Incidental Mutation 'R3973:Gmppb'
| ID |
312940 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gmppb
|
| Ensembl Gene |
ENSMUSG00000070284 |
| Gene Name |
GDP-mannose pyrophosphorylase B |
| Synonyms |
|
| MMRRC Submission |
040841-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.955)
|
| Stock # |
R3973 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
107926490-107929119 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107927338 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 95
(D95G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107914
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035214]
[ENSMUST00000047746]
[ENSMUST00000047947]
[ENSMUST00000085060]
[ENSMUST00000112295]
[ENSMUST00000162355]
[ENSMUST00000160649]
[ENSMUST00000176566]
[ENSMUST00000160249]
[ENSMUST00000177158]
[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
AA Change: D95G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000036898
Gene: ENSMUSG00000070284
AA Change: D95G
| 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
AA Change: D95G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000107914
Gene: ENSMUSG00000070284
AA Change: D95G
| 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: ENSMUST00000167159
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176454
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150700
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161673
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159526
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159523
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173683
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176613
|
| 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: 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 |
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: 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 |
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 |
|
| Meta Mutation Damage Score |
0.0813 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.3%
|
| Validation Efficiency |
98% (61/62) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
T |
C |
4: 148,029,488 (GRCm39) |
I486T |
probably damaging |
Het |
| 4933427D14Rik |
T |
C |
11: 72,089,567 (GRCm39) |
R106G |
probably damaging |
Het |
| Cfap54 |
A |
G |
10: 92,675,333 (GRCm39) |
S2863P |
possibly damaging |
Het |
| Copa |
T |
A |
1: 171,948,812 (GRCm39) |
S1155T |
probably benign |
Het |
| Crot |
T |
C |
5: 9,027,541 (GRCm39) |
T264A |
probably benign |
Het |
| Ddx3y |
G |
A |
Y: 1,267,170 (GRCm39) |
A232V |
probably damaging |
Het |
| Dst |
T |
G |
1: 34,050,979 (GRCm39) |
V25G |
probably benign |
Het |
| Ehbp1 |
C |
T |
11: 22,087,867 (GRCm39) |
A406T |
probably benign |
Het |
| Eml5 |
A |
T |
12: 98,768,724 (GRCm39) |
|
probably benign |
Het |
| Eps8 |
A |
T |
6: 137,486,153 (GRCm39) |
M453K |
probably benign |
Het |
| Galnt3 |
T |
C |
2: 65,937,374 (GRCm39) |
D112G |
possibly damaging |
Het |
| Glra4 |
C |
T |
X: 135,663,542 (GRCm39) |
A336T |
probably damaging |
Het |
| Gprc6a |
T |
C |
10: 51,504,544 (GRCm39) |
Y100C |
possibly damaging |
Het |
| Gpx6 |
C |
A |
13: 21,501,828 (GRCm39) |
S150Y |
probably damaging |
Het |
| Hsd17b3 |
A |
T |
13: 64,207,300 (GRCm39) |
V247D |
probably damaging |
Het |
| Htr7 |
T |
C |
19: 36,034,160 (GRCm39) |
D165G |
probably damaging |
Het |
| Igha |
T |
C |
12: 113,219,972 (GRCm39) |
|
probably benign |
Het |
| Igsf10 |
A |
G |
3: 59,239,345 (GRCm39) |
C279R |
probably damaging |
Het |
| Irak4 |
A |
G |
15: 94,452,621 (GRCm39) |
E182G |
possibly damaging |
Het |
| Lipo3 |
A |
T |
19: 33,535,723 (GRCm39) |
V274E |
probably damaging |
Het |
| Lrpprc |
A |
C |
17: 85,078,269 (GRCm39) |
|
probably null |
Het |
| Mast1 |
T |
C |
8: 85,645,393 (GRCm39) |
Y684C |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,722,363 (GRCm39) |
F2382L |
probably benign |
Het |
| Mepe |
C |
T |
5: 104,484,944 (GRCm39) |
P28L |
probably benign |
Het |
| Mrgpra3 |
T |
A |
7: 47,239,414 (GRCm39) |
I171F |
probably benign |
Het |
| Muc2 |
T |
A |
7: 141,300,541 (GRCm39) |
|
probably benign |
Het |
| Myh3 |
C |
T |
11: 66,987,262 (GRCm39) |
Q1371* |
probably null |
Het |
| Nodal |
T |
A |
10: 61,258,833 (GRCm39) |
V90E |
probably benign |
Het |
| Npas4 |
A |
T |
19: 5,036,579 (GRCm39) |
H528Q |
probably benign |
Het |
| Nt5dc3 |
T |
C |
10: 86,660,100 (GRCm39) |
V382A |
probably damaging |
Het |
| Pcdh18 |
G |
A |
3: 49,709,035 (GRCm39) |
T293I |
probably damaging |
Het |
| Phf20l1 |
A |
G |
15: 66,513,665 (GRCm39) |
D947G |
probably damaging |
Het |
| Phf8-ps |
A |
T |
17: 33,285,405 (GRCm39) |
S466T |
probably benign |
Het |
| Pla2r1 |
A |
G |
2: 60,279,306 (GRCm39) |
V758A |
probably benign |
Het |
| Plod2 |
G |
T |
9: 92,480,672 (GRCm39) |
G422* |
probably null |
Het |
| Ppp1r12a |
T |
C |
10: 108,089,341 (GRCm39) |
V660A |
probably benign |
Het |
| Prdm6 |
T |
C |
18: 53,673,278 (GRCm39) |
I186T |
possibly damaging |
Het |
| Prkd3 |
G |
A |
17: 79,266,570 (GRCm39) |
|
probably benign |
Het |
| Prrc2a |
A |
G |
17: 35,376,908 (GRCm39) |
L734P |
probably damaging |
Het |
| Rnf128 |
C |
A |
X: 138,565,271 (GRCm39) |
L282I |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,359,879 (GRCm39) |
N4424S |
|
Het |
| Scrn3 |
T |
C |
2: 73,166,121 (GRCm39) |
S385P |
possibly damaging |
Het |
| Serpina1d |
A |
T |
12: 103,734,107 (GRCm39) |
S66T |
probably benign |
Het |
| Setd3 |
T |
C |
12: 108,131,417 (GRCm39) |
K3R |
possibly damaging |
Het |
| Slc2a7 |
A |
G |
4: 150,242,667 (GRCm39) |
|
probably null |
Het |
| Smad4 |
G |
T |
18: 73,810,807 (GRCm39) |
T59K |
possibly damaging |
Het |
| Spc25 |
A |
G |
2: 69,032,945 (GRCm39) |
L60P |
probably damaging |
Het |
| Stam |
A |
C |
2: 14,143,772 (GRCm39) |
H354P |
probably damaging |
Het |
| Tesk1 |
C |
T |
4: 43,445,786 (GRCm39) |
P280S |
possibly damaging |
Het |
| Tmem120a |
C |
G |
5: 135,765,131 (GRCm39) |
R254P |
probably benign |
Het |
| Traf5 |
T |
C |
1: 191,729,837 (GRCm39) |
T405A |
probably benign |
Het |
| Trav7-4 |
A |
G |
14: 53,699,119 (GRCm39) |
S89G |
probably benign |
Het |
| Tsc22d1 |
T |
C |
14: 76,656,049 (GRCm39) |
S761P |
probably damaging |
Het |
| Ugt1a10 |
C |
A |
1: 88,143,862 (GRCm39) |
H361N |
probably damaging |
Het |
| Ugt2b1 |
C |
A |
5: 87,065,534 (GRCm39) |
V502L |
probably benign |
Het |
| Vip |
T |
A |
10: 5,592,590 (GRCm39) |
S77T |
possibly damaging |
Het |
| Wdr72 |
A |
T |
9: 74,125,979 (GRCm39) |
M1025L |
probably benign |
Het |
| Zfp541 |
A |
G |
7: 15,806,147 (GRCm39) |
D94G |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATGAAGAGGAGCCTTTGG -3'
(R):5'- TGCCTATCCCACATCTCAAAGG -3'
Sequencing Primer
(F):5'- CCTTTGGGGACAGGTCAGTATAAG -3'
(R):5'- CCCAAAGACATTCTGCATAGCTTTG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation