Incidental Mutation 'R4968:Agl'
| ID |
482183 |
| 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 |
042564-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.360)
|
| Stock # |
R4968 (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 T
at 116582175 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 282
(N282K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124149
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040603]
[ENSMUST00000159670]
[ENSMUST00000159742]
[ENSMUST00000161336]
[ENSMUST00000162792]
|
| AlphaFold |
F8VPN4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040603
AA Change: N282K
PolyPhen 2
Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000044012
Gene: ENSMUSG00000033400
AA Change: N282K
| 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 benign
Transcript: ENSMUST00000159742
AA Change: N282K
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000143582
Gene: ENSMUSG00000033400
AA Change: N282K
| 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 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 |
noncoding transcript
Transcript: ENSMUST00000162040
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162792
AA Change: N282K
PolyPhen 2
Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000124149
Gene: ENSMUSG00000033400
AA Change: N282K
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.6%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
A |
T |
11: 58,769,616 (GRCm39) |
K53* |
probably null |
Het |
| 4921513D11Rik |
T |
C |
17: 79,935,651 (GRCm39) |
S255P |
probably benign |
Het |
| Ace |
A |
G |
11: 105,872,679 (GRCm39) |
N367S |
possibly damaging |
Het |
| Ahnak |
C |
A |
19: 8,992,464 (GRCm39) |
P4583T |
probably damaging |
Het |
| Alpi |
T |
C |
1: 87,029,247 (GRCm39) |
D4G |
probably benign |
Het |
| Anks6 |
C |
T |
4: 47,030,795 (GRCm39) |
G601S |
probably damaging |
Het |
| Aplnr |
T |
C |
2: 84,967,289 (GRCm39) |
Y105H |
probably damaging |
Het |
| Arhgap9 |
G |
A |
10: 127,162,875 (GRCm39) |
R395K |
possibly damaging |
Het |
| Asah1 |
A |
G |
8: 41,807,067 (GRCm39) |
M119T |
|
Het |
| Atp5f1b |
T |
C |
10: 127,919,856 (GRCm39) |
F75L |
probably damaging |
Het |
| B4galt6 |
G |
T |
18: 20,861,026 (GRCm39) |
N75K |
possibly damaging |
Het |
| Bco1 |
A |
T |
8: 117,857,833 (GRCm39) |
H486L |
probably benign |
Het |
| Btaf1 |
T |
A |
19: 36,947,351 (GRCm39) |
L480Q |
probably null |
Het |
| Ccdc34 |
G |
T |
2: 109,871,078 (GRCm39) |
|
probably null |
Het |
| Cdh19 |
T |
C |
1: 110,852,958 (GRCm39) |
S326G |
probably benign |
Het |
| Cep89 |
A |
G |
7: 35,109,055 (GRCm39) |
D178G |
possibly damaging |
Het |
| Cyp11b2 |
A |
T |
15: 74,725,854 (GRCm39) |
|
probably null |
Het |
| Cyp21a1 |
A |
G |
17: 35,022,383 (GRCm39) |
I157T |
possibly damaging |
Het |
| Dcbld2 |
A |
G |
16: 58,245,074 (GRCm39) |
D116G |
probably damaging |
Het |
| Ddx5 |
T |
C |
11: 106,674,953 (GRCm39) |
Q377R |
probably damaging |
Het |
| Deup1 |
T |
C |
9: 15,503,724 (GRCm39) |
D279G |
probably damaging |
Het |
| F11 |
G |
A |
8: 45,698,770 (GRCm39) |
A458V |
probably benign |
Het |
| Fhad1 |
C |
A |
4: 141,645,618 (GRCm39) |
G326W |
probably damaging |
Het |
| Fhit |
C |
T |
14: 10,421,522 (GRCm38) |
V26M |
probably damaging |
Het |
| Gjb5 |
A |
T |
4: 127,250,015 (GRCm39) |
V43E |
probably damaging |
Het |
| Grtp1 |
A |
T |
8: 13,242,184 (GRCm39) |
I75N |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,533,221 (GRCm39) |
I3022T |
possibly damaging |
Het |
| Hsp90ab1 |
T |
C |
17: 45,881,962 (GRCm39) |
T166A |
probably benign |
Het |
| Ift70b |
T |
C |
2: 75,768,391 (GRCm39) |
I121V |
probably benign |
Het |
| Iho1 |
C |
T |
9: 108,289,713 (GRCm39) |
V170M |
probably benign |
Het |
| Ikbke |
GCC |
G |
1: 131,203,004 (GRCm39) |
|
probably null |
Het |
| Kcnk10 |
T |
C |
12: 98,401,161 (GRCm39) |
I491V |
probably benign |
Het |
| Kcp |
A |
T |
6: 29,497,628 (GRCm39) |
C519* |
probably null |
Het |
| Lcmt2 |
T |
C |
2: 120,970,217 (GRCm39) |
T69A |
probably benign |
Het |
| Lmf1 |
A |
G |
17: 25,804,592 (GRCm39) |
Y90C |
probably damaging |
Het |
| Lpp |
A |
G |
16: 24,798,064 (GRCm39) |
D612G |
probably damaging |
Het |
| Lrfn5 |
C |
A |
12: 61,886,461 (GRCm39) |
S83Y |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,592,719 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
C |
T |
2: 41,679,074 (GRCm39) |
C6Y |
probably damaging |
Het |
| Lrrc8c |
A |
G |
5: 105,754,993 (GRCm39) |
D256G |
probably damaging |
Het |
| Mphosph10 |
A |
G |
7: 64,032,656 (GRCm39) |
Y478H |
probably damaging |
Het |
| Mpp2 |
T |
C |
11: 101,955,124 (GRCm39) |
H167R |
probably benign |
Het |
| Mtss1 |
A |
G |
15: 58,815,767 (GRCm39) |
S598P |
probably damaging |
Het |
| Myh10 |
A |
G |
11: 68,684,049 (GRCm39) |
E1154G |
probably damaging |
Het |
| Myo10 |
T |
C |
15: 25,808,270 (GRCm39) |
V1218A |
probably damaging |
Het |
| Myo19 |
A |
G |
11: 84,792,328 (GRCm39) |
K599R |
probably damaging |
Het |
| Neurl4 |
T |
C |
11: 69,798,134 (GRCm39) |
M771T |
probably damaging |
Het |
| Nlrc4 |
A |
G |
17: 74,753,936 (GRCm39) |
V149A |
probably benign |
Het |
| Nup133 |
A |
T |
8: 124,641,935 (GRCm39) |
S843T |
probably benign |
Het |
| Or2y1c |
T |
C |
11: 49,361,358 (GRCm39) |
C127R |
probably damaging |
Het |
| Or51k1 |
T |
C |
7: 103,661,777 (GRCm39) |
N44S |
probably damaging |
Het |
| P3h2 |
A |
G |
16: 25,811,412 (GRCm39) |
|
probably null |
Het |
| Piezo2 |
A |
T |
18: 63,278,042 (GRCm39) |
Y287* |
probably null |
Het |
| Prob1 |
T |
C |
18: 35,785,605 (GRCm39) |
Y883C |
probably damaging |
Het |
| Pxdn |
T |
A |
12: 30,050,011 (GRCm39) |
H506Q |
probably benign |
Het |
| Ripor3 |
T |
C |
2: 167,827,037 (GRCm39) |
D658G |
probably benign |
Het |
| Rufy1 |
T |
A |
11: 50,301,434 (GRCm39) |
I333L |
probably benign |
Het |
| Selenok |
T |
A |
14: 29,692,064 (GRCm39) |
V34E |
probably benign |
Het |
| Selplg |
T |
C |
5: 113,957,787 (GRCm39) |
E173G |
possibly damaging |
Het |
| Septin10 |
A |
G |
10: 59,016,943 (GRCm39) |
F194L |
probably damaging |
Het |
| Sptbn2 |
A |
T |
19: 4,779,230 (GRCm39) |
|
probably null |
Het |
| St6galnac6 |
C |
T |
2: 32,498,098 (GRCm39) |
P6S |
probably benign |
Het |
| Syngr2 |
T |
C |
11: 117,704,296 (GRCm39) |
Y194H |
probably damaging |
Het |
| Thbs4 |
A |
G |
13: 92,894,576 (GRCm39) |
I649T |
possibly damaging |
Het |
| Triobp |
T |
A |
15: 78,850,816 (GRCm39) |
N323K |
probably benign |
Het |
| Tuba8 |
T |
A |
6: 121,197,548 (GRCm39) |
L70Q |
probably damaging |
Het |
| Vmn2r61 |
A |
G |
7: 41,949,478 (GRCm39) |
T633A |
probably benign |
Het |
| Zfp280b |
G |
T |
10: 75,875,188 (GRCm39) |
V356L |
probably damaging |
Het |
| Zswim4 |
A |
T |
8: 84,944,001 (GRCm39) |
V746D |
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 |
|
|
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'- CAACTGCTTTGTGAACATCTACTTGG -3'
(R):5'- TAAGTGGATCCTTGAACACCCG -3'
Sequencing Primer
(F):5'- GAATCCTTGGGAAAATGTCCTCC -3'
(R):5'- CCGGAATCTGCATACAATCTTG -3'
|
| Posted On |
2017-06-29 |
Incidental Mutation