Incidental Mutation 'IGL01369:Gmppb'
ID |
76077 |
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 # |
IGL01369
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
107926490-107929119 bp(+) (GRCm39) |
Type of Mutation |
splice site (5 bp from exon) |
DNA Base Change (assembly) |
G to A
at 107928446 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107914
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035214]
[ENSMUST00000047746]
[ENSMUST00000047947]
[ENSMUST00000085060]
[ENSMUST00000112295]
[ENSMUST00000160249]
[ENSMUST00000162355]
[ENSMUST00000160649]
[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 null
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 null
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: ENSMUST00000150700
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161673
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162123
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173683
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159136
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159526
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159523
|
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: 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: 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: 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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm4 |
T |
C |
4: 144,401,215 (GRCm39) |
T90A |
possibly damaging |
Het |
Abi2 |
A |
G |
1: 60,476,215 (GRCm39) |
T96A |
probably damaging |
Het |
Adam34 |
T |
A |
8: 44,104,094 (GRCm39) |
K517M |
probably benign |
Het |
Atm |
A |
T |
9: 53,426,617 (GRCm39) |
I547N |
probably benign |
Het |
Cadm4 |
A |
T |
7: 24,198,947 (GRCm39) |
D74V |
possibly damaging |
Het |
Caprin1 |
G |
A |
2: 103,599,210 (GRCm39) |
P46S |
probably damaging |
Het |
Cbl |
A |
T |
9: 44,112,358 (GRCm39) |
Y112* |
probably null |
Het |
Ccdc180 |
T |
C |
4: 45,900,256 (GRCm39) |
V246A |
probably benign |
Het |
Chd1 |
A |
T |
17: 15,975,259 (GRCm39) |
E1103V |
probably damaging |
Het |
Clock |
G |
A |
5: 76,384,933 (GRCm39) |
P428L |
probably benign |
Het |
Cntn2 |
T |
A |
1: 132,443,843 (GRCm39) |
I979F |
probably benign |
Het |
Col2a1 |
A |
G |
15: 97,875,707 (GRCm39) |
S1193P |
unknown |
Het |
Fga |
A |
T |
3: 82,937,507 (GRCm39) |
Y128F |
probably benign |
Het |
Glyr1 |
A |
T |
16: 4,838,152 (GRCm39) |
D365E |
probably benign |
Het |
Gmps |
A |
T |
3: 63,909,013 (GRCm39) |
H505L |
probably benign |
Het |
Hexim2 |
A |
G |
11: 103,029,464 (GRCm39) |
N172S |
probably benign |
Het |
Hmgcr |
T |
C |
13: 96,803,030 (GRCm39) |
E65G |
probably null |
Het |
Hsd17b4 |
T |
C |
18: 50,305,100 (GRCm39) |
S446P |
possibly damaging |
Het |
Kirrel3 |
C |
T |
9: 34,927,737 (GRCm39) |
T382I |
probably benign |
Het |
Klra7 |
A |
T |
6: 130,203,498 (GRCm39) |
Y169* |
probably null |
Het |
Lmbrd1 |
T |
C |
1: 24,745,055 (GRCm39) |
|
probably benign |
Het |
Loxhd1 |
A |
G |
18: 77,416,897 (GRCm39) |
E211G |
possibly damaging |
Het |
Maf1 |
T |
A |
15: 76,236,892 (GRCm39) |
F44I |
probably damaging |
Het |
Mmd2 |
A |
G |
5: 142,560,984 (GRCm39) |
S84P |
probably damaging |
Het |
Morc2b |
T |
C |
17: 33,357,139 (GRCm39) |
E211G |
probably benign |
Het |
Mov10l1 |
T |
C |
15: 88,909,040 (GRCm39) |
|
probably benign |
Het |
Mycbp2 |
C |
A |
14: 103,392,946 (GRCm39) |
C3205F |
possibly damaging |
Het |
Myg1 |
G |
A |
15: 102,242,773 (GRCm39) |
V155M |
probably benign |
Het |
Ncam2 |
A |
G |
16: 81,258,459 (GRCm39) |
N247S |
probably benign |
Het |
Nek11 |
A |
G |
9: 105,177,259 (GRCm39) |
|
probably null |
Het |
Nt5dc3 |
T |
A |
10: 86,656,139 (GRCm39) |
|
probably benign |
Het |
Nudcd3 |
A |
G |
11: 6,100,551 (GRCm39) |
Y134H |
probably damaging |
Het |
Ogfod1 |
T |
C |
8: 94,789,719 (GRCm39) |
|
probably null |
Het |
Or5b99 |
A |
T |
19: 12,977,125 (GRCm39) |
L258F |
possibly damaging |
Het |
Orm2 |
T |
C |
4: 63,281,215 (GRCm39) |
V51A |
probably benign |
Het |
P2ry14 |
T |
C |
3: 59,022,756 (GRCm39) |
I244V |
probably damaging |
Het |
Poll |
A |
G |
19: 45,542,115 (GRCm39) |
V397A |
probably damaging |
Het |
Ppdpf |
C |
A |
2: 180,829,687 (GRCm39) |
|
probably benign |
Het |
Ptch1 |
T |
C |
13: 63,659,495 (GRCm39) |
E1249G |
probably benign |
Het |
Rdh16f1 |
C |
A |
10: 127,595,844 (GRCm39) |
T13K |
probably benign |
Het |
Rrp1 |
G |
A |
10: 78,240,905 (GRCm39) |
|
probably benign |
Het |
Sec14l2 |
A |
G |
11: 4,053,432 (GRCm39) |
M346T |
probably benign |
Het |
Sh2d2a |
A |
T |
3: 87,759,136 (GRCm39) |
Q246L |
probably benign |
Het |
Slc44a1 |
G |
A |
4: 53,491,448 (GRCm39) |
D62N |
probably damaging |
Het |
Snx22 |
A |
G |
9: 65,976,060 (GRCm39) |
Y58H |
probably damaging |
Het |
Spata31f1a |
T |
C |
4: 42,852,548 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
A |
2: 76,599,779 (GRCm39) |
D19104V |
probably damaging |
Het |
Ugt2a3 |
T |
C |
5: 87,474,979 (GRCm39) |
S422G |
probably damaging |
Het |
Zfyve19 |
G |
T |
2: 119,041,094 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Gmppb |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02685:Gmppb
|
APN |
9 |
107,927,118 (GRCm39) |
unclassified |
probably benign |
|
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 |
2013-10-07 |