Incidental Mutation 'R4273:Impdh2'
| ID |
322281 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Impdh2
|
| Ensembl Gene |
ENSMUSG00000062867 |
| Gene Name |
inosine monophosphate dehydrogenase 2 |
| Synonyms |
IMP dehydrogenase type II |
| MMRRC Submission |
041645-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4273 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
108437635-108442776 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108442155 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 414
(M414T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079888
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006851]
[ENSMUST00000019183]
[ENSMUST00000074208]
[ENSMUST00000081111]
[ENSMUST00000112155]
[ENSMUST00000194904]
[ENSMUST00000195249]
[ENSMUST00000193421]
[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: ENSMUST00000019183
|
| SMART Domains |
Protein: ENSMUSP00000019183
Gene: ENSMUSG00000019039
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
288 |
301 |
N/A |
INTRINSIC |
|
low complexity region
|
386 |
397 |
N/A |
INTRINSIC |
|
DALR_1
|
399 |
538 |
2.09e-22 |
SMART |
|
| 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: M414T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000079888
Gene: ENSMUSG00000062867
AA Change: M414T
| 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 |
noncoding transcript
Transcript: ENSMUST00000083645
|
| 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: ENSMUST00000175174
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000194904
AA Change: M232T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142305
Gene: ENSMUSG00000062867
AA Change: M232T
| Domain | Start | End | E-Value | Type |
|---|
|
IMPDH
|
1 |
319 |
5e-122 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193493
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193242
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194104
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193535
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194365
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194689
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194666
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193044
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195456
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193193
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195249
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193421
|
| SMART Domains |
Protein: ENSMUSP00000142117
Gene: ENSMUSG00000062867
| 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 |
noncoding transcript
Transcript: ENSMUST00000196210
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.1%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer2 |
T |
A |
4: 86,792,835 (GRCm39) |
|
probably null |
Het |
| Adgrf2 |
T |
A |
17: 43,021,013 (GRCm39) |
T604S |
probably damaging |
Het |
| Akap8l |
T |
A |
17: 32,540,905 (GRCm39) |
K533* |
probably null |
Het |
| Appbp2 |
T |
C |
11: 85,125,502 (GRCm39) |
Y45C |
probably damaging |
Het |
| Arap2 |
T |
C |
5: 62,828,322 (GRCm39) |
I950V |
possibly damaging |
Het |
| Arhgap31 |
T |
C |
16: 38,422,697 (GRCm39) |
E1123G |
possibly damaging |
Het |
| Atp2c1 |
G |
T |
9: 105,312,339 (GRCm39) |
N493K |
probably benign |
Het |
| Bcr |
T |
C |
10: 74,960,943 (GRCm39) |
I458T |
probably damaging |
Het |
| Brd4 |
G |
A |
17: 32,433,756 (GRCm39) |
T468I |
probably benign |
Het |
| Cdh23 |
T |
A |
10: 60,146,940 (GRCm39) |
D2774V |
possibly damaging |
Het |
| Cfdp1 |
T |
C |
8: 112,495,417 (GRCm39) |
Y267C |
probably damaging |
Het |
| Chd6 |
C |
A |
2: 160,803,211 (GRCm39) |
A2156S |
probably benign |
Het |
| Dazap2 |
C |
A |
15: 100,515,971 (GRCm39) |
P100T |
probably damaging |
Het |
| Disp1 |
T |
A |
1: 182,869,208 (GRCm39) |
I1071F |
possibly damaging |
Het |
| Dlgap1 |
T |
A |
17: 71,073,038 (GRCm39) |
S686T |
probably benign |
Het |
| Dst |
C |
T |
1: 34,231,421 (GRCm39) |
R3183C |
possibly damaging |
Het |
| Enpp4 |
T |
C |
17: 44,412,698 (GRCm39) |
N279D |
probably benign |
Het |
| Exoc3l |
T |
C |
8: 106,016,593 (GRCm39) |
*740W |
probably null |
Het |
| Exoc5 |
A |
T |
14: 49,252,937 (GRCm39) |
C625* |
probably null |
Het |
| Fam98b |
A |
T |
2: 117,090,712 (GRCm39) |
N137Y |
possibly damaging |
Het |
| Fat4 |
T |
A |
3: 38,945,776 (GRCm39) |
D1556E |
probably damaging |
Het |
| Fcer2a |
C |
A |
8: 3,732,848 (GRCm39) |
V319L |
possibly damaging |
Het |
| Fer1l6 |
T |
C |
15: 58,499,371 (GRCm39) |
V1247A |
probably benign |
Het |
| Fmo4 |
A |
G |
1: 162,632,748 (GRCm39) |
V201A |
probably damaging |
Het |
| Fras1 |
G |
A |
5: 96,762,763 (GRCm39) |
G755D |
probably benign |
Het |
| Grid2 |
T |
C |
6: 63,886,029 (GRCm39) |
Y142H |
probably damaging |
Het |
| Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
| Ibtk |
T |
C |
9: 85,608,784 (GRCm39) |
Q376R |
probably damaging |
Het |
| Itm2c |
A |
G |
1: 85,834,750 (GRCm39) |
T160A |
probably damaging |
Het |
| Kcna2 |
T |
A |
3: 107,012,509 (GRCm39) |
D363E |
probably benign |
Het |
| Lama2 |
C |
T |
10: 27,223,050 (GRCm39) |
C412Y |
probably damaging |
Het |
| Lims2 |
C |
G |
18: 32,089,390 (GRCm39) |
T151S |
probably benign |
Het |
| Mier1 |
T |
C |
4: 103,019,628 (GRCm39) |
S423P |
possibly damaging |
Het |
| Mrgpra3 |
A |
T |
7: 47,239,180 (GRCm39) |
W249R |
probably benign |
Het |
| Mtor |
A |
G |
4: 148,634,609 (GRCm39) |
H2410R |
probably benign |
Het |
| Mvp |
C |
T |
7: 126,588,875 (GRCm39) |
A631T |
probably benign |
Het |
| Nepro |
T |
C |
16: 44,556,192 (GRCm39) |
V450A |
possibly damaging |
Het |
| Ngrn |
T |
C |
7: 79,914,269 (GRCm39) |
V140A |
probably damaging |
Het |
| Nobox |
T |
C |
6: 43,282,942 (GRCm39) |
E231G |
probably benign |
Het |
| Or10al7 |
A |
T |
17: 38,366,163 (GRCm39) |
I98N |
probably damaging |
Het |
| P3h2 |
T |
A |
16: 25,923,971 (GRCm39) |
I155F |
probably benign |
Het |
| Pcdha3 |
C |
T |
18: 37,081,144 (GRCm39) |
R629C |
probably damaging |
Het |
| Pramel24 |
A |
T |
4: 143,453,416 (GRCm39) |
K175* |
probably null |
Het |
| Riok3 |
AGAAGCGG |
AG |
18: 12,268,998 (GRCm39) |
|
probably benign |
Het |
| Rttn |
T |
C |
18: 89,110,020 (GRCm39) |
I1675T |
probably benign |
Het |
| Sall2 |
C |
A |
14: 52,551,260 (GRCm39) |
R643L |
probably damaging |
Het |
| Slc35f4 |
G |
T |
14: 49,541,758 (GRCm39) |
T182N |
possibly damaging |
Het |
| Slc52a3 |
T |
A |
2: 151,847,660 (GRCm39) |
I256N |
possibly damaging |
Het |
| Sox9 |
T |
C |
11: 112,675,980 (GRCm39) |
S390P |
possibly damaging |
Het |
| Tango2 |
T |
C |
16: 18,120,654 (GRCm39) |
|
probably benign |
Het |
| Tas1r1 |
T |
C |
4: 152,116,614 (GRCm39) |
E340G |
possibly damaging |
Het |
| Tek |
G |
A |
4: 94,718,207 (GRCm39) |
G524R |
probably damaging |
Het |
| Tmem260 |
A |
T |
14: 48,742,761 (GRCm39) |
Y532F |
probably benign |
Het |
| Tsks |
C |
A |
7: 44,607,353 (GRCm39) |
L559I |
probably damaging |
Het |
| Unc79 |
C |
A |
12: 103,088,612 (GRCm39) |
L1702I |
probably damaging |
Het |
| Vmn1r14 |
T |
A |
6: 57,211,133 (GRCm39) |
I237N |
probably damaging |
Het |
| Vmn2r17 |
G |
A |
5: 109,600,832 (GRCm39) |
C710Y |
probably benign |
Het |
| Zfp119b |
G |
T |
17: 56,245,926 (GRCm39) |
T420K |
possibly damaging |
Het |
| Zfp202 |
C |
T |
9: 40,118,790 (GRCm39) |
R68* |
probably null |
Het |
| Zfp229 |
T |
A |
17: 21,965,802 (GRCm39) |
S677R |
probably benign |
Het |
| Zfp462 |
C |
T |
4: 55,008,411 (GRCm39) |
H126Y |
probably benign |
Het |
| Zfp52 |
C |
A |
17: 21,780,459 (GRCm39) |
Y102* |
probably null |
Het |
| Zfp616 |
T |
A |
11: 73,974,526 (GRCm39) |
M265K |
probably benign |
Het |
| Zfyve9 |
A |
T |
4: 108,538,173 (GRCm39) |
I1031N |
probably damaging |
Het |
| Zmynd11 |
T |
C |
13: 9,747,726 (GRCm39) |
Y203C |
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 |
|
R4061:Impdh2
|
UTSW |
9 |
108,440,003 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
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'- ATGTGGGTCATATTGCCAAAGC -3'
(R):5'- AAACTCCTTGGGCCACTTTG -3'
Sequencing Primer
(F):5'- TGGGGCTTCCACAGGTAAG -3'
(R):5'- GGCCACTTTGATTTTGTCAGC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation