Incidental Mutation 'R7657:Agl'
| ID |
591254 |
| 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 |
045733-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.345)
|
| Stock # |
R7657 (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 116572812 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 148
(H148R)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040603]
[ENSMUST00000159742]
[ENSMUST00000161336]
[ENSMUST00000162792]
|
| AlphaFold |
F8VPN4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040603
AA Change: H813R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000044012
Gene: ENSMUSG00000033400
AA Change: H813R
| 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: H813R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000143582
Gene: ENSMUSG00000033400
AA Change: H813R
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000123985
Gene: ENSMUSG00000033400
AA Change: H148R
| 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: H813R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000124149
Gene: ENSMUSG00000033400
AA Change: H813R
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (80/80) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310033P09Rik |
A |
G |
11: 59,099,337 (GRCm39) |
E28G |
possibly damaging |
Het |
| Acot6 |
G |
A |
12: 84,153,304 (GRCm39) |
G182D |
possibly damaging |
Het |
| Actl9 |
A |
G |
17: 33,652,014 (GRCm39) |
T25A |
probably benign |
Het |
| Adam26b |
G |
A |
8: 43,974,579 (GRCm39) |
T141I |
possibly damaging |
Het |
| Angptl1 |
A |
G |
1: 156,684,790 (GRCm39) |
I320V |
probably benign |
Het |
| Arhgef10 |
C |
T |
8: 15,029,893 (GRCm39) |
R932C |
probably damaging |
Het |
| Atp13a2 |
A |
G |
4: 140,719,815 (GRCm39) |
E91G |
possibly damaging |
Het |
| Bptf |
T |
A |
11: 106,965,555 (GRCm39) |
E1213V |
probably damaging |
Het |
| C530025M09Rik |
A |
G |
2: 149,672,541 (GRCm39) |
V198A |
unknown |
Het |
| Casd1 |
A |
T |
6: 4,619,773 (GRCm39) |
I173F |
probably benign |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Col1a2 |
A |
T |
6: 4,527,152 (GRCm39) |
K627M |
probably null |
Het |
| Ctcfl |
G |
A |
2: 172,955,449 (GRCm39) |
T271I |
possibly damaging |
Het |
| Dctn2 |
T |
C |
10: 127,102,383 (GRCm39) |
Y6H |
probably damaging |
Het |
| Denr |
T |
C |
5: 124,046,263 (GRCm39) |
V31A |
probably damaging |
Het |
| Entpd7 |
T |
C |
19: 43,713,906 (GRCm39) |
F422L |
possibly damaging |
Het |
| Fastkd5 |
G |
C |
2: 130,458,176 (GRCm39) |
P138R |
probably benign |
Het |
| Fmn1 |
G |
T |
2: 113,355,538 (GRCm39) |
A758S |
unknown |
Het |
| Fmo2 |
A |
G |
1: 162,716,413 (GRCm39) |
V58A |
probably damaging |
Het |
| Fmo6 |
A |
G |
1: 162,750,285 (GRCm39) |
I257T |
probably benign |
Het |
| Foxn1 |
T |
C |
11: 78,256,790 (GRCm39) |
T302A |
probably benign |
Het |
| Ganab |
C |
T |
19: 8,884,721 (GRCm39) |
L175F |
probably damaging |
Het |
| Gga1 |
A |
T |
15: 78,773,327 (GRCm39) |
|
probably null |
Het |
| Gjd3 |
G |
T |
11: 98,873,586 (GRCm39) |
S86* |
probably null |
Het |
| Gm1330 |
A |
G |
2: 148,841,154 (GRCm39) |
|
probably null |
Het |
| Gm18596 |
A |
C |
10: 77,577,947 (GRCm39) |
S176A |
unknown |
Het |
| Gnl2 |
A |
G |
4: 124,923,951 (GRCm39) |
S10G |
probably benign |
Het |
| Gpsm2 |
G |
A |
3: 108,608,061 (GRCm39) |
A239V |
probably damaging |
Het |
| Grik2 |
T |
C |
10: 49,659,247 (GRCm39) |
R37G |
probably benign |
Het |
| Grm3 |
A |
G |
5: 9,561,452 (GRCm39) |
|
probably null |
Het |
| Gtpbp3 |
T |
C |
8: 71,943,765 (GRCm39) |
L216P |
probably benign |
Het |
| Hhla1 |
T |
C |
15: 65,837,308 (GRCm39) |
T99A |
probably damaging |
Het |
| Igtp |
A |
T |
11: 58,097,654 (GRCm39) |
Q275L |
probably benign |
Het |
| Itga6 |
G |
A |
2: 71,676,595 (GRCm39) |
A993T |
probably benign |
Het |
| Jakmip3 |
T |
A |
7: 138,620,903 (GRCm39) |
I234N |
probably damaging |
Het |
| Kcnh7 |
A |
G |
2: 62,566,379 (GRCm39) |
F851L |
probably damaging |
Het |
| Krr1 |
A |
G |
10: 111,811,504 (GRCm39) |
Y66C |
probably damaging |
Het |
| Krt33a |
T |
A |
11: 99,906,693 (GRCm39) |
Q94L |
probably benign |
Het |
| Mat1a |
A |
T |
14: 40,844,476 (GRCm39) |
K369* |
probably null |
Het |
| Mbd1 |
T |
G |
18: 74,407,804 (GRCm39) |
L277R |
probably damaging |
Het |
| Mmp21 |
C |
T |
7: 133,280,562 (GRCm39) |
G136D |
probably benign |
Het |
| Mroh3 |
A |
G |
1: 136,109,532 (GRCm39) |
Y892H |
possibly damaging |
Het |
| Ncbp3 |
G |
A |
11: 72,964,193 (GRCm39) |
R381Q |
probably damaging |
Het |
| Nlrp2 |
T |
A |
7: 5,322,167 (GRCm39) |
I827L |
probably benign |
Het |
| Nrip1 |
T |
A |
16: 76,091,587 (GRCm39) |
|
probably null |
Het |
| Or2ak4 |
A |
T |
11: 58,648,755 (GRCm39) |
D88V |
probably benign |
Het |
| Or4f6 |
A |
G |
2: 111,839,093 (GRCm39) |
V146A |
probably benign |
Het |
| Or5w13 |
C |
T |
2: 87,523,336 (GRCm39) |
V297I |
probably damaging |
Het |
| Oxt |
C |
T |
2: 130,418,710 (GRCm39) |
P107L |
possibly damaging |
Het |
| Pcdhga2 |
G |
A |
18: 37,803,481 (GRCm39) |
V442M |
probably damaging |
Het |
| Phtf1 |
T |
G |
3: 103,876,429 (GRCm39) |
S10A |
probably benign |
Het |
| Plb1 |
A |
C |
5: 32,487,211 (GRCm39) |
N902T |
probably damaging |
Het |
| Plppr3 |
T |
C |
10: 79,702,272 (GRCm39) |
I267V |
probably benign |
Het |
| Pms2 |
C |
A |
5: 143,856,357 (GRCm39) |
H278Q |
possibly damaging |
Het |
| Pmvk |
T |
A |
3: 89,376,158 (GRCm39) |
S154T |
possibly damaging |
Het |
| Polr3b |
T |
A |
10: 84,491,855 (GRCm39) |
M338K |
probably damaging |
Het |
| Ppp1r21 |
T |
A |
17: 88,863,110 (GRCm39) |
I283N |
probably damaging |
Het |
| Ptprj |
A |
T |
2: 90,282,501 (GRCm39) |
|
probably null |
Het |
| Rft1 |
T |
A |
14: 30,388,724 (GRCm39) |
L216H |
probably damaging |
Het |
| Rpl3 |
G |
A |
15: 79,965,258 (GRCm39) |
P174S |
probably benign |
Het |
| Rtl1 |
T |
C |
12: 109,561,818 (GRCm39) |
D7G |
possibly damaging |
Het |
| Slc13a2 |
A |
G |
11: 78,289,223 (GRCm39) |
V496A |
probably damaging |
Het |
| Slc14a1 |
A |
G |
18: 78,156,879 (GRCm39) |
|
probably null |
Het |
| Slc8a3 |
T |
C |
12: 81,361,158 (GRCm39) |
R554G |
probably damaging |
Het |
| Spata31d1b |
T |
C |
13: 59,863,577 (GRCm39) |
S242P |
possibly damaging |
Het |
| Spocd1 |
G |
A |
4: 129,823,535 (GRCm39) |
V111I |
|
Het |
| Stxbp5l |
G |
A |
16: 37,030,534 (GRCm39) |
A479V |
probably null |
Het |
| Tasor2 |
A |
G |
13: 3,623,777 (GRCm39) |
S2058P |
probably damaging |
Het |
| Tmem238 |
C |
G |
7: 4,792,226 (GRCm39) |
G106R |
probably damaging |
Het |
| Trak1 |
T |
G |
9: 121,301,652 (GRCm39) |
Y803D |
probably damaging |
Het |
| Trim5 |
T |
C |
7: 103,925,884 (GRCm39) |
S226G |
possibly damaging |
Het |
| Trim6 |
T |
A |
7: 103,881,068 (GRCm39) |
D282E |
possibly damaging |
Het |
| Ube2e2 |
A |
G |
14: 18,586,997 (GRCm38) |
V121A |
probably benign |
Het |
| Ufd1 |
T |
G |
16: 18,636,713 (GRCm39) |
M77R |
probably benign |
Het |
| Unc13c |
C |
T |
9: 73,441,185 (GRCm39) |
|
probably null |
Het |
| Wfs1 |
A |
G |
5: 37,125,578 (GRCm39) |
S438P |
probably benign |
Het |
| Zbtb6 |
A |
C |
2: 37,319,087 (GRCm39) |
D280E |
probably benign |
Het |
| Zfp595 |
G |
A |
13: 67,465,817 (GRCm39) |
L152F |
probably damaging |
Het |
| Zfpm2 |
A |
G |
15: 40,966,671 (GRCm39) |
E1052G |
possibly damaging |
Het |
| Zmym5 |
A |
G |
14: 57,041,653 (GRCm39) |
V150A |
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 |
|
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 |
|
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'- GCGTGTGGATCGAGACTAAC -3'
(R):5'- TCTGGAAGCTAGAACTATTGAAAGG -3'
Sequencing Primer
(F):5'- CACCTGACATGGATCTTGGGAAC -3'
(R):5'- AAGCTAGAACTATTGAAAGGAACAC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation