Incidental Mutation 'IGL01543:Impdh1'
| ID |
90211 |
| 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? |
Probably non essential
(E-score: 0.247)
|
| Stock # |
IGL01543
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
29200435-29216363 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 29203377 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 14
(V14G)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078155]
[ENSMUST00000159124]
[ENSMUST00000160749]
[ENSMUST00000160878]
[ENSMUST00000162099]
[ENSMUST00000162739]
[ENSMUST00000162215]
|
| AlphaFold |
P50096 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078155
AA Change: V374G
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000077289
Gene: ENSMUSG00000003500
AA Change: V374G
| 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 benign
Transcript: ENSMUST00000159124
AA Change: V374G
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000124931
Gene: ENSMUSG00000003500
AA Change: V374G
| 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 benign
Transcript: ENSMUST00000160878
AA Change: V349G
PolyPhen 2
Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000124269
Gene: ENSMUSG00000003500
AA Change: V349G
| 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 benign
Transcript: ENSMUST00000162099
AA Change: V374G
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000124541
Gene: ENSMUSG00000003500
AA Change: V374G
| 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 benign
Transcript: ENSMUST00000162739
AA Change: V398G
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000125077
Gene: ENSMUSG00000003500
AA Change: V398G
| 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 damaging
Transcript: ENSMUST00000162242
AA Change: V14G
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000123981
Gene: ENSMUSG00000003500
AA Change: V14G
| Domain | Start | End | E-Value | Type |
|---|
|
IMPDH
|
1 |
145 |
2e-11 |
SMART |
|
low complexity region
|
165 |
181 |
N/A |
INTRINSIC |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2 |
T |
C |
3: 59,932,097 (GRCm39) |
I204T |
probably benign |
Het |
| Abhd16a |
T |
C |
17: 35,310,013 (GRCm39) |
S69P |
probably damaging |
Het |
| Ampd1 |
C |
T |
3: 103,003,029 (GRCm39) |
T582I |
probably benign |
Het |
| Arap3 |
G |
A |
18: 38,123,889 (GRCm39) |
R377C |
probably damaging |
Het |
| Arid1a |
A |
T |
4: 133,409,033 (GRCm39) |
F1825I |
unknown |
Het |
| Asxl1 |
G |
A |
2: 153,243,404 (GRCm39) |
G1318D |
probably benign |
Het |
| B4galnt3 |
G |
A |
6: 120,186,273 (GRCm39) |
H807Y |
probably benign |
Het |
| Bpifb5 |
G |
T |
2: 154,075,169 (GRCm39) |
V366F |
possibly damaging |
Het |
| Caskin1 |
T |
C |
17: 24,723,522 (GRCm39) |
V770A |
probably benign |
Het |
| Ccdc152 |
G |
A |
15: 3,327,606 (GRCm39) |
T57I |
possibly damaging |
Het |
| Ccs |
T |
C |
19: 4,884,269 (GRCm39) |
E61G |
possibly damaging |
Het |
| Chsy3 |
G |
A |
18: 59,543,472 (GRCm39) |
W870* |
probably null |
Het |
| Col8a1 |
G |
A |
16: 57,448,097 (GRCm39) |
P471L |
unknown |
Het |
| Cyp2j6 |
A |
C |
4: 96,414,161 (GRCm39) |
V368G |
possibly damaging |
Het |
| Dnajc3 |
T |
C |
14: 119,198,274 (GRCm39) |
|
probably null |
Het |
| Dpep3 |
A |
T |
8: 106,702,814 (GRCm39) |
M316K |
probably damaging |
Het |
| Galntl5 |
A |
G |
5: 25,400,349 (GRCm39) |
E126G |
probably damaging |
Het |
| Gli1 |
T |
C |
10: 127,168,347 (GRCm39) |
N502S |
probably damaging |
Het |
| Hus1 |
A |
G |
11: 8,950,082 (GRCm39) |
L213P |
probably benign |
Het |
| Hypk |
A |
G |
2: 121,287,776 (GRCm39) |
|
probably null |
Het |
| Igkv4-59 |
T |
A |
6: 69,415,345 (GRCm39) |
Y70F |
probably damaging |
Het |
| Kif26b |
A |
G |
1: 178,506,526 (GRCm39) |
M201V |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,295,250 (GRCm39) |
I5323T |
probably damaging |
Het |
| Mmp16 |
C |
T |
4: 18,051,743 (GRCm39) |
A244V |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,932,943 (GRCm39) |
D5619G |
probably benign |
Het |
| Or2ag20 |
T |
C |
7: 106,465,125 (GRCm39) |
S313P |
probably benign |
Het |
| Pcdh7 |
T |
C |
5: 57,878,107 (GRCm39) |
V554A |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,203,101 (GRCm39) |
E1513G |
probably damaging |
Het |
| Rab6b |
A |
G |
9: 103,039,837 (GRCm39) |
D75G |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,790,501 (GRCm39) |
Y1435C |
probably damaging |
Het |
| Scarf2 |
A |
G |
16: 17,620,413 (GRCm39) |
N81S |
probably damaging |
Het |
| Six5 |
G |
A |
7: 18,830,272 (GRCm39) |
A300T |
possibly damaging |
Het |
| Skap2 |
T |
A |
6: 51,989,375 (GRCm39) |
N3Y |
possibly damaging |
Het |
| Skint6 |
A |
T |
4: 112,757,160 (GRCm39) |
S734T |
probably benign |
Het |
| Slc15a4 |
A |
C |
5: 127,680,830 (GRCm39) |
H396Q |
probably benign |
Het |
| Slco6c1 |
A |
G |
1: 97,053,553 (GRCm39) |
M116T |
possibly damaging |
Het |
| Slfn9 |
T |
C |
11: 82,878,775 (GRCm39) |
D118G |
probably benign |
Het |
| Trim3 |
T |
C |
7: 105,262,520 (GRCm39) |
D546G |
probably damaging |
Het |
| Trpa1 |
A |
G |
1: 14,970,300 (GRCm39) |
L362P |
probably damaging |
Het |
| Vasn |
A |
G |
16: 4,467,756 (GRCm39) |
T568A |
possibly damaging |
Het |
| Vwa5b2 |
A |
G |
16: 20,414,466 (GRCm39) |
M281V |
probably benign |
Het |
| Wwp2 |
A |
G |
8: 108,210,000 (GRCm39) |
E126G |
probably damaging |
Het |
| Zfp398 |
G |
A |
6: 47,842,997 (GRCm39) |
G350S |
probably damaging |
Het |
|
| Other mutations in Impdh1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
IGL02874:Impdh1
|
APN |
6 |
29,203,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-12-03 |
Incidental Mutation