Incidental Mutation 'R7980:Agl'
| ID |
651125 |
| 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 |
046021-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.345)
|
| Stock # |
R7980 (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 T
at 116585830 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 99
(N99K)
|
| 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: N99K
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000044012
Gene: ENSMUSG00000033400
AA Change: N99K
| 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: N99K
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000124840
Gene: ENSMUSG00000033400
AA Change: N99K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:hGDE_N
|
30 |
117 |
7.9e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159742
AA Change: N99K
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000143582
Gene: ENSMUSG00000033400
AA Change: N99K
| 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: N99K
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000123877
Gene: ENSMUSG00000033400
AA Change: N99K
| 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: N99K
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000124149
Gene: ENSMUSG00000033400
AA Change: N99K
| 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 |
0.0611 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (87/87) |
| 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: 89 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
A |
G |
4: 88,786,315 (GRCm39) |
L101P |
unknown |
Het |
| Actn3 |
G |
A |
19: 4,917,950 (GRCm39) |
P339L |
probably damaging |
Het |
| Adamts12 |
G |
A |
15: 11,263,423 (GRCm39) |
C595Y |
probably damaging |
Het |
| Adrm1b |
T |
A |
3: 92,336,406 (GRCm39) |
K99* |
probably null |
Het |
| Aplp1 |
A |
T |
7: 30,134,992 (GRCm39) |
M592K |
probably benign |
Het |
| Arhgef11 |
C |
T |
3: 87,605,297 (GRCm39) |
R251C |
probably benign |
Het |
| Arhgef12 |
A |
T |
9: 42,882,595 (GRCm39) |
C1416* |
probably null |
Het |
| Asah1 |
A |
G |
8: 41,807,067 (GRCm39) |
M119T |
|
Het |
| Asxl2 |
A |
T |
12: 3,546,630 (GRCm39) |
Q471H |
probably damaging |
Het |
| Atp6v1c2 |
A |
T |
12: 17,371,613 (GRCm39) |
D61E |
probably damaging |
Het |
| Btbd16 |
C |
A |
7: 130,426,097 (GRCm39) |
P520Q |
probably damaging |
Het |
| Cacnb2 |
A |
G |
2: 14,609,326 (GRCm39) |
E22G |
probably benign |
Het |
| Catspere2 |
G |
T |
1: 177,830,610 (GRCm39) |
|
probably null |
Het |
| Cdc25a |
T |
A |
9: 109,708,949 (GRCm39) |
D124E |
probably damaging |
Het |
| Cdc42se1 |
A |
T |
3: 95,139,166 (GRCm39) |
|
probably benign |
Het |
| Cdcp3 |
T |
A |
7: 130,836,506 (GRCm39) |
V400E |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,817,922 (GRCm39) |
K1265E |
possibly damaging |
Het |
| Chaf1b |
A |
G |
16: 93,681,415 (GRCm39) |
H11R |
probably damaging |
Het |
| Chil4 |
T |
C |
3: 106,110,060 (GRCm39) |
K345E |
probably damaging |
Het |
| Cntnap1 |
A |
G |
11: 101,079,719 (GRCm39) |
I1283V |
probably benign |
Het |
| Dagla |
C |
T |
19: 10,229,406 (GRCm39) |
C618Y |
possibly damaging |
Het |
| Ddx19b |
C |
T |
8: 111,738,077 (GRCm39) |
V224M |
possibly damaging |
Het |
| Dohh |
C |
T |
10: 81,223,726 (GRCm39) |
R260* |
probably null |
Het |
| Dsg3 |
A |
T |
18: 20,664,417 (GRCm39) |
N472Y |
probably benign |
Het |
| Duox1 |
T |
A |
2: 122,177,801 (GRCm39) |
N1528K |
possibly damaging |
Het |
| Eml6 |
A |
G |
11: 29,783,205 (GRCm39) |
Y559H |
probably damaging |
Het |
| Esp4 |
A |
G |
17: 40,913,192 (GRCm39) |
T20A |
possibly damaging |
Het |
| Fbxw21 |
T |
C |
9: 108,985,639 (GRCm39) |
|
probably null |
Het |
| Gcc2 |
T |
A |
10: 58,114,574 (GRCm39) |
|
probably null |
Het |
| Grin3b |
C |
T |
10: 79,811,559 (GRCm39) |
A715V |
possibly damaging |
Het |
| Gxylt2 |
A |
T |
6: 100,764,170 (GRCm39) |
|
probably null |
Het |
| Hspa4 |
A |
T |
11: 53,171,404 (GRCm39) |
S267T |
probably benign |
Het |
| Hspd1 |
A |
G |
1: 55,117,785 (GRCm39) |
V491A |
possibly damaging |
Het |
| Idua |
A |
G |
5: 108,828,486 (GRCm39) |
E280G |
probably benign |
Het |
| Ift172 |
T |
A |
5: 31,417,988 (GRCm39) |
E1267V |
probably benign |
Het |
| Itsn1 |
T |
A |
16: 91,702,182 (GRCm39) |
V1448E |
unknown |
Het |
| Kat6a |
A |
G |
8: 23,416,432 (GRCm39) |
M647V |
possibly damaging |
Het |
| Kcnq4 |
A |
T |
4: 120,568,494 (GRCm39) |
D407E |
probably benign |
Het |
| Kif1b |
A |
T |
4: 149,354,378 (GRCm39) |
F221I |
probably damaging |
Het |
| Lama2 |
G |
T |
10: 27,239,609 (GRCm39) |
D315E |
probably damaging |
Het |
| Lrrn4 |
G |
A |
2: 132,720,096 (GRCm39) |
L235F |
probably damaging |
Het |
| Map2k6 |
T |
A |
11: 110,390,210 (GRCm39) |
I248N |
|
Het |
| Mgat5 |
A |
G |
1: 127,407,248 (GRCm39) |
Q638R |
probably benign |
Het |
| Mia2 |
A |
G |
12: 59,155,651 (GRCm39) |
K455E |
probably damaging |
Het |
| Mrs2 |
A |
G |
13: 25,204,221 (GRCm39) |
C3R |
possibly damaging |
Het |
| Nprl3 |
A |
G |
11: 32,187,357 (GRCm39) |
I325T |
probably damaging |
Het |
| Nr1h3 |
T |
A |
2: 91,021,229 (GRCm39) |
Q186L |
probably benign |
Het |
| Oas1f |
A |
G |
5: 120,989,538 (GRCm39) |
E159G |
probably benign |
Het |
| Or2g7 |
A |
T |
17: 38,378,412 (GRCm39) |
M117L |
possibly damaging |
Het |
| Or4k15b |
T |
A |
14: 50,272,252 (GRCm39) |
S203C |
probably damaging |
Het |
| Or52ae7 |
T |
A |
7: 103,119,504 (GRCm39) |
F86Y |
probably damaging |
Het |
| Or52e19b |
T |
A |
7: 103,032,970 (GRCm39) |
I80F |
probably damaging |
Het |
| Or52s1b |
T |
A |
7: 102,822,242 (GRCm39) |
S201C |
probably damaging |
Het |
| Or5m12 |
A |
G |
2: 85,734,942 (GRCm39) |
F152S |
probably benign |
Het |
| Or8g4 |
T |
C |
9: 39,662,417 (GRCm39) |
I245T |
probably damaging |
Het |
| Or9a4 |
T |
A |
6: 40,549,154 (GRCm39) |
I278N |
probably benign |
Het |
| Pbxip1 |
G |
C |
3: 89,353,648 (GRCm39) |
S267T |
probably benign |
Het |
| Pcdhga10 |
A |
T |
18: 37,881,645 (GRCm39) |
I469F |
possibly damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,804,375 (GRCm39) |
S1739P |
probably damaging |
Het |
| Plcd4 |
A |
C |
1: 74,604,464 (GRCm39) |
N788T |
probably benign |
Het |
| Pms2 |
T |
A |
5: 143,867,909 (GRCm39) |
W838R |
probably damaging |
Het |
| Pnpla6 |
T |
A |
8: 3,586,562 (GRCm39) |
V926D |
probably damaging |
Het |
| Pros1 |
A |
T |
16: 62,748,516 (GRCm39) |
H663L |
possibly damaging |
Het |
| Prss55 |
T |
C |
14: 64,316,138 (GRCm39) |
|
probably null |
Het |
| Pum2 |
T |
C |
12: 8,763,904 (GRCm39) |
Y283H |
probably damaging |
Het |
| Rad21 |
A |
G |
15: 51,828,422 (GRCm39) |
S549P |
probably benign |
Het |
| Sap130 |
T |
A |
18: 31,781,182 (GRCm39) |
|
probably null |
Het |
| Sertad4 |
C |
T |
1: 192,529,189 (GRCm39) |
S209N |
probably benign |
Het |
| Sez6 |
A |
G |
11: 77,844,668 (GRCm39) |
T164A |
probably benign |
Het |
| Slc22a28 |
C |
T |
19: 8,078,837 (GRCm39) |
R284Q |
probably damaging |
Het |
| Slco4c1 |
T |
C |
1: 96,764,650 (GRCm39) |
K474R |
probably benign |
Het |
| Stx5a |
T |
C |
19: 8,719,802 (GRCm39) |
S56P |
probably damaging |
Het |
| Svopl |
T |
C |
6: 37,991,744 (GRCm39) |
T379A |
probably damaging |
Het |
| Sypl2 |
A |
G |
3: 108,125,008 (GRCm39) |
F118L |
probably damaging |
Het |
| Tfrc |
G |
A |
16: 32,435,967 (GRCm39) |
V215M |
probably benign |
Het |
| Thnsl2 |
T |
C |
6: 71,115,652 (GRCm39) |
N185S |
probably damaging |
Het |
| Tmem104 |
T |
C |
11: 115,134,580 (GRCm39) |
I372T |
probably damaging |
Het |
| Tnfaip6 |
G |
A |
2: 51,941,070 (GRCm39) |
G204S |
probably damaging |
Het |
| Trim12a |
C |
T |
7: 103,953,335 (GRCm39) |
E259K |
probably benign |
Het |
| Tubgcp6 |
G |
A |
15: 88,986,232 (GRCm39) |
R1436C |
probably benign |
Het |
| Tyrp1 |
C |
T |
4: 80,758,864 (GRCm39) |
L246F |
probably damaging |
Het |
| Ubr4 |
G |
T |
4: 139,145,717 (GRCm39) |
V216F |
|
Het |
| Unc5a |
A |
G |
13: 55,147,319 (GRCm39) |
I409V |
possibly damaging |
Het |
| Vmn1r15 |
T |
C |
6: 57,235,399 (GRCm39) |
L89P |
probably damaging |
Het |
| Vmn1r32 |
A |
T |
6: 66,530,305 (GRCm39) |
L157* |
probably null |
Het |
| Zcchc24 |
A |
G |
14: 25,720,185 (GRCm39) |
Y160H |
probably damaging |
Het |
| Zfp184 |
A |
T |
13: 22,144,376 (GRCm39) |
H694L |
probably damaging |
Het |
| Zfp345 |
A |
C |
2: 150,314,723 (GRCm39) |
Y271* |
probably null |
Het |
| Zranb3 |
T |
C |
1: 128,030,671 (GRCm39) |
|
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 |
|
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 |
|
|
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'- GAGCTGTATCATTGCAACTCTG -3'
(R):5'- CTTCAGGATCTTCTTCAGCTACATAG -3'
Sequencing Primer
(F):5'- AGCTGTATCATTGCAACTCTGGTTAG -3'
(R):5'- CATAGTAAATTTGAGGTGACTTGGGC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation