Incidental Mutation 'R7559:Agl'
| ID |
584930 |
| 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 |
045653-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.360)
|
| Stock # |
R7559 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
116533648-116601815 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116545764 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 679
(D679G)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040603]
[ENSMUST00000159742]
[ENSMUST00000161336]
[ENSMUST00000162792]
|
| AlphaFold |
F8VPN4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040603
AA Change: D1344G
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000044012
Gene: ENSMUSG00000033400
AA Change: D1344G
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000123985
Gene: ENSMUSG00000033400
AA Change: D679G
| 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: D1344G
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000124149
Gene: ENSMUSG00000033400
AA Change: D1344G
| 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 |
0.1677 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
99% (68/69) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adap1 |
C |
A |
5: 139,265,295 (GRCm39) |
R206L |
probably damaging |
Het |
| Adcy3 |
A |
G |
12: 4,248,440 (GRCm39) |
K501E |
probably benign |
Het |
| Ankrd10 |
A |
T |
8: 11,662,548 (GRCm39) |
V395D |
probably damaging |
Het |
| Ano5 |
A |
G |
7: 51,224,636 (GRCm39) |
I531V |
probably damaging |
Het |
| Apol9a |
T |
A |
15: 77,288,761 (GRCm39) |
H202L |
possibly damaging |
Het |
| Atp6v1c2 |
A |
C |
12: 17,351,215 (GRCm39) |
I105M |
probably benign |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Coro1b |
T |
C |
19: 4,200,220 (GRCm39) |
|
probably null |
Het |
| D930020B18Rik |
A |
G |
10: 121,492,131 (GRCm39) |
|
probably benign |
Het |
| Dcst2 |
T |
C |
3: 89,276,021 (GRCm39) |
F384S |
possibly damaging |
Het |
| Ddx39a |
T |
A |
8: 84,447,595 (GRCm39) |
F147I |
possibly damaging |
Het |
| Drosha |
A |
G |
15: 12,842,508 (GRCm39) |
E393G |
probably damaging |
Het |
| Etfdh |
T |
C |
3: 79,530,886 (GRCm39) |
Y45C |
probably damaging |
Het |
| Fam20c |
G |
T |
5: 138,778,954 (GRCm39) |
E287D |
possibly damaging |
Het |
| Flnc |
T |
A |
6: 29,459,009 (GRCm39) |
D2463E |
probably damaging |
Het |
| Flt4 |
A |
T |
11: 49,535,198 (GRCm39) |
I1209F |
possibly damaging |
Het |
| Foxp1 |
T |
C |
6: 98,922,521 (GRCm39) |
D437G |
unknown |
Het |
| Fras1 |
T |
C |
5: 96,888,713 (GRCm39) |
V2753A |
possibly damaging |
Het |
| Ftsj3 |
T |
C |
11: 106,143,813 (GRCm39) |
D277G |
possibly damaging |
Het |
| Gad1 |
T |
C |
2: 70,394,256 (GRCm39) |
|
probably null |
Het |
| Gal3st2c |
A |
G |
1: 93,937,075 (GRCm39) |
Y340C |
probably damaging |
Het |
| Gbp9 |
A |
G |
5: 105,232,975 (GRCm39) |
F226L |
probably damaging |
Het |
| Gm11992 |
C |
T |
11: 9,002,747 (GRCm39) |
P37S |
possibly damaging |
Het |
| Gm19668 |
G |
T |
10: 77,634,572 (GRCm39) |
C132* |
probably null |
Het |
| Hdac3 |
A |
T |
18: 38,078,569 (GRCm39) |
F139I |
possibly damaging |
Het |
| Hectd4 |
A |
G |
5: 121,453,573 (GRCm39) |
|
probably null |
Het |
| Helz |
T |
A |
11: 107,491,104 (GRCm39) |
S162T |
possibly damaging |
Het |
| Hspb6 |
C |
A |
7: 30,253,712 (GRCm39) |
S75Y |
probably damaging |
Het |
| Il17rb |
T |
A |
14: 29,719,000 (GRCm39) |
I361F |
probably damaging |
Het |
| Iqsec3 |
A |
T |
6: 121,364,739 (GRCm39) |
V850D |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,924,487 (GRCm39) |
E1840G |
possibly damaging |
Het |
| Lamc3 |
A |
G |
2: 31,812,380 (GRCm39) |
K939R |
probably benign |
Het |
| Lmo7 |
C |
T |
14: 102,124,662 (GRCm39) |
R496* |
probably null |
Het |
| Lsm14a |
A |
T |
7: 34,052,826 (GRCm39) |
C374* |
probably null |
Het |
| Luc7l |
T |
C |
17: 26,474,089 (GRCm39) |
L49P |
probably damaging |
Het |
| Mdga2 |
A |
C |
12: 66,520,003 (GRCm39) |
C988G |
probably damaging |
Het |
| Mtf1 |
T |
C |
4: 124,713,999 (GRCm39) |
V136A |
probably damaging |
Het |
| Myo7b |
T |
A |
18: 32,116,413 (GRCm39) |
I1016F |
probably benign |
Het |
| Nadsyn1 |
C |
A |
7: 143,361,804 (GRCm39) |
A306S |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,356,204 (GRCm39) |
Q1137R |
probably benign |
Het |
| Naip5 |
G |
T |
13: 100,356,205 (GRCm39) |
Q1137K |
not run |
Het |
| Nr4a1 |
T |
C |
15: 101,168,780 (GRCm39) |
V272A |
probably damaging |
Het |
| Opcml |
A |
T |
9: 28,814,620 (GRCm39) |
T291S |
probably benign |
Het |
| Or13a24 |
T |
A |
7: 140,154,356 (GRCm39) |
C97S |
probably damaging |
Het |
| Or52u1 |
C |
A |
7: 104,237,087 (GRCm39) |
H25Q |
probably damaging |
Het |
| Or56b1b |
C |
T |
7: 108,164,763 (GRCm39) |
A80T |
probably damaging |
Het |
| Osbp2 |
C |
G |
11: 3,662,493 (GRCm39) |
K196N |
probably damaging |
Het |
| Otoa |
T |
C |
7: 120,743,149 (GRCm39) |
V792A |
probably damaging |
Het |
| Pcmtd1 |
A |
G |
1: 7,239,766 (GRCm39) |
D245G |
probably damaging |
Het |
| Pcnx1 |
T |
C |
12: 82,039,896 (GRCm39) |
V1428A |
unknown |
Het |
| Pik3r4 |
A |
G |
9: 105,555,352 (GRCm39) |
H1103R |
probably benign |
Het |
| Pjvk |
C |
T |
2: 76,486,154 (GRCm39) |
H185Y |
probably benign |
Het |
| Pkd1l3 |
T |
C |
8: 110,351,072 (GRCm39) |
V639A |
probably benign |
Het |
| Pklr |
T |
C |
3: 89,050,365 (GRCm39) |
S405P |
probably damaging |
Het |
| Pla2g12a |
T |
A |
3: 129,672,569 (GRCm39) |
Y68N |
probably damaging |
Het |
| Proz |
A |
G |
8: 13,113,455 (GRCm39) |
H92R |
probably benign |
Het |
| Sec23ip |
G |
T |
7: 128,379,074 (GRCm39) |
V844F |
possibly damaging |
Het |
| Sema3f |
A |
G |
9: 107,561,777 (GRCm39) |
V520A |
possibly damaging |
Het |
| Serpinb12 |
A |
G |
1: 106,881,453 (GRCm39) |
I197V |
probably damaging |
Het |
| Sim2 |
A |
T |
16: 93,910,218 (GRCm39) |
I207F |
possibly damaging |
Het |
| Slc15a2 |
C |
T |
16: 36,572,259 (GRCm39) |
V702I |
probably benign |
Het |
| Slc35f4 |
T |
C |
14: 49,541,732 (GRCm39) |
I341V |
probably benign |
Het |
| Spam1 |
A |
G |
6: 24,800,452 (GRCm39) |
Y397C |
probably damaging |
Het |
| Spire1 |
A |
T |
18: 67,634,187 (GRCm39) |
M417K |
probably benign |
Het |
| Srcap |
T |
C |
7: 127,129,722 (GRCm39) |
S515P |
unknown |
Het |
| Tfrc |
T |
A |
16: 32,440,235 (GRCm39) |
|
probably null |
Het |
| Topors |
A |
G |
4: 40,261,401 (GRCm39) |
S628P |
unknown |
Het |
| Trim71 |
T |
C |
9: 114,342,110 (GRCm39) |
Y724C |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,623,199 (GRCm39) |
V15413I |
probably damaging |
Het |
| Vmn1r21 |
A |
T |
6: 57,821,227 (GRCm39) |
N72K |
probably damaging |
Het |
| Vmn2r80 |
A |
T |
10: 79,030,459 (GRCm39) |
M762L |
probably benign |
Het |
| Wdr62 |
A |
G |
7: 29,970,198 (GRCm39) |
I203T |
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 |
|
|
R7426:Agl
|
UTSW |
3 |
116,552,404 (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'- GCCCTTAGTAGAGTTACCATGAC -3'
(R):5'- CTCCATCTAAAGCAGCCACATTTTC -3'
Sequencing Primer
(F):5'- ACCACGACCATTGCTATG -3'
(R):5'- GCAGCCACATTTTCTAAAACATAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation