Incidental Mutation 'IGL02878:Gapdhs'
| ID |
362729 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gapdhs
|
| Ensembl Gene |
ENSMUSG00000061099 |
| Gene Name |
glyceraldehyde-3-phosphate dehydrogenase, spermatogenic |
| Synonyms |
Gapd-s, Gapds |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
IGL02878
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
30429204-30443106 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 30429304 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146918
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005692]
[ENSMUST00000006478]
[ENSMUST00000074758]
[ENSMUST00000170371]
[ENSMUST00000182067]
[ENSMUST00000209065]
[ENSMUST00000208169]
[ENSMUST00000207263]
[ENSMUST00000207296]
[ENSMUST00000207779]
[ENSMUST00000182634]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005692
|
| SMART Domains |
Protein: ENSMUSP00000005692
Gene: ENSMUSG00000005553
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:H-K_ATPase_N
|
2 |
42 |
5.4e-23 |
PFAM |
|
Cation_ATPase_N
|
52 |
126 |
2.26e-18 |
SMART |
|
Pfam:E1-E2_ATPase
|
144 |
375 |
1.1e-57 |
PFAM |
|
Pfam:Hydrolase
|
380 |
739 |
5.3e-16 |
PFAM |
|
Pfam:HAD
|
383 |
736 |
1.9e-18 |
PFAM |
|
Pfam:Cation_ATPase
|
436 |
531 |
1.6e-24 |
PFAM |
|
Pfam:Cation_ATPase_C
|
809 |
1019 |
4.8e-43 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006478
|
| SMART Domains |
Protein: ENSMUSP00000006478
Gene: ENSMUSG00000006315
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2053
|
2 |
158 |
3.1e-69 |
PFAM |
|
transmembrane domain
|
168 |
190 |
N/A |
INTRINSIC |
|
transmembrane domain
|
197 |
219 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074758
|
| SMART Domains |
Protein: ENSMUSP00000074317
Gene: ENSMUSG00000061099
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
46 |
N/A |
INTRINSIC |
|
Gp_dh_N
|
106 |
254 |
6.13e-79 |
SMART |
|
Pfam:Gp_dh_C
|
259 |
416 |
2.3e-75 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165410
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170371
|
| SMART Domains |
Protein: ENSMUSP00000131964
Gene: ENSMUSG00000005553
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:H-K_ATPase_N
|
2 |
42 |
4.9e-28 |
PFAM |
|
Cation_ATPase_N
|
52 |
126 |
2.26e-18 |
SMART |
|
Pfam:E1-E2_ATPase
|
145 |
376 |
1e-62 |
PFAM |
|
Pfam:Hydrolase
|
380 |
730 |
9.3e-25 |
PFAM |
|
Pfam:HAD
|
383 |
727 |
2.1e-15 |
PFAM |
|
Pfam:Hydrolase_like2
|
436 |
531 |
4e-25 |
PFAM |
|
Pfam:Cation_ATPase_C
|
800 |
1010 |
1.5e-42 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180820
|
| SMART Domains |
Protein: ENSMUSP00000137757
Gene: ENSMUSG00000097320
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1i7oa2
|
53 |
93 |
5e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182067
|
| SMART Domains |
Protein: ENSMUSP00000138697
Gene: ENSMUSG00000061099
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2VYV|D
|
1 |
44 |
3e-15 |
PDB |
|
Blast:Gp_dh_N
|
4 |
33 |
9e-7 |
BLAST |
|
SCOP:d1cf2o2
|
9 |
45 |
3e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209065
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182488
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208169
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183194
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207263
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207296
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207779
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207955
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182634
|
| SMART Domains |
Protein: ENSMUSP00000138634
Gene: ENSMUSG00000061099
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
48 |
N/A |
INTRINSIC |
|
Gp_dh_N
|
108 |
256 |
6.13e-79 |
SMART |
|
Pfam:Gp_dh_C
|
261 |
418 |
4.4e-77 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the glyceraldehyde-3-phosphate dehydrogenase family of enzymes that play an important role in carbohydrate metabolism. Like its somatic cell counterpart, this sperm-specific enzyme functions in a nicotinamide adenine dinucleotide-dependent manner to remove hydrogen and add phosphate to glyceraldehyde 3-phosphate to form 1,3-diphosphoglycerate. During spermiogenesis, this enzyme may play an important role in regulating the switch between different energy-producing pathways, and it is required for sperm motility and male fertility. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display male infertility and asthenozoospermia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,029,155 (GRCm39) |
D801G |
probably benign |
Het |
| Abce1 |
T |
C |
8: 80,429,636 (GRCm39) |
H95R |
possibly damaging |
Het |
| Axl |
T |
A |
7: 25,458,302 (GRCm39) |
M818L |
probably damaging |
Het |
| Cckbr |
C |
T |
7: 105,083,238 (GRCm39) |
A147V |
probably damaging |
Het |
| Cdc40 |
T |
C |
10: 40,719,118 (GRCm39) |
D337G |
probably damaging |
Het |
| Cep70 |
T |
C |
9: 99,163,160 (GRCm39) |
|
probably benign |
Het |
| Cpeb1 |
C |
T |
7: 81,007,074 (GRCm39) |
V318I |
probably damaging |
Het |
| Crlf1 |
G |
A |
8: 70,956,290 (GRCm39) |
|
probably null |
Het |
| Dnah6 |
A |
T |
6: 73,009,570 (GRCm39) |
D3740E |
probably benign |
Het |
| Dnajc28 |
C |
T |
16: 91,413,329 (GRCm39) |
R329Q |
possibly damaging |
Het |
| Ehmt2 |
T |
C |
17: 35,129,743 (GRCm39) |
Y946H |
probably damaging |
Het |
| Gpr61 |
A |
T |
3: 108,057,344 (GRCm39) |
L439H |
probably damaging |
Het |
| Klf9 |
G |
T |
19: 23,119,633 (GRCm39) |
|
probably benign |
Het |
| Krt73 |
T |
C |
15: 101,707,261 (GRCm39) |
Y309C |
probably damaging |
Het |
| Lrrk1 |
T |
C |
7: 65,912,311 (GRCm39) |
M1750V |
probably benign |
Het |
| Mc1r |
G |
T |
8: 124,134,369 (GRCm39) |
G41C |
probably damaging |
Het |
| Mecr |
C |
A |
4: 131,582,019 (GRCm39) |
A133E |
probably damaging |
Het |
| Mon2 |
T |
C |
10: 122,842,896 (GRCm39) |
N1511S |
probably benign |
Het |
| Mrpl13 |
A |
T |
15: 55,403,595 (GRCm39) |
L106* |
probably null |
Het |
| Mrpl48 |
A |
T |
7: 100,223,720 (GRCm39) |
V1E |
possibly damaging |
Het |
| Myo1c |
T |
A |
11: 75,559,859 (GRCm39) |
W683R |
possibly damaging |
Het |
| Myo9a |
G |
A |
9: 59,815,583 (GRCm39) |
|
probably null |
Het |
| Myrfl |
A |
T |
10: 116,613,310 (GRCm39) |
I831K |
possibly damaging |
Het |
| Neurl4 |
T |
A |
11: 69,797,657 (GRCm39) |
Y671N |
probably damaging |
Het |
| Opalin |
A |
T |
19: 41,056,108 (GRCm39) |
D62E |
probably benign |
Het |
| Or1j18 |
A |
T |
2: 36,624,489 (GRCm39) |
D52V |
probably damaging |
Het |
| Or7a41 |
G |
T |
10: 78,871,392 (GRCm39) |
C254F |
probably benign |
Het |
| Otoa |
T |
C |
7: 120,743,076 (GRCm39) |
F768L |
probably damaging |
Het |
| Pde4b |
T |
A |
4: 102,458,836 (GRCm39) |
N497K |
probably damaging |
Het |
| Plcl2 |
T |
A |
17: 50,914,383 (GRCm39) |
L464Q |
probably damaging |
Het |
| Rfc3 |
A |
G |
5: 151,566,379 (GRCm39) |
*357R |
probably null |
Het |
| Ryr2 |
A |
G |
13: 11,933,205 (GRCm39) |
S89P |
probably benign |
Het |
| Sema3b |
C |
T |
9: 107,478,192 (GRCm39) |
V398I |
probably damaging |
Het |
| Setd3 |
A |
G |
12: 108,074,814 (GRCm39) |
|
probably null |
Het |
| Sgsh |
T |
C |
11: 119,237,384 (GRCm39) |
D410G |
probably damaging |
Het |
| Slc9a3 |
G |
T |
13: 74,313,476 (GRCm39) |
E730* |
probably null |
Het |
| Sptb |
A |
G |
12: 76,667,527 (GRCm39) |
S857P |
probably benign |
Het |
| Tmem132c |
T |
C |
5: 127,640,154 (GRCm39) |
L775P |
probably damaging |
Het |
| Togaram1 |
T |
C |
12: 65,039,400 (GRCm39) |
V1158A |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,607,222 (GRCm39) |
F17934L |
probably damaging |
Het |
| Ube3b |
T |
C |
5: 114,542,778 (GRCm39) |
|
probably null |
Het |
| Ydjc |
A |
G |
16: 16,965,469 (GRCm39) |
E111G |
possibly damaging |
Het |
| Zp3r |
T |
A |
1: 130,510,588 (GRCm39) |
H443L |
probably benign |
Het |
|
| Other mutations in Gapdhs |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01611:Gapdhs
|
APN |
7 |
30,429,866 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01667:Gapdhs
|
APN |
7 |
30,436,062 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02860:Gapdhs
|
APN |
7 |
30,429,308 (GRCm39) |
splice site |
probably null |
|
|
IGL03372:Gapdhs
|
APN |
7 |
30,432,674 (GRCm39) |
unclassified |
probably benign |
|
|
R1662:Gapdhs
|
UTSW |
7 |
30,436,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2255:Gapdhs
|
UTSW |
7 |
30,429,333 (GRCm39) |
splice site |
probably null |
|
|
R4941:Gapdhs
|
UTSW |
7 |
30,432,691 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5059:Gapdhs
|
UTSW |
7 |
30,431,410 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5877:Gapdhs
|
UTSW |
7 |
30,431,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7571:Gapdhs
|
UTSW |
7 |
30,437,383 (GRCm39) |
missense |
unknown |
|
|
R7622:Gapdhs
|
UTSW |
7 |
30,438,756 (GRCm39) |
missense |
unknown |
|
|
R7714:Gapdhs
|
UTSW |
7 |
30,431,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7902:Gapdhs
|
UTSW |
7 |
30,436,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8410:Gapdhs
|
UTSW |
7 |
30,437,335 (GRCm39) |
missense |
unknown |
|
|
R8954:Gapdhs
|
UTSW |
7 |
30,432,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9477:Gapdhs
|
UTSW |
7 |
30,431,682 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-12-18 |
Incidental Mutation