Incidental Mutation 'R5224:Ganab'
| ID |
402528 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ganab
|
| Ensembl Gene |
ENSMUSG00000071650 |
| Gene Name |
alpha glucosidase 2 alpha neutral subunit |
| Synonyms |
G2an, GluII |
| MMRRC Submission |
042797-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.920)
|
| Stock # |
R5224 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
8875435-8894036 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 8887955 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 396
(D396E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093965
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096246]
|
| AlphaFold |
Q8BHN3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096246
AA Change: D396E
PolyPhen 2
Score 0.354 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000093965
Gene: ENSMUSG00000071650
AA Change: D396E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
157 |
169 |
N/A |
INTRINSIC |
|
Pfam:Gal_mutarotas_2
|
275 |
346 |
3.9e-24 |
PFAM |
|
Pfam:Glyco_hydro_31
|
387 |
832 |
8.7e-136 |
PFAM |
|
low complexity region
|
888 |
898 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2309 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
98% (58/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha subunit of glucosidase II and a member of the glycosyl hydrolase 31 family of proteins. The heterodimeric enzyme glucosidase II plays a role in protein folding and quality control by cleaving glucose residues from immature glycoproteins in the endoplasmic reticulum. Expression of the encoded protein is elevated in lung tumor tissue and in response to UV irradiation. Mutations in this gene cause autosomal-dominant polycystic kidney and liver disease. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
CGTGACCTTTCTGGT |
CGT |
10: 85,481,386 (GRCm39) |
|
probably benign |
Het |
| Ahi1 |
A |
G |
10: 20,862,921 (GRCm39) |
S699G |
probably damaging |
Het |
| Atp10d |
C |
T |
5: 72,426,669 (GRCm39) |
A959V |
probably benign |
Het |
| Axl |
T |
C |
7: 25,486,369 (GRCm39) |
M112V |
probably benign |
Het |
| Brd10 |
A |
T |
19: 29,696,450 (GRCm39) |
S1014R |
possibly damaging |
Het |
| Camk1g |
A |
T |
1: 193,037,342 (GRCm39) |
D119E |
probably damaging |
Het |
| Capn8 |
A |
C |
1: 182,424,554 (GRCm39) |
N117T |
probably damaging |
Het |
| Cct3 |
G |
A |
3: 88,204,532 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,752,080 (GRCm39) |
T1293A |
possibly damaging |
Het |
| Depdc1b |
A |
G |
13: 108,521,354 (GRCm39) |
D387G |
probably damaging |
Het |
| Dtx3l |
A |
G |
16: 35,759,163 (GRCm39) |
Y29H |
possibly damaging |
Het |
| Erp44 |
A |
T |
4: 48,279,435 (GRCm39) |
N2K |
probably benign |
Het |
| Fmn1 |
A |
G |
2: 113,195,470 (GRCm39) |
E390G |
unknown |
Het |
| Gatd3a |
A |
G |
10: 77,999,367 (GRCm39) |
V148A |
probably damaging |
Het |
| Gcc2 |
T |
A |
10: 58,121,982 (GRCm39) |
S1140T |
probably damaging |
Het |
| Gm7008 |
T |
C |
12: 40,273,342 (GRCm39) |
|
probably benign |
Het |
| Gphn |
T |
A |
12: 78,637,361 (GRCm39) |
F354I |
probably damaging |
Het |
| H2-T7 |
G |
A |
17: 36,454,231 (GRCm39) |
|
noncoding transcript |
Het |
| Hnrnpul1 |
G |
A |
7: 25,444,600 (GRCm39) |
T236M |
probably damaging |
Het |
| Itpr2 |
T |
A |
6: 146,068,149 (GRCm39) |
M2410L |
probably benign |
Het |
| Jaml |
T |
A |
9: 45,015,564 (GRCm39) |
M356K |
probably damaging |
Het |
| Kbtbd12 |
T |
A |
6: 88,594,681 (GRCm39) |
|
probably benign |
Het |
| Ldlrad3 |
G |
T |
2: 101,943,954 (GRCm39) |
N39K |
probably damaging |
Het |
| Lrp1b |
G |
A |
2: 41,000,852 (GRCm39) |
T2238I |
possibly damaging |
Het |
| Lypd8 |
T |
A |
11: 58,277,634 (GRCm39) |
C139S |
possibly damaging |
Het |
| Masp1 |
G |
T |
16: 23,313,445 (GRCm39) |
H163Q |
probably damaging |
Het |
| Mpo |
T |
C |
11: 87,687,283 (GRCm39) |
|
probably benign |
Het |
| Muc19 |
A |
T |
15: 91,825,910 (GRCm39) |
|
noncoding transcript |
Het |
| Muc5ac |
T |
A |
7: 141,347,708 (GRCm39) |
S438T |
probably benign |
Het |
| Nav2 |
T |
C |
7: 49,201,473 (GRCm39) |
V160A |
probably benign |
Het |
| Nlrc5 |
G |
T |
8: 95,220,944 (GRCm39) |
A1128S |
probably benign |
Het |
| Nlrp5 |
T |
A |
7: 23,117,401 (GRCm39) |
L375Q |
probably damaging |
Het |
| Nlrp9a |
A |
G |
7: 26,256,717 (GRCm39) |
T112A |
probably benign |
Het |
| Nppa |
T |
C |
4: 148,085,773 (GRCm39) |
S127P |
probably damaging |
Het |
| Or8k24 |
A |
G |
2: 86,216,193 (GRCm39) |
S190P |
possibly damaging |
Het |
| Osbpl1a |
T |
C |
18: 13,066,753 (GRCm39) |
N2S |
probably benign |
Het |
| Otoa |
A |
G |
7: 120,739,016 (GRCm39) |
T742A |
probably damaging |
Het |
| Pcdh10 |
A |
G |
3: 45,347,249 (GRCm39) |
R1015G |
probably damaging |
Het |
| Pdzrn3 |
C |
T |
6: 101,130,272 (GRCm39) |
D515N |
probably damaging |
Het |
| Plpp1 |
T |
A |
13: 112,988,046 (GRCm39) |
Y56* |
probably null |
Het |
| Ppp1r12a |
A |
G |
10: 108,096,886 (GRCm39) |
T236A |
probably benign |
Het |
| Rhag |
T |
C |
17: 41,139,395 (GRCm39) |
L110P |
probably damaging |
Het |
| Scn11a |
T |
A |
9: 119,583,858 (GRCm39) |
N1586Y |
probably damaging |
Het |
| Sgms2 |
T |
A |
3: 131,135,766 (GRCm39) |
K36I |
probably damaging |
Het |
| Slc22a2 |
A |
G |
17: 12,805,719 (GRCm39) |
N157D |
probably damaging |
Het |
| Stx19 |
T |
G |
16: 62,642,937 (GRCm39) |
M251R |
probably benign |
Het |
| Suco |
A |
G |
1: 161,662,274 (GRCm39) |
I719T |
probably benign |
Het |
| Tnr |
A |
G |
1: 159,750,885 (GRCm39) |
D1282G |
probably damaging |
Het |
| Tram1 |
T |
C |
1: 13,648,349 (GRCm39) |
R154G |
probably benign |
Het |
| Ubtfl1 |
G |
T |
9: 18,321,326 (GRCm39) |
V285L |
probably benign |
Het |
| Ugt2b38 |
A |
G |
5: 87,571,601 (GRCm39) |
S144P |
probably benign |
Het |
| Washc2 |
T |
G |
6: 116,185,965 (GRCm39) |
*58G |
probably null |
Het |
| Zfp354a |
T |
A |
11: 50,960,876 (GRCm39) |
S362R |
probably damaging |
Het |
|
| Other mutations in Ganab |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00158:Ganab
|
APN |
19 |
8,879,959 (GRCm39) |
missense |
probably benign |
|
|
IGL00434:Ganab
|
APN |
19 |
8,884,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01415:Ganab
|
APN |
19 |
8,892,058 (GRCm39) |
splice site |
probably benign |
|
|
IGL02418:Ganab
|
APN |
19 |
8,888,433 (GRCm39) |
missense |
probably null |
0.97 |
|
IGL02886:Ganab
|
APN |
19 |
8,888,391 (GRCm39) |
splice site |
probably benign |
|
|
IGL02997:Ganab
|
APN |
19 |
8,892,776 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03108:Ganab
|
APN |
19 |
8,889,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0240:Ganab
|
UTSW |
19 |
8,890,177 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0240:Ganab
|
UTSW |
19 |
8,890,177 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0349:Ganab
|
UTSW |
19 |
8,889,016 (GRCm39) |
missense |
probably null |
0.11 |
|
R0457:Ganab
|
UTSW |
19 |
8,884,614 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0551:Ganab
|
UTSW |
19 |
8,884,644 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0645:Ganab
|
UTSW |
19 |
8,888,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0652:Ganab
|
UTSW |
19 |
8,892,766 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0688:Ganab
|
UTSW |
19 |
8,888,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0726:Ganab
|
UTSW |
19 |
8,888,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1427:Ganab
|
UTSW |
19 |
8,893,030 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1946:Ganab
|
UTSW |
19 |
8,888,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1955:Ganab
|
UTSW |
19 |
8,888,980 (GRCm39) |
nonsense |
probably null |
|
|
R2173:Ganab
|
UTSW |
19 |
8,879,624 (GRCm39) |
unclassified |
probably benign |
|
|
R2280:Ganab
|
UTSW |
19 |
8,886,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2281:Ganab
|
UTSW |
19 |
8,886,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4897:Ganab
|
UTSW |
19 |
8,892,355 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5269:Ganab
|
UTSW |
19 |
8,889,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5323:Ganab
|
UTSW |
19 |
8,886,049 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5850:Ganab
|
UTSW |
19 |
8,889,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6469:Ganab
|
UTSW |
19 |
8,879,996 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6911:Ganab
|
UTSW |
19 |
8,885,152 (GRCm39) |
splice site |
probably null |
|
|
R7284:Ganab
|
UTSW |
19 |
8,889,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7412:Ganab
|
UTSW |
19 |
8,889,892 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7413:Ganab
|
UTSW |
19 |
8,882,339 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7466:Ganab
|
UTSW |
19 |
8,891,933 (GRCm39) |
nonsense |
probably null |
|
|
R7586:Ganab
|
UTSW |
19 |
8,888,716 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7657:Ganab
|
UTSW |
19 |
8,884,721 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7671:Ganab
|
UTSW |
19 |
8,890,216 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7729:Ganab
|
UTSW |
19 |
8,892,076 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8223:Ganab
|
UTSW |
19 |
8,888,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8873:Ganab
|
UTSW |
19 |
8,888,243 (GRCm39) |
nonsense |
probably null |
|
|
R9264:Ganab
|
UTSW |
19 |
8,890,228 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9388:Ganab
|
UTSW |
19 |
8,892,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9447:Ganab
|
UTSW |
19 |
8,886,894 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9450:Ganab
|
UTSW |
19 |
8,893,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTGGCACTGAAAAGCTGAC -3'
(R):5'- ATGACATCACAAGGCATGTTG -3'
Sequencing Primer
(F):5'- GCACTGAAAAGCTGACTTCCCTTTG -3'
(R):5'- GTTGTGATCATCAAAACCCTGATCC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation