Incidental Mutation 'R2184:Agl'
| ID |
237333 |
| 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 |
040186-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.360)
|
| Stock # |
R2184 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
116533648-116601815 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116574426 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 753
(N753D)
|
| 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: N753D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000044012
Gene: ENSMUSG00000033400
AA Change: N753D
| 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: N753D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000143582
Gene: ENSMUSG00000033400
AA Change: N753D
| 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 |
unknown
Transcript: ENSMUST00000159995
AA Change: N174D
|
| SMART Domains |
Protein: ENSMUSP00000125246
Gene: ENSMUSG00000033400
AA Change: N174D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:hGDE_central
|
119 |
197 |
8.8e-25 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000160484
AA Change: N88D
|
| SMART Domains |
Protein: ENSMUSP00000123985
Gene: ENSMUSG00000033400
AA Change: N88D
| 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: N753D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000124149
Gene: ENSMUSG00000033400
AA Change: N753D
| 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: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700088E04Rik |
T |
C |
15: 79,019,389 (GRCm39) |
R184G |
probably damaging |
Het |
| 2300002M23Rik |
C |
A |
17: 35,879,115 (GRCm39) |
A151E |
probably benign |
Het |
| A930011G23Rik |
C |
T |
5: 99,380,228 (GRCm39) |
R339Q |
possibly damaging |
Het |
| Abcd2 |
T |
C |
15: 91,075,642 (GRCm39) |
Y57C |
probably benign |
Het |
| Adprhl1 |
A |
G |
8: 13,292,559 (GRCm39) |
V244A |
probably benign |
Het |
| Amotl1 |
T |
A |
9: 14,486,686 (GRCm39) |
M440L |
probably benign |
Het |
| Angpt2 |
A |
G |
8: 18,742,132 (GRCm39) |
Y475H |
probably benign |
Het |
| Angpt4 |
A |
T |
2: 151,780,874 (GRCm39) |
H374L |
probably damaging |
Het |
| Ank1 |
A |
T |
8: 23,599,270 (GRCm39) |
T801S |
probably damaging |
Het |
| Ap5m1 |
G |
T |
14: 49,323,752 (GRCm39) |
A481S |
probably damaging |
Het |
| AY358078 |
G |
T |
14: 52,063,445 (GRCm39) |
G364W |
probably damaging |
Het |
| C4b |
C |
A |
17: 34,956,676 (GRCm39) |
A641S |
probably benign |
Het |
| Capn13 |
T |
C |
17: 73,672,943 (GRCm39) |
Y120C |
probably damaging |
Het |
| Cbx6 |
T |
C |
15: 79,712,762 (GRCm39) |
T222A |
probably benign |
Het |
| Cckar |
T |
C |
5: 53,860,254 (GRCm39) |
T192A |
probably damaging |
Het |
| Cdc42bpb |
T |
C |
12: 111,262,478 (GRCm39) |
D30G |
probably damaging |
Het |
| Cdk18 |
A |
G |
1: 132,043,690 (GRCm39) |
Y385H |
probably damaging |
Het |
| Cep170 |
A |
T |
1: 176,584,542 (GRCm39) |
D612E |
probably benign |
Het |
| Dennd4b |
G |
T |
3: 90,182,847 (GRCm39) |
R888L |
probably damaging |
Het |
| Egf |
A |
T |
3: 129,517,007 (GRCm39) |
C373* |
probably null |
Het |
| Gabrb2 |
T |
C |
11: 42,312,255 (GRCm39) |
|
probably null |
Het |
| Gle1 |
G |
T |
2: 29,839,030 (GRCm39) |
A482S |
probably damaging |
Het |
| Gm10644 |
T |
C |
8: 84,660,256 (GRCm39) |
T30A |
possibly damaging |
Het |
| Gmnn |
A |
G |
13: 24,937,706 (GRCm39) |
Y95H |
probably damaging |
Het |
| Hectd3 |
T |
A |
4: 116,858,100 (GRCm39) |
S643T |
possibly damaging |
Het |
| Hoga1 |
A |
G |
19: 42,049,830 (GRCm39) |
Y225C |
probably damaging |
Het |
| Hook3 |
T |
C |
8: 26,609,011 (GRCm39) |
E11G |
probably benign |
Het |
| Hsd17b1 |
C |
A |
11: 100,969,357 (GRCm39) |
S30R |
probably benign |
Het |
| Htr3b |
G |
A |
9: 48,858,544 (GRCm39) |
P112S |
probably damaging |
Het |
| Iqch |
T |
A |
9: 63,432,351 (GRCm39) |
D348V |
probably damaging |
Het |
| Irgm2 |
A |
T |
11: 58,111,254 (GRCm39) |
N327I |
probably benign |
Het |
| Itgb4 |
T |
C |
11: 115,870,450 (GRCm39) |
I93T |
probably damaging |
Het |
| Lamb2 |
T |
C |
9: 108,357,752 (GRCm39) |
F92L |
probably damaging |
Het |
| Lats2 |
T |
C |
14: 57,929,016 (GRCm39) |
H953R |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,620,714 (GRCm39) |
E3588G |
probably benign |
Het |
| Marchf1 |
A |
G |
8: 66,840,075 (GRCm39) |
E286G |
probably benign |
Het |
| Mc2r |
G |
T |
18: 68,541,196 (GRCm39) |
F32L |
probably benign |
Het |
| Mink1 |
C |
T |
11: 70,494,623 (GRCm39) |
T268M |
probably damaging |
Het |
| Mta1 |
G |
A |
12: 113,093,815 (GRCm39) |
|
probably null |
Het |
| Muc5b |
C |
A |
7: 141,412,601 (GRCm39) |
S1849* |
probably null |
Het |
| Myh15 |
A |
G |
16: 48,957,874 (GRCm39) |
E897G |
probably damaging |
Het |
| Nobox |
T |
C |
6: 43,281,819 (GRCm39) |
Q418R |
possibly damaging |
Het |
| Obsl1 |
G |
T |
1: 75,478,861 (GRCm39) |
Q626K |
probably benign |
Het |
| Or11h4 |
A |
G |
14: 50,974,059 (GRCm39) |
S187P |
probably damaging |
Het |
| Or13a24 |
T |
C |
7: 140,154,315 (GRCm39) |
V83A |
probably benign |
Het |
| Or1j12 |
A |
G |
2: 36,343,046 (GRCm39) |
T150A |
probably benign |
Het |
| Or2w25 |
T |
A |
11: 59,503,964 (GRCm39) |
M58K |
probably damaging |
Het |
| Or5w14 |
G |
A |
2: 87,541,549 (GRCm39) |
R234C |
probably damaging |
Het |
| Or8k24 |
G |
A |
2: 86,216,489 (GRCm39) |
T91I |
probably benign |
Het |
| Or9i1 |
A |
G |
19: 13,839,399 (GRCm39) |
I81V |
probably benign |
Het |
| Pald1 |
C |
T |
10: 61,182,915 (GRCm39) |
A345T |
possibly damaging |
Het |
| Pde8b |
G |
A |
13: 95,162,723 (GRCm39) |
P800S |
probably damaging |
Het |
| Pgm2l1 |
G |
A |
7: 99,917,362 (GRCm39) |
C493Y |
possibly damaging |
Het |
| Pias3 |
A |
G |
3: 96,609,537 (GRCm39) |
S311G |
possibly damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,362,692 (GRCm39) |
N573D |
possibly damaging |
Het |
| Plaat3 |
A |
G |
19: 7,556,583 (GRCm39) |
D128G |
probably damaging |
Het |
| Plxnc1 |
T |
G |
10: 94,780,131 (GRCm39) |
S104R |
probably damaging |
Het |
| Pofut2 |
T |
A |
10: 77,103,059 (GRCm39) |
F179I |
probably damaging |
Het |
| Prkcsh |
T |
A |
9: 21,916,028 (GRCm39) |
C112S |
probably damaging |
Het |
| Prss32 |
G |
A |
17: 24,078,297 (GRCm39) |
A328T |
probably benign |
Het |
| Ptgir |
G |
T |
7: 16,642,708 (GRCm39) |
R103L |
probably damaging |
Het |
| Ptpn5 |
G |
A |
7: 46,738,350 (GRCm39) |
S244F |
probably damaging |
Het |
| Rnpepl1 |
G |
A |
1: 92,844,545 (GRCm39) |
V346I |
probably benign |
Het |
| Sh3rf1 |
T |
A |
8: 61,825,688 (GRCm39) |
V561D |
probably damaging |
Het |
| Slc22a19 |
A |
T |
19: 7,687,026 (GRCm39) |
Y160N |
probably benign |
Het |
| Sorbs3 |
A |
G |
14: 70,428,880 (GRCm39) |
|
probably null |
Het |
| Sostdc1 |
T |
G |
12: 36,367,295 (GRCm39) |
I157S |
probably damaging |
Het |
| Svil |
G |
T |
18: 5,099,534 (GRCm39) |
R1777L |
probably damaging |
Het |
| Svil |
A |
T |
18: 5,099,615 (GRCm39) |
E1804V |
probably damaging |
Het |
| Tasor |
T |
A |
14: 27,188,141 (GRCm39) |
N862K |
possibly damaging |
Het |
| Thbs4 |
A |
G |
13: 92,911,302 (GRCm39) |
S294P |
probably benign |
Het |
| Tle2 |
A |
G |
10: 81,426,111 (GRCm39) |
Y750C |
probably damaging |
Het |
| Tmcc3 |
T |
C |
10: 94,418,168 (GRCm39) |
L312P |
probably damaging |
Het |
| Tnip2 |
TCTCCT |
TCT |
5: 34,656,957 (GRCm39) |
|
probably benign |
Het |
| Tnpo2 |
T |
A |
8: 85,780,475 (GRCm39) |
M734K |
probably benign |
Het |
| Trmt2a |
A |
T |
16: 18,070,859 (GRCm39) |
R531W |
probably benign |
Het |
| Ubn2 |
C |
T |
6: 38,461,029 (GRCm39) |
R483W |
probably damaging |
Het |
| Zc3hav1 |
T |
A |
6: 38,284,343 (GRCm39) |
Y924F |
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 |
|
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'- TCCATGCAGTGAAAGTGTCTG -3'
(R):5'- AGCCAAGGGTTTCATTCAAGTAAG -3'
Sequencing Primer
(F):5'- CAGTGAAAGTGTCTGCATTCTAAC -3'
(R):5'- GGGTTTCATTCAAGTAAGAAATGAAC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation