Incidental Mutation 'R4061:Impdh2'
| ID |
315867 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Impdh2
|
| Ensembl Gene |
ENSMUSG00000062867 |
| Gene Name |
inosine monophosphate dehydrogenase 2 |
| Synonyms |
IMP dehydrogenase type II |
| MMRRC Submission |
040852-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4061 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
108437635-108442776 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 108440003 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 182
(R182G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079888
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006851]
[ENSMUST00000074208]
[ENSMUST00000081111]
[ENSMUST00000112155]
[ENSMUST00000193421]
[ENSMUST00000194381]
[ENSMUST00000194904]
|
| AlphaFold |
P24547 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006851
|
| SMART Domains |
Protein: ENSMUSP00000006851
Gene: ENSMUSG00000006673
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
79 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
128 |
146 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
192 |
N/A |
INTRINSIC |
|
low complexity region
|
419 |
443 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
478 |
N/A |
INTRINSIC |
|
Pfam:DUF3504
|
597 |
761 |
1.8e-65 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074208
|
| SMART Domains |
Protein: ENSMUSP00000073832
Gene: ENSMUSG00000070283
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF498
|
61 |
169 |
9.3e-37 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081111
AA Change: R182G
PolyPhen 2
Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000079888
Gene: ENSMUSG00000062867
AA Change: R182G
| Domain | Start | End | E-Value | Type |
|---|
|
IMPDH
|
28 |
504 |
7.39e-260 |
SMART |
|
CBS
|
117 |
168 |
9.4e-7 |
SMART |
|
CBS
|
184 |
232 |
1.57e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112155
|
| SMART Domains |
Protein: ENSMUSP00000107782
Gene: ENSMUSG00000006673
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
79 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
128 |
146 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
192 |
N/A |
INTRINSIC |
|
low complexity region
|
419 |
443 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
478 |
N/A |
INTRINSIC |
|
Pfam:DUF3504
|
600 |
760 |
2.3e-64 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193193
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193242
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193421
AA Change: R157G
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000142117
Gene: ENSMUSG00000062867
AA Change: R157G
| Domain | Start | End | E-Value | Type |
|---|
|
IMPDH
|
28 |
248 |
1.3e-18 |
SMART |
|
CBS
|
92 |
143 |
4.5e-9 |
SMART |
|
CBS
|
159 |
207 |
7.6e-11 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194689
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194365
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194666
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193535
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194139
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194387
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193493
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195456
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194381
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194904
|
| SMART Domains |
Protein: ENSMUSP00000142305
Gene: ENSMUSG00000062867
| Domain | Start | End | E-Value | Type |
|---|
|
IMPDH
|
1 |
319 |
5e-122 |
SMART |
|
| Meta Mutation Damage Score |
0.0940 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
94% (51/54) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for disruptions in this gene have abnormalities resulting in embryonic lethality around the time of implantation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019A02Rik |
A |
T |
1: 53,197,928 (GRCm39) |
L140Q |
probably damaging |
Het |
| Adam25 |
A |
G |
8: 41,206,819 (GRCm39) |
I28M |
possibly damaging |
Het |
| Anks1b |
A |
G |
10: 90,143,484 (GRCm39) |
S464G |
probably damaging |
Het |
| AU040320 |
T |
A |
4: 126,729,488 (GRCm39) |
M550K |
probably damaging |
Het |
| Cab39l |
A |
G |
14: 59,737,056 (GRCm39) |
K59E |
possibly damaging |
Het |
| Cdc5l |
C |
T |
17: 45,721,816 (GRCm39) |
A485T |
probably benign |
Het |
| Csmd1 |
A |
G |
8: 15,995,158 (GRCm39) |
S2626P |
probably benign |
Het |
| Ctss |
C |
T |
3: 95,450,345 (GRCm39) |
R99W |
probably benign |
Het |
| Deptor |
A |
T |
15: 55,072,177 (GRCm39) |
M219L |
probably benign |
Het |
| Disp1 |
A |
G |
1: 182,869,264 (GRCm39) |
V1052A |
probably damaging |
Het |
| Esyt3 |
C |
T |
9: 99,202,891 (GRCm39) |
S504N |
probably damaging |
Het |
| Fat1 |
A |
T |
8: 45,478,518 (GRCm39) |
E2521D |
probably benign |
Het |
| Folh1 |
T |
A |
7: 86,406,170 (GRCm39) |
Y301F |
possibly damaging |
Het |
| Gm14443 |
G |
A |
2: 175,011,402 (GRCm39) |
T348I |
probably benign |
Het |
| Gtpbp2 |
G |
A |
17: 46,478,253 (GRCm39) |
R467H |
probably damaging |
Het |
| Hnrnpll |
T |
C |
17: 80,340,201 (GRCm39) |
H526R |
probably benign |
Het |
| Iars2 |
A |
T |
1: 185,035,583 (GRCm39) |
H552Q |
possibly damaging |
Het |
| Il18r1 |
G |
A |
1: 40,514,096 (GRCm39) |
V101I |
probably benign |
Het |
| Krt12 |
A |
T |
11: 99,306,841 (GRCm39) |
M487K |
unknown |
Het |
| Lmln |
C |
A |
16: 32,886,761 (GRCm39) |
Y89* |
probably null |
Het |
| Lrrc38 |
T |
A |
4: 143,077,076 (GRCm39) |
L113Q |
probably damaging |
Het |
| Mast3 |
A |
G |
8: 71,233,838 (GRCm39) |
V969A |
probably damaging |
Het |
| Muc5ac |
A |
G |
7: 141,364,867 (GRCm39) |
D1947G |
possibly damaging |
Het |
| Myh13 |
A |
T |
11: 67,221,715 (GRCm39) |
I177F |
possibly damaging |
Het |
| Nfasc |
T |
C |
1: 132,525,583 (GRCm39) |
Y904C |
probably damaging |
Het |
| Obscn |
G |
A |
11: 58,899,358 (GRCm39) |
P1000S |
probably damaging |
Het |
| Or52n4 |
T |
A |
7: 104,293,680 (GRCm39) |
K298* |
probably null |
Het |
| Or5t7 |
T |
A |
2: 86,507,162 (GRCm39) |
I172F |
probably damaging |
Het |
| Otop2 |
G |
A |
11: 115,220,201 (GRCm39) |
G347D |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,590,580 (GRCm39) |
E960G |
unknown |
Het |
| Plagl1 |
TGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCC |
TGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCC |
10: 13,004,515 (GRCm39) |
|
probably benign |
Het |
| Prl7a1 |
T |
C |
13: 27,819,832 (GRCm39) |
I141V |
possibly damaging |
Het |
| Ptpn18 |
A |
T |
1: 34,512,011 (GRCm39) |
H45L |
possibly damaging |
Het |
| Sbno1 |
A |
T |
5: 124,526,635 (GRCm39) |
M960K |
probably damaging |
Het |
| Slx4ip |
T |
A |
2: 136,846,937 (GRCm39) |
S67R |
probably benign |
Het |
| Spata18 |
A |
G |
5: 73,828,509 (GRCm39) |
K243E |
probably damaging |
Het |
| Tcp1 |
A |
G |
17: 13,139,750 (GRCm39) |
Q265R |
probably benign |
Het |
| Tec |
C |
T |
5: 72,980,752 (GRCm39) |
|
probably benign |
Het |
| Thbs4 |
A |
G |
13: 92,912,605 (GRCm39) |
|
probably null |
Het |
| Tln1 |
T |
A |
4: 43,549,177 (GRCm39) |
Q635L |
probably damaging |
Het |
| Tshz2 |
A |
G |
2: 169,804,245 (GRCm39) |
|
probably benign |
Het |
| Uap1 |
T |
C |
1: 169,986,415 (GRCm39) |
E189G |
possibly damaging |
Het |
| Usp21 |
G |
A |
1: 171,112,974 (GRCm39) |
|
probably benign |
Het |
| Vmn1r118 |
G |
T |
7: 20,645,933 (GRCm39) |
Q114K |
probably damaging |
Het |
| Vmn1r38 |
A |
T |
6: 66,753,832 (GRCm39) |
C95S |
possibly damaging |
Het |
| Vmn2r12 |
A |
T |
5: 109,240,058 (GRCm39) |
N168K |
possibly damaging |
Het |
| Vmn2r84 |
T |
A |
10: 130,221,898 (GRCm39) |
E774V |
probably damaging |
Het |
|
| Other mutations in Impdh2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0032:Impdh2
|
UTSW |
9 |
108,438,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0523:Impdh2
|
UTSW |
9 |
108,439,019 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0523:Impdh2
|
UTSW |
9 |
108,439,018 (GRCm39) |
splice site |
probably null |
|
|
R0644:Impdh2
|
UTSW |
9 |
108,440,836 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0648:Impdh2
|
UTSW |
9 |
108,440,665 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0905:Impdh2
|
UTSW |
9 |
108,438,296 (GRCm39) |
unclassified |
probably benign |
|
|
R1173:Impdh2
|
UTSW |
9 |
108,439,028 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1202:Impdh2
|
UTSW |
9 |
108,440,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1441:Impdh2
|
UTSW |
9 |
108,441,975 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1818:Impdh2
|
UTSW |
9 |
108,440,411 (GRCm39) |
splice site |
probably null |
|
|
R2141:Impdh2
|
UTSW |
9 |
108,442,546 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2173:Impdh2
|
UTSW |
9 |
108,442,593 (GRCm39) |
splice site |
probably null |
|
|
R2438:Impdh2
|
UTSW |
9 |
108,437,815 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4273:Impdh2
|
UTSW |
9 |
108,442,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4847:Impdh2
|
UTSW |
9 |
108,442,714 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4847:Impdh2
|
UTSW |
9 |
108,441,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5073:Impdh2
|
UTSW |
9 |
108,440,535 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5896:Impdh2
|
UTSW |
9 |
108,441,165 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6315:Impdh2
|
UTSW |
9 |
108,440,638 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7172:Impdh2
|
UTSW |
9 |
108,437,809 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7182:Impdh2
|
UTSW |
9 |
108,440,407 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7241:Impdh2
|
UTSW |
9 |
108,440,636 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7640:Impdh2
|
UTSW |
9 |
108,442,380 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7969:Impdh2
|
UTSW |
9 |
108,439,505 (GRCm39) |
nonsense |
probably null |
|
|
R8079:Impdh2
|
UTSW |
9 |
108,440,524 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8728:Impdh2
|
UTSW |
9 |
108,437,562 (GRCm39) |
unclassified |
probably benign |
|
|
R8735:Impdh2
|
UTSW |
9 |
108,441,978 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8821:Impdh2
|
UTSW |
9 |
108,441,957 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8831:Impdh2
|
UTSW |
9 |
108,441,957 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9355:Impdh2
|
UTSW |
9 |
108,442,402 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9697:Impdh2
|
UTSW |
9 |
108,438,847 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
X0066:Impdh2
|
UTSW |
9 |
108,438,986 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGCCTCTGCTGTCTACATG -3'
(R):5'- GCAGGAAACAAGTCACGGTTC -3'
Sequencing Primer
(F):5'- TCTCTAGAGAGGCTGCTCC -3'
(R):5'- CTTTAATCCCAGAACTCGGGAGG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation