Incidental Mutation 'R1432:Agl'
| ID |
162286 |
| 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 |
039487-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.345)
|
| Stock # |
R1432 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
116533648-116601815 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116540342 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 1424
(Y1424C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124149
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040603]
[ENSMUST00000161336]
[ENSMUST00000162792]
|
| AlphaFold |
F8VPN4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040603
AA Change: Y1424C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044012
Gene: ENSMUSG00000033400
AA Change: Y1424C
| 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 |
unknown
Transcript: ENSMUST00000160484
AA Change: Y759C
|
| SMART Domains |
Protein: ENSMUSP00000123985
Gene: ENSMUSG00000033400
AA Change: Y759C
| 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: Y1424C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124149
Gene: ENSMUSG00000033400
AA Change: Y1424C
| 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 |
0.9627 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.4%
- 20x: 86.1%
|
| Validation Efficiency |
98% (90/92) |
| 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: 88 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
G |
12: 71,217,361 (GRCm39) |
|
probably null |
Het |
| 9130401M01Rik |
A |
T |
15: 57,892,256 (GRCm39) |
L117Q |
probably damaging |
Het |
| Abcb1b |
A |
G |
5: 8,887,771 (GRCm39) |
K886E |
possibly damaging |
Het |
| Acaa2 |
A |
T |
18: 74,920,198 (GRCm39) |
I9F |
probably damaging |
Het |
| Acap2 |
A |
T |
16: 30,929,901 (GRCm39) |
S386T |
probably damaging |
Het |
| Acsm2 |
A |
T |
7: 119,172,798 (GRCm39) |
I138F |
possibly damaging |
Het |
| Aoc1l1 |
T |
A |
6: 48,952,588 (GRCm39) |
F171Y |
probably damaging |
Het |
| Apc2 |
T |
C |
10: 80,148,183 (GRCm39) |
V1079A |
probably benign |
Het |
| Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
| Armc8 |
C |
T |
9: 99,405,185 (GRCm39) |
|
probably benign |
Het |
| Catsperb |
A |
G |
12: 101,588,476 (GRCm39) |
Y953C |
probably damaging |
Het |
| Cdk13 |
G |
A |
13: 17,893,001 (GRCm39) |
A720V |
probably damaging |
Het |
| Chka |
T |
C |
19: 3,924,809 (GRCm39) |
|
probably benign |
Het |
| Clcc1 |
T |
C |
3: 108,575,418 (GRCm39) |
I165T |
probably benign |
Het |
| Cndp1 |
G |
A |
18: 84,652,777 (GRCm39) |
|
probably benign |
Het |
| Dip2c |
C |
A |
13: 9,603,340 (GRCm39) |
P297Q |
probably damaging |
Het |
| Dnah17 |
A |
T |
11: 117,914,153 (GRCm39) |
W4429R |
probably damaging |
Het |
| Dram2 |
T |
C |
3: 106,478,082 (GRCm39) |
V138A |
possibly damaging |
Het |
| Dus4l |
T |
C |
12: 31,698,770 (GRCm39) |
N78S |
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Ebf1 |
T |
C |
11: 44,895,533 (GRCm39) |
|
probably benign |
Het |
| Epm2a |
T |
A |
10: 11,266,587 (GRCm39) |
Y111N |
probably damaging |
Het |
| Gm773 |
T |
C |
X: 55,247,377 (GRCm39) |
T52A |
probably benign |
Het |
| Gpam |
C |
A |
19: 55,067,693 (GRCm39) |
M483I |
probably damaging |
Het |
| Gpr12 |
T |
C |
5: 146,520,235 (GRCm39) |
H229R |
probably damaging |
Het |
| Gpr149 |
T |
C |
3: 62,438,439 (GRCm39) |
T573A |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Hells |
T |
A |
19: 38,945,628 (GRCm39) |
|
probably null |
Het |
| Herc1 |
T |
A |
9: 66,372,751 (GRCm39) |
N3102K |
probably benign |
Het |
| Herc3 |
A |
T |
6: 58,893,827 (GRCm39) |
T968S |
possibly damaging |
Het |
| Ift88 |
A |
G |
14: 57,674,736 (GRCm39) |
Y69C |
probably benign |
Het |
| Incenp |
G |
A |
19: 9,862,890 (GRCm39) |
T388M |
unknown |
Het |
| Jrkl |
A |
G |
9: 13,245,337 (GRCm39) |
F108S |
probably benign |
Het |
| Khdc1a |
A |
G |
1: 21,420,542 (GRCm39) |
E54G |
possibly damaging |
Het |
| Kif6 |
T |
A |
17: 49,927,728 (GRCm39) |
F58L |
probably damaging |
Het |
| Klk14 |
T |
C |
7: 43,344,342 (GRCm39) |
S218P |
probably damaging |
Het |
| Kmt2e |
T |
C |
5: 23,655,319 (GRCm39) |
M19T |
probably benign |
Het |
| Llgl1 |
G |
T |
11: 60,599,380 (GRCm39) |
G454C |
probably damaging |
Het |
| Lyrm4 |
A |
G |
13: 36,276,898 (GRCm39) |
V33A |
probably benign |
Het |
| Mcam |
C |
T |
9: 44,052,588 (GRCm39) |
R606C |
probably damaging |
Het |
| Mgam |
T |
A |
6: 40,733,301 (GRCm39) |
M692K |
probably damaging |
Het |
| Mmp28 |
C |
T |
11: 83,333,765 (GRCm39) |
R392H |
probably damaging |
Het |
| Mpdz |
G |
A |
4: 81,210,788 (GRCm39) |
T1699M |
probably damaging |
Het |
| Mrps11 |
T |
C |
7: 78,433,310 (GRCm39) |
|
probably benign |
Het |
| Mrtfb |
A |
G |
16: 13,218,866 (GRCm39) |
N504S |
probably benign |
Het |
| Msmo1 |
A |
G |
8: 65,180,650 (GRCm39) |
|
probably benign |
Het |
| Mst1 |
A |
G |
9: 107,961,403 (GRCm39) |
E571G |
probably benign |
Het |
| Myh14 |
T |
C |
7: 44,265,723 (GRCm39) |
E1585G |
probably damaging |
Het |
| Myrfl |
A |
G |
10: 116,613,332 (GRCm39) |
C824R |
probably damaging |
Het |
| Ncapd3 |
C |
T |
9: 26,981,168 (GRCm39) |
|
probably benign |
Het |
| Nlrp4a |
G |
GGTTCTTC |
7: 26,163,622 (GRCm39) |
|
probably null |
Het |
| Nos1 |
C |
T |
5: 118,087,684 (GRCm39) |
|
probably benign |
Het |
| Notch3 |
T |
C |
17: 32,383,198 (GRCm39) |
S47G |
probably benign |
Het |
| Npsr1 |
A |
G |
9: 24,221,371 (GRCm39) |
Y122C |
probably damaging |
Het |
| Or10ak12 |
T |
C |
4: 118,666,435 (GRCm39) |
M209V |
probably benign |
Het |
| Or1j11 |
C |
T |
2: 36,311,655 (GRCm39) |
L82F |
probably damaging |
Het |
| Or5a1 |
G |
T |
19: 12,097,603 (GRCm39) |
R158S |
possibly damaging |
Het |
| Or6c1b |
C |
T |
10: 129,272,807 (GRCm39) |
T42I |
probably damaging |
Het |
| Or6k2 |
T |
A |
1: 173,986,483 (GRCm39) |
V48E |
possibly damaging |
Het |
| Or8b9 |
T |
A |
9: 37,766,548 (GRCm39) |
L145M |
possibly damaging |
Het |
| Otog |
G |
T |
7: 45,950,007 (GRCm39) |
V2490F |
probably damaging |
Het |
| Pibf1 |
T |
C |
14: 99,350,425 (GRCm39) |
V191A |
probably benign |
Het |
| Pip |
A |
G |
6: 41,826,852 (GRCm39) |
M66V |
probably benign |
Het |
| Plxna2 |
C |
T |
1: 194,449,771 (GRCm39) |
R830C |
probably benign |
Het |
| Prkca |
A |
T |
11: 107,830,346 (GRCm39) |
V248E |
probably benign |
Het |
| Prmt7 |
T |
A |
8: 106,963,916 (GRCm39) |
L253* |
probably null |
Het |
| Prrc2a |
G |
T |
17: 35,372,888 (GRCm39) |
|
probably benign |
Het |
| Rasgrf1 |
A |
G |
9: 89,894,853 (GRCm39) |
D1091G |
probably benign |
Het |
| Rbm7 |
C |
A |
9: 48,401,245 (GRCm39) |
G161V |
probably benign |
Het |
| Scn1a |
A |
T |
2: 66,152,773 (GRCm39) |
I736N |
probably damaging |
Het |
| Skint6 |
A |
G |
4: 112,726,721 (GRCm39) |
|
probably benign |
Het |
| Slc22a2 |
C |
T |
17: 12,803,195 (GRCm39) |
H10Y |
possibly damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Stam2 |
A |
G |
2: 52,604,821 (GRCm39) |
|
probably benign |
Het |
| Stk40 |
T |
C |
4: 126,030,626 (GRCm39) |
L282P |
probably damaging |
Het |
| Tas2r110 |
A |
G |
6: 132,845,331 (GRCm39) |
N121D |
probably damaging |
Het |
| Tbc1d32 |
A |
G |
10: 55,893,758 (GRCm39) |
Y1272H |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,665,970 (GRCm39) |
F164S |
probably damaging |
Het |
| Tmem131l |
T |
C |
3: 83,836,021 (GRCm39) |
D696G |
probably damaging |
Het |
| Trdmt1 |
T |
C |
2: 13,524,657 (GRCm39) |
Y266C |
probably damaging |
Het |
| Trim5 |
G |
T |
7: 103,928,726 (GRCm39) |
H72N |
probably benign |
Het |
| Trim5 |
A |
C |
7: 103,928,728 (GRCm39) |
L71R |
probably benign |
Het |
| Twf2 |
T |
A |
9: 106,092,012 (GRCm39) |
|
probably benign |
Het |
| Ubap2l |
T |
C |
3: 89,926,635 (GRCm39) |
T580A |
probably benign |
Het |
| Ugt1a10 |
C |
T |
1: 88,143,982 (GRCm39) |
R201C |
probably damaging |
Het |
| Unc5a |
A |
G |
13: 55,152,285 (GRCm39) |
|
probably benign |
Het |
| Vmn2r85 |
T |
C |
10: 130,261,155 (GRCm39) |
N394S |
possibly damaging |
Het |
| Wrn |
A |
T |
8: 33,809,169 (GRCm39) |
|
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 |
|
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 |
|
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'- TCTTCGCAGCAGTCTCTGGACC -3'
(R):5'- AAGCTCCTTGAAGACAAGATGCCTC -3'
Sequencing Primer
(F):5'- AGTCTCTGGACCCATCATTTTGG -3'
(R):5'- CATACATATTTCTGTGAAGGCTCC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation