Incidental Mutation 'IGL02475:Pgghg'
| ID |
294899 |
| 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 # |
IGL02475
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
140521304-140527577 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 140525633 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 479
(S479P)
|
| 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 benign
Transcript: ENSMUST00000079403
AA Change: S479P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000078372
Gene: ENSMUSG00000062031
AA Change: S479P
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000128214
Gene: ENSMUSG00000062031
AA Change: S479P
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
A |
T |
5: 146,119,343 (GRCm39) |
|
probably benign |
Het |
| 5730409E04Rik |
A |
G |
4: 126,505,742 (GRCm39) |
E90G |
probably damaging |
Het |
| Abhd6 |
T |
A |
14: 8,039,849 (GRCm38) |
I27N |
probably damaging |
Het |
| Akap6 |
A |
T |
12: 53,186,277 (GRCm39) |
E1230D |
probably benign |
Het |
| Bcl2l12 |
A |
G |
7: 44,646,317 (GRCm39) |
V31A |
possibly damaging |
Het |
| Cep350 |
G |
A |
1: 155,738,341 (GRCm39) |
R2501W |
probably damaging |
Het |
| Cnga3 |
A |
G |
1: 37,297,072 (GRCm39) |
|
probably null |
Het |
| Crcp |
T |
C |
5: 130,088,699 (GRCm39) |
|
probably benign |
Het |
| Creb5 |
G |
A |
6: 53,670,909 (GRCm39) |
S304N |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,219,296 (GRCm39) |
D38G |
probably benign |
Het |
| Fam171a1 |
A |
G |
2: 3,224,527 (GRCm39) |
I293V |
possibly damaging |
Het |
| Fbxw10 |
T |
C |
11: 62,748,561 (GRCm39) |
V396A |
possibly damaging |
Het |
| Gm10340 |
G |
A |
14: 14,832,274 (GRCm39) |
|
probably benign |
Het |
| Grik3 |
A |
G |
4: 125,544,310 (GRCm39) |
T344A |
probably benign |
Het |
| Itga7 |
T |
C |
10: 128,769,958 (GRCm39) |
F34S |
probably damaging |
Het |
| Musk |
T |
C |
4: 58,353,936 (GRCm39) |
|
probably benign |
Het |
| Neb |
G |
T |
2: 52,182,831 (GRCm39) |
N1038K |
probably damaging |
Het |
| Nf1 |
T |
C |
11: 79,426,493 (GRCm39) |
Y1636H |
probably damaging |
Het |
| Ngef |
G |
T |
1: 87,406,872 (GRCm39) |
T632K |
possibly damaging |
Het |
| Nme1nme2 |
A |
G |
11: 93,846,400 (GRCm39) |
V16A |
probably damaging |
Het |
| Nts |
A |
G |
10: 102,326,108 (GRCm39) |
|
probably benign |
Het |
| Olfml2b |
A |
G |
1: 170,509,743 (GRCm39) |
D697G |
probably damaging |
Het |
| Or5ac23 |
A |
T |
16: 59,149,088 (GRCm39) |
H261Q |
probably benign |
Het |
| Or5m8 |
T |
C |
2: 85,822,376 (GRCm39) |
F72L |
probably benign |
Het |
| Or9i1 |
T |
A |
19: 13,839,663 (GRCm39) |
C169S |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,534,026 (GRCm39) |
R1428G |
probably damaging |
Het |
| Rnaseh2b |
T |
A |
14: 62,584,064 (GRCm39) |
F37I |
probably damaging |
Het |
| Rtn4 |
T |
A |
11: 29,683,801 (GRCm39) |
I1031N |
probably damaging |
Het |
| Rxfp2 |
A |
G |
5: 149,987,151 (GRCm39) |
E344G |
probably benign |
Het |
| Scel |
A |
G |
14: 103,774,444 (GRCm39) |
R89G |
possibly damaging |
Het |
| Sirt4 |
T |
C |
5: 115,621,055 (GRCm39) |
E39G |
probably benign |
Het |
| Slc6a12 |
T |
A |
6: 121,331,334 (GRCm39) |
|
probably null |
Het |
| Snapc3 |
C |
A |
4: 83,368,333 (GRCm39) |
H277N |
probably benign |
Het |
| Susd2 |
A |
G |
10: 75,473,333 (GRCm39) |
|
probably null |
Het |
| Tagap1 |
T |
C |
17: 7,223,826 (GRCm39) |
Q290R |
probably benign |
Het |
| Tenm3 |
A |
T |
8: 48,732,233 (GRCm39) |
|
probably benign |
Het |
| Tmem54 |
A |
T |
4: 129,002,073 (GRCm39) |
H40L |
probably damaging |
Het |
| Tnks1bp1 |
T |
C |
2: 84,889,721 (GRCm39) |
S683P |
probably damaging |
Het |
| Tnpo2 |
A |
G |
8: 85,777,131 (GRCm39) |
D547G |
probably benign |
Het |
| Tpd52l2 |
G |
A |
2: 181,141,667 (GRCm39) |
V17M |
probably benign |
Het |
| Trip11 |
T |
A |
12: 101,861,942 (GRCm39) |
T208S |
probably benign |
Het |
| Ttc17 |
C |
A |
2: 94,194,721 (GRCm39) |
D551Y |
probably damaging |
Het |
| Ttll12 |
A |
T |
15: 83,471,302 (GRCm39) |
W222R |
probably damaging |
Het |
| Xkr8 |
A |
T |
4: 132,455,512 (GRCm39) |
I287N |
probably damaging |
Het |
| Zdhhc2 |
G |
T |
8: 40,926,066 (GRCm39) |
G354C |
probably null |
Het |
| Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation