Incidental Mutation 'IGL03274:Gda'
| ID |
415347 |
| 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 # |
IGL03274
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
21368671-21450025 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21394371 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 236
(Y236C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087600]
[ENSMUST00000121725]
|
| AlphaFold |
Q9R111 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087600
AA Change: Y236C
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000084882
Gene: ENSMUSG00000058624
AA Change: Y236C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Amidohydro_1
|
73 |
447 |
6.8e-78 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121725
AA Change: Y162C
PolyPhen 2
Score 0.723 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000112758
Gene: ENSMUSG00000058624
AA Change: Y162C
| 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 |
|---|
| Adissp |
A |
T |
2: 130,995,512 (GRCm39) |
|
probably null |
Het |
| Anln |
C |
A |
9: 22,293,565 (GRCm39) |
R26M |
probably damaging |
Het |
| Capn15 |
A |
T |
17: 26,180,812 (GRCm39) |
S753T |
probably damaging |
Het |
| Ccdc62 |
A |
G |
5: 124,092,743 (GRCm39) |
N576S |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,508,900 (GRCm39) |
D2895G |
probably damaging |
Het |
| Dspp |
T |
A |
5: 104,322,814 (GRCm39) |
V37E |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,611,919 (GRCm39) |
D587V |
probably benign |
Het |
| Efcab6 |
T |
C |
15: 83,752,450 (GRCm39) |
D1473G |
probably damaging |
Het |
| Ehhadh |
T |
C |
16: 21,582,090 (GRCm39) |
|
probably benign |
Het |
| Fbln1 |
T |
C |
15: 85,116,879 (GRCm39) |
|
probably null |
Het |
| Gbp9 |
A |
G |
5: 105,230,652 (GRCm39) |
V424A |
possibly damaging |
Het |
| Gm4884 |
A |
G |
7: 40,693,969 (GRCm39) |
E646G |
probably damaging |
Het |
| Gm4952 |
C |
A |
19: 12,600,960 (GRCm39) |
|
probably benign |
Het |
| Gm5422 |
G |
T |
10: 31,126,348 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2b |
C |
T |
6: 135,757,253 (GRCm39) |
D403N |
possibly damaging |
Het |
| Hsf2bp |
G |
A |
17: 32,226,744 (GRCm39) |
R204C |
probably damaging |
Het |
| Il16 |
T |
C |
7: 83,310,442 (GRCm39) |
E488G |
probably damaging |
Het |
| Kat6b |
G |
T |
14: 21,659,831 (GRCm39) |
D212Y |
possibly damaging |
Het |
| Kctd2 |
A |
C |
11: 115,320,208 (GRCm39) |
I247L |
possibly damaging |
Het |
| Kel |
T |
A |
6: 41,664,929 (GRCm39) |
|
probably null |
Het |
| Krt20 |
A |
T |
11: 99,320,855 (GRCm39) |
|
probably benign |
Het |
| Litaf |
T |
C |
16: 10,784,433 (GRCm39) |
T26A |
probably damaging |
Het |
| N4bp2l2 |
G |
T |
5: 150,584,931 (GRCm39) |
Q350K |
probably damaging |
Het |
| Nav2 |
T |
G |
7: 49,011,847 (GRCm39) |
I26S |
probably damaging |
Het |
| Nfya |
A |
G |
17: 48,698,375 (GRCm39) |
Y162H |
probably damaging |
Het |
| Or2g25 |
C |
T |
17: 37,970,646 (GRCm39) |
A193T |
probably benign |
Het |
| Pbx4 |
A |
T |
8: 70,319,200 (GRCm39) |
S244C |
probably damaging |
Het |
| Pcdhb16 |
T |
C |
18: 37,612,285 (GRCm39) |
V415A |
probably benign |
Het |
| Rbbp8 |
A |
G |
18: 11,874,133 (GRCm39) |
|
probably benign |
Het |
| Sp100 |
T |
C |
1: 85,635,025 (GRCm39) |
|
probably benign |
Het |
| Spag16 |
A |
G |
1: 69,883,540 (GRCm39) |
|
probably benign |
Het |
| Star |
A |
G |
8: 26,301,082 (GRCm39) |
D138G |
possibly damaging |
Het |
|
| Other mutations in Gda |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01134:Gda
|
APN |
19 |
21,394,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation