Incidental Mutation 'R7777:Gapdh'
| ID |
598952 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gapdh
|
| Ensembl Gene |
ENSMUSG00000057666 |
| Gene Name |
glyceraldehyde-3-phosphate dehydrogenase |
| Synonyms |
Gapd, Gapd |
| MMRRC Submission |
045833-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7777 (G1)
|
| Quality Score |
213.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
125138812-125143450 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 125139911 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 164
(Y164*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113942
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073605]
[ENSMUST00000117675]
[ENSMUST00000117757]
[ENSMUST00000118875]
[ENSMUST00000119527]
[ENSMUST00000144364]
[ENSMUST00000182052]
[ENSMUST00000182277]
[ENSMUST00000183272]
|
| AlphaFold |
P16858 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000073605
AA Change: Y138*
|
| SMART Domains |
Protein: ENSMUSP00000073289
Gene: ENSMUSG00000057666
AA Change: Y138*
| Domain | Start | End | E-Value | Type |
|---|
|
Gp_dh_N
|
2 |
143 |
4.2e-90 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117675
|
| SMART Domains |
Protein: ENSMUSP00000113088
Gene: ENSMUSG00000038271
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
21 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
105 |
126 |
N/A |
INTRINSIC |
|
coiled coil region
|
190 |
242 |
N/A |
INTRINSIC |
|
low complexity region
|
362 |
375 |
N/A |
INTRINSIC |
|
low complexity region
|
381 |
392 |
N/A |
INTRINSIC |
|
PDB:1GK4|F
|
393 |
459 |
6e-7 |
PDB |
|
low complexity region
|
474 |
497 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000117757
AA Change: Y164*
|
| SMART Domains |
Protein: ENSMUSP00000113942
Gene: ENSMUSG00000057666
AA Change: Y164*
| Domain | Start | End | E-Value | Type |
|---|
|
Gp_dh_N
|
2 |
150 |
7.33e-109 |
SMART |
|
Pfam:Gp_dh_C
|
155 |
312 |
5.2e-74 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000118875
AA Change: Y138*
|
| SMART Domains |
Protein: ENSMUSP00000113213
Gene: ENSMUSG00000057666
AA Change: Y138*
| Domain | Start | End | E-Value | Type |
|---|
|
Gp_dh_N
|
2 |
150 |
7.33e-109 |
SMART |
|
Pfam:Gp_dh_C
|
155 |
312 |
7.4e-77 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119527
|
| SMART Domains |
Protein: ENSMUSP00000113376
Gene: ENSMUSG00000038271
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
21 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
105 |
126 |
N/A |
INTRINSIC |
|
coiled coil region
|
190 |
242 |
N/A |
INTRINSIC |
|
low complexity region
|
359 |
372 |
N/A |
INTRINSIC |
|
low complexity region
|
378 |
389 |
N/A |
INTRINSIC |
|
PDB:1GK4|F
|
390 |
456 |
6e-7 |
PDB |
|
low complexity region
|
471 |
494 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144364
|
| SMART Domains |
Protein: ENSMUSP00000116701
Gene: ENSMUSG00000038271
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
21 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
105 |
126 |
N/A |
INTRINSIC |
|
coiled coil region
|
190 |
242 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148835
|
| SMART Domains |
Protein: ENSMUSP00000115080
Gene: ENSMUSG00000038271
| Domain | Start | End | E-Value | Type |
|---|
|
Filament
|
34 |
348 |
4.99e-2 |
SMART |
|
low complexity region
|
356 |
379 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182052
|
| SMART Domains |
Protein: ENSMUSP00000138403
Gene: ENSMUSG00000057666
| Domain | Start | End | E-Value | Type |
|---|
|
Gp_dh_N
|
1 |
55 |
2.96e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182277
|
| SMART Domains |
Protein: ENSMUSP00000138295
Gene: ENSMUSG00000057666
| Domain | Start | End | E-Value | Type |
|---|
|
Gp_dh_N
|
2 |
57 |
2.75e-8 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000183272
AA Change: Y95*
|
| SMART Domains |
Protein: ENSMUSP00000138508
Gene: ENSMUSG00000057666
AA Change: Y95*
| Domain | Start | End | E-Value | Type |
|---|
|
Gp_dh_N
|
2 |
107 |
7.93e-64 |
SMART |
|
Pfam:Gp_dh_C
|
112 |
269 |
3e-76 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (47/47) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the glyceraldehyde-3-phosphate dehydrogenase protein family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein was originally identified as a key glycolytic enzyme that converts D-glyceraldehyde 3-phosphate (G3P) into 3-phospho-D-glyceroyl phosphate. Subsequent studies have assigned a variety of additional functions to the protein including nitrosylation of nuclear proteins, the regulation of mRNA stability, and acting as a transferrin receptor on the cell surface of macrophage. Alternative splicing results in multiple transcript variants. Many pseudogenes similar to this locus are found throughout the mouse genome. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mutant heterozygotes show reduced enzyme levels. The currently known mutant allels are homozygous lethal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
C |
T |
12: 113,453,758 (GRCm39) |
P192S |
possibly damaging |
Het |
| Arhgef10 |
A |
G |
8: 14,995,373 (GRCm39) |
T353A |
probably damaging |
Het |
| Cabyr |
A |
G |
18: 12,877,828 (GRCm39) |
D55G |
probably damaging |
Het |
| Dcaf4 |
T |
C |
12: 83,584,733 (GRCm39) |
V322A |
probably damaging |
Het |
| Ephb2 |
T |
A |
4: 136,498,947 (GRCm39) |
E44V |
possibly damaging |
Het |
| Fam3c |
T |
C |
6: 22,328,573 (GRCm39) |
I105V |
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,900,763 (GRCm39) |
D2994G |
probably damaging |
Het |
| Fryl |
C |
T |
5: 73,228,641 (GRCm39) |
D1697N |
probably damaging |
Het |
| Gm4353 |
T |
G |
7: 115,682,998 (GRCm39) |
Q194H |
possibly damaging |
Het |
| Ilvbl |
T |
A |
10: 78,413,085 (GRCm39) |
|
probably null |
Het |
| Ism2 |
T |
A |
12: 87,333,658 (GRCm39) |
|
probably null |
Het |
| Jak2 |
C |
T |
19: 29,254,268 (GRCm39) |
T196I |
probably benign |
Het |
| Lcor |
T |
G |
19: 41,547,234 (GRCm39) |
Y273D |
probably benign |
Het |
| Ldlrad4 |
G |
T |
18: 68,368,740 (GRCm39) |
A66S |
possibly damaging |
Het |
| Lysmd4 |
T |
A |
7: 66,873,446 (GRCm39) |
M27K |
possibly damaging |
Het |
| Muc17 |
G |
A |
5: 137,175,564 (GRCm39) |
|
silent |
Het |
| Or11h4b |
A |
T |
14: 50,918,261 (GRCm39) |
Y277N |
probably damaging |
Het |
| Or13a25 |
T |
A |
7: 140,247,854 (GRCm39) |
I211N |
probably benign |
Het |
| Or5m10 |
A |
G |
2: 85,717,951 (GRCm39) |
E269G |
possibly damaging |
Het |
| Oscp1 |
T |
C |
4: 125,958,774 (GRCm39) |
|
probably null |
Het |
| Pira2 |
A |
T |
7: 3,844,696 (GRCm39) |
F445Y |
probably benign |
Het |
| Pkd2l2 |
C |
A |
18: 34,549,913 (GRCm39) |
P186Q |
probably damaging |
Het |
| Plcb1 |
G |
A |
2: 135,062,677 (GRCm39) |
G96R |
possibly damaging |
Het |
| Plcd3 |
G |
C |
11: 102,965,481 (GRCm39) |
R535G |
probably benign |
Het |
| Plcg1 |
A |
G |
2: 160,596,523 (GRCm39) |
M681V |
possibly damaging |
Het |
| Polr1b |
C |
A |
2: 128,967,464 (GRCm39) |
F952L |
probably damaging |
Het |
| Polrmt |
A |
T |
10: 79,575,022 (GRCm39) |
D836E |
probably benign |
Het |
| Pramel12 |
T |
C |
4: 143,144,331 (GRCm39) |
Y226H |
possibly damaging |
Het |
| Prkag1 |
A |
T |
15: 98,712,478 (GRCm39) |
I149N |
probably damaging |
Het |
| Prkci |
A |
T |
3: 31,104,362 (GRCm39) |
Q575L |
possibly damaging |
Het |
| Prss40 |
C |
T |
1: 34,591,846 (GRCm39) |
W276* |
probably null |
Het |
| Ptprn |
T |
C |
1: 75,228,946 (GRCm39) |
D823G |
possibly damaging |
Het |
| Radil |
A |
C |
5: 142,529,303 (GRCm39) |
F131C |
probably damaging |
Het |
| Rif1 |
A |
G |
2: 52,006,368 (GRCm39) |
I550V |
probably benign |
Het |
| Rmnd1 |
T |
C |
10: 4,361,713 (GRCm39) |
E320G |
probably damaging |
Het |
| Sec31b |
T |
A |
19: 44,512,212 (GRCm39) |
K561* |
probably null |
Het |
| Spata31g1 |
C |
T |
4: 42,970,171 (GRCm39) |
Q53* |
probably null |
Het |
| Spata31g1 |
T |
C |
4: 42,971,095 (GRCm39) |
S143P |
probably benign |
Het |
| Tbx5 |
A |
C |
5: 120,021,232 (GRCm39) |
T413P |
probably benign |
Het |
| Tmprss7 |
A |
G |
16: 45,480,963 (GRCm39) |
|
probably null |
Het |
| Tnfaip8l2 |
T |
C |
3: 95,047,307 (GRCm39) |
*185W |
probably null |
Het |
| Tpst2 |
A |
G |
5: 112,457,560 (GRCm39) |
E296G |
possibly damaging |
Het |
| Ubn2 |
T |
A |
6: 38,467,688 (GRCm39) |
S801T |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,332,638 (GRCm39) |
S1141G |
|
Het |
| Uts2r |
A |
G |
11: 121,052,279 (GRCm39) |
N381S |
probably benign |
Het |
| Vmn2r44 |
G |
T |
7: 8,381,314 (GRCm39) |
T193K |
possibly damaging |
Het |
| Wdr18 |
T |
A |
10: 79,801,884 (GRCm39) |
M223K |
probably benign |
Het |
| Wdr64 |
T |
C |
1: 175,617,564 (GRCm39) |
C715R |
possibly damaging |
Het |
| Zfp672 |
A |
G |
11: 58,208,081 (GRCm39) |
F80S |
possibly damaging |
Het |
|
| Other mutations in Gapdh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00272:Gapdh
|
APN |
6 |
125,139,470 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2203:Gapdh
|
UTSW |
6 |
125,139,569 (GRCm39) |
missense |
probably benign |
0.18 |
|
R3195:Gapdh
|
UTSW |
6 |
125,139,583 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4181:Gapdh
|
UTSW |
6 |
125,142,197 (GRCm39) |
intron |
probably benign |
|
|
R4480:Gapdh
|
UTSW |
6 |
125,140,145 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5934:Gapdh
|
UTSW |
6 |
125,139,664 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6019:Gapdh
|
UTSW |
6 |
125,139,996 (GRCm39) |
nonsense |
probably null |
|
|
R6034:Gapdh
|
UTSW |
6 |
125,142,261 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6212:Gapdh
|
UTSW |
6 |
125,139,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6776:Gapdh
|
UTSW |
6 |
125,139,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6928:Gapdh
|
UTSW |
6 |
125,139,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7188:Gapdh
|
UTSW |
6 |
125,142,403 (GRCm39) |
intron |
probably benign |
|
|
R7330:Gapdh
|
UTSW |
6 |
125,139,900 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8027:Gapdh
|
UTSW |
6 |
125,139,331 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8343:Gapdh
|
UTSW |
6 |
125,140,226 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8737:Gapdh
|
UTSW |
6 |
125,139,017 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9304:Gapdh
|
UTSW |
6 |
125,139,819 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGAAGGGTCCACTCATGGC -3'
(R):5'- TGGAGTCTACTGGTGTCTTCAC -3'
Sequencing Primer
(F):5'- TCCACTCATGGCAGGGTAAG -3'
(R):5'- GTGTCTTCACCACCATGGAG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation