Incidental Mutation 'R7204:Agl'
| ID |
560428 |
| 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 |
045282-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.360)
|
| Stock # |
R7204 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
116533648-116601815 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 116587469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 29
(F29L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143582
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040603]
[ENSMUST00000159670]
[ENSMUST00000159742]
[ENSMUST00000161336]
[ENSMUST00000162792]
|
| AlphaFold |
F8VPN4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040603
AA Change: F29L
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000044012
Gene: ENSMUSG00000033400
AA Change: F29L
| 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
AA Change: F29L
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000124840
Gene: ENSMUSG00000033400
AA Change: F29L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:hGDE_N
|
30 |
117 |
7.9e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159742
AA Change: F29L
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000143582
Gene: ENSMUSG00000033400
AA Change: F29L
| 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 |
possibly damaging
Transcript: ENSMUST00000161336
AA Change: F29L
PolyPhen 2
Score 0.467 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000123877
Gene: ENSMUSG00000033400
AA Change: F29L
| 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: F29L
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000124149
Gene: ENSMUSG00000033400
AA Change: F29L
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
99% (75/76) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067K01Rik |
T |
C |
8: 84,730,636 (GRCm39) |
S227P |
probably damaging |
Het |
| Acot6 |
A |
G |
12: 84,153,301 (GRCm39) |
H181R |
probably benign |
Het |
| Adam15 |
A |
T |
3: 89,254,244 (GRCm39) |
H184Q |
probably benign |
Het |
| Ak7 |
A |
G |
12: 105,708,502 (GRCm39) |
Y319C |
probably benign |
Het |
| Ano8 |
C |
A |
8: 71,931,669 (GRCm39) |
V813L |
probably benign |
Het |
| Apbb2 |
T |
G |
5: 66,608,946 (GRCm39) |
K234Q |
probably damaging |
Het |
| Arfgef3 |
A |
T |
10: 18,522,210 (GRCm39) |
D605E |
probably damaging |
Het |
| Bfsp2 |
C |
A |
9: 103,309,865 (GRCm39) |
R340L |
probably damaging |
Het |
| Birc6 |
C |
A |
17: 74,947,103 (GRCm39) |
P2956T |
probably damaging |
Het |
| C1rb |
T |
C |
6: 124,554,386 (GRCm39) |
I389T |
probably benign |
Het |
| Ccdc146 |
A |
G |
5: 21,513,624 (GRCm39) |
F498S |
probably benign |
Het |
| Cdc14b |
A |
C |
13: 64,358,012 (GRCm39) |
V361G |
possibly damaging |
Het |
| Cdc25b |
A |
T |
2: 131,033,552 (GRCm39) |
I164F |
probably damaging |
Het |
| Col18a1 |
A |
G |
10: 76,921,110 (GRCm39) |
S297P |
unknown |
Het |
| Col3a1 |
A |
T |
1: 45,361,578 (GRCm39) |
I117F |
unknown |
Het |
| Cox4i2 |
AG |
A |
2: 152,602,618 (GRCm39) |
|
probably null |
Het |
| Crybg3 |
C |
A |
16: 59,379,253 (GRCm39) |
G667V |
probably benign |
Het |
| Ctc1 |
A |
G |
11: 68,920,567 (GRCm39) |
D623G |
probably damaging |
Het |
| Dennd1a |
A |
T |
2: 37,929,215 (GRCm39) |
H152Q |
probably damaging |
Het |
| Dgke |
G |
A |
11: 88,932,306 (GRCm39) |
P495S |
probably damaging |
Het |
| Dll3 |
A |
T |
7: 27,998,330 (GRCm39) |
C212S |
possibly damaging |
Het |
| Dll4 |
A |
T |
2: 119,159,054 (GRCm39) |
S235C |
probably damaging |
Het |
| Dnah12 |
G |
A |
14: 26,500,869 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
A |
T |
14: 26,503,442 (GRCm39) |
T1599S |
probably damaging |
Het |
| Elavl1 |
G |
A |
8: 4,361,712 (GRCm39) |
T20M |
probably damaging |
Het |
| Epha3 |
T |
C |
16: 63,472,695 (GRCm39) |
T397A |
probably benign |
Het |
| Fanca |
A |
T |
8: 124,013,216 (GRCm39) |
I859N |
probably damaging |
Het |
| Fzd1 |
A |
T |
5: 4,805,980 (GRCm39) |
V534D |
probably damaging |
Het |
| Glmp |
A |
G |
3: 88,233,917 (GRCm39) |
Y258C |
probably damaging |
Het |
| Gm9195 |
G |
A |
14: 72,711,626 (GRCm39) |
P329S |
probably damaging |
Het |
| Gpt |
A |
G |
15: 76,583,199 (GRCm39) |
R379G |
probably benign |
Het |
| Gsdmc2 |
T |
C |
15: 63,696,903 (GRCm39) |
T423A |
probably damaging |
Het |
| Hemgn |
T |
C |
4: 46,397,054 (GRCm39) |
K61E |
possibly damaging |
Het |
| Ikzf4 |
A |
T |
10: 128,479,759 (GRCm39) |
S56T |
possibly damaging |
Het |
| Jak1 |
T |
C |
4: 101,032,332 (GRCm39) |
T425A |
probably benign |
Het |
| Jsrp1 |
T |
C |
10: 80,646,319 (GRCm39) |
T80A |
probably benign |
Het |
| Klra9 |
T |
A |
6: 130,165,643 (GRCm39) |
D124V |
possibly damaging |
Het |
| Lama5 |
A |
T |
2: 179,843,970 (GRCm39) |
V397D |
probably damaging |
Het |
| Lrp2 |
A |
G |
2: 69,302,877 (GRCm39) |
S2951P |
probably benign |
Het |
| Map7d1 |
A |
G |
4: 126,149,808 (GRCm39) |
|
probably null |
Het |
| Mcm6 |
A |
T |
1: 128,265,864 (GRCm39) |
C636S |
probably damaging |
Het |
| Mia |
T |
C |
7: 26,880,358 (GRCm39) |
E39G |
possibly damaging |
Het |
| Mpeg1 |
T |
A |
19: 12,440,258 (GRCm39) |
I572N |
probably damaging |
Het |
| Muc21 |
AGCTGGATGCAGTGGTGGTCAGGGTGGGTGTAGAGCCTGAGCCAGTGCTGGATACAGTGGTGGTC |
AGCTGGATACAGTGGTGGTC |
17: 35,932,105 (GRCm39) |
|
probably benign |
Het |
| Muc6 |
AGGCGCAGAAACCCTGGC |
AGGC |
7: 141,214,363 (GRCm39) |
|
probably null |
Het |
| Mup5 |
A |
G |
4: 61,751,992 (GRCm39) |
Y86H |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 125,954,104 (GRCm39) |
V816D |
probably benign |
Het |
| Nfib |
T |
C |
4: 82,215,052 (GRCm39) |
|
probably null |
Het |
| Nlrc5 |
T |
A |
8: 95,218,153 (GRCm39) |
V1056D |
possibly damaging |
Het |
| Nynrin |
G |
C |
14: 56,110,190 (GRCm39) |
E1766Q |
probably damaging |
Het |
| Or7d9 |
A |
T |
9: 20,197,100 (GRCm39) |
Y43F |
probably benign |
Het |
| Oxct1 |
T |
A |
15: 4,123,524 (GRCm39) |
L328Q |
probably damaging |
Het |
| Pax5 |
T |
A |
4: 44,679,485 (GRCm39) |
I187F |
possibly damaging |
Het |
| Pcdhb4 |
A |
T |
18: 37,442,292 (GRCm39) |
D534V |
probably damaging |
Het |
| Pebp4 |
C |
T |
14: 70,085,046 (GRCm39) |
P35S |
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,386,949 (GRCm39) |
V1274E |
possibly damaging |
Het |
| Plcz1 |
A |
T |
6: 139,956,150 (GRCm39) |
V373D |
probably benign |
Het |
| Plxnb1 |
C |
T |
9: 108,929,243 (GRCm39) |
T33I |
probably damaging |
Het |
| Prag1 |
T |
C |
8: 36,613,915 (GRCm39) |
C1156R |
probably benign |
Het |
| Ptprc |
T |
A |
1: 138,045,600 (GRCm39) |
I87F |
probably benign |
Het |
| Rbp4 |
G |
A |
19: 38,112,551 (GRCm39) |
T138I |
possibly damaging |
Het |
| Semp2l2b |
A |
G |
10: 21,943,785 (GRCm39) |
L65P |
probably damaging |
Het |
| Slc12a1 |
A |
T |
2: 125,042,542 (GRCm39) |
N733Y |
possibly damaging |
Het |
| Slc27a3 |
A |
G |
3: 90,297,033 (GRCm39) |
V22A |
probably benign |
Het |
| Tcaf1 |
T |
C |
6: 42,651,973 (GRCm39) |
|
probably null |
Het |
| Tnc |
T |
C |
4: 63,889,392 (GRCm39) |
|
probably null |
Het |
| Tspan31 |
A |
T |
10: 126,903,987 (GRCm39) |
*211R |
probably null |
Het |
| Ttc17 |
A |
T |
2: 94,192,773 (GRCm39) |
V86D |
possibly damaging |
Het |
| Ubr1 |
T |
A |
2: 120,734,558 (GRCm39) |
N1114I |
possibly damaging |
Het |
| Ulk2 |
C |
T |
11: 61,674,457 (GRCm39) |
G850R |
probably benign |
Het |
| Vmn1r13 |
T |
A |
6: 57,187,141 (GRCm39) |
I100N |
probably benign |
Het |
| Zan |
T |
C |
5: 137,426,240 (GRCm39) |
D2512G |
unknown |
Het |
| Zc3h14 |
A |
T |
12: 98,737,615 (GRCm39) |
N34I |
probably damaging |
Het |
| Zcwpw1 |
T |
G |
5: 137,810,346 (GRCm39) |
L374R |
probably damaging |
Het |
| Zfp747l1 |
A |
T |
7: 126,983,518 (GRCm39) |
I528K |
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 |
|
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 |
|
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'- ACTATGTTAACTGCAGCCTACCC -3'
(R):5'- AAATCGAAGTGCCAAGTAGTTCC -3'
Sequencing Primer
(F):5'- CCTACCCTTGAAGGAAGTAGTACTG -3'
(R):5'- TCGAAGTGCCAAGTAGTTCCAAAAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation