |
Het |
Spata31d1c |
C |
T |
13: 65,183,175 (GRCm39) |
P239L |
probably benign |
Het |
Srcap |
T |
C |
7: 127,137,689 (GRCm39) |
V1013A |
possibly damaging |
Het |
Sv2b |
T |
C |
7: 74,773,812 (GRCm39) |
N553S |
probably damaging |
Het |
Tex35 |
T |
A |
1: 156,932,656 (GRCm39) |
N52I |
probably damaging |
Het |
Ticrr |
T |
C |
7: 79,343,734 (GRCm39) |
S1200P |
probably benign |
Het |
Tmem19 |
A |
G |
10: 115,183,604 (GRCm39) |
L125P |
probably damaging |
Het |
Trio |
A |
G |
15: 27,856,193 (GRCm39) |
V666A |
probably benign |
Het |
Ttn |
T |
C |
2: 76,747,627 (GRCm39) |
D4474G |
probably benign |
Het |
Usp43 |
A |
T |
11: 67,783,842 (GRCm39) |
S368T |
possibly damaging |
Het |
Vmn2r72 |
T |
A |
7: 85,400,348 (GRCm39) |
M234L |
probably benign |
Het |
Wdr93 |
T |
A |
7: 79,427,055 (GRCm39) |
|
probably null |
Het |
Wrap73 |
T |
A |
4: 154,240,584 (GRCm39) |
W359R |
probably damaging |
Het |
Ywhah |
A |
G |
5: 33,183,985 (GRCm39) |
I63V |
probably benign |
Het |
Zbtb7b |
G |
T |
3: 89,288,366 (GRCm39) |
P151T |
probably damaging |
Het |
Zfp318 |
A |
G |
17: 46,710,995 (GRCm39) |
N906S |
probably damaging |
Het |
Zfp423 |
C |
A |
8: 88,507,341 (GRCm39) |
C1001F |
probably damaging |
Het |
Zmym1 |
A |
G |
4: 126,943,191 (GRCm39) |
I399T |
possibly damaging |
Het |
Zmynd15 |
G |
A |
11: 70,353,014 (GRCm39) |
G296D |
probably benign |
Het |
Znfx1 |
T |
A |
2: 166,890,475 (GRCm39) |
I670F |
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 |
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 |
|
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'- CACACTCTGGGTTTAAGCGAAC -3'
(R):5'- AATGGCCCATTTGCTTCTATTG -3'
Sequencing Primer
(F):5'- TCTCACTGTGTTGACACTAAAGG -3'
(R):5'- TGTTTCAGGAACATCATTTTAGCG -3'
|
Posted On |
2019-10-07 |