Incidental Mutation 'R6801:Gmppa'
ID |
533315 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gmppa
|
Ensembl Gene |
ENSMUSG00000033021 |
Gene Name |
GDP-mannose pyrophosphorylase A |
Synonyms |
1810012N01Rik |
MMRRC Submission |
044914-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.452)
|
Stock # |
R6801 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
75412574-75419823 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 75418391 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 258
(S258C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109214
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037796]
[ENSMUST00000113584]
[ENSMUST00000131545]
[ENSMUST00000133418]
[ENSMUST00000140287]
[ENSMUST00000141124]
[ENSMUST00000143730]
[ENSMUST00000144874]
[ENSMUST00000145166]
[ENSMUST00000188097]
|
AlphaFold |
Q922H4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037796
AA Change: S258C
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000035564 Gene: ENSMUSG00000033021 AA Change: S258C
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 |
possibly damaging
Transcript: ENSMUST00000113584
AA Change: S258C
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000109214 Gene: ENSMUSG00000033021 AA Change: S258C
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 |
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 |
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 |
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: 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: 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: 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: 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 |
|
Meta Mutation Damage Score |
0.4158 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.8%
|
Validation Efficiency |
100% (49/49) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam3 |
T |
A |
8: 25,174,680 (GRCm39) |
Y695F |
possibly damaging |
Het |
Arhgap20 |
A |
G |
9: 51,759,892 (GRCm39) |
D545G |
probably damaging |
Het |
Arhgef11 |
A |
G |
3: 87,643,159 (GRCm39) |
E1457G |
possibly damaging |
Het |
Atp2b4 |
T |
A |
1: 133,655,524 (GRCm39) |
I747F |
probably damaging |
Het |
Bche |
T |
A |
3: 73,609,133 (GRCm39) |
I98L |
probably benign |
Het |
C2cd6 |
TC |
T |
1: 59,133,742 (GRCm39) |
|
probably null |
Het |
Ccdc90b |
A |
G |
7: 92,216,943 (GRCm39) |
T72A |
probably benign |
Het |
Chrd |
A |
G |
16: 20,554,497 (GRCm39) |
E352G |
possibly damaging |
Het |
Csmd2 |
A |
G |
4: 128,277,743 (GRCm39) |
E953G |
probably benign |
Het |
Dchs2 |
T |
A |
3: 83,035,841 (GRCm39) |
M196K |
probably benign |
Het |
Ddx10 |
G |
A |
9: 53,159,207 (GRCm39) |
Q33* |
probably null |
Het |
Dennd4b |
T |
A |
3: 90,176,086 (GRCm39) |
V201E |
probably damaging |
Het |
Fbn2 |
T |
A |
18: 58,246,420 (GRCm39) |
H494L |
probably benign |
Het |
Fbxw13 |
G |
A |
9: 109,023,795 (GRCm39) |
A83V |
probably null |
Het |
Fxr1 |
A |
G |
3: 34,108,452 (GRCm39) |
D321G |
possibly damaging |
Het |
Galm |
A |
G |
17: 80,489,053 (GRCm39) |
H233R |
probably benign |
Het |
Gm7298 |
A |
G |
6: 121,752,768 (GRCm39) |
T837A |
probably benign |
Het |
Hk1 |
T |
G |
10: 62,116,910 (GRCm39) |
E645A |
probably damaging |
Het |
Igkv1-132 |
A |
G |
6: 67,737,324 (GRCm39) |
T97A |
probably damaging |
Het |
Kcnc1 |
T |
C |
7: 46,084,716 (GRCm39) |
F547L |
probably damaging |
Het |
Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
Lingo2 |
T |
A |
4: 35,709,566 (GRCm39) |
E138V |
probably damaging |
Het |
Myb |
T |
C |
10: 21,020,865 (GRCm39) |
|
probably null |
Het |
Mybl1 |
A |
G |
1: 9,753,353 (GRCm39) |
V243A |
probably benign |
Het |
Mylk4 |
C |
T |
13: 32,912,393 (GRCm39) |
S189N |
probably benign |
Het |
Or13c7 |
T |
A |
4: 43,855,206 (GRCm39) |
L299* |
probably null |
Het |
Or2y16 |
A |
G |
11: 49,335,169 (GRCm39) |
M164V |
probably benign |
Het |
Or4k77 |
A |
T |
2: 111,199,394 (GRCm39) |
Q139L |
probably benign |
Het |
Or4x12-ps1 |
A |
T |
2: 89,915,953 (GRCm39) |
I284N |
probably damaging |
Het |
Or5w1b |
A |
G |
2: 87,475,667 (GRCm39) |
Y267H |
probably benign |
Het |
Or8g19 |
A |
T |
9: 39,055,506 (GRCm39) |
I37F |
probably benign |
Het |
Oxld1 |
A |
T |
11: 120,347,650 (GRCm39) |
D182E |
probably damaging |
Het |
Phf13 |
A |
T |
4: 152,076,017 (GRCm39) |
L295Q |
probably damaging |
Het |
Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
Prss33 |
A |
G |
17: 24,053,813 (GRCm39) |
L88P |
possibly damaging |
Het |
Ralgds |
A |
G |
2: 28,438,448 (GRCm39) |
Y596C |
probably damaging |
Het |
Rftn2 |
A |
G |
1: 55,233,418 (GRCm39) |
I379T |
possibly damaging |
Het |
Rnf214 |
C |
T |
9: 45,807,403 (GRCm39) |
E267K |
probably damaging |
Het |
Rpp14 |
T |
C |
14: 8,083,717 (GRCm38) |
|
probably benign |
Het |
Rpusd2 |
A |
G |
2: 118,865,876 (GRCm39) |
Y191C |
probably damaging |
Het |
Serpinb9c |
T |
A |
13: 33,341,807 (GRCm39) |
M1L |
probably benign |
Het |
Shroom3 |
A |
G |
5: 93,088,795 (GRCm39) |
D434G |
probably damaging |
Het |
Smc5 |
G |
A |
19: 23,192,010 (GRCm39) |
S888L |
probably benign |
Het |
Suv39h2 |
C |
T |
2: 3,465,458 (GRCm39) |
R299K |
probably benign |
Het |
Trappc4 |
A |
T |
9: 44,315,685 (GRCm39) |
I176N |
probably damaging |
Het |
Trim12c |
A |
T |
7: 103,997,337 (GRCm39) |
V73E |
probably damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly 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 |
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 |
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'- TGCACCTCACCGATGGTATC -3'
(R):5'- GCGGTTGGATGGATGTAAAC -3'
Sequencing Primer
(F):5'- ACCTCACCGATGGTATCTGGAG -3'
(R):5'- CGGTTGGATGGATGTAAACATTTCC -3'
|
Posted On |
2018-09-12 |