Incidental Mutation 'R7715:Agl'
ID |
594833 |
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 |
045773-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.360)
|
Stock # |
R7715 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
116533648-116601815 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 116551905 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 563
(R563Q)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040603]
[ENSMUST00000159742]
[ENSMUST00000161336]
[ENSMUST00000162792]
|
AlphaFold |
F8VPN4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040603
AA Change: R1228Q
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000044012 Gene: ENSMUSG00000033400 AA Change: R1228Q
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: R1228Q
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000143582 Gene: ENSMUSG00000033400 AA Change: R1228Q
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: R563Q
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: R1228Q
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000124149 Gene: ENSMUSG00000033400 AA Change: R1228Q
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 |
0.0943 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
99% (67/68) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700019A02Rik |
A |
G |
1: 53,221,659 (GRCm39) |
F57L |
probably benign |
Het |
Ahctf1 |
A |
G |
1: 179,598,413 (GRCm39) |
M919T |
probably benign |
Het |
Ano4 |
A |
T |
10: 88,831,173 (GRCm39) |
N483K |
probably damaging |
Het |
Armt1 |
A |
G |
10: 4,400,751 (GRCm39) |
K166R |
probably benign |
Het |
Asgr2 |
T |
C |
11: 69,987,721 (GRCm39) |
V73A |
probably benign |
Het |
Atp6v0a2 |
A |
C |
5: 124,791,262 (GRCm39) |
T564P |
probably damaging |
Het |
B3gntl1 |
T |
C |
11: 121,530,622 (GRCm39) |
T150A |
possibly damaging |
Het |
Bach1 |
A |
G |
16: 87,516,859 (GRCm39) |
I467V |
possibly damaging |
Het |
Bicd1 |
A |
G |
6: 149,414,471 (GRCm39) |
K395E |
probably benign |
Het |
Cadps |
G |
A |
14: 12,457,762 (GRCm38) |
P1040S |
probably benign |
Het |
Calcoco2 |
TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 95,990,862 (GRCm39) |
|
probably null |
Het |
Canx |
A |
G |
11: 50,201,631 (GRCm39) |
S80P |
probably benign |
Het |
Ccdc149 |
T |
A |
5: 52,561,533 (GRCm39) |
|
probably null |
Het |
Cd34 |
A |
T |
1: 194,631,624 (GRCm39) |
N87Y |
probably damaging |
Het |
Cdh11 |
T |
A |
8: 103,391,346 (GRCm39) |
I297F |
possibly damaging |
Het |
Cfap251 |
A |
G |
5: 123,400,197 (GRCm39) |
N439D |
probably damaging |
Het |
Cip2a |
A |
T |
16: 48,834,347 (GRCm39) |
Q643L |
probably damaging |
Het |
Col14a1 |
A |
G |
15: 55,351,379 (GRCm39) |
I1569V |
unknown |
Het |
Cxcr4 |
C |
T |
1: 128,517,479 (GRCm39) |
V61M |
probably damaging |
Het |
Cyp20a1 |
G |
A |
1: 60,411,764 (GRCm39) |
V271M |
probably benign |
Het |
Cyp2b23 |
T |
C |
7: 26,381,120 (GRCm39) |
Y79C |
probably benign |
Het |
Daam1 |
A |
G |
12: 72,035,675 (GRCm39) |
K957E |
probably benign |
Het |
Dip2c |
A |
G |
13: 9,664,427 (GRCm39) |
K947E |
probably damaging |
Het |
Efcab12 |
T |
C |
6: 115,800,504 (GRCm39) |
K173R |
possibly damaging |
Het |
Emc1 |
C |
T |
4: 139,098,934 (GRCm39) |
R806C |
probably damaging |
Het |
Epg5 |
G |
A |
18: 78,011,801 (GRCm39) |
R816Q |
probably damaging |
Het |
Faf1 |
G |
T |
4: 109,568,011 (GRCm39) |
D24Y |
probably damaging |
Het |
Fchsd1 |
A |
T |
18: 38,099,695 (GRCm39) |
|
probably null |
Het |
Foxp1 |
T |
C |
6: 98,922,621 (GRCm39) |
T404A |
unknown |
Het |
Fra10ac1 |
T |
C |
19: 38,178,286 (GRCm39) |
E299G |
probably damaging |
Het |
Gon4l |
A |
G |
3: 88,815,313 (GRCm39) |
T1959A |
probably benign |
Het |
Gpam |
A |
C |
19: 55,077,353 (GRCm39) |
V146G |
probably benign |
Het |
Hephl1 |
T |
A |
9: 14,972,081 (GRCm39) |
D953V |
probably benign |
Het |
Kcnc2 |
G |
T |
10: 112,107,845 (GRCm39) |
E79* |
probably null |
Het |
Kcnj12 |
T |
A |
11: 60,957,778 (GRCm39) |
|
probably null |
Het |
Llgl2 |
A |
T |
11: 115,740,554 (GRCm39) |
T417S |
probably benign |
Het |
Lrrc17 |
A |
T |
5: 21,766,078 (GRCm39) |
N187Y |
probably damaging |
Het |
Macc1 |
C |
T |
12: 119,409,991 (GRCm39) |
A253V |
possibly damaging |
Het |
Mark1 |
A |
G |
1: 184,639,431 (GRCm39) |
S529P |
probably damaging |
Het |
Mfsd6l |
T |
C |
11: 68,448,376 (GRCm39) |
L409P |
probably damaging |
Het |
Nek1 |
A |
G |
8: 61,459,794 (GRCm39) |
E34G |
probably damaging |
Het |
Nlrp3 |
T |
A |
11: 59,433,829 (GRCm39) |
|
probably null |
Het |
Obsl1 |
A |
T |
1: 75,478,680 (GRCm39) |
V686D |
probably damaging |
Het |
Or2l5 |
C |
T |
16: 19,333,480 (GRCm39) |
R302K |
probably benign |
Het |
Or55b10 |
T |
A |
7: 102,143,668 (GRCm39) |
M105L |
possibly damaging |
Het |
Or7h8 |
G |
A |
9: 20,123,731 (GRCm39) |
G29R |
probably damaging |
Het |
Or7h8 |
G |
A |
9: 20,123,732 (GRCm39) |
G29E |
probably benign |
Het |
Or8c15 |
T |
A |
9: 38,120,775 (GRCm39) |
M140K |
probably benign |
Het |
Or8g18 |
A |
T |
9: 39,149,174 (GRCm39) |
L182H |
probably damaging |
Het |
Ostm1 |
G |
A |
10: 42,559,183 (GRCm39) |
G148R |
probably benign |
Het |
Oxsr1 |
A |
G |
9: 119,071,822 (GRCm39) |
S470P |
probably damaging |
Het |
Pacs1 |
C |
T |
19: 5,191,709 (GRCm39) |
M709I |
probably benign |
Het |
Pan2 |
A |
G |
10: 128,153,592 (GRCm39) |
M963V |
probably benign |
Het |
Pds5a |
A |
G |
5: 65,795,904 (GRCm39) |
L662P |
possibly damaging |
Het |
Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,119 (GRCm39) |
|
probably benign |
Het |
Sh2b2 |
T |
C |
5: 136,247,889 (GRCm39) |
N554S |
probably benign |
Het |
Sh3gl2 |
T |
A |
4: 85,317,077 (GRCm39) |
|
probably null |
Het |
Slc24a4 |
A |
G |
12: 102,185,219 (GRCm39) |
M93V |
possibly damaging |
Het |
Sohlh1 |
A |
G |
2: 25,734,640 (GRCm39) |
S218P |
possibly damaging |
Het |
Spast |
T |
A |
17: 74,675,921 (GRCm39) |
N321K |
probably benign |
Het |
Srcap |
T |
G |
7: 127,148,460 (GRCm39) |
I1936S |
probably damaging |
Het |
Themis |
G |
A |
10: 28,739,305 (GRCm39) |
V592I |
probably benign |
Het |
Tnfrsf1a |
C |
T |
6: 125,338,377 (GRCm39) |
T296I |
possibly damaging |
Het |
Ttk |
A |
G |
9: 83,747,206 (GRCm39) |
T682A |
probably benign |
Het |
Virma |
C |
T |
4: 11,549,682 (GRCm39) |
R1807W |
probably damaging |
Het |
Virma |
A |
G |
4: 11,513,016 (GRCm39) |
|
probably null |
Het |
Vmn2r101 |
T |
A |
17: 19,832,177 (GRCm39) |
D724E |
probably damaging |
Het |
Vmn2r11 |
A |
G |
5: 109,195,307 (GRCm39) |
V673A |
probably damaging |
Het |
Wbp4 |
C |
T |
14: 79,703,734 (GRCm39) |
S271N |
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 |
R7657:Agl
|
UTSW |
3 |
116,572,812 (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'- CTTGAGAATTGGCTGACAAAAGATCG -3'
(R):5'- TCTTCCTCCCAGGGAAAGTAC -3'
Sequencing Primer
(F):5'- TTGGCTGACAAAAGATCGCAAAC -3'
(R):5'- GGGAAAGTACATGTCCTCACCTTC -3'
|
Posted On |
2019-11-12 |