Incidental Mutation 'IGL02874:Impdh1'
| ID |
362643 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Impdh1
|
| Ensembl Gene |
ENSMUSG00000003500 |
| Gene Name |
inosine monophosphate dehydrogenase 1 |
| Synonyms |
B930086D20Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.262)
|
| Stock # |
IGL02874
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
29200435-29216363 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 29203155 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 389
(M389K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124269
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078155]
[ENSMUST00000159124]
[ENSMUST00000160749]
[ENSMUST00000160878]
[ENSMUST00000162099]
[ENSMUST00000162739]
[ENSMUST00000162215]
|
| AlphaFold |
P50096 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078155
AA Change: M414K
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000077289
Gene: ENSMUSG00000003500
AA Change: M414K
| Domain | Start | End | E-Value | Type |
|---|
|
IMPDH
|
28 |
504 |
6.73e-263 |
SMART |
|
CBS
|
117 |
168 |
6.49e-10 |
SMART |
|
CBS
|
184 |
232 |
3.37e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159124
AA Change: M414K
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124931
Gene: ENSMUSG00000003500
AA Change: M414K
| Domain | Start | End | E-Value | Type |
|---|
|
IMPDH
|
28 |
504 |
6.73e-263 |
SMART |
|
CBS
|
117 |
168 |
6.49e-10 |
SMART |
|
CBS
|
184 |
232 |
3.37e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160613
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160749
|
| SMART Domains |
Protein: ENSMUSP00000125488
Gene: ENSMUSG00000003500
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IMPDH
|
28 |
84 |
3.9e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160878
AA Change: M389K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124269
Gene: ENSMUSG00000003500
AA Change: M389K
| Domain | Start | End | E-Value | Type |
|---|
|
IMPDH
|
28 |
479 |
2.97e-232 |
SMART |
|
CBS
|
92 |
143 |
6.49e-10 |
SMART |
|
CBS
|
159 |
207 |
3.37e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161654
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162099
AA Change: M414K
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124541
Gene: ENSMUSG00000003500
AA Change: M414K
| Domain | Start | End | E-Value | Type |
|---|
|
IMPDH
|
28 |
504 |
6.73e-263 |
SMART |
|
CBS
|
117 |
168 |
6.49e-10 |
SMART |
|
CBS
|
184 |
232 |
3.37e-8 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000162242
AA Change: M54K
|
| SMART Domains |
Protein: ENSMUSP00000123981
Gene: ENSMUSG00000003500
AA Change: M54K
| Domain | Start | End | E-Value | Type |
|---|
|
IMPDH
|
1 |
145 |
2e-11 |
SMART |
|
low complexity region
|
165 |
181 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000162739
AA Change: M438K
|
| SMART Domains |
Protein: ENSMUSP00000125077
Gene: ENSMUSG00000003500
AA Change: M438K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
32 |
61 |
N/A |
INTRINSIC |
|
IMPDH
|
86 |
558 |
2e-256 |
SMART |
|
CBS
|
171 |
222 |
6.49e-10 |
SMART |
|
CBS
|
238 |
286 |
3.37e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162215
|
| SMART Domains |
Protein: ENSMUSP00000125235
Gene: ENSMUSG00000003500
| Domain | Start | End | E-Value | Type |
|---|
|
IMPDH
|
28 |
231 |
5.75e-17 |
SMART |
|
CBS
|
161 |
209 |
3.37e-8 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene acts as a homotetramer to regulate cell growth. The encoded protein is an enzyme that catalyzes the synthesis of xanthine monophosphate (XMP) from inosine-5'-monophosphate (IMP). This is the rate-limiting step in the de novo synthesis of guanine nucleotides. Defects in this gene are a cause of retinitis pigmentosa type 10 (RP10). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
PHENOTYPE: Mic homozygous for disruptions of this gene display abnormalities in T cell proliferation. Mice homozygous for an ENU-induced mutation exhibit reduced thickness of the outer nuclear layer and total retina thickness. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp8a2 |
A |
G |
14: 60,039,701 (GRCm39) |
Y876H |
probably damaging |
Het |
| Cfap65 |
G |
A |
1: 74,950,267 (GRCm39) |
Q1161* |
probably null |
Het |
| Chrd |
C |
T |
16: 20,553,946 (GRCm39) |
T282I |
probably damaging |
Het |
| Clasp1 |
T |
C |
1: 118,479,773 (GRCm39) |
S749P |
possibly damaging |
Het |
| Clec4a3 |
T |
A |
6: 122,944,519 (GRCm39) |
N188K |
probably benign |
Het |
| Dmpk |
A |
G |
7: 18,820,926 (GRCm39) |
M181V |
possibly damaging |
Het |
| Dnah7a |
A |
T |
1: 53,644,973 (GRCm39) |
M1021K |
possibly damaging |
Het |
| Exoc5 |
A |
T |
14: 49,288,903 (GRCm39) |
N48K |
probably benign |
Het |
| Golga1 |
A |
G |
2: 38,929,104 (GRCm39) |
L338P |
probably damaging |
Het |
| Hdc |
T |
A |
2: 126,443,596 (GRCm39) |
T334S |
probably benign |
Het |
| Idh2 |
A |
G |
7: 79,747,621 (GRCm39) |
S300P |
probably damaging |
Het |
| Igkv4-78 |
T |
C |
6: 69,037,190 (GRCm39) |
I7V |
probably benign |
Het |
| Kcnd2 |
T |
A |
6: 21,216,922 (GRCm39) |
C209S |
probably damaging |
Het |
| Or11g25 |
G |
T |
14: 50,723,686 (GRCm39) |
C257F |
possibly damaging |
Het |
| Or4q3 |
A |
T |
14: 50,583,583 (GRCm39) |
H105Q |
probably damaging |
Het |
| Or56b2 |
C |
A |
7: 104,337,230 (GRCm39) |
Q3K |
probably benign |
Het |
| Ovol1 |
T |
C |
19: 5,601,209 (GRCm39) |
K194R |
probably damaging |
Het |
| Pcdh17 |
A |
T |
14: 84,685,680 (GRCm39) |
I716F |
possibly damaging |
Het |
| Pck1 |
T |
C |
2: 172,997,042 (GRCm39) |
I228T |
probably damaging |
Het |
| Pla2g2a |
T |
C |
4: 138,562,159 (GRCm39) |
F132L |
probably benign |
Het |
| Prex1 |
A |
G |
2: 166,426,967 (GRCm39) |
V1086A |
probably damaging |
Het |
| Rasd2 |
T |
C |
8: 75,945,327 (GRCm39) |
I52T |
probably damaging |
Het |
| Robo1 |
T |
C |
16: 72,809,806 (GRCm39) |
Y1185H |
probably damaging |
Het |
| Sema6c |
T |
G |
3: 95,077,688 (GRCm39) |
V441G |
probably damaging |
Het |
| Slc9a4 |
A |
T |
1: 40,623,198 (GRCm39) |
M146L |
probably benign |
Het |
| Thsd4 |
C |
T |
9: 60,160,013 (GRCm39) |
V358I |
probably damaging |
Het |
| Ttbk1 |
T |
C |
17: 46,781,151 (GRCm39) |
E474G |
probably benign |
Het |
| Ttbk2 |
T |
A |
2: 120,576,193 (GRCm39) |
D928V |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,641,522 (GRCm39) |
G11779S |
probably damaging |
Het |
| Wfdc6b |
T |
C |
2: 164,459,368 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Impdh1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01543:Impdh1
|
APN |
6 |
29,203,377 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01642:Impdh1
|
APN |
6 |
29,207,165 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL02187:Impdh1
|
APN |
6 |
29,207,086 (GRCm39) |
splice site |
probably benign |
|
|
IGL02294:Impdh1
|
APN |
6 |
29,205,201 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02570:Impdh1
|
APN |
6 |
29,203,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02858:Impdh1
|
APN |
6 |
29,206,924 (GRCm39) |
nonsense |
probably null |
|
|
steve
|
UTSW |
6 |
29,204,631 (GRCm39) |
nonsense |
probably null |
|
|
R0089:Impdh1
|
UTSW |
6 |
29,206,325 (GRCm39) |
missense |
probably benign |
|
|
R0855:Impdh1
|
UTSW |
6 |
29,206,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1331:Impdh1
|
UTSW |
6 |
29,206,477 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1797:Impdh1
|
UTSW |
6 |
29,207,168 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1824:Impdh1
|
UTSW |
6 |
29,205,087 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1981:Impdh1
|
UTSW |
6 |
29,206,450 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R2076:Impdh1
|
UTSW |
6 |
29,205,162 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3841:Impdh1
|
UTSW |
6 |
29,202,768 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4020:Impdh1
|
UTSW |
6 |
29,202,693 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4415:Impdh1
|
UTSW |
6 |
29,209,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4471:Impdh1
|
UTSW |
6 |
29,204,631 (GRCm39) |
nonsense |
probably null |
|
|
R4777:Impdh1
|
UTSW |
6 |
29,205,201 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5783:Impdh1
|
UTSW |
6 |
29,206,342 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5973:Impdh1
|
UTSW |
6 |
29,207,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7230:Impdh1
|
UTSW |
6 |
29,206,062 (GRCm39) |
splice site |
probably null |
|
|
R7512:Impdh1
|
UTSW |
6 |
29,207,168 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8686:Impdh1
|
UTSW |
6 |
29,216,214 (GRCm39) |
start gained |
probably benign |
|
|
R8893:Impdh1
|
UTSW |
6 |
29,216,248 (GRCm39) |
start gained |
probably benign |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation