Incidental Mutation 'PIT4445001:Agl'
| ID |
555381 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Agl
|
| Ensembl Gene |
ENSMUSG00000033400 |
| Gene Name |
amylo-1,6-glucosidase, 4-alpha-glucanotransferase |
| Synonyms |
9430004C13Rik, 9630046L06Rik, 1110061O17Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.307)
|
| Stock # |
PIT4445001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
116739999-116808166 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116771460 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 382
(M382V)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040603]
[ENSMUST00000159742]
[ENSMUST00000161336]
[ENSMUST00000162792]
|
| AlphaFold |
F8VPN4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040603
AA Change: M1047V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000044012
Gene: ENSMUSG00000033400
AA Change: M1047V
| 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: ENSMUST00000159742
AA Change: M1047V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000143582
Gene: ENSMUSG00000033400
AA Change: M1047V
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000123985
Gene: ENSMUSG00000033400
AA Change: M382V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:hGDE_central
|
33 |
310 |
2.8e-87 |
PFAM |
|
Pfam:GDE_C
|
379 |
830 |
1.3e-126 |
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 |
probably benign
Transcript: ENSMUST00000162792
AA Change: M1047V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000124149
Gene: ENSMUSG00000033400
AA Change: M1047V
| 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: 93.5%
- 3x: 90.8%
- 10x: 84.5%
- 20x: 70.9%
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
C |
11: 110,075,551 (GRCm38) |
K419E |
probably damaging |
Het |
| Adam7 |
T |
A |
14: 68,509,748 (GRCm38) |
K587N |
possibly damaging |
Het |
| Agpat3 |
A |
T |
10: 78,274,093 (GRCm38) |
F341I |
possibly damaging |
Het |
| Ampd2 |
A |
T |
3: 108,075,012 (GRCm38) |
L767Q |
probably damaging |
Het |
| Arhgap28 |
A |
T |
17: 67,896,235 (GRCm38) |
D124E |
possibly damaging |
Het |
| Arhgap32 |
T |
C |
9: 32,260,856 (GRCm38) |
L1644P |
probably damaging |
Het |
| Asic4 |
T |
C |
1: 75,451,127 (GRCm38) |
V99A |
probably benign |
Het |
| Asns |
T |
A |
6: 7,689,277 (GRCm38) |
N75I |
probably damaging |
Het |
| Atp10a |
A |
G |
7: 58,803,467 (GRCm38) |
D798G |
probably damaging |
Het |
| Atp8a1 |
A |
G |
5: 67,622,660 (GRCm38) |
V1145A |
|
Het |
| BC017158 |
A |
G |
7: 128,276,534 (GRCm38) |
V243A |
probably benign |
Het |
| Ccdc171 |
A |
G |
4: 83,661,747 (GRCm38) |
Q577R |
probably damaging |
Het |
| Cd247 |
T |
A |
1: 165,861,036 (GRCm38) |
D154E |
probably damaging |
Het |
| Ceacam1 |
A |
T |
7: 25,476,456 (GRCm38) |
N104K |
probably damaging |
Het |
| Chfr |
A |
G |
5: 110,151,677 (GRCm38) |
D312G |
possibly damaging |
Het |
| Ddb1 |
C |
A |
19: 10,625,970 (GRCm38) |
L881I |
probably damaging |
Het |
| Dgkh |
A |
T |
14: 78,575,942 (GRCm38) |
I1032N |
possibly damaging |
Het |
| Efcab6 |
A |
T |
15: 83,904,267 (GRCm38) |
V942D |
probably benign |
Het |
| Fmo5 |
A |
G |
3: 97,651,528 (GRCm38) |
T435A |
probably benign |
Het |
| Fpr1 |
T |
C |
17: 17,876,893 (GRCm38) |
Q278R |
probably benign |
Het |
| Fzr1 |
C |
T |
10: 81,369,394 (GRCm38) |
W256* |
probably null |
Het |
| Gabrb1 |
T |
C |
5: 72,108,782 (GRCm38) |
S261P |
probably damaging |
Het |
| Galr2 |
G |
T |
11: 116,281,648 (GRCm38) |
A55S |
probably benign |
Het |
| Gbp2 |
A |
T |
3: 142,637,466 (GRCm38) |
K581N |
probably benign |
Het |
| Gm7682 |
T |
G |
5: 94,448,507 (GRCm38) |
W468G |
probably benign |
Het |
| Gria1 |
A |
T |
11: 57,185,838 (GRCm38) |
Y89F |
probably damaging |
Het |
| Ibsp |
T |
A |
5: 104,302,304 (GRCm38) |
I26N |
possibly damaging |
Het |
| Igf1r |
T |
C |
7: 68,207,463 (GRCm38) |
F1058L |
probably damaging |
Het |
| Ighv1-16 |
A |
C |
12: 114,666,060 (GRCm38) |
C36G |
probably benign |
Het |
| Igll1 |
T |
C |
16: 16,860,919 (GRCm38) |
T176A |
probably benign |
Het |
| Ilkap |
T |
C |
1: 91,385,345 (GRCm38) |
T143A |
probably benign |
Het |
| Kdm3b |
A |
T |
18: 34,793,115 (GRCm38) |
K103* |
probably null |
Het |
| Mphosph9 |
A |
G |
5: 124,298,790 (GRCm38) |
I497T |
possibly damaging |
Het |
| Mrgpra3 |
G |
A |
7: 47,590,160 (GRCm38) |
T6I |
possibly damaging |
Het |
| Mrpl38 |
T |
C |
11: 116,132,558 (GRCm38) |
|
probably null |
Het |
| Myo3a |
A |
T |
2: 22,542,415 (GRCm38) |
E813V |
possibly damaging |
Het |
| Myo7b |
G |
T |
18: 31,959,466 (GRCm38) |
Q2093K |
possibly damaging |
Het |
| Myo7b |
T |
C |
18: 31,962,352 (GRCm38) |
K1851R |
probably damaging |
Het |
| P3h2 |
T |
A |
16: 25,984,999 (GRCm38) |
D339V |
probably benign |
Het |
| Pcdhb6 |
C |
A |
18: 37,335,247 (GRCm38) |
P407Q |
possibly damaging |
Het |
| Plch2 |
C |
A |
4: 155,009,026 (GRCm38) |
R153L |
probably damaging |
Het |
| Plppr4 |
G |
A |
3: 117,360,308 (GRCm38) |
|
probably benign |
Het |
| Ppp1r3a |
A |
G |
6: 14,717,777 (GRCm38) |
F1046S |
probably damaging |
Het |
| Prkacb |
A |
T |
3: 146,755,691 (GRCm38) |
L107M |
probably benign |
Het |
| Ranbp17 |
A |
G |
11: 33,481,020 (GRCm38) |
|
probably null |
Het |
| Rasl11b |
C |
A |
5: 74,197,333 (GRCm38) |
P88Q |
probably damaging |
Het |
| Rcc2 |
A |
G |
4: 140,721,149 (GRCm38) |
E503G |
possibly damaging |
Het |
| Rnf216 |
T |
A |
5: 143,086,003 (GRCm38) |
K407N |
probably damaging |
Het |
| Scrn3 |
G |
A |
2: 73,318,329 (GRCm38) |
M81I |
possibly damaging |
Het |
| Scube2 |
T |
C |
7: 109,809,180 (GRCm38) |
T687A |
probably benign |
Het |
| Serpinb10 |
T |
A |
1: 107,535,998 (GRCm38) |
F3L |
probably benign |
Het |
| Sgcb |
C |
T |
5: 73,639,812 (GRCm38) |
V202I |
probably damaging |
Het |
| Sgce |
A |
G |
6: 4,689,654 (GRCm38) |
V429A |
possibly damaging |
Het |
| Sh3rf2 |
T |
C |
18: 42,153,164 (GRCm38) |
V574A |
probably benign |
Het |
| Sncaip |
T |
C |
18: 52,868,944 (GRCm38) |
L179S |
probably damaging |
Het |
| Sntg2 |
A |
T |
12: 30,312,572 (GRCm38) |
D58E |
probably damaging |
Het |
| Taar3 |
T |
C |
10: 23,949,688 (GRCm38) |
I44T |
possibly damaging |
Het |
| Tmem87b |
G |
A |
2: 128,831,471 (GRCm38) |
V227I |
probably benign |
Het |
| Tnfsf9 |
T |
C |
17: 57,105,517 (GRCm38) |
L29P |
possibly damaging |
Het |
| Tnip2 |
T |
C |
5: 34,496,871 (GRCm38) |
H391R |
probably benign |
Het |
| Traf5 |
A |
G |
1: 191,997,807 (GRCm38) |
Y125H |
|
Het |
| Ttc23 |
T |
G |
7: 67,667,213 (GRCm38) |
I77M |
probably damaging |
Het |
| Ube2l3 |
T |
C |
16: 17,160,172 (GRCm38) |
N43S |
probably benign |
Het |
| Vars2 |
A |
T |
17: 35,666,211 (GRCm38) |
C142* |
probably null |
Het |
| Vmn2r15 |
A |
C |
5: 109,287,142 (GRCm38) |
D565E |
probably damaging |
Het |
| Vmn2r56 |
C |
T |
7: 12,715,226 (GRCm38) |
|
probably null |
Het |
| Vmn2r79 |
A |
T |
7: 87,002,200 (GRCm38) |
D269V |
possibly damaging |
Het |
| Vmn2r85 |
A |
T |
10: 130,425,703 (GRCm38) |
M255K |
probably benign |
Het |
| Wfdc6a |
T |
A |
2: 164,579,826 (GRCm38) |
*137C |
probably null |
Het |
| Wipi2 |
T |
C |
5: 142,666,884 (GRCm38) |
V417A |
probably benign |
Het |
| Xirp2 |
G |
T |
2: 67,509,772 (GRCm38) |
V786L |
possibly damaging |
Het |
| Zdhhc13 |
G |
A |
7: 48,795,949 (GRCm38) |
G26S |
probably benign |
Het |
| Zscan25 |
T |
A |
5: 145,290,612 (GRCm38) |
V362D |
probably damaging |
Het |
|
| Other mutations in Agl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00235:Agl
|
APN |
3 |
116,771,483 (GRCm38) |
missense |
probably benign |
0.10 |
|
IGL00500:Agl
|
APN |
3 |
116,772,820 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00691:Agl
|
APN |
3 |
116,779,258 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
IGL00711:Agl
|
APN |
3 |
116,793,627 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01291:Agl
|
APN |
3 |
116,772,789 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
IGL01641:Agl
|
APN |
3 |
116,784,455 (GRCm38) |
nonsense |
probably null |
|
|
IGL01860:Agl
|
APN |
3 |
116,772,526 (GRCm38) |
splice site |
probably benign |
|
|
IGL01893:Agl
|
APN |
3 |
116,788,549 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02193:Agl
|
APN |
3 |
116,779,166 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02379:Agl
|
APN |
3 |
116,779,091 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02485:Agl
|
APN |
3 |
116,779,080 (GRCm38) |
missense |
probably benign |
|
|
IGL02644:Agl
|
APN |
3 |
116,786,597 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02673:Agl
|
APN |
3 |
116,781,599 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02693:Agl
|
APN |
3 |
116,746,428 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
IGL02733:Agl
|
APN |
3 |
116,780,997 (GRCm38) |
missense |
probably benign |
|
|
IGL03089:Agl
|
APN |
3 |
116,781,023 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03271:Agl
|
APN |
3 |
116,779,127 (GRCm38) |
missense |
probably benign |
0.00 |
|
ANU05:Agl
|
UTSW |
3 |
116,772,789 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R0013:Agl
|
UTSW |
3 |
116,776,608 (GRCm38) |
nonsense |
probably null |
|
|
R0013:Agl
|
UTSW |
3 |
116,776,608 (GRCm38) |
nonsense |
probably null |
|
|
R0022:Agl
|
UTSW |
3 |
116,793,836 (GRCm38) |
splice site |
probably null |
|
|
R0092:Agl
|
UTSW |
3 |
116,793,804 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0226:Agl
|
UTSW |
3 |
116,752,071 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0440:Agl
|
UTSW |
3 |
116,758,806 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0488:Agl
|
UTSW |
3 |
116,754,962 (GRCm38) |
nonsense |
probably null |
|
|
R0504:Agl
|
UTSW |
3 |
116,786,784 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0689:Agl
|
UTSW |
3 |
116,793,628 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0715:Agl
|
UTSW |
3 |
116,752,176 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0893:Agl
|
UTSW |
3 |
116,753,286 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1403:Agl
|
UTSW |
3 |
116,782,597 (GRCm38) |
missense |
probably benign |
0.12 |
|
R1403:Agl
|
UTSW |
3 |
116,782,597 (GRCm38) |
missense |
probably benign |
0.12 |
|
R1432:Agl
|
UTSW |
3 |
116,746,693 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1465:Agl
|
UTSW |
3 |
116,771,372 (GRCm38) |
missense |
probably benign |
0.35 |
|
R1465:Agl
|
UTSW |
3 |
116,771,372 (GRCm38) |
missense |
probably benign |
0.35 |
|
R1540:Agl
|
UTSW |
3 |
116,780,735 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1624:Agl
|
UTSW |
3 |
116,787,246 (GRCm38) |
missense |
probably benign |
0.30 |
|
R1640:Agl
|
UTSW |
3 |
116,752,090 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1834:Agl
|
UTSW |
3 |
116,788,351 (GRCm38) |
missense |
probably benign |
0.31 |
|
R1853:Agl
|
UTSW |
3 |
116,779,322 (GRCm38) |
nonsense |
probably null |
|
|
R2004:Agl
|
UTSW |
3 |
116,781,265 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2184:Agl
|
UTSW |
3 |
116,780,777 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2227:Agl
|
UTSW |
3 |
116,788,312 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R3053:Agl
|
UTSW |
3 |
116,791,033 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4181:Agl
|
UTSW |
3 |
116,746,630 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4241:Agl
|
UTSW |
3 |
116,754,848 (GRCm38) |
intron |
probably benign |
|
|
R4284:Agl
|
UTSW |
3 |
116,752,178 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R4285:Agl
|
UTSW |
3 |
116,752,178 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R4302:Agl
|
UTSW |
3 |
116,746,630 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4791:Agl
|
UTSW |
3 |
116,786,528 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4854:Agl
|
UTSW |
3 |
116,778,618 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4968:Agl
|
UTSW |
3 |
116,788,526 (GRCm38) |
missense |
probably benign |
0.31 |
|
R5075:Agl
|
UTSW |
3 |
116,793,807 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5219:Agl
|
UTSW |
3 |
116,778,721 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R5274:Agl
|
UTSW |
3 |
116,772,486 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5347:Agl
|
UTSW |
3 |
116,791,165 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5399:Agl
|
UTSW |
3 |
116,781,628 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5511:Agl
|
UTSW |
3 |
116,788,560 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R5763:Agl
|
UTSW |
3 |
116,753,360 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5827:Agl
|
UTSW |
3 |
116,781,054 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5964:Agl
|
UTSW |
3 |
116,793,774 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5967:Agl
|
UTSW |
3 |
116,793,708 (GRCm38) |
missense |
probably benign |
0.06 |
|
R5986:Agl
|
UTSW |
3 |
116,772,496 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6127:Agl
|
UTSW |
3 |
116,758,329 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6209:Agl
|
UTSW |
3 |
116,785,196 (GRCm38) |
nonsense |
probably null |
|
|
R6252:Agl
|
UTSW |
3 |
116,787,229 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6337:Agl
|
UTSW |
3 |
116,786,777 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R6366:Agl
|
UTSW |
3 |
116,791,117 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6441:Agl
|
UTSW |
3 |
116,771,459 (GRCm38) |
missense |
probably benign |
0.21 |
|
R6647:Agl
|
UTSW |
3 |
116,750,411 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6678:Agl
|
UTSW |
3 |
116,753,320 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6736:Agl
|
UTSW |
3 |
116,781,680 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7141:Agl
|
UTSW |
3 |
116,753,286 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7143:Agl
|
UTSW |
3 |
116,792,021 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7204:Agl
|
UTSW |
3 |
116,793,820 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7259:Agl
|
UTSW |
3 |
116,784,581 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7393:Agl
|
UTSW |
3 |
116,791,156 (GRCm38) |
missense |
probably benign |
|
|
R7426:Agl
|
UTSW |
3 |
116,758,755 (GRCm38) |
missense |
|
|
|
R7559:Agl
|
UTSW |
3 |
116,752,115 (GRCm38) |
missense |
|
|
|
R7587:Agl
|
UTSW |
3 |
116,792,087 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7609:Agl
|
UTSW |
3 |
116,807,279 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7657:Agl
|
UTSW |
3 |
116,779,163 (GRCm38) |
missense |
|
|
|
R7715:Agl
|
UTSW |
3 |
116,758,256 (GRCm38) |
missense |
|
|
|
R7735:Agl
|
UTSW |
3 |
116,785,146 (GRCm38) |
missense |
probably benign |
0.21 |
|
R7770:Agl
|
UTSW |
3 |
116,758,237 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7980:Agl
|
UTSW |
3 |
116,792,181 (GRCm38) |
missense |
probably benign |
0.08 |
|
R8186:Agl
|
UTSW |
3 |
116,758,908 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R8215:Agl
|
UTSW |
3 |
116,788,644 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8336:Agl
|
UTSW |
3 |
116,772,846 (GRCm38) |
missense |
|
|
|
R8709:Agl
|
UTSW |
3 |
116,772,472 (GRCm38) |
missense |
|
|
|
R9545:Agl
|
UTSW |
3 |
116,788,689 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
X0065:Agl
|
UTSW |
3 |
116,781,330 (GRCm38) |
nonsense |
probably null |
|
|
Z1177:Agl
|
UTSW |
3 |
116,781,036 (GRCm38) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCATTACAGCTGTTCCCAC -3'
(R):5'- GTGTCTAGCAAGCATACGGC -3'
Sequencing Primer
(F):5'- ACAGCTGTTCCCACCTGAC -3'
(R):5'- TCTGTAATGGGACCCAATGC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation