Incidental Mutation 'R0893:Agl'
| ID |
83570 |
| 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 |
039056-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.360)
|
| Stock # |
R0893 (G1)
|
| Quality Score |
201 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
116533648-116601815 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 116546935 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 1305
(I1305T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124149
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040603]
[ENSMUST00000159742]
[ENSMUST00000161336]
[ENSMUST00000162792]
|
| AlphaFold |
F8VPN4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040603
AA Change: I1305T
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000044012
Gene: ENSMUSG00000033400
AA Change: I1305T
| 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: I640T
| 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: I1305T
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000124149
Gene: ENSMUSG00000033400
AA Change: I1305T
| 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 |
0.1384 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 95.1%
|
| Validation Efficiency |
99% (77/78) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
A |
12: 71,266,082 (GRCm39) |
|
probably benign |
Het |
| Adnp |
A |
T |
2: 168,025,647 (GRCm39) |
F549L |
possibly damaging |
Het |
| Aldh8a1 |
T |
A |
10: 21,267,593 (GRCm39) |
M326K |
probably benign |
Het |
| Amdhd1 |
A |
T |
10: 93,363,513 (GRCm39) |
M295K |
probably damaging |
Het |
| Arhgef4 |
T |
A |
1: 34,846,191 (GRCm39) |
C324S |
probably damaging |
Het |
| Car8 |
A |
T |
4: 8,238,119 (GRCm39) |
|
probably null |
Het |
| Cc2d1a |
T |
C |
8: 84,867,468 (GRCm39) |
|
probably benign |
Het |
| Cd81 |
G |
A |
7: 142,616,242 (GRCm39) |
V27M |
possibly damaging |
Het |
| Ces1b |
A |
T |
8: 93,806,056 (GRCm39) |
S62T |
probably benign |
Het |
| Cfb |
A |
G |
17: 35,077,031 (GRCm39) |
S30P |
probably damaging |
Het |
| Cmtm3 |
A |
G |
8: 105,070,543 (GRCm39) |
M101V |
possibly damaging |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| Ddb1 |
C |
T |
19: 10,590,280 (GRCm39) |
S269L |
probably benign |
Het |
| Ddx25 |
G |
A |
9: 35,465,686 (GRCm39) |
Q143* |
probably null |
Het |
| Dis3l2 |
T |
A |
1: 86,971,928 (GRCm39) |
|
probably null |
Het |
| Dlgap4 |
G |
T |
2: 156,587,898 (GRCm39) |
E598* |
probably null |
Het |
| Dus1l |
C |
T |
11: 120,680,262 (GRCm39) |
G471D |
possibly damaging |
Het |
| Elp4 |
C |
A |
2: 105,727,290 (GRCm39) |
|
probably benign |
Het |
| Eya3 |
A |
G |
4: 132,417,097 (GRCm39) |
N194S |
probably benign |
Het |
| Golgb1 |
G |
T |
16: 36,732,639 (GRCm39) |
V629L |
possibly damaging |
Het |
| Hars2 |
G |
A |
18: 36,920,648 (GRCm39) |
A164T |
possibly damaging |
Het |
| Hexb |
T |
A |
13: 97,322,135 (GRCm39) |
I217L |
probably benign |
Het |
| Hgh1 |
A |
G |
15: 76,253,848 (GRCm39) |
|
probably null |
Het |
| Hsd3b3 |
A |
T |
3: 98,649,757 (GRCm39) |
|
probably null |
Het |
| Ighg2c |
T |
A |
12: 113,251,053 (GRCm39) |
N321Y |
unknown |
Het |
| Il5 |
A |
G |
11: 53,611,763 (GRCm39) |
T34A |
probably benign |
Het |
| Jph1 |
C |
A |
1: 17,074,507 (GRCm39) |
E504* |
probably null |
Het |
| Kif2b |
G |
T |
11: 91,466,420 (GRCm39) |
T621K |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,556,268 (GRCm39) |
|
probably benign |
Het |
| Leprotl1 |
A |
G |
8: 34,606,006 (GRCm39) |
|
probably null |
Het |
| Lpar3 |
C |
T |
3: 145,946,348 (GRCm39) |
R9C |
possibly damaging |
Het |
| Map1a |
A |
G |
2: 121,131,014 (GRCm39) |
E372G |
probably damaging |
Het |
| Map2 |
C |
A |
1: 66,419,927 (GRCm39) |
T86K |
probably damaging |
Het |
| Map7 |
A |
G |
10: 20,149,629 (GRCm39) |
|
probably null |
Het |
| Mdn1 |
T |
C |
4: 32,701,713 (GRCm39) |
V1482A |
probably benign |
Het |
| Mks1 |
G |
A |
11: 87,747,777 (GRCm39) |
|
probably benign |
Het |
| Morf4l1 |
T |
G |
9: 89,984,403 (GRCm39) |
K102N |
probably damaging |
Het |
| Mroh1 |
T |
A |
15: 76,293,138 (GRCm39) |
V304D |
possibly damaging |
Het |
| Mtg1 |
G |
A |
7: 139,729,665 (GRCm39) |
V252M |
probably damaging |
Het |
| Myh13 |
A |
T |
11: 67,225,427 (GRCm39) |
D264V |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,077,334 (GRCm39) |
Y823C |
possibly damaging |
Het |
| Myoz1 |
A |
T |
14: 20,701,252 (GRCm39) |
S112R |
probably benign |
Het |
| Ncapd2 |
A |
G |
6: 125,150,445 (GRCm39) |
V860A |
probably benign |
Het |
| Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
| Npffr1 |
T |
C |
10: 61,450,010 (GRCm39) |
F95L |
possibly damaging |
Het |
| Or51f1e |
G |
T |
7: 102,747,641 (GRCm39) |
R231L |
probably benign |
Het |
| Or8b9 |
T |
C |
9: 37,766,492 (GRCm39) |
I126T |
probably damaging |
Het |
| Orc4 |
A |
C |
2: 48,822,622 (GRCm39) |
|
probably benign |
Het |
| P3h3 |
A |
C |
6: 124,822,476 (GRCm39) |
I565R |
probably damaging |
Het |
| Pak4 |
T |
C |
7: 28,259,202 (GRCm39) |
D552G |
probably benign |
Het |
| Pcdhb4 |
G |
T |
18: 37,442,423 (GRCm39) |
|
probably null |
Het |
| Pdcd4 |
G |
T |
19: 53,917,525 (GRCm39) |
R454L |
probably damaging |
Het |
| Phf8-ps |
T |
C |
17: 33,284,263 (GRCm39) |
I846M |
probably benign |
Het |
| Pkd1l2 |
A |
G |
8: 117,771,231 (GRCm39) |
I1116T |
probably damaging |
Het |
| Plcb2 |
A |
G |
2: 118,555,586 (GRCm39) |
|
probably benign |
Het |
| Pmpca |
T |
C |
2: 26,283,230 (GRCm39) |
|
probably benign |
Het |
| Pnpla7 |
T |
A |
2: 24,887,252 (GRCm39) |
I32N |
probably damaging |
Het |
| Prpf8 |
A |
G |
11: 75,384,775 (GRCm39) |
K718E |
probably damaging |
Het |
| Racgap1 |
C |
T |
15: 99,524,411 (GRCm39) |
A359T |
probably benign |
Het |
| Rgs3 |
G |
A |
4: 62,523,798 (GRCm39) |
|
probably null |
Het |
| Rhpn1 |
A |
G |
15: 75,583,503 (GRCm39) |
E356G |
probably damaging |
Het |
| Rps6ka5 |
T |
C |
12: 100,540,697 (GRCm39) |
H488R |
possibly damaging |
Het |
| Scn11a |
A |
G |
9: 119,632,396 (GRCm39) |
|
probably null |
Het |
| Sema4f |
A |
T |
6: 82,912,948 (GRCm39) |
|
probably benign |
Het |
| Serpina1f |
A |
G |
12: 103,660,094 (GRCm39) |
S63P |
probably damaging |
Het |
| Slc9a3 |
T |
C |
13: 74,307,365 (GRCm39) |
W386R |
probably damaging |
Het |
| Slc9b1 |
A |
C |
3: 135,100,651 (GRCm39) |
L465F |
probably benign |
Het |
| Smc5 |
A |
G |
19: 23,241,017 (GRCm39) |
V165A |
possibly damaging |
Het |
| Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
| Tinagl1 |
G |
T |
4: 130,067,816 (GRCm39) |
D59E |
probably damaging |
Het |
| Tns3 |
A |
G |
11: 8,443,302 (GRCm39) |
Y354H |
probably damaging |
Het |
| Trappc9 |
C |
T |
15: 72,461,956 (GRCm39) |
G1103D |
probably damaging |
Het |
| Unc79 |
A |
T |
12: 102,957,687 (GRCm39) |
D34V |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,560,645 (GRCm39) |
L791P |
probably damaging |
Het |
| Unc93a2 |
A |
G |
17: 7,641,926 (GRCm39) |
L174P |
probably damaging |
Het |
| Xpo7 |
G |
T |
14: 70,903,537 (GRCm39) |
|
probably benign |
Het |
| Zbtb1 |
T |
A |
12: 76,432,113 (GRCm39) |
I33N |
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 |
|
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 |
|
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'- AGATTTCCAGACTGCCCATGTGC -3'
(R):5'- GACGTTCAACTCTGAGCTACATCCC -3'
Sequencing Primer
(F):5'- TGCGTGACTTGCTCACAGAG -3'
(R):5'- CCAACCCAGAATTACTTATTGAATGC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation