Incidental Mutation 'IGL00780:Pgghg'
| ID |
9120 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pgghg
|
| Ensembl Gene |
ENSMUSG00000062031 |
| Gene Name |
protein glucosylgalactosylhydroxylysine glucosidase |
| Synonyms |
5730511L01Rik, Athl1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.182)
|
| Stock # |
IGL00780
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
140521304-140527577 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 140525264 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128214
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026562]
[ENSMUST00000079403]
[ENSMUST00000163094]
[ENSMUST00000164580]
[ENSMUST00000211129]
|
| AlphaFold |
Q8BP56 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026562
|
| SMART Domains |
Protein: ENSMUSP00000026562
Gene: ENSMUSG00000025489
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD225
|
26 |
102 |
1.1e-28 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000079403
|
| SMART Domains |
Protein: ENSMUSP00000078372
Gene: ENSMUSG00000062031
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_hydro_65m
|
279 |
496 |
3.5e-49 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163094
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164337
|
| SMART Domains |
Protein: ENSMUSP00000127119
Gene: ENSMUSG00000062031
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_hydro_65m
|
219 |
464 |
3.8e-65 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000164580
|
| SMART Domains |
Protein: ENSMUSP00000128214
Gene: ENSMUSG00000062031
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_hydro_65m
|
279 |
496 |
3.6e-49 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168084
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169736
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211129
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
A |
G |
16: 56,423,168 (GRCm39) |
D440G |
probably null |
Het |
| Acvrl1 |
T |
A |
15: 101,035,248 (GRCm39) |
F258Y |
probably damaging |
Het |
| Ano1 |
A |
G |
7: 144,209,367 (GRCm39) |
S278P |
probably damaging |
Het |
| Aoc1l3 |
A |
G |
6: 48,964,673 (GRCm39) |
D227G |
probably damaging |
Het |
| AW146154 |
T |
C |
7: 41,129,883 (GRCm39) |
Y411C |
probably damaging |
Het |
| Blnk |
T |
A |
19: 40,922,890 (GRCm39) |
K412M |
probably benign |
Het |
| Clpb |
C |
T |
7: 101,427,815 (GRCm39) |
R387* |
probably null |
Het |
| Dach1 |
A |
T |
14: 98,138,858 (GRCm39) |
N528K |
possibly damaging |
Het |
| Dag1 |
A |
T |
9: 108,086,818 (GRCm39) |
W108R |
probably damaging |
Het |
| Elapor2 |
A |
G |
5: 9,472,367 (GRCm39) |
T355A |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,229,060 (GRCm39) |
T717A |
probably damaging |
Het |
| Fnbp1l |
T |
C |
3: 122,342,898 (GRCm39) |
D394G |
possibly damaging |
Het |
| Gaa |
T |
A |
11: 119,165,117 (GRCm39) |
|
probably null |
Het |
| Gpr158 |
A |
T |
2: 21,831,629 (GRCm39) |
K910* |
probably null |
Het |
| Grb14 |
G |
A |
2: 64,745,062 (GRCm39) |
P99S |
probably damaging |
Het |
| Gtf2h2 |
T |
C |
13: 100,615,729 (GRCm39) |
D264G |
probably benign |
Het |
| Heatr3 |
A |
G |
8: 88,897,568 (GRCm39) |
I667V |
probably benign |
Het |
| Hsp90ab1 |
T |
C |
17: 45,880,490 (GRCm39) |
N407S |
probably damaging |
Het |
| Htr2a |
A |
T |
14: 74,943,645 (GRCm39) |
L408F |
possibly damaging |
Het |
| Itgb5 |
G |
A |
16: 33,705,345 (GRCm39) |
V212I |
probably damaging |
Het |
| Kmt2c |
G |
A |
5: 25,516,049 (GRCm39) |
T2598I |
probably benign |
Het |
| Lcorl |
T |
C |
5: 45,904,637 (GRCm39) |
N137S |
probably damaging |
Het |
| Lef1 |
T |
C |
3: 130,986,779 (GRCm39) |
F212L |
possibly damaging |
Het |
| Map2k5 |
T |
C |
9: 63,188,359 (GRCm39) |
|
probably benign |
Het |
| Med15 |
G |
A |
16: 17,471,351 (GRCm39) |
T642I |
probably damaging |
Het |
| Nasp |
C |
A |
4: 116,461,196 (GRCm39) |
E274* |
probably null |
Het |
| Nup210l |
A |
T |
3: 90,098,156 (GRCm39) |
|
probably benign |
Het |
| Plpp1 |
A |
G |
13: 112,988,040 (GRCm39) |
I54M |
probably damaging |
Het |
| Poldip3 |
C |
T |
15: 83,022,680 (GRCm39) |
G35R |
probably damaging |
Het |
| Ppig |
A |
T |
2: 69,563,268 (GRCm39) |
E81D |
possibly damaging |
Het |
| Ptpn21 |
G |
T |
12: 98,646,630 (GRCm39) |
T999K |
probably damaging |
Het |
| Rad9b |
T |
C |
5: 122,482,310 (GRCm39) |
I142V |
probably benign |
Het |
| Ralgps1 |
A |
T |
2: 33,163,639 (GRCm39) |
H139Q |
probably damaging |
Het |
| Rdh16f2 |
T |
C |
10: 127,710,961 (GRCm39) |
|
probably null |
Het |
| Sema3d |
G |
A |
5: 12,574,293 (GRCm39) |
R265Q |
probably damaging |
Het |
| Tdp1 |
T |
C |
12: 99,859,907 (GRCm39) |
V198A |
possibly damaging |
Het |
| Trim43c |
A |
T |
9: 88,723,909 (GRCm39) |
D145V |
probably benign |
Het |
| Trpc4 |
C |
T |
3: 54,209,596 (GRCm39) |
P654S |
probably damaging |
Het |
| Yy1 |
T |
G |
12: 108,781,463 (GRCm39) |
I376S |
probably damaging |
Het |
| Zfp773 |
T |
A |
7: 7,136,113 (GRCm39) |
Q161L |
probably benign |
Het |
|
| Other mutations in Pgghg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00848:Pgghg
|
APN |
7 |
140,522,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01903:Pgghg
|
APN |
7 |
140,526,741 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02060:Pgghg
|
APN |
7 |
140,526,546 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02475:Pgghg
|
APN |
7 |
140,525,633 (GRCm39) |
missense |
|
|
|
IGL02519:Pgghg
|
APN |
7 |
140,524,894 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02612:Pgghg
|
APN |
7 |
140,526,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0689:Pgghg
|
UTSW |
7 |
140,523,191 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1696:Pgghg
|
UTSW |
7 |
140,525,224 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1960:Pgghg
|
UTSW |
7 |
140,523,260 (GRCm39) |
missense |
probably benign |
|
|
R2110:Pgghg
|
UTSW |
7 |
140,523,453 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R3809:Pgghg
|
UTSW |
7 |
140,525,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3890:Pgghg
|
UTSW |
7 |
140,525,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3891:Pgghg
|
UTSW |
7 |
140,525,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4622:Pgghg
|
UTSW |
7 |
140,521,409 (GRCm39) |
splice site |
probably null |
|
|
R5009:Pgghg
|
UTSW |
7 |
140,523,303 (GRCm39) |
missense |
probably benign |
|
|
R5058:Pgghg
|
UTSW |
7 |
140,522,455 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5215:Pgghg
|
UTSW |
7 |
140,526,477 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6122:Pgghg
|
UTSW |
7 |
140,523,308 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6269:Pgghg
|
UTSW |
7 |
140,526,097 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6301:Pgghg
|
UTSW |
7 |
140,526,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6562:Pgghg
|
UTSW |
7 |
140,526,506 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7054:Pgghg
|
UTSW |
7 |
140,524,631 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7241:Pgghg
|
UTSW |
7 |
140,525,633 (GRCm39) |
missense |
|
|
|
R7320:Pgghg
|
UTSW |
7 |
140,522,953 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7486:Pgghg
|
UTSW |
7 |
140,522,393 (GRCm39) |
missense |
probably benign |
|
|
R7665:Pgghg
|
UTSW |
7 |
140,525,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8859:Pgghg
|
UTSW |
7 |
140,525,367 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9018:Pgghg
|
UTSW |
7 |
140,524,579 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9647:Pgghg
|
UTSW |
7 |
140,526,743 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
| Posted On |
2012-12-06 |
Incidental Mutation