Incidental Mutation 'R5399:Agl'
| ID |
429841 |
| 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 |
042970-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.360)
|
| Stock # |
R5399 (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 116575277 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 620
(L620Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124149
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040603]
[ENSMUST00000159742]
[ENSMUST00000161336]
[ENSMUST00000162792]
|
| AlphaFold |
F8VPN4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040603
AA Change: L620Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000044012
Gene: ENSMUSG00000033400
AA Change: L620Q
| 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 damaging
Transcript: ENSMUST00000159742
AA Change: L620Q
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000143582
Gene: ENSMUSG00000033400
AA Change: L620Q
| 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: ENSMUST00000159995
AA Change: L41Q
|
| SMART Domains |
Protein: ENSMUSP00000125246
Gene: ENSMUSG00000033400
AA Change: L41Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:hGDE_central
|
119 |
197 |
8.8e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160484
|
| SMART Domains |
Protein: ENSMUSP00000123985
Gene: ENSMUSG00000033400
| 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 damaging
Transcript: ENSMUST00000162792
AA Change: L620Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124149
Gene: ENSMUSG00000033400
AA Change: L620Q
| 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: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6820408C15Rik |
G |
T |
2: 152,282,788 (GRCm39) |
L214F |
probably damaging |
Het |
| Abcb1b |
T |
C |
5: 8,877,410 (GRCm39) |
S657P |
probably benign |
Het |
| Abcb5 |
T |
A |
12: 118,875,234 (GRCm39) |
Y646F |
probably benign |
Het |
| Anapc15 |
C |
T |
7: 101,547,810 (GRCm39) |
P68L |
probably damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,391,743 (GRCm39) |
N1420S |
probably damaging |
Het |
| Barx2 |
A |
G |
9: 31,765,407 (GRCm39) |
|
probably null |
Het |
| Birc6 |
C |
A |
17: 74,911,573 (GRCm39) |
S28R |
possibly damaging |
Het |
| Bmal2 |
T |
G |
6: 146,724,159 (GRCm39) |
D350E |
probably damaging |
Het |
| Btbd19 |
G |
A |
4: 116,980,957 (GRCm39) |
A104V |
probably damaging |
Het |
| Casp4 |
A |
T |
9: 5,324,928 (GRCm39) |
K247* |
probably null |
Het |
| Ccdc196 |
A |
C |
12: 78,244,227 (GRCm39) |
N60T |
probably damaging |
Het |
| Clk4 |
T |
C |
11: 51,166,084 (GRCm39) |
Y17H |
probably damaging |
Het |
| Cntnap1 |
A |
G |
11: 101,074,142 (GRCm39) |
Q722R |
probably benign |
Het |
| Col6a6 |
A |
G |
9: 105,586,306 (GRCm39) |
V1905A |
possibly damaging |
Het |
| Csmd1 |
C |
A |
8: 16,760,613 (GRCm39) |
G174V |
probably damaging |
Het |
| Cul1 |
T |
A |
6: 47,462,018 (GRCm39) |
|
probably null |
Het |
| Cux1 |
T |
C |
5: 136,281,458 (GRCm39) |
E568G |
possibly damaging |
Het |
| Dnaaf2 |
A |
G |
12: 69,243,516 (GRCm39) |
I515T |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,174,253 (GRCm39) |
I1868V |
possibly damaging |
Het |
| Fcgbp |
G |
T |
7: 27,804,480 (GRCm39) |
V1863L |
probably benign |
Het |
| G2e3 |
T |
C |
12: 51,403,977 (GRCm39) |
|
probably null |
Het |
| Gabrr2 |
T |
C |
4: 33,071,458 (GRCm39) |
|
probably null |
Het |
| Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
| Gbgt1 |
C |
T |
2: 28,393,230 (GRCm39) |
P106L |
probably damaging |
Het |
| Golga3 |
A |
G |
5: 110,352,890 (GRCm39) |
E927G |
probably damaging |
Het |
| Hfm1 |
T |
A |
5: 107,065,428 (GRCm39) |
I84F |
possibly damaging |
Het |
| Htt |
G |
T |
5: 35,034,495 (GRCm39) |
D1989Y |
probably damaging |
Het |
| Ihh |
C |
T |
1: 74,985,436 (GRCm39) |
A350T |
probably benign |
Het |
| Irx4 |
G |
C |
13: 73,413,658 (GRCm39) |
A43P |
probably benign |
Het |
| Itk |
A |
G |
11: 46,228,938 (GRCm39) |
V414A |
probably benign |
Het |
| Itsn2 |
A |
T |
12: 4,703,535 (GRCm39) |
I744L |
probably benign |
Het |
| Kdm5b |
G |
A |
1: 134,549,836 (GRCm39) |
|
probably null |
Het |
| Kif14 |
A |
G |
1: 136,431,062 (GRCm39) |
D1153G |
probably benign |
Het |
| Morc3 |
A |
G |
16: 93,659,427 (GRCm39) |
|
probably null |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Msc |
A |
T |
1: 14,825,780 (GRCm39) |
C65S |
probably benign |
Het |
| Mybpc1 |
A |
G |
10: 88,358,876 (GRCm39) |
V343A |
probably damaging |
Het |
| Myo5c |
T |
C |
9: 75,195,356 (GRCm39) |
I1218T |
possibly damaging |
Het |
| Mypn |
C |
T |
10: 62,955,965 (GRCm39) |
V1163I |
probably benign |
Het |
| Obox3 |
A |
T |
7: 15,360,213 (GRCm39) |
M152K |
probably benign |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or2t47 |
A |
G |
11: 58,442,969 (GRCm39) |
V32A |
probably benign |
Het |
| Or4c106 |
T |
A |
2: 88,682,999 (GRCm39) |
L235H |
probably damaging |
Het |
| Or4c3 |
T |
A |
2: 89,852,267 (GRCm39) |
T48S |
probably benign |
Het |
| Pcdhb21 |
G |
T |
18: 37,648,772 (GRCm39) |
V634L |
probably benign |
Het |
| Ppp1r9b |
G |
A |
11: 94,882,974 (GRCm39) |
A201T |
probably benign |
Het |
| Pramel25 |
T |
C |
4: 143,521,602 (GRCm39) |
F406S |
probably benign |
Het |
| Prss23 |
A |
T |
7: 89,159,174 (GRCm39) |
D298E |
probably benign |
Het |
| Rab4b |
A |
T |
7: 26,875,587 (GRCm39) |
N31K |
probably benign |
Het |
| Ros1 |
A |
G |
10: 51,967,040 (GRCm39) |
|
probably null |
Het |
| Rragb |
G |
A |
X: 151,923,550 (GRCm39) |
G24E |
probably damaging |
Het |
| Rtl1 |
A |
T |
12: 109,556,736 (GRCm39) |
L1701Q |
probably damaging |
Het |
| Sbno1 |
T |
A |
5: 124,530,804 (GRCm39) |
N831Y |
probably benign |
Het |
| Selp |
A |
G |
1: 163,954,155 (GRCm39) |
K152E |
possibly damaging |
Het |
| Sema4b |
A |
G |
7: 79,874,634 (GRCm39) |
T675A |
probably benign |
Het |
| Slc36a3 |
T |
C |
11: 55,037,006 (GRCm39) |
I100V |
possibly damaging |
Het |
| Slco1a4 |
T |
A |
6: 141,776,433 (GRCm39) |
I196F |
probably damaging |
Het |
| Spata13 |
G |
A |
14: 60,984,990 (GRCm39) |
S828N |
probably benign |
Het |
| Stard13 |
A |
T |
5: 150,971,266 (GRCm39) |
Y643* |
probably null |
Het |
| Tll1 |
T |
C |
8: 64,538,522 (GRCm39) |
H374R |
probably damaging |
Het |
| Trmt10a |
T |
A |
3: 137,853,265 (GRCm39) |
I42K |
probably damaging |
Het |
| Trmu |
A |
T |
15: 85,780,609 (GRCm39) |
|
probably null |
Het |
| Trp53 |
T |
A |
11: 69,479,372 (GRCm39) |
D183E |
probably benign |
Het |
| Ttc22 |
T |
G |
4: 106,493,954 (GRCm39) |
F305V |
probably damaging |
Het |
| Unc13c |
A |
G |
9: 73,656,970 (GRCm39) |
F1077S |
possibly damaging |
Het |
| Utrn |
T |
A |
10: 12,516,727 (GRCm39) |
Q2289L |
probably damaging |
Het |
| Vmn1r65 |
C |
A |
7: 6,011,809 (GRCm39) |
E142* |
probably null |
Het |
| Vmn2r63 |
A |
T |
7: 42,577,701 (GRCm39) |
V279D |
probably benign |
Het |
| Zfp810 |
G |
A |
9: 22,190,125 (GRCm39) |
T261I |
possibly damaging |
Het |
| Zkscan17 |
A |
G |
11: 59,393,744 (GRCm39) |
|
probably null |
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 |
|
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'- CAAAAGACCCTGTACAGATGCG -3'
(R):5'- ATACGCGTTGAGTGTCAGTG -3'
Sequencing Primer
(F):5'- CAGATGCGTTCTGTAAGGT -3'
(R):5'- TGTCAGTGATGATAGGAACTGTAACC -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation