Incidental Mutation 'R1331:Impdh1'
| ID |
156188 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Impdh1
|
| Ensembl Gene |
ENSMUSG00000003500 |
| Gene Name |
inosine monophosphate dehydrogenase 1 |
| Synonyms |
B930086D20Rik |
| MMRRC Submission |
039396-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.262)
|
| Stock # |
R1331 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
29200435-29216363 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 29206477 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 120
(V120D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125235
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078155]
[ENSMUST00000159124]
[ENSMUST00000160749]
[ENSMUST00000160878]
[ENSMUST00000162099]
[ENSMUST00000162739]
[ENSMUST00000162215]
|
| AlphaFold |
P50096 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078155
AA Change: V120D
PolyPhen 2
Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000077289
Gene: ENSMUSG00000003500
AA Change: V120D
| 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 |
possibly damaging
Transcript: ENSMUST00000159124
AA Change: V120D
PolyPhen 2
Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000124931
Gene: ENSMUSG00000003500
AA Change: V120D
| 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 |
possibly damaging
Transcript: ENSMUST00000160878
AA Change: V95D
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000124269
Gene: ENSMUSG00000003500
AA Change: V95D
| 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 |
possibly damaging
Transcript: ENSMUST00000162099
AA Change: V120D
PolyPhen 2
Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000124541
Gene: ENSMUSG00000003500
AA Change: V120D
| 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: V144D
PolyPhen 2
Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000125077
Gene: ENSMUSG00000003500
AA Change: V144D
| 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: ENSMUST00000162215
AA Change: V120D
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000125235
Gene: ENSMUSG00000003500
AA Change: V120D
| Domain | Start | End | E-Value | Type |
|---|
|
IMPDH
|
28 |
231 |
5.75e-17 |
SMART |
|
CBS
|
161 |
209 |
3.37e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162242
|
| SMART Domains |
Protein: ENSMUSP00000123981
Gene: ENSMUSG00000003500
| Domain | Start | End | E-Value | Type |
|---|
|
IMPDH
|
1 |
145 |
2e-11 |
SMART |
|
low complexity region
|
165 |
181 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.2%
- 20x: 93.0%
|
| Validation Efficiency |
100% (59/59) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap1 |
A |
T |
11: 69,773,202 (GRCm39) |
|
probably null |
Het |
| Acat1 |
T |
C |
9: 53,496,183 (GRCm39) |
D318G |
probably benign |
Het |
| Ahdc1 |
T |
C |
4: 132,791,002 (GRCm39) |
F748L |
probably benign |
Het |
| Alkbh8 |
T |
A |
9: 3,347,916 (GRCm39) |
|
probably null |
Het |
| Arhgef26 |
A |
G |
3: 62,247,449 (GRCm39) |
T178A |
probably benign |
Het |
| Bid |
C |
T |
6: 120,874,216 (GRCm39) |
A110T |
possibly damaging |
Het |
| Ccdc180 |
T |
C |
4: 45,909,359 (GRCm39) |
V509A |
possibly damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,869,634 (GRCm39) |
E731G |
probably benign |
Het |
| Cenpf |
A |
G |
1: 189,374,998 (GRCm39) |
V2931A |
probably damaging |
Het |
| Cobl |
A |
T |
11: 12,325,853 (GRCm39) |
N207K |
probably damaging |
Het |
| Col14a1 |
T |
A |
15: 55,273,584 (GRCm39) |
W718R |
unknown |
Het |
| Dnah7a |
A |
G |
1: 53,507,828 (GRCm39) |
I3081T |
probably damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,615,698 (GRCm39) |
V2977A |
probably damaging |
Het |
| Ephb4 |
A |
G |
5: 137,364,796 (GRCm39) |
|
probably benign |
Het |
| Eri3 |
T |
C |
4: 117,422,104 (GRCm39) |
|
probably benign |
Het |
| Fbxo24 |
A |
G |
5: 137,617,891 (GRCm39) |
V291A |
probably damaging |
Het |
| Glra1 |
A |
C |
11: 55,405,896 (GRCm39) |
S282A |
probably benign |
Het |
| Gm7589 |
C |
A |
9: 59,053,325 (GRCm39) |
|
noncoding transcript |
Het |
| H6pd |
T |
C |
4: 150,066,872 (GRCm39) |
N505D |
probably benign |
Het |
| Hdlbp |
T |
A |
1: 93,348,853 (GRCm39) |
N566Y |
probably damaging |
Het |
| Hsp90aa1 |
C |
A |
12: 110,659,254 (GRCm39) |
K514N |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,465,627 (GRCm39) |
T1360A |
probably benign |
Het |
| Loxhd1 |
C |
T |
18: 77,490,632 (GRCm39) |
P1411S |
possibly damaging |
Het |
| Lpl |
A |
G |
8: 69,349,281 (GRCm39) |
E269G |
probably damaging |
Het |
| Map1a |
G |
T |
2: 121,136,701 (GRCm39) |
E2268* |
probably null |
Het |
| Mark1 |
T |
C |
1: 184,660,245 (GRCm39) |
E137G |
probably damaging |
Het |
| Mki67 |
A |
T |
7: 135,300,005 (GRCm39) |
S1676R |
possibly damaging |
Het |
| Mogat2 |
T |
C |
7: 98,872,722 (GRCm39) |
Y154C |
possibly damaging |
Het |
| Myo18a |
C |
G |
11: 77,732,405 (GRCm39) |
I859M |
probably benign |
Het |
| Myo7a |
A |
G |
7: 97,756,215 (GRCm39) |
V39A |
probably benign |
Het |
| Nedd4 |
T |
A |
9: 72,584,668 (GRCm39) |
I123N |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,977,754 (GRCm39) |
V1966A |
probably benign |
Het |
| Or7g33 |
T |
C |
9: 19,448,842 (GRCm39) |
N128S |
probably benign |
Het |
| Orc3 |
T |
G |
4: 34,599,748 (GRCm39) |
N77T |
probably benign |
Het |
| Penk |
A |
G |
4: 4,134,287 (GRCm39) |
M120T |
probably benign |
Het |
| Phf7 |
G |
A |
14: 30,962,362 (GRCm39) |
Q148* |
probably null |
Het |
| Pkhd1l1 |
G |
A |
15: 44,368,943 (GRCm39) |
V863I |
probably damaging |
Het |
| Pkhd1l1 |
C |
T |
15: 44,452,993 (GRCm39) |
R3973C |
probably damaging |
Het |
| Polq |
C |
T |
16: 36,862,109 (GRCm39) |
T264M |
probably damaging |
Het |
| Ptprb |
A |
T |
10: 116,203,437 (GRCm39) |
T2070S |
probably damaging |
Het |
| Ralgapb |
T |
C |
2: 158,272,453 (GRCm39) |
F169S |
probably damaging |
Het |
| Rapgef5 |
G |
T |
12: 117,685,084 (GRCm39) |
A278S |
probably benign |
Het |
| Ripor2 |
G |
T |
13: 24,861,824 (GRCm39) |
E203* |
probably null |
Het |
| Setx |
T |
C |
2: 29,069,698 (GRCm39) |
L2501P |
probably benign |
Het |
| Sh3bgrl2 |
C |
T |
9: 83,459,684 (GRCm39) |
|
probably benign |
Het |
| Slc35b1 |
T |
A |
11: 95,276,689 (GRCm39) |
V56D |
probably damaging |
Het |
| Slc45a4 |
C |
T |
15: 73,458,596 (GRCm39) |
D326N |
probably benign |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Stat4 |
T |
A |
1: 52,053,086 (GRCm39) |
V89D |
probably benign |
Het |
| Tek |
T |
A |
4: 94,627,943 (GRCm39) |
|
probably benign |
Het |
| Tert |
T |
A |
13: 73,796,473 (GRCm39) |
F1068Y |
probably damaging |
Het |
| Trim33 |
T |
A |
3: 103,217,670 (GRCm39) |
I205K |
probably damaging |
Het |
| Vmn1r212 |
A |
T |
13: 23,067,562 (GRCm39) |
I257K |
probably benign |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTCCCTCTGTGATGCAGCTCTG -3'
(R):5'- AGGACTCTCACTTCTCAATGGCCC -3'
Sequencing Primer
(F):5'- GTGATGCAGCTCTGCCTTC -3'
(R):5'- ggctgtcctggaactcac -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation