Incidental Mutation 'IGL01611:Gapdhs'
| ID |
92130 |
| 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: 0.133)
|
| Stock # |
IGL01611
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
30429204-30443106 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 30429866 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]
[ENSMUST00000182634]
[ENSMUST00000207779]
[ENSMUST00000209065]
[ENSMUST00000208169]
[ENSMUST00000207296]
[ENSMUST00000207263]
|
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000182488
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207779
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207955
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209065
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208169
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207296
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207263
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
A |
G |
12: 72,954,644 (GRCm39) |
L209S |
possibly damaging |
Het |
| Abcc2 |
G |
T |
19: 43,815,068 (GRCm39) |
V1152F |
probably damaging |
Het |
| Adam9 |
C |
T |
8: 25,457,212 (GRCm39) |
V639I |
probably benign |
Het |
| Cdc6 |
A |
G |
11: 98,805,989 (GRCm39) |
I388V |
probably benign |
Het |
| Chrm5 |
C |
T |
2: 112,310,651 (GRCm39) |
W155* |
probably null |
Het |
| Chrna9 |
A |
G |
5: 66,128,287 (GRCm39) |
D161G |
probably damaging |
Het |
| Det1 |
A |
G |
7: 78,477,702 (GRCm39) |
V541A |
possibly damaging |
Het |
| Efhc1 |
G |
T |
1: 21,060,911 (GRCm39) |
*649L |
probably null |
Het |
| Ehbp1 |
C |
T |
11: 22,122,883 (GRCm39) |
V146M |
probably damaging |
Het |
| Enam |
A |
C |
5: 88,651,608 (GRCm39) |
D1039A |
probably damaging |
Het |
| Fam20b |
A |
T |
1: 156,530,035 (GRCm39) |
V133E |
probably benign |
Het |
| Frem2 |
T |
A |
3: 53,563,130 (GRCm39) |
Q459L |
probably benign |
Het |
| Gm3404 |
T |
A |
5: 146,465,157 (GRCm39) |
V299D |
possibly damaging |
Het |
| Gorasp2 |
C |
A |
2: 70,519,604 (GRCm39) |
H310N |
possibly damaging |
Het |
| Gpr157 |
T |
C |
4: 150,186,094 (GRCm39) |
S219P |
possibly damaging |
Het |
| Gpt2 |
T |
A |
8: 86,246,167 (GRCm39) |
C375* |
probably null |
Het |
| Gtf2h3 |
T |
C |
5: 124,733,748 (GRCm39) |
S274P |
probably damaging |
Het |
| Hmg20b |
C |
T |
10: 81,183,309 (GRCm39) |
V83M |
probably benign |
Het |
| Igf2r |
G |
T |
17: 12,944,302 (GRCm39) |
Y400* |
probably null |
Het |
| Ipo9 |
A |
T |
1: 135,314,431 (GRCm39) |
W942R |
possibly damaging |
Het |
| Iqch |
T |
C |
9: 63,403,519 (GRCm39) |
|
probably null |
Het |
| Kcnh3 |
T |
C |
15: 99,127,383 (GRCm39) |
L393P |
probably benign |
Het |
| Kcnk12 |
T |
A |
17: 88,104,495 (GRCm39) |
I130L |
probably benign |
Het |
| Lcorl |
T |
C |
5: 45,904,434 (GRCm39) |
T205A |
probably damaging |
Het |
| Lpar6 |
G |
T |
14: 73,476,878 (GRCm39) |
A280S |
probably damaging |
Het |
| Mgarp |
A |
T |
3: 51,296,570 (GRCm39) |
V152E |
probably damaging |
Het |
| Pard3b |
A |
G |
1: 62,677,021 (GRCm39) |
D1184G |
probably damaging |
Het |
| Pcnt |
A |
G |
10: 76,272,258 (GRCm39) |
|
probably null |
Het |
| Pde6b |
A |
G |
5: 108,551,262 (GRCm39) |
N182S |
possibly damaging |
Het |
| Pom121 |
T |
C |
5: 135,412,526 (GRCm39) |
K516E |
unknown |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Ptpn18 |
T |
C |
1: 34,498,898 (GRCm39) |
|
probably benign |
Het |
| Rapgef5 |
C |
T |
12: 117,717,154 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,606,202 (GRCm39) |
L4460S |
possibly damaging |
Het |
| Sema6b |
T |
C |
17: 56,436,969 (GRCm39) |
|
probably null |
Het |
| Serpinb6d |
T |
A |
13: 33,850,375 (GRCm39) |
C67* |
probably null |
Het |
| Sorbs2 |
T |
G |
8: 46,248,381 (GRCm39) |
V510G |
probably null |
Het |
| Spic |
T |
A |
10: 88,511,864 (GRCm39) |
I131F |
possibly damaging |
Het |
| Spire2 |
T |
C |
8: 124,086,137 (GRCm39) |
S290P |
probably damaging |
Het |
| Tas2r117 |
C |
T |
6: 132,780,447 (GRCm39) |
S195F |
probably benign |
Het |
| Tas2r117 |
T |
C |
6: 132,780,450 (GRCm39) |
V196A |
probably damaging |
Het |
| Tff1 |
C |
T |
17: 31,381,703 (GRCm39) |
G58D |
probably damaging |
Het |
| Tmprss11g |
T |
C |
5: 86,638,640 (GRCm39) |
T283A |
probably benign |
Het |
| Toporsl |
T |
A |
4: 52,610,794 (GRCm39) |
L229H |
probably damaging |
Het |
| Vmn2r80 |
G |
A |
10: 79,007,488 (GRCm39) |
G488D |
probably damaging |
Het |
| Vps54 |
T |
A |
11: 21,261,082 (GRCm39) |
V583D |
probably damaging |
Het |
| Vwa1 |
T |
C |
4: 155,855,255 (GRCm39) |
E286G |
possibly damaging |
Het |
| Vwde |
A |
T |
6: 13,219,977 (GRCm39) |
I58N |
probably damaging |
Het |
| Zbtb11 |
T |
C |
16: 55,800,973 (GRCm39) |
V109A |
probably damaging |
Het |
| Zfp319 |
C |
T |
8: 96,055,540 (GRCm39) |
R221Q |
probably benign |
Het |
|
| Other mutations in Gapdhs |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2013-12-09 |
Incidental Mutation