Incidental Mutation 'R6736:Agl'
ID |
528392 |
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 |
044854-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.360)
|
Stock # |
R6736 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
116533648-116601815 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 116575329 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 603
(S603P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124149
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040603]
[ENSMUST00000159742]
[ENSMUST00000161336]
[ENSMUST00000162792]
|
AlphaFold |
F8VPN4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040603
AA Change: S603P
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000044012 Gene: ENSMUSG00000033400 AA Change: S603P
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 damaging
Transcript: ENSMUST00000159742
AA Change: S603P
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000143582 Gene: ENSMUSG00000033400 AA Change: S603P
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: S24P
|
SMART Domains |
Protein: ENSMUSP00000125246 Gene: ENSMUSG00000033400 AA Change: S24P
Domain | Start | End | E-Value | Type |
Pfam:hGDE_central
|
119 |
197 |
8.8e-25 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160484
|
SMART Domains |
Protein: ENSMUSP00000123985 Gene: ENSMUSG00000033400
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: S603P
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000124149 Gene: ENSMUSG00000033400 AA Change: S603P
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: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
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: 102 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010I14Rik |
T |
C |
17: 9,211,100 (GRCm39) |
I83T |
probably benign |
Het |
Aadacl4 |
T |
G |
4: 144,349,909 (GRCm39) |
S389A |
possibly damaging |
Het |
Abca13 |
A |
T |
11: 9,415,058 (GRCm39) |
S4042C |
probably damaging |
Het |
Acaca |
G |
A |
11: 84,129,664 (GRCm39) |
V340I |
probably benign |
Het |
Acox3 |
T |
A |
5: 35,746,198 (GRCm39) |
|
probably null |
Het |
Acsl6 |
A |
C |
11: 54,215,992 (GRCm39) |
E124A |
probably damaging |
Het |
Adamtsl1 |
T |
A |
4: 86,260,484 (GRCm39) |
H898Q |
probably damaging |
Het |
Apobec1 |
A |
T |
6: 122,558,634 (GRCm39) |
M31K |
probably null |
Het |
Astn1 |
T |
C |
1: 158,338,718 (GRCm39) |
|
probably null |
Het |
Atp8a1 |
G |
T |
5: 67,824,960 (GRCm39) |
D790E |
probably damaging |
Het |
Bahd1 |
T |
G |
2: 118,746,456 (GRCm39) |
M25R |
possibly damaging |
Het |
BC034090 |
A |
T |
1: 155,117,676 (GRCm39) |
N147K |
possibly damaging |
Het |
Bfsp2 |
G |
T |
9: 103,357,403 (GRCm39) |
A8E |
possibly damaging |
Het |
Brwd1 |
A |
T |
16: 95,869,772 (GRCm39) |
I85N |
probably damaging |
Het |
Catspere2 |
T |
A |
1: 177,845,278 (GRCm39) |
Y99* |
probably null |
Het |
Ccdc24 |
T |
A |
4: 117,727,732 (GRCm39) |
N145I |
possibly damaging |
Het |
Cdhr5 |
G |
T |
7: 140,852,444 (GRCm39) |
Q141K |
probably damaging |
Het |
Cfap46 |
A |
G |
7: 139,199,887 (GRCm39) |
V1998A |
possibly damaging |
Het |
Csmd1 |
T |
A |
8: 16,052,626 (GRCm39) |
Y2166F |
probably damaging |
Het |
Cul4a |
T |
G |
8: 13,186,219 (GRCm39) |
S474A |
probably benign |
Het |
Cutal |
A |
G |
2: 34,778,149 (GRCm39) |
T112A |
probably benign |
Het |
Dcaf6 |
A |
C |
1: 165,227,354 (GRCm39) |
S258A |
possibly damaging |
Het |
Dek |
C |
T |
13: 47,252,866 (GRCm39) |
V180M |
probably damaging |
Het |
Dspp |
C |
A |
5: 104,326,041 (GRCm39) |
D801E |
unknown |
Het |
Egflam |
T |
C |
15: 7,249,206 (GRCm39) |
T871A |
probably damaging |
Het |
Erbin |
A |
T |
13: 103,971,274 (GRCm39) |
S781T |
possibly damaging |
Het |
Erich6 |
A |
T |
3: 58,532,475 (GRCm39) |
H377Q |
probably damaging |
Het |
Exo5 |
C |
A |
4: 120,778,953 (GRCm39) |
G304V |
probably damaging |
Het |
Eya2 |
C |
A |
2: 165,557,957 (GRCm39) |
S184R |
possibly damaging |
Het |
Fhod1 |
G |
A |
8: 106,064,522 (GRCm39) |
|
probably benign |
Het |
G6pc3 |
A |
G |
11: 102,084,496 (GRCm39) |
Y302C |
possibly damaging |
Het |
Gart |
T |
C |
16: 91,432,995 (GRCm39) |
D318G |
probably benign |
Het |
Gm10300 |
T |
C |
4: 131,802,246 (GRCm39) |
|
probably benign |
Het |
Gm11937 |
A |
G |
11: 99,500,900 (GRCm39) |
V39A |
probably damaging |
Het |
Gnas |
T |
C |
2: 174,176,044 (GRCm39) |
M60T |
probably damaging |
Het |
Grk5 |
G |
T |
19: 60,879,064 (GRCm39) |
R16L |
probably damaging |
Het |
Hcn3 |
A |
G |
3: 89,059,981 (GRCm39) |
L221P |
probably damaging |
Het |
Hddc3 |
G |
A |
7: 79,992,944 (GRCm39) |
R20Q |
possibly damaging |
Het |
Hectd4 |
T |
C |
5: 121,415,788 (GRCm39) |
Y530H |
possibly damaging |
Het |
Igf2bp1 |
A |
T |
11: 95,863,948 (GRCm39) |
H247Q |
probably benign |
Het |
Igkv4-70 |
T |
A |
6: 69,244,912 (GRCm39) |
D103V |
probably damaging |
Het |
Itpr2 |
T |
A |
6: 146,226,668 (GRCm39) |
M1359L |
probably damaging |
Het |
Kalrn |
A |
G |
16: 34,038,293 (GRCm39) |
L1013S |
probably damaging |
Het |
Kctd21 |
C |
T |
7: 96,997,291 (GRCm39) |
R255W |
probably damaging |
Het |
Krt18 |
T |
A |
15: 101,939,204 (GRCm39) |
Y263N |
probably benign |
Het |
Lamp5 |
C |
G |
2: 135,901,483 (GRCm39) |
N102K |
possibly damaging |
Het |
Larp1 |
G |
A |
11: 57,933,473 (GRCm39) |
|
probably null |
Het |
Lmnb1 |
A |
G |
18: 56,861,541 (GRCm39) |
N144S |
probably damaging |
Het |
Lrp2 |
T |
A |
2: 69,278,555 (GRCm39) |
T3933S |
probably benign |
Het |
Lrrc34 |
T |
C |
3: 30,679,008 (GRCm39) |
N363S |
probably benign |
Het |
Lrriq1 |
T |
C |
10: 103,017,750 (GRCm39) |
|
probably null |
Het |
Mafa |
C |
A |
15: 75,619,629 (GRCm39) |
G48V |
unknown |
Het |
Mboat4 |
T |
C |
8: 34,591,675 (GRCm39) |
S371P |
possibly damaging |
Het |
Mei4 |
A |
T |
9: 81,907,677 (GRCm39) |
M237L |
probably benign |
Het |
Mfsd2a |
T |
C |
4: 122,845,054 (GRCm39) |
D219G |
probably benign |
Het |
Msl2 |
A |
G |
9: 100,978,201 (GRCm39) |
N192D |
probably damaging |
Het |
Mycbp2 |
C |
A |
14: 103,429,003 (GRCm39) |
R2358M |
probably null |
Het |
Myh10 |
A |
G |
11: 68,636,165 (GRCm39) |
T185A |
probably damaging |
Het |
Nipsnap2 |
T |
C |
5: 129,822,352 (GRCm39) |
|
probably null |
Het |
Notch1 |
T |
C |
2: 26,350,298 (GRCm39) |
T2281A |
probably benign |
Het |
Odad2 |
C |
A |
18: 7,223,586 (GRCm39) |
V486F |
probably damaging |
Het |
Or12j4 |
T |
C |
7: 140,046,800 (GRCm39) |
S229P |
probably damaging |
Het |
Or12j4 |
G |
T |
7: 140,046,834 (GRCm39) |
C240F |
probably damaging |
Het |
Or1e1c |
G |
T |
11: 73,266,402 (GRCm39) |
V276F |
probably benign |
Het |
Or4q3 |
A |
T |
14: 50,582,905 (GRCm39) |
N300K |
probably damaging |
Het |
Or5an10 |
G |
A |
19: 12,275,936 (GRCm39) |
Q187* |
probably null |
Het |
Or5d20-ps1 |
C |
A |
2: 87,931,947 (GRCm39) |
C128F |
probably benign |
Het |
Or8c17 |
T |
A |
9: 38,179,866 (GRCm39) |
I19N |
probably damaging |
Het |
Or8g30 |
A |
G |
9: 39,230,089 (GRCm39) |
S274P |
probably damaging |
Het |
Oxct1 |
T |
A |
15: 4,121,899 (GRCm39) |
S283T |
probably benign |
Het |
Pcnx2 |
G |
T |
8: 126,479,056 (GRCm39) |
|
probably null |
Het |
Piwil4 |
A |
G |
9: 14,627,119 (GRCm39) |
F424L |
probably benign |
Het |
Pkhd1l1 |
T |
C |
15: 44,421,336 (GRCm39) |
S3035P |
probably damaging |
Het |
Psmc2 |
T |
A |
5: 22,005,574 (GRCm39) |
D218E |
probably damaging |
Het |
Ptpn7 |
C |
T |
1: 135,066,974 (GRCm39) |
P277L |
probably benign |
Het |
Rgs12 |
A |
G |
5: 35,180,436 (GRCm39) |
K27E |
probably damaging |
Het |
Rp1l1 |
G |
T |
14: 64,267,173 (GRCm39) |
A920S |
possibly damaging |
Het |
Rsbn1l |
A |
T |
5: 21,113,222 (GRCm39) |
H433Q |
probably benign |
Het |
Safb |
C |
A |
17: 56,913,023 (GRCm39) |
P913Q |
possibly damaging |
Het |
Sema7a |
G |
A |
9: 57,867,854 (GRCm39) |
V477M |
probably damaging |
Het |
Serpina16 |
T |
A |
12: 103,635,191 (GRCm39) |
T408S |
possibly damaging |
Het |
Six5 |
G |
A |
7: 18,828,916 (GRCm39) |
V119M |
possibly damaging |
Het |
Slc6a16 |
C |
T |
7: 44,908,452 (GRCm39) |
P11S |
possibly damaging |
Het |
Smg1 |
A |
G |
7: 117,756,389 (GRCm39) |
|
probably benign |
Het |
Sntg1 |
T |
A |
1: 8,515,274 (GRCm39) |
I420F |
probably benign |
Het |
Sptb |
T |
C |
12: 76,659,954 (GRCm39) |
D982G |
possibly damaging |
Het |
Stag3 |
T |
A |
5: 138,299,761 (GRCm39) |
F891I |
probably damaging |
Het |
Sugp1 |
A |
G |
8: 70,511,953 (GRCm39) |
E183G |
probably benign |
Het |
Taf1d |
T |
C |
9: 15,219,119 (GRCm39) |
|
probably null |
Het |
Tapbp |
T |
C |
17: 34,138,931 (GRCm39) |
S33P |
possibly damaging |
Het |
Ubap2 |
CT |
CTTGCCCCGGT |
4: 41,227,224 (GRCm39) |
|
probably benign |
Het |
Ubap2 |
GCCCGCTTGCCCCGCT |
GCCCGCTTGCCCCGCTTGCCCCGCT |
4: 41,227,210 (GRCm39) |
|
probably benign |
Het |
Ubash3a |
A |
G |
17: 31,450,389 (GRCm39) |
T355A |
probably benign |
Het |
Usp16 |
T |
G |
16: 87,267,285 (GRCm39) |
V225G |
probably damaging |
Het |
Utrn |
A |
G |
10: 12,497,047 (GRCm39) |
V2454A |
probably benign |
Het |
Vmn1r191 |
G |
T |
13: 22,363,720 (GRCm39) |
F11L |
probably benign |
Het |
Vmn2r117 |
A |
T |
17: 23,697,282 (GRCm39) |
C137S |
probably damaging |
Het |
Zfp1002 |
T |
A |
2: 150,097,198 (GRCm39) |
Y77F |
possibly damaging |
Het |
Zfp143 |
T |
C |
7: 109,691,021 (GRCm39) |
M524T |
probably damaging |
Het |
Zfp599 |
A |
G |
9: 22,161,140 (GRCm39) |
C342R |
probably damaging |
Het |
Zfp777 |
T |
G |
6: 48,001,790 (GRCm39) |
K811Q |
probably damaging |
Het |
Zfp870 |
T |
A |
17: 33,102,570 (GRCm39) |
H254L |
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 |
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'- AAAGCACATGGATGCCATCC -3'
(R):5'- TCCAGTGAACAGCTATTGATCC -3'
Sequencing Primer
(F):5'- TGCCATCCAGCATCAGAC -3'
(R):5'- TCACTTGGATTTGGTGACATTG -3'
|
Posted On |
2018-07-24 |