Incidental Mutation 'IGL01903:Pgghg'
| ID |
179583 |
| 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: 0.164)
|
| Stock # |
IGL01903
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
140521304-140527577 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 140526741 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 686
(Q686R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078372
(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 benign
Transcript: ENSMUST00000079403
AA Change: Q686R
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000078372
Gene: ENSMUSG00000062031
AA Change: Q686R
| 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 |
silent
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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
A |
3: 121,949,050 (GRCm39) |
|
probably benign |
Het |
| Adad1 |
T |
A |
3: 37,139,231 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
T |
A |
18: 22,567,633 (GRCm39) |
D70E |
probably benign |
Het |
| Atat1 |
T |
A |
17: 36,208,692 (GRCm39) |
I380L |
probably benign |
Het |
| Ccnj |
A |
G |
19: 40,834,454 (GRCm39) |
E351G |
probably damaging |
Het |
| Clca4b |
A |
T |
3: 144,634,020 (GRCm39) |
Y132N |
probably damaging |
Het |
| Cttnbp2 |
A |
C |
6: 18,501,964 (GRCm39) |
V16G |
probably damaging |
Het |
| Gcdh |
A |
T |
8: 85,615,233 (GRCm39) |
L389Q |
probably damaging |
Het |
| Ggta1 |
A |
T |
2: 35,292,569 (GRCm39) |
F258Y |
possibly damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm3696 |
T |
A |
14: 18,434,983 (GRCm39) |
|
probably benign |
Het |
| Gramd2b |
A |
T |
18: 56,607,101 (GRCm39) |
S72C |
probably damaging |
Het |
| Hal |
G |
A |
10: 93,336,469 (GRCm39) |
|
probably benign |
Het |
| Haus4 |
A |
T |
14: 54,779,886 (GRCm39) |
S288T |
possibly damaging |
Het |
| Herc1 |
A |
T |
9: 66,294,154 (GRCm39) |
K499* |
probably null |
Het |
| Hyou1 |
C |
T |
9: 44,292,438 (GRCm39) |
|
probably benign |
Het |
| Kng2 |
C |
T |
16: 22,806,540 (GRCm39) |
R553Q |
possibly damaging |
Het |
| Leng9 |
G |
A |
7: 4,151,746 (GRCm39) |
A310V |
probably damaging |
Het |
| Magi3 |
G |
T |
3: 103,958,526 (GRCm39) |
Q520K |
possibly damaging |
Het |
| Mark1 |
A |
G |
1: 184,661,577 (GRCm39) |
|
probably benign |
Het |
| Mybl1 |
T |
A |
1: 9,741,801 (GRCm39) |
|
probably null |
Het |
| Ncapd2 |
A |
G |
6: 125,154,423 (GRCm39) |
S598P |
probably benign |
Het |
| Or14j5 |
T |
C |
17: 37,920,758 (GRCm39) |
I295V |
possibly damaging |
Het |
| Or4k47 |
T |
C |
2: 111,452,003 (GRCm39) |
K139E |
probably benign |
Het |
| Or5a3 |
G |
A |
19: 12,400,047 (GRCm39) |
V125I |
probably benign |
Het |
| Or5aq1 |
A |
C |
2: 86,965,723 (GRCm39) |
|
probably null |
Het |
| Otud6b |
C |
T |
4: 14,818,458 (GRCm39) |
E148K |
probably benign |
Het |
| Pkhd1 |
C |
A |
1: 20,268,361 (GRCm39) |
C3339F |
probably damaging |
Het |
| Pla2g4a |
T |
C |
1: 149,716,370 (GRCm39) |
D697G |
possibly damaging |
Het |
| Serping1 |
A |
T |
2: 84,600,116 (GRCm39) |
|
probably null |
Het |
| Sfxn4 |
T |
C |
19: 60,847,118 (GRCm39) |
Y55C |
probably damaging |
Het |
| Sh3bp5l |
A |
G |
11: 58,236,864 (GRCm39) |
R274G |
probably damaging |
Het |
| Snx13 |
A |
G |
12: 35,135,968 (GRCm39) |
T88A |
probably benign |
Het |
| Spz1 |
G |
T |
13: 92,711,407 (GRCm39) |
N356K |
probably damaging |
Het |
| Taf2 |
A |
T |
15: 54,923,412 (GRCm39) |
F288L |
probably benign |
Het |
| Tti1 |
T |
C |
2: 157,842,542 (GRCm39) |
E829G |
probably benign |
Het |
| Ube2z |
T |
C |
11: 95,955,826 (GRCm39) |
D92G |
possibly damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r7 |
A |
G |
3: 64,626,864 (GRCm39) |
Y142H |
probably benign |
Het |
| Zfp397 |
T |
A |
18: 24,093,086 (GRCm39) |
N190K |
probably benign |
Het |
|
| Other mutations in Pgghg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00780:Pgghg
|
APN |
7 |
140,525,264 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00848:Pgghg
|
APN |
7 |
140,522,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-05-07 |
Incidental Mutation