Incidental Mutation 'R1352:Gmppa'
| ID |
156683 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gmppa
|
| Ensembl Gene |
ENSMUSG00000033021 |
| Gene Name |
GDP-mannose pyrophosphorylase A |
| Synonyms |
1810012N01Rik |
| MMRRC Submission |
039417-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.452)
|
| Stock # |
R1352 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
75412574-75419823 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 75417178 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 204
(D204E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122443
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037796]
[ENSMUST00000113584]
[ENSMUST00000131545]
[ENSMUST00000133418]
[ENSMUST00000144874]
[ENSMUST00000140287]
[ENSMUST00000143730]
[ENSMUST00000145166]
[ENSMUST00000188097]
[ENSMUST00000141124]
|
| AlphaFold |
Q922H4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037796
AA Change: D204E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000035564
Gene: ENSMUSG00000033021
AA Change: D204E
| 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: D204E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109214
Gene: ENSMUSG00000033021
AA Change: D204E
| 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
AA Change: D204E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000120841
Gene: ENSMUSG00000033021
AA Change: D204E
| 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
AA Change: D204E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000122443
Gene: ENSMUSG00000033021
AA Change: D204E
| 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: ENSMUST00000144874
AA Change: D169E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000121418
Gene: ENSMUSG00000033021
AA Change: D169E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTP_transferase
|
1 |
174 |
6.6e-19 |
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: 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: 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.0691 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.5%
|
| Validation Efficiency |
95% (42/44) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
A |
G |
7: 45,784,892 (GRCm39) |
|
probably benign |
Het |
| Acbd3 |
T |
A |
1: 180,566,095 (GRCm39) |
Y263N |
probably damaging |
Het |
| Aldh4a1 |
T |
C |
4: 139,362,830 (GRCm39) |
V142A |
probably benign |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Cass4 |
T |
C |
2: 172,258,415 (GRCm39) |
S138P |
probably damaging |
Het |
| Cbln4 |
T |
C |
2: 171,879,376 (GRCm39) |
K171E |
possibly damaging |
Het |
| Cd226 |
A |
G |
18: 89,265,298 (GRCm39) |
Y79C |
probably damaging |
Het |
| Dclre1a |
T |
C |
19: 56,533,595 (GRCm39) |
D333G |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,268,329 (GRCm39) |
|
probably null |
Het |
| Eml5 |
A |
G |
12: 98,797,262 (GRCm39) |
|
probably benign |
Het |
| Evx1 |
T |
C |
6: 52,293,995 (GRCm39) |
S388P |
probably damaging |
Het |
| Gins1 |
T |
A |
2: 150,772,768 (GRCm39) |
L177* |
probably null |
Het |
| Gm5422 |
A |
C |
10: 31,126,731 (GRCm39) |
|
noncoding transcript |
Het |
| Ifna7 |
A |
C |
4: 88,734,897 (GRCm39) |
T145P |
possibly damaging |
Het |
| Inhbb |
T |
C |
1: 119,348,425 (GRCm39) |
D131G |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,013,240 (GRCm39) |
K2679E |
probably damaging |
Het |
| Kif20b |
C |
A |
19: 34,902,035 (GRCm39) |
H4N |
probably benign |
Het |
| Kng1 |
G |
T |
16: 22,886,444 (GRCm39) |
|
probably null |
Het |
| Lrrfip1 |
C |
T |
1: 91,043,089 (GRCm39) |
A498V |
probably benign |
Het |
| Myo3a |
T |
A |
2: 22,328,486 (GRCm39) |
|
probably null |
Het |
| Nkapl |
T |
C |
13: 21,652,230 (GRCm39) |
R128G |
unknown |
Het |
| Or51v8 |
T |
C |
7: 103,319,518 (GRCm39) |
H240R |
probably damaging |
Het |
| Or5bw2 |
A |
T |
7: 6,573,782 (GRCm39) |
Y264F |
probably benign |
Het |
| Prlr |
T |
C |
15: 10,328,872 (GRCm39) |
V449A |
probably benign |
Het |
| Rbm44 |
C |
A |
1: 91,080,764 (GRCm39) |
D317E |
probably damaging |
Het |
| Sirt5 |
T |
C |
13: 43,548,283 (GRCm39) |
S310P |
probably damaging |
Het |
| Spice1 |
T |
C |
16: 44,207,185 (GRCm39) |
S856P |
probably damaging |
Het |
| Sptan1 |
T |
A |
2: 29,911,199 (GRCm39) |
|
probably benign |
Het |
| St6gal1 |
A |
G |
16: 23,140,401 (GRCm39) |
K191E |
probably damaging |
Het |
| Stat6 |
A |
T |
10: 127,486,680 (GRCm39) |
Q152L |
probably benign |
Het |
| Stk3 |
T |
C |
15: 35,008,371 (GRCm39) |
D253G |
probably damaging |
Het |
| Tas2r139 |
C |
T |
6: 42,117,874 (GRCm39) |
A2V |
probably benign |
Het |
| Tfpi2 |
A |
G |
6: 3,968,281 (GRCm39) |
L15P |
probably damaging |
Het |
| Topbp1 |
T |
A |
9: 103,224,207 (GRCm39) |
C1445S |
probably benign |
Het |
| Trappc11 |
A |
T |
8: 47,978,081 (GRCm39) |
H195Q |
possibly damaging |
Het |
| Ttc21a |
A |
T |
9: 119,783,718 (GRCm39) |
E600V |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,677,041 (GRCm39) |
|
probably benign |
Het |
| Vmn2r88 |
T |
C |
14: 51,656,007 (GRCm39) |
S740P |
probably damaging |
Het |
| Wrn |
A |
C |
8: 33,784,944 (GRCm39) |
V476G |
probably benign |
Het |
| Zdbf2 |
C |
A |
1: 63,342,212 (GRCm39) |
A197E |
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 |
|
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 |
|
R3053:Gmppa
|
UTSW |
1 |
75,418,400 (GRCm39) |
missense |
probably benign |
0.04 |
|
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'- ATGAACTAGCCCATTCGGGCGTTG -3'
(R):5'- TGGGAGGGACAAACCTGACATTAGC -3'
Sequencing Primer
(F):5'- CCTGAGGGTGATGTAGTATGAG -3'
(R):5'- cccgagcaagagtgtgtg -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation