Incidental Mutation 'R5347:Agl'
| ID |
422661 |
| 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 |
042926-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.360)
|
| Stock # |
R5347 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
116533648-116601815 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 116584814 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 169
(S169P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124149
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040603]
[ENSMUST00000159670]
[ENSMUST00000159742]
[ENSMUST00000161336]
[ENSMUST00000162792]
|
| AlphaFold |
F8VPN4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040603
AA Change: S169P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044012
Gene: ENSMUSG00000033400
AA Change: S169P
| 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: ENSMUST00000159670
|
| SMART Domains |
Protein: ENSMUSP00000124840
Gene: ENSMUSG00000033400
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:hGDE_N
|
30 |
117 |
7.9e-30 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159742
AA Change: S169P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143582
Gene: ENSMUSG00000033400
AA Change: S169P
| 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 damaging
Transcript: ENSMUST00000161336
AA Change: S169P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123877
Gene: ENSMUSG00000033400
AA Change: S169P
| 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 |
noncoding transcript
Transcript: ENSMUST00000162040
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162792
AA Change: S169P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124149
Gene: ENSMUSG00000033400
AA Change: S169P
| 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: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr2a |
A |
G |
2: 48,782,166 (GRCm39) |
Y233C |
probably damaging |
Het |
| Arid1b |
C |
T |
17: 5,341,332 (GRCm39) |
Q879* |
probably null |
Het |
| Bbs2 |
A |
G |
8: 94,819,178 (GRCm39) |
S64P |
probably damaging |
Het |
| Bend7 |
G |
A |
2: 4,768,052 (GRCm39) |
R336Q |
probably damaging |
Het |
| Cacna2d2 |
A |
G |
9: 107,391,313 (GRCm39) |
T447A |
probably benign |
Het |
| Ccdc168 |
T |
A |
1: 44,096,955 (GRCm39) |
Y1381F |
probably benign |
Het |
| Ccdc169 |
A |
T |
3: 55,049,740 (GRCm39) |
|
probably benign |
Het |
| Cdan1 |
A |
G |
2: 120,560,546 (GRCm39) |
S275P |
possibly damaging |
Het |
| Cdh15 |
A |
G |
8: 123,588,802 (GRCm39) |
N292S |
probably null |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Cnnm1 |
A |
G |
19: 43,430,301 (GRCm39) |
H473R |
probably benign |
Het |
| Cplx4 |
G |
A |
18: 66,103,157 (GRCm39) |
|
probably benign |
Het |
| Crb1 |
C |
T |
1: 139,265,109 (GRCm39) |
G103E |
probably damaging |
Het |
| Dnaja3 |
T |
A |
16: 4,512,346 (GRCm39) |
V250E |
possibly damaging |
Het |
| Dync2h1 |
T |
G |
9: 7,129,727 (GRCm39) |
Q1757P |
probably damaging |
Het |
| Edem3 |
A |
G |
1: 151,683,202 (GRCm39) |
Q626R |
probably damaging |
Het |
| Eif2b1 |
T |
C |
5: 124,716,862 (GRCm39) |
|
probably benign |
Het |
| Esf1 |
T |
A |
2: 139,996,801 (GRCm39) |
K521* |
probably null |
Het |
| Fbxl3 |
A |
C |
14: 103,320,730 (GRCm39) |
V239G |
probably damaging |
Het |
| Fhip2a |
A |
G |
19: 57,367,051 (GRCm39) |
D198G |
probably benign |
Het |
| Fto |
A |
G |
8: 92,118,107 (GRCm39) |
|
probably benign |
Het |
| Gm5773 |
T |
C |
3: 93,681,090 (GRCm39) |
L254P |
probably damaging |
Het |
| Gm5916 |
A |
T |
9: 36,032,012 (GRCm39) |
W91R |
probably benign |
Het |
| Gpam |
A |
T |
19: 55,077,269 (GRCm39) |
L174H |
probably damaging |
Het |
| Grk1 |
G |
A |
8: 13,464,478 (GRCm39) |
R450Q |
probably damaging |
Het |
| Hc |
G |
A |
2: 34,927,636 (GRCm39) |
A326V |
probably benign |
Het |
| Hectd4 |
T |
C |
5: 121,442,511 (GRCm39) |
I1317T |
probably benign |
Het |
| Hlcs |
A |
G |
16: 94,068,383 (GRCm39) |
V426A |
possibly damaging |
Het |
| Ighv1-23 |
T |
C |
12: 114,728,376 (GRCm39) |
|
probably benign |
Het |
| Itgax |
G |
A |
7: 127,740,474 (GRCm39) |
V754I |
probably benign |
Het |
| Krt24 |
T |
A |
11: 99,173,556 (GRCm39) |
D255V |
probably damaging |
Het |
| Lnpk |
T |
C |
2: 74,403,935 (GRCm39) |
|
probably benign |
Het |
| Loxhd1 |
G |
T |
18: 77,454,237 (GRCm39) |
R478L |
probably damaging |
Het |
| Lrrc56 |
A |
G |
7: 140,789,537 (GRCm39) |
Q518R |
probably benign |
Het |
| Mbl1 |
A |
T |
14: 40,880,786 (GRCm39) |
I225F |
probably damaging |
Het |
| Mmp21 |
T |
C |
7: 133,277,651 (GRCm39) |
S392G |
probably benign |
Het |
| Mug2 |
T |
G |
6: 122,058,551 (GRCm39) |
F1318V |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,202,487 (GRCm39) |
N1447S |
probably null |
Het |
| Nbea |
A |
C |
3: 55,948,297 (GRCm39) |
V543G |
probably damaging |
Het |
| Necap1 |
A |
G |
6: 122,857,706 (GRCm39) |
I96V |
probably benign |
Het |
| Nr3c2 |
T |
A |
8: 77,937,377 (GRCm39) |
M872K |
possibly damaging |
Het |
| Nrf1 |
C |
T |
6: 30,118,967 (GRCm39) |
T362M |
probably benign |
Het |
| Or14j2 |
T |
C |
17: 37,885,618 (GRCm39) |
E232G |
probably damaging |
Het |
| Pcare |
A |
G |
17: 72,056,930 (GRCm39) |
S916P |
probably benign |
Het |
| Plekhm3 |
T |
C |
1: 64,859,149 (GRCm39) |
E685G |
probably damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Sbk3 |
A |
T |
7: 4,970,422 (GRCm39) |
S316T |
probably benign |
Het |
| Serpinb9e |
T |
C |
13: 33,441,767 (GRCm39) |
L233P |
probably damaging |
Het |
| Set |
T |
A |
2: 29,959,422 (GRCm39) |
S132T |
possibly damaging |
Het |
| Slc17a4 |
C |
T |
13: 24,092,800 (GRCm39) |
E11K |
possibly damaging |
Het |
| Slc22a6 |
T |
A |
19: 8,595,917 (GRCm39) |
N86K |
possibly damaging |
Het |
| Slco1a6 |
A |
G |
6: 142,032,325 (GRCm39) |
L600P |
probably damaging |
Het |
| Sp8 |
A |
G |
12: 118,812,246 (GRCm39) |
K34E |
possibly damaging |
Het |
| Spen |
T |
A |
4: 141,198,796 (GRCm39) |
E3254V |
probably benign |
Het |
| Tcf12 |
G |
A |
9: 71,792,525 (GRCm39) |
P53S |
probably damaging |
Het |
| Tcf3 |
A |
G |
10: 80,246,045 (GRCm39) |
V626A |
probably damaging |
Het |
| Trpc4ap |
A |
G |
2: 155,514,908 (GRCm39) |
|
probably null |
Het |
| Ttc3 |
T |
A |
16: 94,230,479 (GRCm39) |
V892D |
probably damaging |
Het |
| Tub |
G |
T |
7: 108,625,978 (GRCm39) |
R243L |
possibly damaging |
Het |
| Tubgcp5 |
A |
G |
7: 55,473,433 (GRCm39) |
Y837C |
probably damaging |
Het |
| Utp25 |
A |
T |
1: 192,810,687 (GRCm39) |
D105E |
probably benign |
Het |
| Wdhd1 |
A |
T |
14: 47,506,181 (GRCm39) |
Y244* |
probably null |
Het |
| Xdh |
T |
A |
17: 74,232,027 (GRCm39) |
T228S |
probably benign |
Het |
| Zfp418 |
A |
C |
7: 7,185,534 (GRCm39) |
Q499P |
probably benign |
Het |
| Zfpm1 |
G |
A |
8: 123,062,269 (GRCm39) |
E443K |
possibly damaging |
Het |
| Zfy1 |
T |
C |
Y: 725,950 (GRCm39) |
H605R |
possibly 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 |
|
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'- CACGCTGAAATCACTGAAGCTC -3'
(R):5'- TCTGTAGATTTCCCAGCAGTC -3'
Sequencing Primer
(F):5'- TCACTGAAGCTCATACCAGTATG -3'
(R):5'- AAATCCCCTGTTGTGGGTTC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation