Incidental Mutation 'R4020:Impdh1'
| ID |
312726 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Impdh1
|
| Ensembl Gene |
ENSMUSG00000003500 |
| Gene Name |
inosine monophosphate dehydrogenase 1 |
| Synonyms |
B930086D20Rik |
| MMRRC Submission |
040954-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.262)
|
| Stock # |
R4020 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
29200435-29216363 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29202693 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 446
(I446V)
|
| 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 benign
Transcript: ENSMUST00000078155
AA Change: I471V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000077289
Gene: ENSMUSG00000003500
AA Change: I471V
| 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: I471V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000124931
Gene: ENSMUSG00000003500
AA Change: I471V
| 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: I446V
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000124269
Gene: ENSMUSG00000003500
AA Change: I446V
| 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: I471V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000124541
Gene: ENSMUSG00000003500
AA Change: I471V
| 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: ENSMUST00000162739
AA Change: I495V
|
| SMART Domains |
Protein: ENSMUSP00000125077
Gene: ENSMUSG00000003500
AA Change: I495V
| 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 |
unknown
Transcript: ENSMUST00000162242
AA Change: I111V
|
| SMART Domains |
Protein: ENSMUSP00000123981
Gene: ENSMUSG00000003500
AA Change: I111V
| 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 |
|
| Meta Mutation Damage Score |
0.0895 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (54/54) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy7 |
G |
C |
8: 89,035,362 (GRCm39) |
V89L |
probably benign |
Het |
| Aebp2 |
T |
A |
6: 140,588,021 (GRCm39) |
S364T |
probably damaging |
Het |
| Akr1b10 |
C |
T |
6: 34,369,388 (GRCm39) |
T206I |
probably benign |
Het |
| Ap4e1 |
C |
T |
2: 126,903,846 (GRCm39) |
S916F |
probably benign |
Het |
| Apob |
C |
T |
12: 8,044,914 (GRCm39) |
Q845* |
probably null |
Het |
| Asb4 |
A |
G |
6: 5,390,803 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,066,724 (GRCm39) |
|
probably benign |
Het |
| C1ra |
A |
T |
6: 124,496,736 (GRCm39) |
T391S |
probably benign |
Het |
| Catsperg2 |
C |
A |
7: 29,416,429 (GRCm39) |
D328Y |
probably damaging |
Het |
| Ciapin1 |
G |
T |
8: 95,555,814 (GRCm39) |
L119M |
probably damaging |
Het |
| Crhr2 |
A |
G |
6: 55,077,765 (GRCm39) |
|
probably benign |
Het |
| Cyp2j6 |
A |
G |
4: 96,406,407 (GRCm39) |
S455P |
probably benign |
Het |
| Dctn4 |
G |
A |
18: 60,671,329 (GRCm39) |
|
probably benign |
Het |
| Defa25 |
C |
T |
8: 21,575,245 (GRCm39) |
R75C |
probably benign |
Het |
| Dnajc10 |
T |
C |
2: 80,175,296 (GRCm39) |
L561P |
probably damaging |
Het |
| Dnajc7 |
A |
T |
11: 100,482,292 (GRCm39) |
F185L |
probably damaging |
Het |
| Dock9 |
T |
C |
14: 121,844,267 (GRCm39) |
I1175V |
probably benign |
Het |
| Drosha |
T |
G |
15: 12,837,422 (GRCm39) |
L302R |
possibly damaging |
Het |
| Efcab5 |
C |
T |
11: 76,994,930 (GRCm39) |
V1214I |
probably benign |
Het |
| Erich3 |
G |
A |
3: 154,419,686 (GRCm39) |
R260H |
probably damaging |
Het |
| Fam168b |
T |
C |
1: 34,867,860 (GRCm39) |
T47A |
possibly damaging |
Het |
| Gorasp1 |
G |
A |
9: 119,757,936 (GRCm39) |
R290C |
probably benign |
Het |
| Gtf2a1 |
A |
G |
12: 91,539,351 (GRCm39) |
S94P |
possibly damaging |
Het |
| Ighv1-53 |
C |
T |
12: 115,122,442 (GRCm39) |
C5Y |
probably benign |
Het |
| Krtap5-1 |
T |
C |
7: 141,850,094 (GRCm39) |
|
probably null |
Het |
| Lipo3 |
T |
A |
19: 33,764,804 (GRCm39) |
I17L |
probably benign |
Het |
| Lrrc37 |
A |
G |
11: 103,506,119 (GRCm39) |
S1950P |
probably benign |
Het |
| Lss |
T |
C |
10: 76,383,278 (GRCm39) |
M526T |
probably damaging |
Het |
| Med12l |
A |
C |
3: 59,155,363 (GRCm39) |
Q1181P |
probably damaging |
Het |
| Mtrf1l |
T |
C |
10: 5,767,454 (GRCm39) |
T221A |
probably benign |
Het |
| Muc21 |
T |
C |
17: 35,930,953 (GRCm39) |
|
probably benign |
Het |
| Mxi1 |
C |
A |
19: 53,360,160 (GRCm39) |
A294E |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,359,883 (GRCm39) |
E451G |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,359,902 (GRCm39) |
I445V |
probably benign |
Het |
| Nfrkb |
T |
A |
9: 31,325,407 (GRCm39) |
L950Q |
possibly damaging |
Het |
| Nherf4 |
A |
T |
9: 44,162,117 (GRCm39) |
|
probably null |
Het |
| Oplah |
A |
G |
15: 76,181,476 (GRCm39) |
Y1155H |
probably damaging |
Het |
| Or5b105 |
T |
G |
19: 13,079,790 (GRCm39) |
K287Q |
probably damaging |
Het |
| Pcnx1 |
C |
T |
12: 81,965,018 (GRCm39) |
T395I |
probably damaging |
Het |
| Pitrm1 |
A |
G |
13: 6,606,723 (GRCm39) |
H259R |
probably damaging |
Het |
| Pllp |
C |
A |
8: 95,406,072 (GRCm39) |
M70I |
possibly damaging |
Het |
| Pop1 |
A |
G |
15: 34,508,926 (GRCm39) |
T334A |
probably benign |
Het |
| Prep |
T |
C |
10: 44,968,894 (GRCm39) |
|
probably benign |
Het |
| Ptprz1 |
C |
A |
6: 22,959,623 (GRCm39) |
|
probably benign |
Het |
| Sbsn |
A |
G |
7: 30,455,390 (GRCm39) |
S170G |
probably damaging |
Het |
| Sco1 |
T |
G |
11: 66,954,846 (GRCm39) |
S284A |
probably benign |
Het |
| Slc25a10 |
T |
A |
11: 120,388,265 (GRCm39) |
M227K |
probably damaging |
Het |
| Trav7-6 |
A |
G |
14: 53,954,638 (GRCm39) |
K56R |
probably benign |
Het |
| Ubr4 |
T |
G |
4: 139,179,116 (GRCm39) |
C3322G |
probably damaging |
Het |
| Unc5a |
T |
C |
13: 55,151,182 (GRCm39) |
Y608H |
probably damaging |
Het |
| Zfand1 |
A |
C |
3: 10,405,816 (GRCm39) |
N262K |
probably benign |
Het |
| Zfp335 |
C |
T |
2: 164,743,380 (GRCm39) |
R536H |
probably damaging |
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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAACTTGAGCTCTCCTGAGTAC -3'
(R):5'- TGGGCGGTATTCTATCTGTACC -3'
Sequencing Primer
(F):5'- CTCCTGAGTACATCATGGATCTGAG -3'
(R):5'- CGGTATTCTATCTGTACCTTGGAGAG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation