Incidental Mutation 'R3053:Gmppa'
| ID |
265015 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gmppa
|
| Ensembl Gene |
ENSMUSG00000033021 |
| Gene Name |
GDP-mannose pyrophosphorylase A |
| Synonyms |
1810012N01Rik |
| MMRRC Submission |
040562-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.460)
|
| Stock # |
R3053 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
75412574-75419823 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75418400 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 261
(Y261C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109214
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037796]
[ENSMUST00000113584]
[ENSMUST00000131545]
[ENSMUST00000133418]
[ENSMUST00000143730]
[ENSMUST00000140287]
[ENSMUST00000144874]
[ENSMUST00000188097]
[ENSMUST00000141124]
[ENSMUST00000145166]
|
| AlphaFold |
Q922H4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037796
AA Change: Y261C
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000035564
Gene: ENSMUSG00000033021
AA Change: Y261C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTP_transferase
|
3 |
209 |
1.2e-30 |
PFAM |
|
Pfam:NTP_transf_3
|
4 |
206 |
4.1e-10 |
PFAM |
|
Pfam:Hexapep
|
280 |
321 |
2.6e-8 |
PFAM |
|
low complexity region
|
357 |
365 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113584
AA Change: Y261C
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000109214
Gene: ENSMUSG00000033021
AA Change: Y261C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTP_transferase
|
3 |
209 |
1.6e-28 |
PFAM |
|
Pfam:NTP_transf_3
|
4 |
206 |
1.6e-9 |
PFAM |
|
Pfam:Hexapep
|
286 |
321 |
4.3e-8 |
PFAM |
|
low complexity region
|
357 |
365 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124539
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131545
|
| SMART Domains |
Protein: ENSMUSP00000120841
Gene: ENSMUSG00000033021
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTP_transferase
|
3 |
209 |
7.2e-31 |
PFAM |
|
Pfam:NTP_transf_3
|
4 |
157 |
1.7e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132291
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133418
|
| SMART Domains |
Protein: ENSMUSP00000122443
Gene: ENSMUSG00000033021
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTP_transferase
|
3 |
209 |
6.8e-31 |
PFAM |
|
Pfam:NTP_transf_3
|
4 |
204 |
1e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135453
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143730
|
| SMART Domains |
Protein: ENSMUSP00000114375
Gene: ENSMUSG00000033021
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTP_transferase
|
3 |
196 |
1.1e-30 |
PFAM |
|
Pfam:NTP_transf_3
|
4 |
173 |
9.2e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140287
|
| SMART Domains |
Protein: ENSMUSP00000121552
Gene: ENSMUSG00000033021
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTP_transferase
|
3 |
161 |
1.7e-22 |
PFAM |
|
Pfam:NTP_transf_3
|
4 |
155 |
6.1e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144874
|
| SMART Domains |
Protein: ENSMUSP00000121418
Gene: ENSMUSG00000033021
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTP_transferase
|
1 |
174 |
6.6e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188097
|
| SMART Domains |
Protein: ENSMUSP00000139936
Gene: ENSMUSG00000033021
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTP_transferase
|
1 |
150 |
2.3e-15 |
PFAM |
|
Pfam:NTP_transf_3
|
2 |
142 |
9.8e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141124
|
| SMART Domains |
Protein: ENSMUSP00000116783
Gene: ENSMUSG00000033021
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTP_transferase
|
3 |
72 |
1.1e-13 |
PFAM |
|
Pfam:NTP_transf_3
|
4 |
71 |
1.9e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145166
|
| SMART Domains |
Protein: ENSMUSP00000116754
Gene: ENSMUSG00000033021
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTP_transferase
|
3 |
91 |
5.2e-15 |
PFAM |
|
Pfam:NTP_transf_3
|
4 |
88 |
1.4e-9 |
PFAM |
|
| Meta Mutation Damage Score |
0.8950 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (37/37) |
| 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. This enzyme catalyzes the reaction which converts mannose-1-phosphate and GTP to GDP-mannose which is involved in the production of N-linked oligosaccharides. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy5 |
T |
C |
16: 35,124,086 (GRCm39) |
L1255P |
probably damaging |
Het |
| Agl |
T |
A |
3: 116,584,682 (GRCm39) |
I213F |
probably damaging |
Het |
| Arap2 |
A |
G |
5: 62,906,200 (GRCm39) |
V273A |
probably benign |
Het |
| Asb18 |
T |
A |
1: 89,920,707 (GRCm39) |
H149L |
probably damaging |
Het |
| Axdnd1 |
T |
C |
1: 156,169,440 (GRCm39) |
T809A |
probably damaging |
Het |
| Bcl11b |
T |
C |
12: 107,882,260 (GRCm39) |
E613G |
probably benign |
Het |
| Cibar1 |
G |
C |
4: 12,157,767 (GRCm39) |
|
probably null |
Het |
| Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
| Cyp2a5 |
A |
G |
7: 26,542,410 (GRCm39) |
I471V |
possibly damaging |
Het |
| Dmtf1 |
G |
T |
5: 9,179,316 (GRCm39) |
T206K |
probably damaging |
Het |
| Dner |
G |
T |
1: 84,361,747 (GRCm39) |
Q621K |
probably damaging |
Het |
| Lama5 |
C |
T |
2: 179,824,860 (GRCm39) |
R2519K |
probably damaging |
Het |
| Mical2 |
G |
T |
7: 111,910,630 (GRCm39) |
A267S |
probably damaging |
Het |
| Nrxn3 |
A |
T |
12: 89,221,871 (GRCm39) |
D550V |
probably damaging |
Het |
| Or1n1 |
T |
A |
2: 36,749,959 (GRCm39) |
M134L |
probably benign |
Het |
| Pole |
A |
T |
5: 110,437,661 (GRCm39) |
D73V |
probably damaging |
Het |
| Ppm1b |
G |
A |
17: 85,321,274 (GRCm39) |
R472K |
probably benign |
Het |
| Ppm1m |
A |
G |
9: 106,075,874 (GRCm39) |
I18T |
probably benign |
Het |
| Psg18 |
C |
T |
7: 18,083,118 (GRCm39) |
G225R |
probably damaging |
Het |
| R3hcc1l |
T |
G |
19: 42,551,064 (GRCm39) |
Y20* |
probably null |
Het |
| Rapgef1 |
T |
C |
2: 29,614,868 (GRCm39) |
I817T |
probably damaging |
Het |
| Rasal3 |
T |
C |
17: 32,622,413 (GRCm39) |
E4G |
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,752,515 (GRCm39) |
V3598E |
probably damaging |
Het |
| Slc15a4 |
A |
T |
5: 127,673,746 (GRCm39) |
V556E |
possibly damaging |
Het |
| Spats2l |
A |
G |
1: 57,939,925 (GRCm39) |
K193R |
probably damaging |
Het |
| Tacc2 |
G |
A |
7: 130,227,226 (GRCm39) |
E1323K |
possibly damaging |
Het |
| Tbc1d21 |
T |
A |
9: 58,270,352 (GRCm39) |
D141V |
probably damaging |
Het |
| Tedc1 |
G |
T |
12: 113,120,087 (GRCm39) |
|
probably benign |
Het |
| Terf2 |
A |
C |
8: 107,806,016 (GRCm39) |
L312R |
possibly damaging |
Het |
| Tmem132d |
A |
C |
5: 127,869,538 (GRCm39) |
S599A |
probably benign |
Het |
| Trp53bp2 |
T |
C |
1: 182,281,347 (GRCm39) |
F983L |
probably damaging |
Het |
| Ubxn2a |
T |
A |
12: 4,941,322 (GRCm39) |
K95* |
probably null |
Het |
| Ugt2a2 |
A |
T |
5: 87,622,328 (GRCm39) |
N213K |
probably damaging |
Het |
| Xpo6 |
T |
C |
7: 125,703,893 (GRCm39) |
N1086D |
probably damaging |
Het |
| Zbed5 |
A |
T |
5: 129,930,987 (GRCm39) |
H312L |
possibly damaging |
Het |
| Zfp729b |
A |
G |
13: 67,741,585 (GRCm39) |
Y227H |
probably damaging |
Het |
|
| Other mutations in Gmppa |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01871:Gmppa
|
APN |
1 |
75,413,661 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02418:Gmppa
|
APN |
1 |
75,415,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02899:Gmppa
|
APN |
1 |
75,418,474 (GRCm39) |
splice site |
probably null |
|
|
IGL03009:Gmppa
|
APN |
1 |
75,416,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4151001:Gmppa
|
UTSW |
1 |
75,418,468 (GRCm39) |
nonsense |
probably null |
|
|
R0708:Gmppa
|
UTSW |
1 |
75,419,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1352:Gmppa
|
UTSW |
1 |
75,417,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1886:Gmppa
|
UTSW |
1 |
75,419,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2000:Gmppa
|
UTSW |
1 |
75,418,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4301:Gmppa
|
UTSW |
1 |
75,419,140 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5054:Gmppa
|
UTSW |
1 |
75,416,015 (GRCm39) |
nonsense |
probably null |
|
|
R5791:Gmppa
|
UTSW |
1 |
75,418,899 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6801:Gmppa
|
UTSW |
1 |
75,418,391 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7806:Gmppa
|
UTSW |
1 |
75,415,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8105:Gmppa
|
UTSW |
1 |
75,413,641 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8747:Gmppa
|
UTSW |
1 |
75,416,025 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8878:Gmppa
|
UTSW |
1 |
75,414,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9491:Gmppa
|
UTSW |
1 |
75,415,602 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9541:Gmppa
|
UTSW |
1 |
75,417,094 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCGACTAGAACAGGACGTG -3'
(R):5'- CCCAAAACACATCTGGATAGGG -3'
Sequencing Primer
(F):5'- ACCTCACCGATGGTATCTGGAG -3'
(R):5'- CACATCTGGATAGGGAGGGG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation