Incidental Mutation 'R2203:Gapdh'
| ID |
238834 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gapdh
|
| Ensembl Gene |
ENSMUSG00000057666 |
| Gene Name |
glyceraldehyde-3-phosphate dehydrogenase |
| Synonyms |
Gapd, Gapd |
| MMRRC Submission |
040205-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2203 (G1)
|
| Quality Score |
144 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
125138812-125143450 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 125139569 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 165
(S165T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138508
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073605]
[ENSMUST00000117675]
[ENSMUST00000117757]
[ENSMUST00000118875]
[ENSMUST00000119527]
[ENSMUST00000183272]
[ENSMUST00000182277]
[ENSMUST00000144364]
[ENSMUST00000182052]
|
| AlphaFold |
P16858 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073605
AA Change: S208T
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000073289
Gene: ENSMUSG00000057666
AA Change: S208T
| 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 benign
Transcript: ENSMUST00000117757
AA Change: S234T
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000113942
Gene: ENSMUSG00000057666
AA Change: S234T
| 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 benign
Transcript: ENSMUST00000118875
AA Change: S208T
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000113213
Gene: ENSMUSG00000057666
AA Change: S208T
| 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 |
noncoding transcript
Transcript: ENSMUST00000135559
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139071
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183272
AA Change: S165T
PolyPhen 2
Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000138508
Gene: ENSMUSG00000057666
AA Change: S165T
| Domain | Start | End | E-Value | Type |
|---|
|
Gp_dh_N
|
2 |
107 |
7.93e-64 |
SMART |
|
Pfam:Gp_dh_C
|
112 |
269 |
3e-76 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182670
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182464
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182115
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147954
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141230
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150474
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192506
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144205
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144588
|
| 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 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
G |
A |
4: 53,090,291 (GRCm39) |
T386I |
probably damaging |
Het |
| Abcc5 |
C |
G |
16: 20,224,632 (GRCm39) |
L44F |
possibly damaging |
Het |
| Abi3bp |
T |
G |
16: 56,433,566 (GRCm39) |
L550R |
probably benign |
Het |
| Brca2 |
T |
A |
5: 150,462,967 (GRCm39) |
D910E |
possibly damaging |
Het |
| Cacna1h |
C |
T |
17: 25,599,234 (GRCm39) |
A1742T |
probably damaging |
Het |
| Cartpt |
A |
T |
13: 100,037,133 (GRCm39) |
S4T |
probably benign |
Het |
| Ccdc66 |
T |
A |
14: 27,208,790 (GRCm39) |
D488V |
probably benign |
Het |
| Cdan1 |
C |
A |
2: 120,551,241 (GRCm39) |
C1093F |
probably damaging |
Het |
| Cfap45 |
T |
C |
1: 172,359,728 (GRCm39) |
V76A |
probably benign |
Het |
| Clptm1 |
G |
T |
7: 19,367,817 (GRCm39) |
F598L |
possibly damaging |
Het |
| Cntrl |
G |
A |
2: 35,033,749 (GRCm39) |
V257I |
possibly damaging |
Het |
| Cpa1 |
A |
G |
6: 30,641,818 (GRCm39) |
D214G |
probably damaging |
Het |
| Crebbp |
A |
C |
16: 3,956,641 (GRCm39) |
M394R |
possibly damaging |
Het |
| Ctnnd1 |
A |
G |
2: 84,447,024 (GRCm39) |
L407P |
probably damaging |
Het |
| Cttnbp2 |
T |
G |
6: 18,408,693 (GRCm39) |
D976A |
probably benign |
Het |
| Dicer1 |
C |
T |
12: 104,697,297 (GRCm39) |
V87M |
possibly damaging |
Het |
| Elapor1 |
C |
T |
3: 108,382,359 (GRCm39) |
G270E |
probably damaging |
Het |
| Fam184a |
T |
A |
10: 53,528,530 (GRCm39) |
Q29L |
probably damaging |
Het |
| Flnc |
C |
T |
6: 29,459,507 (GRCm39) |
P2536S |
probably damaging |
Het |
| Gm6370 |
T |
A |
5: 146,430,539 (GRCm39) |
D241E |
probably benign |
Het |
| Grik4 |
T |
A |
9: 42,458,951 (GRCm39) |
S596C |
probably damaging |
Het |
| Gtf2e1 |
T |
A |
16: 37,331,904 (GRCm39) |
E390D |
possibly damaging |
Het |
| Hmgcr |
A |
G |
13: 96,793,141 (GRCm39) |
L497P |
probably damaging |
Het |
| Hmgcs2 |
T |
A |
3: 98,198,499 (GRCm39) |
I134N |
probably damaging |
Het |
| Htr5b |
T |
C |
1: 121,455,693 (GRCm39) |
T76A |
probably damaging |
Het |
| Iars1 |
A |
G |
13: 49,876,151 (GRCm39) |
E812G |
probably benign |
Het |
| Ints8 |
A |
T |
4: 11,225,712 (GRCm39) |
M615K |
possibly damaging |
Het |
| Jmjd1c |
A |
G |
10: 67,075,242 (GRCm39) |
|
probably null |
Het |
| Kcnj5 |
T |
C |
9: 32,234,196 (GRCm39) |
T40A |
probably benign |
Het |
| Knstrn |
T |
A |
2: 118,661,456 (GRCm39) |
|
probably null |
Het |
| Map2k2 |
T |
C |
10: 80,955,213 (GRCm39) |
S14P |
probably damaging |
Het |
| Med26 |
T |
C |
8: 73,249,746 (GRCm39) |
E451G |
probably damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,323,165 (GRCm39) |
M2081K |
probably benign |
Het |
| Nectin4 |
G |
A |
1: 171,213,797 (GRCm39) |
V433M |
possibly damaging |
Het |
| Nop56 |
T |
A |
2: 130,119,488 (GRCm39) |
I51N |
probably damaging |
Het |
| Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
| Nudt5 |
A |
T |
2: 5,860,794 (GRCm39) |
I22F |
possibly damaging |
Het |
| Or4p23 |
C |
G |
2: 88,576,953 (GRCm39) |
G93A |
probably benign |
Het |
| Pbrm1 |
A |
G |
14: 30,754,406 (GRCm39) |
D142G |
possibly damaging |
Het |
| Pdcl |
A |
T |
2: 37,242,056 (GRCm39) |
N231K |
probably benign |
Het |
| Pkd1 |
G |
T |
17: 24,799,863 (GRCm39) |
A591S |
probably benign |
Het |
| Plcb4 |
T |
C |
2: 135,844,514 (GRCm39) |
I144T |
probably benign |
Het |
| Prrc2b |
C |
A |
2: 32,113,476 (GRCm39) |
Q1970K |
probably damaging |
Het |
| Rabep1 |
A |
C |
11: 70,825,400 (GRCm39) |
E689A |
probably damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,659,585 (GRCm39) |
|
probably null |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Saxo1 |
A |
C |
4: 86,363,998 (GRCm39) |
Y162D |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Sipa1l2 |
A |
T |
8: 126,218,366 (GRCm39) |
W324R |
probably damaging |
Het |
| Slc19a1 |
T |
C |
10: 76,877,758 (GRCm39) |
C98R |
possibly damaging |
Het |
| Slc26a8 |
G |
T |
17: 28,866,981 (GRCm39) |
L583I |
probably benign |
Het |
| Spata31d1d |
A |
G |
13: 59,879,435 (GRCm39) |
C34R |
possibly damaging |
Het |
| Stoml2 |
G |
T |
4: 43,030,243 (GRCm39) |
Y119* |
probably null |
Het |
| Susd1 |
A |
G |
4: 59,349,843 (GRCm39) |
L531P |
possibly damaging |
Het |
| Tnfsf14 |
T |
C |
17: 57,497,638 (GRCm39) |
D198G |
possibly damaging |
Het |
| Ttc39a |
A |
G |
4: 109,288,785 (GRCm39) |
N293S |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,601,985 (GRCm39) |
N18559S |
possibly damaging |
Het |
| Vmn2r104 |
A |
T |
17: 20,250,083 (GRCm39) |
N729K |
probably benign |
Het |
| Zbtb47 |
A |
G |
9: 121,591,703 (GRCm39) |
T8A |
possibly damaging |
Het |
| Zfp712 |
T |
A |
13: 67,190,048 (GRCm39) |
T160S |
probably benign |
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 |
|
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 |
|
R7777:Gapdh
|
UTSW |
6 |
125,139,911 (GRCm39) |
nonsense |
probably null |
|
|
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'- TGTCCCAAGTCACTGTCACAC -3'
(R):5'- GGGGAGACAGCTCATGCATTTC -3'
Sequencing Primer
(F):5'- GTCACTGTCACACCAGAGAC -3'
(R):5'- GGGAGACAGCTCATGCATTTCTTATC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation