Incidental Mutation 'IGL01324:Gda'
| ID |
74154 |
| 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 # |
IGL01324
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
21368671-21450025 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 21387250 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 325
(I325K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087600]
[ENSMUST00000121725]
|
| AlphaFold |
Q9R111 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087600
AA Change: I325K
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000084882
Gene: ENSMUSG00000058624
AA Change: I325K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Amidohydro_1
|
73 |
447 |
6.8e-78 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121725
AA Change: I251K
PolyPhen 2
Score 0.751 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000112758
Gene: ENSMUSG00000058624
AA Change: I251K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Amidohydro_1
|
1 |
327 |
5.9e-46 |
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 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
G |
A |
19: 8,980,396 (GRCm39) |
G560D |
probably damaging |
Het |
| Ap1g1 |
T |
A |
8: 110,559,414 (GRCm39) |
D239E |
possibly damaging |
Het |
| Ap2a1 |
T |
A |
7: 44,555,120 (GRCm39) |
T482S |
probably damaging |
Het |
| BC004004 |
T |
C |
17: 29,501,225 (GRCm39) |
L58P |
probably damaging |
Het |
| Camsap1 |
C |
A |
2: 25,823,635 (GRCm39) |
V1472L |
possibly damaging |
Het |
| Ces3b |
A |
T |
8: 105,819,884 (GRCm39) |
E569V |
probably damaging |
Het |
| Commd6 |
G |
A |
14: 101,877,738 (GRCm39) |
|
probably benign |
Het |
| Ddx54 |
A |
G |
5: 120,761,703 (GRCm39) |
D493G |
probably benign |
Het |
| Dync1h1 |
C |
T |
12: 110,593,299 (GRCm39) |
R1189C |
probably damaging |
Het |
| Ern2 |
T |
A |
7: 121,782,413 (GRCm39) |
I68F |
possibly damaging |
Het |
| Eya4 |
A |
G |
10: 22,992,449 (GRCm39) |
|
probably null |
Het |
| Gmnn |
T |
C |
13: 24,936,105 (GRCm39) |
T190A |
probably benign |
Het |
| Hdac4 |
G |
A |
1: 91,887,137 (GRCm39) |
P801S |
probably damaging |
Het |
| Hnrnph3 |
A |
T |
10: 62,853,903 (GRCm39) |
*72K |
probably null |
Het |
| Hoxd12 |
A |
T |
2: 74,505,480 (GRCm39) |
N17I |
probably damaging |
Het |
| Incenp |
G |
A |
19: 9,861,092 (GRCm39) |
R497C |
unknown |
Het |
| Iqsec1 |
C |
A |
6: 90,666,685 (GRCm39) |
R584L |
probably damaging |
Het |
| Kcnip1 |
A |
G |
11: 33,595,603 (GRCm39) |
M1T |
probably null |
Het |
| Kcnu1 |
T |
A |
8: 26,339,735 (GRCm39) |
S18T |
probably benign |
Het |
| Lepr |
T |
A |
4: 101,625,265 (GRCm39) |
D473E |
probably benign |
Het |
| Nfkbiz |
T |
C |
16: 55,636,167 (GRCm39) |
T564A |
probably damaging |
Het |
| Nsd3 |
C |
T |
8: 26,152,836 (GRCm39) |
T392I |
probably damaging |
Het |
| Or10a5 |
T |
C |
7: 106,636,054 (GRCm39) |
S231P |
probably damaging |
Het |
| Or10w1 |
T |
C |
19: 13,632,297 (GRCm39) |
I163T |
probably damaging |
Het |
| P4ha2 |
A |
G |
11: 54,010,984 (GRCm39) |
D333G |
probably damaging |
Het |
| Parg |
T |
C |
14: 32,018,142 (GRCm39) |
|
probably benign |
Het |
| Psmc2 |
G |
A |
5: 22,005,007 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
A |
G |
11: 119,338,063 (GRCm39) |
Y3354C |
probably damaging |
Het |
| Siglec1 |
T |
G |
2: 130,927,461 (GRCm39) |
D115A |
probably damaging |
Het |
| Slit3 |
G |
T |
11: 35,501,529 (GRCm39) |
G421V |
probably damaging |
Het |
| Srgap3 |
T |
A |
6: 112,716,358 (GRCm39) |
H590L |
probably damaging |
Het |
| Stk36 |
A |
C |
1: 74,664,769 (GRCm39) |
T628P |
possibly damaging |
Het |
| Stx12 |
A |
T |
4: 132,590,576 (GRCm39) |
M107K |
probably benign |
Het |
| Syne2 |
G |
T |
12: 76,090,526 (GRCm39) |
V5105F |
probably damaging |
Het |
| Tecta |
T |
C |
9: 42,256,727 (GRCm39) |
S1650G |
probably damaging |
Het |
| Tlr1 |
T |
C |
5: 65,082,522 (GRCm39) |
N685S |
probably damaging |
Het |
| Trio |
A |
G |
15: 27,905,409 (GRCm39) |
V60A |
probably benign |
Het |
| Ttyh3 |
G |
A |
5: 140,617,268 (GRCm39) |
R334W |
probably benign |
Het |
| Ube2u |
A |
G |
4: 100,336,422 (GRCm39) |
E15G |
possibly damaging |
Het |
| Ush2a |
G |
T |
1: 188,581,189 (GRCm39) |
V3690L |
probably benign |
Het |
| Xab2 |
A |
G |
8: 3,671,232 (GRCm39) |
V16A |
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 |
|
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 |
2013-10-07 |
Incidental Mutation