Incidental Mutation 'R7143:Agl'
| ID |
553522 |
| 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 |
045222-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.345)
|
| Stock # |
R7143 (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 116585670 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 153
(S153P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143582
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040603]
[ENSMUST00000159670]
[ENSMUST00000159742]
[ENSMUST00000161336]
[ENSMUST00000162792]
|
| AlphaFold |
F8VPN4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040603
AA Change: S153P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000044012
Gene: ENSMUSG00000033400
AA Change: S153P
| 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 damaging
Transcript: ENSMUST00000159742
AA Change: S153P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000143582
Gene: ENSMUSG00000033400
AA Change: S153P
| 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: S153P
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000123877
Gene: ENSMUSG00000033400
AA Change: S153P
| 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: S153P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124149
Gene: ENSMUSG00000033400
AA Change: S153P
| 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: 99.2%
|
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930516K23Rik |
C |
T |
7: 103,708,422 (GRCm39) |
C129Y |
probably damaging |
Het |
| Agbl4 |
A |
G |
4: 111,474,333 (GRCm39) |
N374S |
probably damaging |
Het |
| Akap6 |
T |
G |
12: 52,934,147 (GRCm39) |
D546E |
probably benign |
Het |
| Ankrd17 |
C |
A |
5: 90,433,820 (GRCm39) |
A650S |
possibly damaging |
Het |
| Ankrd53 |
A |
G |
6: 83,739,893 (GRCm39) |
R16G |
possibly damaging |
Het |
| Apba2 |
T |
C |
7: 64,394,165 (GRCm39) |
L570P |
probably damaging |
Het |
| Asap1 |
A |
G |
15: 64,063,377 (GRCm39) |
F101L |
probably damaging |
Het |
| Cadm4 |
T |
A |
7: 24,198,992 (GRCm39) |
I89N |
possibly damaging |
Het |
| Cadps |
C |
T |
14: 12,491,838 (GRCm38) |
V771I |
probably benign |
Het |
| Cenph |
A |
G |
13: 100,898,285 (GRCm39) |
V206A |
possibly damaging |
Het |
| Cenpn |
A |
G |
8: 117,663,966 (GRCm39) |
T253A |
probably benign |
Het |
| Cep120 |
C |
T |
18: 53,816,457 (GRCm39) |
G939R |
probably benign |
Het |
| Cfap57 |
G |
A |
4: 118,477,906 (GRCm39) |
|
probably benign |
Het |
| Clip1 |
T |
C |
5: 123,791,673 (GRCm39) |
I166V |
probably benign |
Het |
| Cstf3 |
T |
A |
2: 104,476,961 (GRCm39) |
V144E |
probably benign |
Het |
| Cyp21a1 |
T |
A |
17: 35,021,300 (GRCm39) |
H357L |
probably damaging |
Het |
| Cyth3 |
T |
A |
5: 143,670,151 (GRCm39) |
V12E |
unknown |
Het |
| Dgat2 |
T |
C |
7: 98,806,331 (GRCm39) |
I289V |
probably benign |
Het |
| Dip2a |
A |
G |
10: 76,133,625 (GRCm39) |
C527R |
probably damaging |
Het |
| Dnah17 |
A |
C |
11: 117,976,956 (GRCm39) |
W1879G |
probably damaging |
Het |
| Dnai2 |
A |
G |
11: 114,645,076 (GRCm39) |
T504A |
possibly damaging |
Het |
| Efl1 |
C |
T |
7: 82,411,888 (GRCm39) |
P759L |
probably damaging |
Het |
| Egfr |
A |
C |
11: 16,821,627 (GRCm39) |
I351L |
probably benign |
Het |
| Ercc6 |
G |
A |
14: 32,292,262 (GRCm39) |
E1209K |
probably damaging |
Het |
| Fam135b |
A |
T |
15: 71,351,000 (GRCm39) |
M292K |
probably benign |
Het |
| Fbxl7 |
C |
A |
15: 26,543,244 (GRCm39) |
V468L |
probably benign |
Het |
| Fhl2 |
G |
T |
1: 43,181,011 (GRCm39) |
H60N |
probably damaging |
Het |
| G6pc1 |
G |
T |
11: 101,261,549 (GRCm39) |
R83L |
probably damaging |
Het |
| Gata4 |
C |
A |
14: 63,442,066 (GRCm39) |
R252L |
probably damaging |
Het |
| Glt8d1 |
T |
A |
14: 30,728,602 (GRCm39) |
I10N |
probably damaging |
Het |
| Gm10803 |
T |
A |
2: 93,394,304 (GRCm39) |
Y25* |
probably null |
Het |
| Gm19345 |
T |
C |
7: 19,591,759 (GRCm39) |
F108S |
unknown |
Het |
| Gm4952 |
A |
G |
19: 12,595,771 (GRCm39) |
T54A |
possibly damaging |
Het |
| Gprc6a |
C |
T |
10: 51,490,986 (GRCm39) |
R921H |
probably benign |
Het |
| Hc |
A |
T |
2: 34,940,450 (GRCm39) |
H129Q |
probably benign |
Het |
| Heatr5a |
T |
C |
12: 52,008,251 (GRCm39) |
R31G |
probably benign |
Het |
| Hephl1 |
T |
C |
9: 14,972,106 (GRCm39) |
K945E |
possibly damaging |
Het |
| Ik |
G |
T |
18: 36,884,230 (GRCm39) |
M237I |
probably damaging |
Het |
| Izumo1 |
T |
A |
7: 45,276,519 (GRCm39) |
S361T |
probably benign |
Het |
| Kcnq4 |
A |
G |
4: 120,568,436 (GRCm39) |
F427L |
probably benign |
Het |
| Kifap3 |
T |
A |
1: 163,683,609 (GRCm39) |
M430K |
possibly damaging |
Het |
| Kifap3 |
A |
T |
1: 163,653,428 (GRCm39) |
N338I |
possibly damaging |
Het |
| Lamb3 |
A |
G |
1: 192,986,873 (GRCm39) |
E53G |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,202,655 (GRCm39) |
I1266K |
|
Het |
| Nat8 |
A |
T |
6: 85,807,485 (GRCm39) |
I216K |
probably benign |
Het |
| Ncapd2 |
T |
C |
6: 125,156,524 (GRCm39) |
I454V |
probably benign |
Het |
| Nlrp4f |
A |
T |
13: 65,343,120 (GRCm39) |
V153E |
probably damaging |
Het |
| Nlrp4f |
G |
C |
13: 65,347,166 (GRCm39) |
Q9E |
possibly damaging |
Het |
| Npy2r |
A |
T |
3: 82,448,250 (GRCm39) |
I175N |
probably benign |
Het |
| Nutm1 |
G |
A |
2: 112,080,401 (GRCm39) |
R505C |
probably damaging |
Het |
| Or1l4b |
A |
G |
2: 37,036,886 (GRCm39) |
T221A |
probably benign |
Het |
| Or4a74 |
T |
C |
2: 89,440,363 (GRCm39) |
M28V |
probably benign |
Het |
| Or52n3 |
C |
T |
7: 104,530,393 (GRCm39) |
P160S |
probably damaging |
Het |
| Pcdh9 |
T |
C |
14: 94,125,708 (GRCm39) |
N154S |
probably damaging |
Het |
| Pcdhb2 |
A |
T |
18: 37,428,934 (GRCm39) |
E302D |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,908,836 (GRCm39) |
V5048E |
unknown |
Het |
| Pcnt |
A |
G |
10: 76,224,894 (GRCm39) |
L1870S |
possibly damaging |
Het |
| Pigc |
T |
C |
1: 161,798,161 (GRCm39) |
Y48H |
probably damaging |
Het |
| Pisd |
C |
T |
5: 32,895,846 (GRCm39) |
V241I |
possibly damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,437,033 (GRCm39) |
M3464L |
possibly damaging |
Het |
| Pofut2 |
T |
A |
10: 77,095,260 (GRCm39) |
I35N |
probably benign |
Het |
| Prss27 |
A |
G |
17: 24,264,632 (GRCm39) |
Y265C |
probably damaging |
Het |
| Prss56 |
T |
A |
1: 87,115,875 (GRCm39) |
I583K |
probably benign |
Het |
| Rnpep |
T |
C |
1: 135,211,487 (GRCm39) |
E87G |
probably benign |
Het |
| Shtn1 |
T |
C |
19: 59,007,338 (GRCm39) |
H304R |
probably damaging |
Het |
| Slc23a4 |
A |
T |
6: 34,955,848 (GRCm39) |
I62N |
probably damaging |
Het |
| Slc35e2 |
A |
T |
4: 155,703,051 (GRCm39) |
I355F |
probably benign |
Het |
| Snx25 |
T |
C |
8: 46,488,752 (GRCm39) |
I868V |
possibly damaging |
Het |
| Spatc1l |
T |
A |
10: 76,405,765 (GRCm39) |
L323Q |
probably damaging |
Het |
| Speer4a2 |
T |
A |
5: 26,290,674 (GRCm39) |
I166F |
probably benign |
Het |
| Taok1 |
A |
G |
11: 77,428,814 (GRCm39) |
V962A |
probably benign |
Het |
| Tas2r140 |
A |
G |
6: 133,032,482 (GRCm39) |
I92T |
probably benign |
Het |
| Trim17 |
C |
A |
11: 58,856,010 (GRCm39) |
Y22* |
probably null |
Het |
| Tti1 |
T |
A |
2: 157,849,596 (GRCm39) |
M548L |
probably benign |
Het |
| Unc93b1 |
T |
C |
19: 3,985,204 (GRCm39) |
V4A |
unknown |
Het |
| Utp3 |
G |
C |
5: 88,702,376 (GRCm39) |
|
probably benign |
Het |
| Vmn1r225 |
A |
T |
17: 20,722,646 (GRCm39) |
Y29F |
probably benign |
Het |
| Vmn1r34 |
A |
T |
6: 66,614,648 (GRCm39) |
I30N |
probably benign |
Het |
| Vmn2r67 |
T |
A |
7: 84,801,846 (GRCm39) |
M152L |
probably benign |
Het |
| Wdr20rt |
T |
G |
12: 65,272,692 (GRCm39) |
F52V |
probably benign |
Het |
| Zfp869 |
G |
T |
8: 70,159,306 (GRCm39) |
H422Q |
probably 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 |
|
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'- ATGGCCAATTGCTCCCTTTG -3'
(R):5'- GCCTTTGAGATAGAATCCAACTGAG -3'
Sequencing Primer
(F):5'- TTGTTAACCTGACCCACATAACCTG -3'
(R):5'- ATTTTCCCACTAAGAATGTTCTCG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation