Incidental Mutation 'R7609:Agl'
| ID |
588472 |
| 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 |
045714-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.360)
|
| Stock # |
R7609 (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 A
at 116600928 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Isoleucine
at position 24
(R24I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143582
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040603]
[ENSMUST00000159670]
[ENSMUST00000159742]
[ENSMUST00000161336]
[ENSMUST00000162792]
|
| AlphaFold |
F8VPN4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040603
AA Change: R24I
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000044012
Gene: ENSMUSG00000033400
AA Change: R24I
| 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 |
possibly damaging
Transcript: ENSMUST00000159670
AA Change: R24I
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000124840
Gene: ENSMUSG00000033400
AA Change: R24I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:hGDE_N
|
30 |
117 |
7.9e-30 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159742
AA Change: R24I
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000143582
Gene: ENSMUSG00000033400
AA Change: R24I
| 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: R24I
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000123877
Gene: ENSMUSG00000033400
AA Change: R24I
| 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 |
possibly damaging
Transcript: ENSMUST00000162792
AA Change: R24I
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000124149
Gene: ENSMUSG00000033400
AA Change: R24I
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
96% (69/72) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
T |
C |
9: 55,896,744 (GRCm39) |
Y288C |
probably benign |
Het |
| Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
| Aldoart2 |
A |
G |
12: 55,612,833 (GRCm39) |
T253A |
probably benign |
Het |
| Ankrd39 |
G |
A |
1: 36,578,546 (GRCm39) |
R160W |
probably damaging |
Het |
| Aspscr1 |
C |
T |
11: 120,568,348 (GRCm39) |
T57M |
probably damaging |
Het |
| Baz2b |
A |
G |
2: 59,792,817 (GRCm39) |
L437S |
probably benign |
Het |
| Bcl9l |
T |
A |
9: 44,417,044 (GRCm39) |
L331Q |
probably damaging |
Het |
| Cdhr4 |
C |
A |
9: 107,874,482 (GRCm39) |
P546T |
probably damaging |
Het |
| Cfap61 |
T |
C |
2: 145,954,453 (GRCm39) |
C231R |
unknown |
Het |
| Cnih4 |
T |
C |
1: 180,983,467 (GRCm39) |
L61P |
probably damaging |
Het |
| Dtx4 |
A |
G |
19: 12,469,645 (GRCm39) |
Y161H |
probably damaging |
Het |
| Epha7 |
C |
T |
4: 28,871,937 (GRCm39) |
S422L |
probably benign |
Het |
| Ercc6 |
A |
G |
14: 32,288,318 (GRCm39) |
H830R |
probably benign |
Het |
| Exoc7 |
T |
C |
11: 116,180,085 (GRCm39) |
N673S |
possibly damaging |
Het |
| Gm12185 |
T |
C |
11: 48,806,850 (GRCm39) |
S114G |
possibly damaging |
Het |
| Hsfy2 |
A |
T |
1: 56,676,310 (GRCm39) |
F76I |
probably benign |
Het |
| Igsf9b |
A |
G |
9: 27,257,186 (GRCm39) |
D1413G |
probably benign |
Het |
| Klk1b8 |
G |
A |
7: 43,451,603 (GRCm39) |
C198Y |
probably damaging |
Het |
| Lama3 |
G |
T |
18: 12,664,891 (GRCm39) |
|
probably null |
Het |
| Lce3f |
A |
T |
3: 92,900,403 (GRCm39) |
S75C |
unknown |
Het |
| Ldhal6b |
T |
C |
17: 5,468,266 (GRCm39) |
M223V |
probably benign |
Het |
| Magoh |
T |
C |
4: 107,744,409 (GRCm39) |
V126A |
possibly damaging |
Het |
| Mc1r |
A |
T |
8: 124,135,032 (GRCm39) |
I262F |
probably damaging |
Het |
| Mecom |
A |
G |
3: 30,010,591 (GRCm39) |
I629T |
probably damaging |
Het |
| Mkrn2os |
A |
G |
6: 115,563,687 (GRCm39) |
V116A |
possibly damaging |
Het |
| Mtcl3 |
A |
T |
10: 29,024,224 (GRCm39) |
D380V |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,415,466 (GRCm39) |
V2804D |
possibly damaging |
Het |
| Myo15a |
T |
C |
11: 60,379,637 (GRCm39) |
V279A |
|
Het |
| Nhlrc2 |
A |
G |
19: 56,583,328 (GRCm39) |
I600V |
probably benign |
Het |
| Nipbl |
T |
C |
15: 8,335,356 (GRCm39) |
Q2183R |
probably benign |
Het |
| Obscn |
C |
T |
11: 58,891,125 (GRCm39) |
E7136K |
unknown |
Het |
| Or10ag56 |
T |
C |
2: 87,139,853 (GRCm39) |
V260A |
probably benign |
Het |
| Or5p4 |
T |
A |
7: 107,680,753 (GRCm39) |
F251I |
probably damaging |
Het |
| Or8c9 |
A |
C |
9: 38,241,520 (GRCm39) |
L209F |
possibly damaging |
Het |
| Or8g37 |
C |
T |
9: 39,731,583 (GRCm39) |
T216I |
probably benign |
Het |
| Otop3 |
T |
C |
11: 115,230,546 (GRCm39) |
I141T |
possibly damaging |
Het |
| Pde4dip |
C |
A |
3: 97,622,881 (GRCm39) |
V1443F |
possibly damaging |
Het |
| Pdgfra |
T |
C |
5: 75,327,382 (GRCm39) |
V193A |
probably benign |
Het |
| Phf3 |
T |
C |
1: 30,844,582 (GRCm39) |
Y1459C |
probably benign |
Het |
| Pias4 |
A |
T |
10: 80,993,860 (GRCm39) |
|
probably null |
Het |
| Plcg2 |
A |
G |
8: 118,284,852 (GRCm39) |
N159S |
probably benign |
Het |
| Plekha7 |
T |
C |
7: 115,763,681 (GRCm39) |
D307G |
probably benign |
Het |
| Ptprd |
T |
C |
4: 75,990,240 (GRCm39) |
K491E |
probably benign |
Het |
| Rbpjl |
A |
T |
2: 164,247,734 (GRCm39) |
R62S |
probably benign |
Het |
| Rgs11 |
T |
C |
17: 26,426,415 (GRCm39) |
S245P |
probably damaging |
Het |
| Ripor3 |
G |
A |
2: 167,826,490 (GRCm39) |
A685V |
possibly damaging |
Het |
| Rnase9 |
G |
A |
14: 51,276,940 (GRCm39) |
P13S |
possibly damaging |
Het |
| Saxo5 |
A |
T |
8: 3,526,057 (GRCm39) |
H70L |
probably benign |
Het |
| Scin |
C |
T |
12: 40,174,588 (GRCm39) |
C165Y |
probably damaging |
Het |
| Senp7 |
T |
C |
16: 55,932,000 (GRCm39) |
W100R |
probably benign |
Het |
| Slc26a2 |
T |
C |
18: 61,331,532 (GRCm39) |
D633G |
probably benign |
Het |
| Slc4a4 |
C |
T |
5: 89,283,545 (GRCm39) |
P446S |
probably damaging |
Het |
| Spag17 |
T |
A |
3: 100,002,911 (GRCm39) |
C1878* |
probably null |
Het |
| Ssc5d |
A |
G |
7: 4,930,575 (GRCm39) |
E129G |
possibly damaging |
Het |
| Supt6 |
T |
C |
11: 78,117,777 (GRCm39) |
N480D |
probably benign |
Het |
| Tbk1 |
A |
G |
10: 121,388,406 (GRCm39) |
L590S |
probably damaging |
Het |
| Tmem63a |
T |
A |
1: 180,780,539 (GRCm39) |
|
probably null |
Het |
| Tpsg1 |
G |
T |
17: 25,592,184 (GRCm39) |
G86V |
probably damaging |
Het |
| Trio |
A |
G |
15: 27,912,728 (GRCm39) |
S109P |
unknown |
Het |
| Tsga10 |
A |
T |
1: 37,843,974 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,626,107 (GRCm39) |
L14984* |
probably null |
Het |
| Tyr |
T |
C |
7: 87,133,092 (GRCm39) |
T325A |
probably benign |
Het |
| U2surp |
A |
T |
9: 95,367,732 (GRCm39) |
|
probably null |
Het |
| Uba6 |
C |
A |
5: 86,294,934 (GRCm39) |
K368N |
probably benign |
Het |
| Upb1 |
A |
G |
10: 75,272,035 (GRCm39) |
T283A |
probably benign |
Het |
| Urb1 |
CACTTAC |
CAC |
16: 90,569,461 (GRCm39) |
|
probably benign |
Het |
| Vmn1r31 |
A |
G |
6: 58,449,455 (GRCm39) |
Y137H |
probably damaging |
Het |
| Wdtc1 |
T |
C |
4: 133,023,748 (GRCm39) |
K541R |
probably damaging |
Het |
| Wrn |
A |
G |
8: 33,800,741 (GRCm39) |
I624T |
possibly damaging |
Het |
| Zfp804b |
T |
A |
5: 6,820,066 (GRCm39) |
D999V |
possibly damaging |
Het |
| Zmym4 |
T |
A |
4: 126,819,588 (GRCm39) |
H105L |
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 |
|
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'- CAATGTACCTACCATTTTGGCAC -3'
(R):5'- GTAAGTGCCGCTGTCAACTC -3'
Sequencing Primer
(F):5'- ACTTAAAGTTATTTGAGTGCGCGAG -3'
(R):5'- CGCTGTCAACTCCAGAGAG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation