Incidental Mutation 'R4415:Impdh1'
| ID |
500610 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4415 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
29200435-29216363 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 29209221 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 49
(V49M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125235
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078155]
[ENSMUST00000159124]
[ENSMUST00000160749]
[ENSMUST00000160878]
[ENSMUST00000162099]
[ENSMUST00000162215]
[ENSMUST00000162739]
|
| AlphaFold |
P50096 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078155
AA Change: V49M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077289
Gene: ENSMUSG00000003500
AA Change: V49M
| 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: V49M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124931
Gene: ENSMUSG00000003500
AA Change: V49M
| 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 damaging
Transcript: ENSMUST00000160749
AA Change: V49M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125488
Gene: ENSMUSG00000003500
AA Change: V49M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IMPDH
|
28 |
84 |
3.9e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160878
AA Change: V49M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124269
Gene: ENSMUSG00000003500
AA Change: V49M
| 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: V49M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124541
Gene: ENSMUSG00000003500
AA Change: V49M
| 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: ENSMUST00000162215
AA Change: V49M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125235
Gene: ENSMUSG00000003500
AA Change: V49M
| Domain | Start | End | E-Value | Type |
|---|
|
IMPDH
|
28 |
231 |
5.75e-17 |
SMART |
|
CBS
|
161 |
209 |
3.37e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162739
AA Change: V73M
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000125077
Gene: ENSMUSG00000003500
AA Change: V73M
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace3 |
A |
T |
11: 105,895,947 (GRCm39) |
D631V |
probably benign |
Het |
| Adam17 |
T |
C |
12: 21,395,702 (GRCm39) |
I274V |
possibly damaging |
Het |
| Aebp1 |
A |
G |
11: 5,815,451 (GRCm39) |
D303G |
probably damaging |
Het |
| B020004C17Rik |
T |
C |
14: 57,254,874 (GRCm39) |
*233R |
probably null |
Het |
| Bcl9l |
C |
T |
9: 44,413,176 (GRCm39) |
P127S |
possibly damaging |
Het |
| Bdp1 |
T |
C |
13: 100,167,369 (GRCm39) |
D2215G |
probably damaging |
Het |
| Caly |
T |
C |
7: 139,652,593 (GRCm39) |
T52A |
probably damaging |
Het |
| Ccdc125 |
T |
C |
13: 100,832,817 (GRCm39) |
S465P |
possibly damaging |
Het |
| Cdc23 |
ACC |
AC |
18: 34,770,371 (GRCm39) |
|
probably null |
Het |
| Colq |
T |
C |
14: 31,257,645 (GRCm39) |
K231E |
probably damaging |
Het |
| Fam32a |
T |
A |
8: 72,975,785 (GRCm39) |
I77N |
probably damaging |
Het |
| Kcnh7 |
A |
G |
2: 62,536,417 (GRCm39) |
I1055T |
probably damaging |
Het |
| Lad1 |
A |
G |
1: 135,756,484 (GRCm39) |
D364G |
probably benign |
Het |
| Lama2 |
G |
T |
10: 26,865,340 (GRCm39) |
Y947* |
probably null |
Het |
| Myo5b |
T |
A |
18: 74,713,479 (GRCm39) |
I108N |
probably damaging |
Het |
| Nvl |
T |
C |
1: 180,932,679 (GRCm39) |
T713A |
probably benign |
Het |
| Oit3 |
T |
C |
10: 59,263,925 (GRCm39) |
Y403C |
probably damaging |
Het |
| Or6c70 |
T |
C |
10: 129,709,826 (GRCm39) |
T267A |
probably benign |
Het |
| Pappa |
A |
G |
4: 65,223,532 (GRCm39) |
T1236A |
probably benign |
Het |
| Pip4p2 |
C |
T |
4: 14,912,463 (GRCm39) |
R191C |
probably damaging |
Het |
| Rcl1 |
G |
A |
19: 29,095,762 (GRCm39) |
V116I |
probably benign |
Het |
| Rdh14 |
G |
A |
12: 10,441,231 (GRCm39) |
|
probably null |
Het |
| Rfx2 |
T |
A |
17: 57,094,733 (GRCm39) |
T204S |
possibly damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Ripor1 |
T |
C |
8: 106,344,608 (GRCm39) |
S581P |
probably benign |
Het |
| Rnf213 |
T |
A |
11: 119,374,790 (GRCm39) |
V5084E |
probably damaging |
Het |
| Scn9a |
A |
T |
2: 66,357,037 (GRCm39) |
V1077E |
probably damaging |
Het |
| Slc15a5 |
A |
G |
6: 138,056,754 (GRCm39) |
V54A |
probably benign |
Het |
| Slc35b2 |
G |
A |
17: 45,877,355 (GRCm39) |
V161M |
probably benign |
Het |
| Snx19 |
T |
A |
9: 30,348,779 (GRCm39) |
L804Q |
probably damaging |
Het |
| Spata31e5 |
T |
A |
1: 28,816,214 (GRCm39) |
Q606L |
probably benign |
Het |
| Specc1l |
C |
A |
10: 75,082,162 (GRCm39) |
N519K |
possibly damaging |
Het |
| Spmip6 |
T |
C |
4: 41,505,574 (GRCm39) |
T183A |
possibly damaging |
Het |
| Stambp |
A |
T |
6: 83,534,464 (GRCm39) |
N274K |
probably damaging |
Het |
| Stox1 |
T |
C |
10: 62,495,348 (GRCm39) |
N975S |
probably benign |
Het |
| Tacc3 |
T |
G |
5: 33,824,028 (GRCm39) |
|
probably null |
Het |
| Tubb1 |
G |
A |
2: 174,299,466 (GRCm39) |
E383K |
probably benign |
Het |
| Ube3b |
A |
T |
5: 114,550,505 (GRCm39) |
D844V |
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 |
|
R4020:Impdh1
|
UTSW |
6 |
29,202,693 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- GACCTTTTCTGAGCCAACCC -3'
(R):5'- GTCAGTGGATTCCAGCCTTTC -3'
Sequencing Primer
(F):5'- ACTTCTTCAGTGACAGAGCATC -3'
(R):5'- AGTGGATTCCAGCCTTTCTGCTC -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation