Incidental Mutation 'R7969:Impdh2'
ID |
650509 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Impdh2
|
Ensembl Gene |
ENSMUSG00000062867 |
Gene Name |
inosine monophosphate dehydrogenase 2 |
Synonyms |
IMP dehydrogenase type II |
MMRRC Submission |
046012-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7969 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
108437635-108442776 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 108439505 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 153
(R153*)
|
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 |
probably null
Transcript: ENSMUST00000081111
AA Change: R153*
|
SMART Domains |
Protein: ENSMUSP00000079888 Gene: ENSMUSG00000062867 AA Change: R153*
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 null
Transcript: ENSMUST00000193421
AA Change: R128*
|
SMART Domains |
Protein: ENSMUSP00000142117 Gene: ENSMUSG00000062867 AA Change: R128*
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 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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
Ahcyl2 |
T |
A |
6: 29,870,663 (GRCm39) |
I193N |
probably damaging |
Het |
Amotl2 |
C |
T |
9: 102,600,968 (GRCm39) |
T345I |
probably benign |
Het |
Atf6b |
A |
T |
17: 34,867,549 (GRCm39) |
|
probably null |
Het |
Cacna1s |
T |
G |
1: 136,004,470 (GRCm39) |
F337C |
probably damaging |
Het |
Cep85l |
T |
C |
10: 53,174,280 (GRCm39) |
I488V |
probably damaging |
Het |
Cmas |
T |
A |
6: 142,720,892 (GRCm39) |
D375E |
probably damaging |
Het |
Cnga4 |
T |
C |
7: 105,055,253 (GRCm39) |
F279S |
probably damaging |
Het |
Cyp4f37 |
T |
C |
17: 32,844,181 (GRCm39) |
V95A |
probably benign |
Het |
Dao |
AGG |
AG |
5: 114,153,270 (GRCm39) |
|
probably benign |
Het |
Dlg2 |
T |
C |
7: 92,066,466 (GRCm39) |
F235S |
probably benign |
Het |
Dmxl2 |
T |
C |
9: 54,354,165 (GRCm39) |
D427G |
possibly damaging |
Het |
Efl1 |
T |
C |
7: 82,342,178 (GRCm39) |
Y529H |
probably benign |
Het |
Epx |
C |
T |
11: 87,763,547 (GRCm39) |
M224I |
probably benign |
Het |
Fetub |
A |
G |
16: 22,748,449 (GRCm39) |
R101G |
possibly damaging |
Het |
Fubp1 |
T |
A |
3: 151,927,883 (GRCm39) |
|
probably null |
Het |
Kcnj12 |
C |
T |
11: 60,960,430 (GRCm39) |
Q243* |
probably null |
Het |
Lrrn1 |
T |
A |
6: 107,544,811 (GRCm39) |
V203E |
probably damaging |
Het |
Meikin |
T |
C |
11: 54,300,536 (GRCm39) |
S338P |
possibly damaging |
Het |
Myl10 |
A |
T |
5: 136,729,707 (GRCm39) |
|
probably null |
Het |
Nt5c3b |
T |
C |
11: 100,325,567 (GRCm39) |
K120E |
possibly damaging |
Het |
Or10al2 |
T |
A |
17: 37,983,547 (GRCm39) |
L211H |
probably damaging |
Het |
Or2h1b |
T |
A |
17: 37,462,077 (GRCm39) |
N262I |
possibly damaging |
Het |
Or6c1 |
G |
A |
10: 129,517,699 (GRCm39) |
T303I |
probably benign |
Het |
Or6c75 |
T |
C |
10: 129,337,716 (GRCm39) |
L313S |
probably benign |
Het |
Pdzd7 |
A |
G |
19: 45,024,664 (GRCm39) |
S452P |
probably benign |
Het |
Prune2 |
A |
G |
19: 17,179,034 (GRCm39) |
I2982V |
probably damaging |
Het |
Ptpdc1 |
G |
A |
13: 48,740,577 (GRCm39) |
R285C |
probably damaging |
Het |
Raf1 |
T |
C |
6: 115,597,249 (GRCm39) |
D486G |
probably damaging |
Het |
Rbm27 |
A |
T |
18: 42,408,545 (GRCm39) |
|
probably benign |
Het |
Slit2 |
A |
G |
5: 48,461,378 (GRCm39) |
Y1475C |
possibly damaging |
Het |
Snx14 |
G |
A |
9: 88,295,613 (GRCm39) |
T184M |
probably damaging |
Het |
Tgm5 |
G |
T |
2: 120,905,650 (GRCm39) |
N168K |
probably damaging |
Het |
Ugt2b38 |
A |
G |
5: 87,571,891 (GRCm39) |
V47A |
probably benign |
Het |
Ush2a |
A |
G |
1: 188,558,568 (GRCm39) |
H3599R |
probably benign |
Het |
Veph1 |
T |
C |
3: 66,122,896 (GRCm39) |
E211G |
possibly damaging |
Het |
Wapl |
T |
A |
14: 34,452,604 (GRCm39) |
H832Q |
probably damaging |
Het |
Zfp281 |
T |
A |
1: 136,553,772 (GRCm39) |
V250D |
probably benign |
Het |
Zfp36l2 |
A |
G |
17: 84,493,252 (GRCm39) |
S462P |
unknown |
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 |
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 |
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'- CCTTTAGAACAGGGGCCTGATG -3'
(R):5'- ACATAGCTGAGCATTTTCCTTGG -3'
Sequencing Primer
(F):5'- GGGCCTGATGACAGTGATATC -3'
(R):5'- CTGAGCATTTTCCTTGGACAGG -3'
|
Posted On |
2020-09-15 |