Incidental Mutation 'R1202:Impdh2'
| ID |
100211 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Impdh2
|
| Ensembl Gene |
ENSMUSG00000062867 |
| Gene Name |
inosine monophosphate dehydrogenase 2 |
| Synonyms |
IMP dehydrogenase type II |
| MMRRC Submission |
039272-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1202 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
108437635-108442776 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 108440386 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 224
(R224Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079888
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006851]
[ENSMUST00000074208]
[ENSMUST00000081111]
[ENSMUST00000112155]
[ENSMUST00000193421]
[ENSMUST00000194904]
[ENSMUST00000194381]
|
| 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 damaging
Transcript: ENSMUST00000081111
AA Change: R224Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000079888
Gene: ENSMUSG00000062867
AA Change: R224Q
| 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 |
possibly damaging
Transcript: ENSMUST00000193421
AA Change: R199Q
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000142117
Gene: ENSMUSG00000062867
AA Change: R199Q
| 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 |
probably damaging
Transcript: ENSMUST00000194904
AA Change: R18Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142305
Gene: ENSMUSG00000062867
AA Change: R18Q
| Domain | Start | End | E-Value | Type |
|---|
|
IMPDH
|
1 |
319 |
5e-122 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194139
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195456
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194365
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194666
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193535
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194689
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194387
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194104
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193493
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194381
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.6%
- 20x: 86.8%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm1 |
T |
C |
4: 144,250,236 (GRCm39) |
F137L |
probably benign |
Het |
| Cct3 |
T |
C |
3: 88,225,835 (GRCm39) |
|
probably null |
Het |
| Fermt3 |
A |
G |
19: 6,980,850 (GRCm39) |
F294L |
probably damaging |
Het |
| Fmn2 |
A |
T |
1: 174,440,101 (GRCm39) |
K58* |
probably null |
Het |
| Fndc5 |
G |
A |
4: 129,033,238 (GRCm39) |
V102M |
probably damaging |
Het |
| Gle1 |
C |
T |
2: 29,839,277 (GRCm39) |
A523V |
probably damaging |
Het |
| Hoxd11 |
C |
T |
2: 74,512,921 (GRCm39) |
A62V |
possibly damaging |
Het |
| Il23r |
A |
G |
6: 67,455,937 (GRCm39) |
V177A |
possibly damaging |
Het |
| Larp4b |
A |
G |
13: 9,216,362 (GRCm39) |
T516A |
possibly damaging |
Het |
| Mtmr2 |
T |
C |
9: 13,714,748 (GRCm39) |
Y431H |
probably benign |
Het |
| N4bp1 |
T |
C |
8: 87,571,515 (GRCm39) |
T828A |
probably benign |
Het |
| Nphp4 |
G |
A |
4: 152,573,186 (GRCm39) |
|
probably null |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Pabpc1l |
G |
T |
2: 163,879,091 (GRCm39) |
V313F |
possibly damaging |
Het |
| Pacs1 |
G |
A |
19: 5,185,265 (GRCm39) |
P885S |
probably damaging |
Het |
| Scn3a |
T |
C |
2: 65,336,491 (GRCm39) |
N705S |
probably benign |
Het |
| Sema4g |
G |
T |
19: 44,986,696 (GRCm39) |
R383L |
probably benign |
Het |
| Slc26a10 |
A |
G |
10: 127,009,217 (GRCm39) |
L648P |
probably damaging |
Het |
| St8sia2 |
A |
T |
7: 73,621,783 (GRCm39) |
V37E |
probably benign |
Het |
| Tmem209 |
C |
G |
6: 30,508,789 (GRCm39) |
V6L |
probably benign |
Het |
| Tmprss11a |
T |
A |
5: 86,559,784 (GRCm39) |
|
probably null |
Het |
| Ube2o |
C |
T |
11: 116,432,408 (GRCm39) |
D853N |
probably damaging |
Het |
| Usp17lb |
G |
A |
7: 104,491,695 (GRCm39) |
S6F |
probably damaging |
Het |
| Vmn2r74 |
G |
A |
7: 85,610,545 (GRCm39) |
T49I |
possibly damaging |
Het |
| Zfp236 |
T |
A |
18: 82,646,291 (GRCm39) |
T1041S |
probably benign |
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 |
|
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 |
|
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'- GGCGTCACTCTGAAAGAGGCAAATG -3'
(R):5'- AGATGGAGTTTCCCTGGGAAGAGTC -3'
Sequencing Primer
(F):5'- gtcctggctgtcctagaac -3'
(R):5'- TTCCCTGGGAAGAGTCCTAGAAC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation