Incidental Mutation 'IGL02685:Gmppb'
| ID |
303543 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gmppb
|
| Ensembl Gene |
ENSMUSG00000070284 |
| Gene Name |
GDP-mannose pyrophosphorylase B |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.955)
|
| Stock # |
IGL02685
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
107926490-107929119 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 107927118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136953
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035214]
[ENSMUST00000047746]
[ENSMUST00000047947]
[ENSMUST00000085060]
[ENSMUST00000112295]
[ENSMUST00000162355]
[ENSMUST00000160649]
[ENSMUST00000177158]
[ENSMUST00000160249]
[ENSMUST00000176566]
[ENSMUST00000178267]
|
| AlphaFold |
Q8BTZ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035214
|
| SMART Domains |
Protein: ENSMUSP00000035214
Gene: ENSMUSG00000032594
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
114 |
129 |
N/A |
INTRINSIC |
|
Pfam:IPK
|
207 |
426 |
2.2e-67 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047746
|
| SMART Domains |
Protein: ENSMUSP00000040803
Gene: ENSMUSG00000041528
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
104 |
115 |
N/A |
INTRINSIC |
|
SPRY
|
132 |
253 |
1.52e-28 |
SMART |
|
low complexity region
|
471 |
488 |
N/A |
INTRINSIC |
|
low complexity region
|
508 |
518 |
N/A |
INTRINSIC |
|
coiled coil region
|
1047 |
1067 |
N/A |
INTRINSIC |
|
low complexity region
|
1242 |
1251 |
N/A |
INTRINSIC |
|
RING
|
1260 |
1297 |
5.27e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047947
|
| SMART Domains |
Protein: ENSMUSP00000036898
Gene: ENSMUSG00000070284
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTP_transferase
|
2 |
234 |
8e-48 |
PFAM |
|
Pfam:NTP_transf_3
|
3 |
202 |
6.6e-12 |
PFAM |
|
Pfam:Hexapep
|
259 |
294 |
1.8e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085060
|
| SMART Domains |
Protein: ENSMUSP00000082137
Gene: ENSMUSG00000032593
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
LRRNT
|
33 |
65 |
2.55e-2 |
SMART |
|
LRR
|
65 |
83 |
6.97e1 |
SMART |
|
LRR_TYP
|
84 |
107 |
1.56e-2 |
SMART |
|
LRR
|
109 |
131 |
2.84e1 |
SMART |
|
LRR
|
132 |
155 |
7.05e-1 |
SMART |
|
LRR
|
156 |
176 |
3.98e1 |
SMART |
|
LRR
|
182 |
206 |
5.56e0 |
SMART |
|
Blast:LRRCT
|
219 |
274 |
8e-23 |
BLAST |
|
IG
|
285 |
372 |
1.59e-6 |
SMART |
|
transmembrane domain
|
383 |
405 |
N/A |
INTRINSIC |
|
low complexity region
|
407 |
422 |
N/A |
INTRINSIC |
|
low complexity region
|
492 |
504 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112295
|
| SMART Domains |
Protein: ENSMUSP00000107914
Gene: ENSMUSG00000070284
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTP_transferase
|
2 |
235 |
2.1e-51 |
PFAM |
|
Pfam:NTP_transf_3
|
3 |
199 |
1.1e-11 |
PFAM |
|
Pfam:Hexapep
|
259 |
294 |
9.4e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137284
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145330
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159523
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159526
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176454
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173683
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161673
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150700
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167159
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162355
|
| SMART Domains |
Protein: ENSMUSP00000125745
Gene: ENSMUSG00000041528
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
104 |
115 |
N/A |
INTRINSIC |
|
SPRY
|
132 |
253 |
1.52e-28 |
SMART |
|
low complexity region
|
471 |
488 |
N/A |
INTRINSIC |
|
low complexity region
|
508 |
518 |
N/A |
INTRINSIC |
|
coiled coil region
|
1047 |
1067 |
N/A |
INTRINSIC |
|
low complexity region
|
1242 |
1251 |
N/A |
INTRINSIC |
|
RING
|
1260 |
1297 |
5.27e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160649
|
| SMART Domains |
Protein: ENSMUSP00000125495
Gene: ENSMUSG00000041528
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
104 |
115 |
N/A |
INTRINSIC |
|
SPRY
|
132 |
253 |
1.52e-28 |
SMART |
|
low complexity region
|
471 |
488 |
N/A |
INTRINSIC |
|
low complexity region
|
508 |
518 |
N/A |
INTRINSIC |
|
coiled coil region
|
1041 |
1061 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177158
|
| SMART Domains |
Protein: ENSMUSP00000134754
Gene: ENSMUSG00000032594
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
30 |
N/A |
INTRINSIC |
|
Pfam:IPK
|
108 |
206 |
1.5e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160249
|
| SMART Domains |
Protein: ENSMUSP00000124548
Gene: ENSMUSG00000041528
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
104 |
115 |
N/A |
INTRINSIC |
|
SPRY
|
132 |
253 |
1.52e-28 |
SMART |
|
low complexity region
|
471 |
488 |
N/A |
INTRINSIC |
|
low complexity region
|
508 |
518 |
N/A |
INTRINSIC |
|
coiled coil region
|
1041 |
1061 |
N/A |
INTRINSIC |
|
low complexity region
|
1236 |
1245 |
N/A |
INTRINSIC |
|
RING
|
1254 |
1291 |
5.27e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176613
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159306
|
| SMART Domains |
Protein: ENSMUSP00000125695
Gene: ENSMUSG00000041528
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
172 |
192 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176566
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177396
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178267
|
| SMART Domains |
Protein: ENSMUSP00000136953
Gene: ENSMUSG00000041528
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
104 |
115 |
N/A |
INTRINSIC |
|
SPRY
|
132 |
253 |
1.52e-28 |
SMART |
|
low complexity region
|
471 |
488 |
N/A |
INTRINSIC |
|
low complexity region
|
508 |
518 |
N/A |
INTRINSIC |
|
coiled coil region
|
1041 |
1061 |
N/A |
INTRINSIC |
|
low complexity region
|
1236 |
1245 |
N/A |
INTRINSIC |
|
RING
|
1254 |
1291 |
5.27e-4 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is thought to encode a GDP-mannose pyrophosphorylase. The encoded protein catalyzes the conversion of mannose-1-phosphate and GTP to GDP-mannose, a reaction involved in the production of N-linked oligosaccharides. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
C |
12: 118,869,682 (GRCm39) |
Y779C |
probably damaging |
Het |
| Acad10 |
A |
G |
5: 121,770,672 (GRCm39) |
F532L |
probably benign |
Het |
| Adgrb3 |
A |
T |
1: 25,123,323 (GRCm39) |
|
probably null |
Het |
| Akr1d1 |
T |
C |
6: 37,507,278 (GRCm39) |
|
probably benign |
Het |
| Aqp11 |
A |
G |
7: 97,386,759 (GRCm39) |
Y146H |
probably damaging |
Het |
| Cdh2 |
A |
T |
18: 16,779,557 (GRCm39) |
L168Q |
probably damaging |
Het |
| Ces2f |
C |
T |
8: 105,679,730 (GRCm39) |
Q277* |
probably null |
Het |
| Cmya5 |
G |
A |
13: 93,227,505 (GRCm39) |
Q2528* |
probably null |
Het |
| Col22a1 |
A |
G |
15: 71,673,764 (GRCm39) |
V984A |
unknown |
Het |
| Col5a3 |
T |
C |
9: 20,683,501 (GRCm39) |
D1557G |
unknown |
Het |
| Cpb1 |
A |
T |
3: 20,319,520 (GRCm39) |
V188E |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Ephb1 |
G |
T |
9: 101,918,302 (GRCm39) |
Y402* |
probably null |
Het |
| Foxm1 |
T |
C |
6: 128,350,070 (GRCm39) |
L319S |
possibly damaging |
Het |
| Grid2 |
T |
G |
6: 64,322,800 (GRCm39) |
M600R |
possibly damaging |
Het |
| Gstm6 |
T |
C |
3: 107,848,507 (GRCm39) |
K57E |
probably benign |
Het |
| Hars2 |
T |
G |
18: 36,924,171 (GRCm39) |
S422A |
probably benign |
Het |
| Igdcc4 |
T |
C |
9: 65,041,107 (GRCm39) |
M1092T |
possibly damaging |
Het |
| Ighv13-1 |
C |
A |
12: 114,231,403 (GRCm39) |
|
probably benign |
Het |
| Iqgap2 |
C |
A |
13: 95,807,912 (GRCm39) |
R785L |
probably damaging |
Het |
| Kalrn |
G |
A |
16: 34,334,329 (GRCm39) |
Q8* |
probably null |
Het |
| Mms22l |
A |
G |
4: 24,591,133 (GRCm39) |
T1035A |
probably benign |
Het |
| Myo1b |
A |
G |
1: 51,817,658 (GRCm39) |
Y535H |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,065,313 (GRCm39) |
K6234N |
possibly damaging |
Het |
| Nlrp9c |
A |
G |
7: 26,084,982 (GRCm39) |
I199T |
probably damaging |
Het |
| Or10ak7 |
A |
T |
4: 118,791,134 (GRCm39) |
F304I |
possibly damaging |
Het |
| Or4c108 |
T |
A |
2: 88,803,365 (GRCm39) |
N290I |
possibly damaging |
Het |
| Or52h9 |
C |
A |
7: 104,202,357 (GRCm39) |
T77K |
probably benign |
Het |
| Or7g32 |
T |
C |
9: 19,408,098 (GRCm39) |
I18T |
probably benign |
Het |
| Osmr |
T |
C |
15: 6,845,054 (GRCm39) |
E904G |
probably benign |
Het |
| Pde8b |
T |
C |
13: 95,162,628 (GRCm39) |
*831W |
probably null |
Het |
| Prkdc |
T |
C |
16: 15,653,907 (GRCm39) |
V3888A |
possibly damaging |
Het |
| Scn9a |
C |
A |
2: 66,367,637 (GRCm39) |
S693I |
probably damaging |
Het |
| Sepsecs |
T |
C |
5: 52,804,534 (GRCm39) |
T379A |
probably benign |
Het |
| Ska1 |
T |
A |
18: 74,330,119 (GRCm39) |
H207L |
probably benign |
Het |
| Slc17a9 |
C |
A |
2: 180,375,602 (GRCm39) |
Q175K |
probably damaging |
Het |
| Slc38a2 |
G |
A |
15: 96,589,306 (GRCm39) |
T396I |
probably benign |
Het |
| Slc9a4 |
A |
C |
1: 40,668,742 (GRCm39) |
H795P |
probably benign |
Het |
| Sorbs2 |
C |
T |
8: 46,256,877 (GRCm39) |
T955I |
probably benign |
Het |
| Spata4 |
A |
T |
8: 55,053,963 (GRCm39) |
H43L |
probably benign |
Het |
| Ss18l2 |
G |
A |
9: 121,539,484 (GRCm39) |
A6T |
possibly damaging |
Het |
| Sult1e1 |
C |
T |
5: 87,727,765 (GRCm39) |
W172* |
probably null |
Het |
| Tlcd1 |
T |
C |
11: 78,070,363 (GRCm39) |
|
probably benign |
Het |
| Tmc8 |
T |
C |
11: 117,683,400 (GRCm39) |
S652P |
probably damaging |
Het |
| Vps37b |
T |
C |
5: 124,148,874 (GRCm39) |
S54G |
probably damaging |
Het |
| Wdr26 |
A |
T |
1: 181,011,345 (GRCm39) |
S511T |
possibly damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,477,213 (GRCm39) |
Y3251C |
probably damaging |
Het |
|
| Other mutations in Gmppb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01369:Gmppb
|
APN |
9 |
107,928,446 (GRCm39) |
splice site |
probably null |
|
|
R0308:Gmppb
|
UTSW |
9 |
107,927,033 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0553:Gmppb
|
UTSW |
9 |
107,926,996 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3804:Gmppb
|
UTSW |
9 |
107,927,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3973:Gmppb
|
UTSW |
9 |
107,927,338 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4801:Gmppb
|
UTSW |
9 |
107,927,416 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4802:Gmppb
|
UTSW |
9 |
107,927,416 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5424:Gmppb
|
UTSW |
9 |
107,929,204 (GRCm39) |
splice site |
probably null |
|
|
R7809:Gmppb
|
UTSW |
9 |
107,928,654 (GRCm39) |
makesense |
probably null |
|
|
R7895:Gmppb
|
UTSW |
9 |
107,927,770 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9668:Gmppb
|
UTSW |
9 |
107,928,362 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2015-04-16 |
Incidental Mutation