Incidental Mutation 'R1640:Agl'
| ID |
173438 |
| 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 |
039676-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.360)
|
| Stock # |
R1640 (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 116545739 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 1352
(H1352Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124149
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040603]
[ENSMUST00000159742]
[ENSMUST00000161336]
[ENSMUST00000162792]
|
| AlphaFold |
F8VPN4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040603
AA Change: H1352Q
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000044012
Gene: ENSMUSG00000033400
AA Change: H1352Q
| 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
|
| SMART Domains |
Protein: ENSMUSP00000143582
Gene: ENSMUSG00000033400
| 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 |
unknown
Transcript: ENSMUST00000160484
AA Change: H687Q
|
| SMART Domains |
Protein: ENSMUSP00000123985
Gene: ENSMUSG00000033400
AA Change: H687Q
| 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: H1352Q
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000124149
Gene: ENSMUSG00000033400
AA Change: H1352Q
| 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: 98.3%
- 10x: 96.1%
- 20x: 92.2%
|
| 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 |
|---|
| 2810004N23Rik |
C |
A |
8: 125,566,584 (GRCm39) |
V279L |
probably damaging |
Het |
| Acot6 |
A |
T |
12: 84,147,900 (GRCm39) |
Y52F |
probably damaging |
Het |
| Adam22 |
C |
T |
5: 8,195,689 (GRCm39) |
V284I |
probably damaging |
Het |
| Aldh18a1 |
G |
A |
19: 40,573,943 (GRCm39) |
P27S |
probably benign |
Het |
| C1ra |
A |
G |
6: 124,499,233 (GRCm39) |
N473S |
probably benign |
Het |
| C87436 |
T |
C |
6: 86,423,233 (GRCm39) |
L269P |
probably damaging |
Het |
| Calcrl |
A |
G |
2: 84,164,021 (GRCm39) |
V390A |
probably damaging |
Het |
| Ccp110 |
T |
G |
7: 118,314,751 (GRCm39) |
|
probably null |
Het |
| Cerk |
A |
G |
15: 86,033,601 (GRCm39) |
V274A |
probably damaging |
Het |
| Chd1l |
A |
T |
3: 97,488,307 (GRCm39) |
S570T |
probably benign |
Het |
| Chst14 |
T |
A |
2: 118,757,379 (GRCm39) |
W83R |
probably damaging |
Het |
| Chsy1 |
A |
T |
7: 65,821,262 (GRCm39) |
D499V |
probably benign |
Het |
| Ckmt1 |
C |
A |
2: 121,190,198 (GRCm39) |
|
probably null |
Het |
| Cnot1 |
A |
T |
8: 96,496,460 (GRCm39) |
V282D |
probably damaging |
Het |
| Cntn3 |
A |
T |
6: 102,218,974 (GRCm39) |
S549T |
possibly damaging |
Het |
| Cntnap5c |
A |
T |
17: 58,702,289 (GRCm39) |
D1203V |
probably benign |
Het |
| Col4a4 |
A |
G |
1: 82,513,491 (GRCm39) |
Y169H |
unknown |
Het |
| Cwc22 |
A |
G |
2: 77,745,874 (GRCm39) |
F454S |
possibly damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dhrs7 |
A |
T |
12: 72,699,089 (GRCm39) |
W298R |
possibly damaging |
Het |
| Dock7 |
G |
T |
4: 98,833,483 (GRCm39) |
T1906N |
probably damaging |
Het |
| Dpy19l3 |
T |
C |
7: 35,449,203 (GRCm39) |
T67A |
probably benign |
Het |
| Drc1 |
A |
G |
5: 30,521,301 (GRCm39) |
D654G |
possibly damaging |
Het |
| Ech1 |
A |
T |
7: 28,531,264 (GRCm39) |
H284L |
probably damaging |
Het |
| Epc1 |
G |
A |
18: 6,441,175 (GRCm39) |
Q8* |
probably null |
Het |
| Etv5 |
A |
T |
16: 22,254,664 (GRCm39) |
D65E |
probably damaging |
Het |
| F2rl3 |
A |
G |
8: 73,489,534 (GRCm39) |
R254G |
probably benign |
Het |
| Fabp5 |
T |
G |
3: 10,080,170 (GRCm39) |
F73L |
probably benign |
Het |
| Fbrs |
T |
C |
7: 127,086,483 (GRCm39) |
I611T |
probably damaging |
Het |
| Flnc |
T |
C |
6: 29,433,806 (GRCm39) |
S117P |
possibly damaging |
Het |
| Frmd4b |
A |
C |
6: 97,285,634 (GRCm39) |
S291A |
possibly damaging |
Het |
| Galnt13 |
A |
G |
2: 54,950,558 (GRCm39) |
Y413C |
probably damaging |
Het |
| Gfer |
A |
G |
17: 24,914,337 (GRCm39) |
Y109H |
possibly damaging |
Het |
| Gli2 |
T |
C |
1: 118,764,254 (GRCm39) |
H1299R |
possibly damaging |
Het |
| Gm10110 |
T |
C |
14: 90,135,679 (GRCm39) |
|
noncoding transcript |
Het |
| Gprc5a |
T |
G |
6: 135,055,652 (GRCm39) |
L33W |
probably damaging |
Het |
| Grin3a |
T |
C |
4: 49,844,721 (GRCm39) |
T121A |
probably benign |
Het |
| Grk3 |
A |
G |
5: 113,163,248 (GRCm39) |
V33A |
probably benign |
Het |
| Hc |
A |
T |
2: 34,947,336 (GRCm39) |
Y59* |
probably null |
Het |
| Hrnr |
A |
G |
3: 93,239,823 (GRCm39) |
I3354V |
unknown |
Het |
| Hyou1 |
C |
G |
9: 44,300,703 (GRCm39) |
T924S |
probably benign |
Het |
| Ifi209 |
T |
G |
1: 173,464,931 (GRCm39) |
H20Q |
probably damaging |
Het |
| Ifi44 |
A |
G |
3: 151,438,171 (GRCm39) |
V372A |
probably benign |
Het |
| Igdcc4 |
T |
A |
9: 65,030,077 (GRCm39) |
L328H |
probably damaging |
Het |
| Jkampl |
A |
G |
6: 73,445,869 (GRCm39) |
Y227H |
probably benign |
Het |
| Kif18a |
A |
G |
2: 109,120,161 (GRCm39) |
T155A |
probably benign |
Het |
| Kmt2d |
A |
G |
15: 98,742,938 (GRCm39) |
|
probably benign |
Het |
| Kri1 |
T |
C |
9: 21,191,753 (GRCm39) |
D281G |
possibly damaging |
Het |
| Larp1b |
T |
A |
3: 40,988,507 (GRCm39) |
M1K |
probably null |
Het |
| Loxhd1 |
A |
G |
18: 77,490,259 (GRCm39) |
D1225G |
probably damaging |
Het |
| Mzf1 |
A |
G |
7: 12,777,197 (GRCm39) |
*736Q |
probably null |
Het |
| Naip2 |
C |
T |
13: 100,298,489 (GRCm39) |
A516T |
possibly damaging |
Het |
| Ncf2 |
T |
A |
1: 152,683,784 (GRCm39) |
M1K |
probably null |
Het |
| Or5t15 |
T |
A |
2: 86,681,571 (GRCm39) |
H157L |
probably benign |
Het |
| Or8h10 |
A |
C |
2: 86,808,963 (GRCm39) |
M59R |
probably damaging |
Het |
| Parp12 |
T |
C |
6: 39,073,574 (GRCm39) |
D417G |
probably benign |
Het |
| Parp12 |
T |
C |
6: 39,088,612 (GRCm39) |
H208R |
probably damaging |
Het |
| Pcif1 |
T |
C |
2: 164,727,603 (GRCm39) |
I132T |
probably benign |
Het |
| Pck2 |
A |
G |
14: 55,786,041 (GRCm39) |
D610G |
possibly damaging |
Het |
| Plbd1 |
T |
C |
6: 136,617,123 (GRCm39) |
K185E |
probably benign |
Het |
| Ppp2r5a |
T |
C |
1: 191,086,126 (GRCm39) |
M425V |
probably damaging |
Het |
| Rapgef6 |
T |
A |
11: 54,548,231 (GRCm39) |
V805D |
probably damaging |
Het |
| Rprd2 |
C |
T |
3: 95,671,059 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,731,178 (GRCm39) |
S711P |
probably damaging |
Het |
| Slc17a3 |
T |
A |
13: 24,036,340 (GRCm39) |
L212* |
probably null |
Het |
| Slc4a8 |
A |
G |
15: 100,681,668 (GRCm39) |
D41G |
probably benign |
Het |
| Slc9a3 |
T |
A |
13: 74,306,937 (GRCm39) |
V354E |
probably damaging |
Het |
| Spen |
A |
G |
4: 141,196,254 (GRCm39) |
I3632T |
probably damaging |
Het |
| Tesc |
A |
G |
5: 118,192,914 (GRCm39) |
S77G |
probably benign |
Het |
| Tet3 |
A |
T |
6: 83,346,297 (GRCm39) |
V1245D |
probably benign |
Het |
| Tox4 |
T |
A |
14: 52,530,000 (GRCm39) |
D553E |
possibly damaging |
Het |
| Tpmt |
A |
T |
13: 47,180,759 (GRCm39) |
Y193* |
probably null |
Het |
| Trio |
T |
C |
15: 27,833,130 (GRCm39) |
Y1169C |
probably damaging |
Het |
| Urb1 |
G |
A |
16: 90,569,514 (GRCm39) |
T1404I |
probably benign |
Het |
| Usp47 |
T |
C |
7: 111,682,334 (GRCm39) |
S540P |
probably damaging |
Het |
| Vmn1r178 |
A |
T |
7: 23,593,548 (GRCm39) |
M126L |
possibly damaging |
Het |
| Vmn1r223 |
T |
C |
13: 23,434,348 (GRCm39) |
F314S |
probably damaging |
Het |
| Vmn2r112 |
A |
T |
17: 22,824,097 (GRCm39) |
I451L |
probably benign |
Het |
| Zfc3h1 |
A |
G |
10: 115,242,806 (GRCm39) |
|
probably null |
Het |
| Zfp503 |
A |
T |
14: 22,034,969 (GRCm39) |
L649Q |
probably damaging |
Het |
| Zfp977 |
A |
C |
7: 42,229,530 (GRCm39) |
C332G |
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 |
|
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 |
|
|
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'- AGGCCCTTAGTAGAGTTACCATGACATT -3'
(R):5'- GCATATCTCCATCTAAAGCAGCCACATT -3'
Sequencing Primer
(F):5'- CCATGACATTTTTGAAATGTGAAGGC -3'
(R):5'- GCAGCCACATTTTCTAAAACATAG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation