Incidental Mutation 'R2438:Impdh2'
| ID |
249702 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Impdh2
|
| Ensembl Gene |
ENSMUSG00000062867 |
| Gene Name |
inosine monophosphate dehydrogenase 2 |
| Synonyms |
IMP dehydrogenase type II |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2438 (G1)
|
| Quality Score |
144 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
108437635-108442776 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 108437815 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 28
(D28V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142117
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006851]
[ENSMUST00000074208]
[ENSMUST00000081111]
[ENSMUST00000112155]
[ENSMUST00000193421]
[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 |
probably benign
Transcript: ENSMUST00000081111
AA Change: D28V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000079888
Gene: ENSMUSG00000062867
AA Change: D28V
| 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 |
probably benign
Transcript: ENSMUST00000193421
AA Change: D28V
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000142117
Gene: ENSMUSG00000062867
AA Change: D28V
| 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: ENSMUST00000193493
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193535
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194365
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194387
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194689
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194139
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195456
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194904
|
| SMART Domains |
Protein: ENSMUSP00000142305
Gene: ENSMUSG00000062867
| Domain | Start | End | E-Value | Type |
|---|
|
IMPDH
|
1 |
319 |
5e-122 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.6%
|
| Validation Efficiency |
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
A |
G |
16: 30,936,133 (GRCm39) |
V318A |
probably damaging |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Cd8b1 |
A |
G |
6: 71,306,740 (GRCm39) |
K156E |
probably damaging |
Het |
| Ckap5 |
T |
C |
2: 91,425,753 (GRCm39) |
M1262T |
possibly damaging |
Het |
| Crebbp |
A |
G |
16: 3,972,722 (GRCm39) |
M324T |
possibly damaging |
Het |
| Cwf19l1 |
G |
A |
19: 44,099,002 (GRCm39) |
R523C |
probably benign |
Het |
| Defb21 |
A |
T |
2: 152,416,695 (GRCm39) |
Y57F |
possibly damaging |
Het |
| Ebf2 |
T |
A |
14: 67,625,391 (GRCm39) |
V233D |
probably damaging |
Het |
| Gfpt1 |
A |
T |
6: 87,034,727 (GRCm39) |
E175V |
probably null |
Het |
| Gga1 |
T |
C |
15: 78,769,498 (GRCm39) |
F157S |
probably damaging |
Het |
| Itgav |
A |
G |
2: 83,606,886 (GRCm39) |
D409G |
probably damaging |
Het |
| Krt5 |
T |
C |
15: 101,620,093 (GRCm39) |
N208S |
probably benign |
Het |
| Matcap2 |
T |
C |
9: 22,342,979 (GRCm39) |
V291A |
probably damaging |
Het |
| Myo15a |
A |
T |
11: 60,373,878 (GRCm39) |
I1242F |
probably damaging |
Het |
| Myo1g |
A |
T |
11: 6,461,542 (GRCm39) |
N636K |
probably damaging |
Het |
| Nrros |
T |
C |
16: 31,962,929 (GRCm39) |
|
probably null |
Het |
| Nrros |
C |
T |
16: 31,963,117 (GRCm39) |
G264D |
probably benign |
Het |
| Nsun4 |
A |
G |
4: 115,905,794 (GRCm39) |
V54A |
probably benign |
Het |
| Or4k49 |
A |
T |
2: 111,495,096 (GRCm39) |
D175V |
probably damaging |
Het |
| Or5b105 |
A |
T |
19: 13,079,785 (GRCm39) |
D294E |
probably benign |
Het |
| Pilrb2 |
T |
A |
5: 137,869,175 (GRCm39) |
I142L |
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,816,734 (GRCm39) |
S596P |
probably damaging |
Het |
| Sema5a |
G |
T |
15: 32,550,399 (GRCm39) |
S146I |
possibly damaging |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slc43a2 |
A |
T |
11: 75,453,957 (GRCm39) |
E290V |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Zfp456 |
A |
T |
13: 67,515,073 (GRCm39) |
I211N |
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 |
|
|
R4061:Impdh2
|
UTSW |
9 |
108,440,003 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
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'- AGTTTATATTGGCGCGGTCC -3'
(R):5'- ACTGTGTCTCACGACTCAAG -3'
Sequencing Primer
(F):5'- GGTCCGGACGGCAGAGG -3'
(R):5'- TATTGAAATCACCCTCTAAACCCCTG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation