Incidental Mutation 'IGL01134:Gda'
| ID |
53288 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gda
|
| Ensembl Gene |
ENSMUSG00000058624 |
| Gene Name |
guanine deaminase |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01134
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
21368671-21450025 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21394429 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 143
(S143P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112758
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087600]
[ENSMUST00000121725]
|
| AlphaFold |
Q9R111 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087600
AA Change: S217P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000084882
Gene: ENSMUSG00000058624
AA Change: S217P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Amidohydro_1
|
73 |
447 |
6.8e-78 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121725
AA Change: S143P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112758
Gene: ENSMUSG00000058624
AA Change: S143P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Amidohydro_1
|
1 |
327 |
5.9e-46 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136258
|
| 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 an enzyme responsible for the hydrolytic deamination of guanine. Studies in rat ortholog suggest this gene plays a role in microtubule assembly. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| Acaca |
T |
G |
11: 84,142,105 (GRCm39) |
H637Q |
probably benign |
Het |
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Akap6 |
C |
A |
12: 52,984,000 (GRCm39) |
A848E |
probably damaging |
Het |
| Cxxc4 |
A |
G |
3: 133,946,420 (GRCm39) |
I334V |
probably null |
Het |
| Cyp2b13 |
T |
A |
7: 25,781,125 (GRCm39) |
I179N |
probably damaging |
Het |
| Cyp2d40 |
C |
A |
15: 82,645,102 (GRCm39) |
A183S |
unknown |
Het |
| Cyp2g1 |
A |
G |
7: 26,509,256 (GRCm39) |
N110S |
probably benign |
Het |
| F5 |
A |
T |
1: 164,019,548 (GRCm39) |
R674S |
possibly damaging |
Het |
| Fnip2 |
G |
T |
3: 79,419,810 (GRCm39) |
Y155* |
probably null |
Het |
| Fut9 |
G |
T |
4: 25,620,446 (GRCm39) |
Q123K |
probably benign |
Het |
| Gpr162 |
T |
C |
6: 124,835,820 (GRCm39) |
|
probably null |
Het |
| Hsf2bp |
A |
G |
17: 32,206,378 (GRCm39) |
L251S |
probably damaging |
Het |
| Hsh2d |
A |
T |
8: 72,947,375 (GRCm39) |
D24V |
probably damaging |
Het |
| Htr1f |
T |
A |
16: 64,746,501 (GRCm39) |
T264S |
probably benign |
Het |
| Med12l |
G |
A |
3: 58,949,696 (GRCm39) |
E151K |
possibly damaging |
Het |
| Mgat3 |
C |
A |
15: 80,096,377 (GRCm39) |
N401K |
probably benign |
Het |
| Mmp27 |
T |
G |
9: 7,573,298 (GRCm39) |
M130R |
probably benign |
Het |
| Mroh2b |
T |
A |
15: 4,944,634 (GRCm39) |
S412T |
probably benign |
Het |
| Mrps9 |
A |
G |
1: 42,942,557 (GRCm39) |
I338M |
probably damaging |
Het |
| Mtmr4 |
C |
T |
11: 87,494,893 (GRCm39) |
T395M |
probably damaging |
Het |
| Nlrp9b |
A |
G |
7: 19,757,112 (GRCm39) |
I116M |
probably benign |
Het |
| Nqo1 |
T |
C |
8: 108,115,587 (GRCm39) |
D230G |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 126,589,889 (GRCm39) |
V795I |
probably benign |
Het |
| Pde8a |
G |
A |
7: 80,968,826 (GRCm39) |
R449Q |
possibly damaging |
Het |
| Scn9a |
A |
G |
2: 66,335,312 (GRCm39) |
Y1226H |
probably damaging |
Het |
| Sema3e |
A |
G |
5: 14,302,784 (GRCm39) |
R770G |
probably damaging |
Het |
| Smr2 |
T |
C |
5: 88,256,378 (GRCm39) |
S19P |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,220,849 (GRCm39) |
S2529P |
probably benign |
Het |
| Uspl1 |
T |
A |
5: 149,141,103 (GRCm39) |
F367L |
probably damaging |
Het |
| Vps41 |
A |
G |
13: 19,050,320 (GRCm39) |
S838G |
probably benign |
Het |
| Ythdf2 |
A |
T |
4: 131,932,789 (GRCm39) |
F124I |
probably damaging |
Het |
|
| Other mutations in Gda |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01324:Gda
|
APN |
19 |
21,387,250 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02814:Gda
|
APN |
19 |
21,405,839 (GRCm39) |
splice site |
probably null |
|
|
IGL03037:Gda
|
APN |
19 |
21,411,673 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03274:Gda
|
APN |
19 |
21,394,371 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0106:Gda
|
UTSW |
19 |
21,374,920 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0106:Gda
|
UTSW |
19 |
21,374,920 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0312:Gda
|
UTSW |
19 |
21,394,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0432:Gda
|
UTSW |
19 |
21,394,471 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0529:Gda
|
UTSW |
19 |
21,402,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0600:Gda
|
UTSW |
19 |
21,411,667 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0690:Gda
|
UTSW |
19 |
21,387,251 (GRCm39) |
missense |
probably benign |
|
|
R1522:Gda
|
UTSW |
19 |
21,389,903 (GRCm39) |
missense |
probably benign |
|
|
R1652:Gda
|
UTSW |
19 |
21,378,042 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1917:Gda
|
UTSW |
19 |
21,375,004 (GRCm39) |
splice site |
probably benign |
|
|
R2078:Gda
|
UTSW |
19 |
21,378,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2153:Gda
|
UTSW |
19 |
21,374,869 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3951:Gda
|
UTSW |
19 |
21,449,809 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4707:Gda
|
UTSW |
19 |
21,405,992 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5554:Gda
|
UTSW |
19 |
21,405,837 (GRCm39) |
splice site |
probably null |
|
|
R5620:Gda
|
UTSW |
19 |
21,374,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7186:Gda
|
UTSW |
19 |
21,372,569 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7386:Gda
|
UTSW |
19 |
21,387,250 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7408:Gda
|
UTSW |
19 |
21,405,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8315:Gda
|
UTSW |
19 |
21,394,435 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8743:Gda
|
UTSW |
19 |
21,377,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8846:Gda
|
UTSW |
19 |
21,389,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9711:Gda
|
UTSW |
19 |
21,400,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation