Incidental Mutation 'IGL01667:Gapdhs'
| ID |
103335 |
| 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 # |
IGL01667
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
30429204-30443106 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 30436062 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 174
(E174V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074317
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074758]
[ENSMUST00000182067]
[ENSMUST00000182634]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074758
AA Change: E174V
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000074317
Gene: ENSMUSG00000061099
AA Change: E174V
| 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: 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 |
noncoding transcript
Transcript: ENSMUST00000182488
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182634
AA Change: E176V
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000138634
Gene: ENSMUSG00000061099
AA Change: E176V
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182686
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183194
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
A |
G |
7: 75,219,767 (GRCm39) |
T57A |
probably damaging |
Het |
| Akna |
G |
T |
4: 63,297,396 (GRCm39) |
T886N |
probably benign |
Het |
| Aqp9 |
A |
G |
9: 71,045,495 (GRCm39) |
V38A |
probably benign |
Het |
| Awat2 |
C |
T |
X: 99,447,860 (GRCm39) |
G124D |
probably damaging |
Het |
| Camsap1 |
A |
G |
2: 25,835,293 (GRCm39) |
|
probably benign |
Het |
| Catsperg2 |
T |
C |
7: 29,409,558 (GRCm39) |
Y545C |
probably damaging |
Het |
| Cldn23 |
A |
G |
8: 36,293,074 (GRCm39) |
F138S |
possibly damaging |
Het |
| Clec4a3 |
A |
C |
6: 122,929,819 (GRCm39) |
|
probably benign |
Het |
| Dlgap3 |
C |
A |
4: 127,127,690 (GRCm39) |
T786K |
probably benign |
Het |
| Dnah2 |
A |
C |
11: 69,435,221 (GRCm39) |
S50A |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,411,767 (GRCm39) |
I285N |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,586,451 (GRCm39) |
Y1467H |
probably damaging |
Het |
| Fgf22 |
C |
T |
10: 79,592,588 (GRCm39) |
P115L |
probably damaging |
Het |
| Fzd2 |
G |
T |
11: 102,496,608 (GRCm39) |
V351L |
possibly damaging |
Het |
| Gjc2 |
A |
C |
11: 59,068,344 (GRCm39) |
I46S |
probably damaging |
Het |
| Gm5581 |
T |
C |
6: 131,144,735 (GRCm39) |
|
noncoding transcript |
Het |
| Krt1c |
C |
A |
15: 101,724,765 (GRCm39) |
V282L |
possibly damaging |
Het |
| Myh15 |
G |
A |
16: 49,015,942 (GRCm39) |
V1873M |
probably benign |
Het |
| Myo1b |
T |
C |
1: 51,799,536 (GRCm39) |
T931A |
probably damaging |
Het |
| Myo6 |
A |
T |
9: 80,197,175 (GRCm39) |
K965N |
unknown |
Het |
| Or5a3 |
T |
C |
19: 12,400,120 (GRCm39) |
V149A |
probably benign |
Het |
| Pcnx3 |
T |
C |
19: 5,736,658 (GRCm39) |
R160G |
probably benign |
Het |
| Slc22a16 |
T |
C |
10: 40,461,014 (GRCm39) |
I272T |
probably damaging |
Het |
| Slc35b4 |
A |
G |
6: 34,144,610 (GRCm39) |
Y82H |
possibly damaging |
Het |
| Spdya |
T |
C |
17: 71,863,254 (GRCm39) |
M1T |
probably null |
Het |
| St6gal1 |
A |
G |
16: 23,140,174 (GRCm39) |
N115S |
probably benign |
Het |
| Tbc1d12 |
A |
T |
19: 38,902,744 (GRCm39) |
|
probably benign |
Het |
| Tfrc |
A |
G |
16: 32,443,261 (GRCm39) |
|
probably benign |
Het |
| Trip11 |
A |
C |
12: 101,845,121 (GRCm39) |
F1539C |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,611,422 (GRCm39) |
I15624N |
possibly damaging |
Het |
| Vmn1r169 |
A |
T |
7: 23,277,225 (GRCm39) |
M206L |
probably benign |
Het |
| Zfp362 |
A |
G |
4: 128,680,902 (GRCm39) |
L141P |
probably damaging |
Het |
| Zfp692 |
A |
G |
11: 58,202,379 (GRCm39) |
H378R |
probably damaging |
Het |
| Zfp799 |
T |
C |
17: 33,040,794 (GRCm39) |
Q52R |
possibly damaging |
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 |
|
|
IGL02860:Gapdhs
|
APN |
7 |
30,429,308 (GRCm39) |
splice site |
probably null |
|
|
IGL02878:Gapdhs
|
APN |
7 |
30,429,304 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
2014-01-21 |
Incidental Mutation