Incidental Mutation 'R6315:Impdh2'
ID |
510599 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Impdh2
|
Ensembl Gene |
ENSMUSG00000062867 |
Gene Name |
inosine monophosphate dehydrogenase 2 |
Synonyms |
IMP dehydrogenase type II |
MMRRC Submission |
044472-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6315 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
108437635-108442776 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 108440638 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 280
(S280P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079888
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006851]
[ENSMUST00000074208]
[ENSMUST00000081111]
[ENSMUST00000112155]
[ENSMUST00000194904]
[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: 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: S280P
PolyPhen 2
Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000079888 Gene: ENSMUSG00000062867 AA Change: S280P
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: ENSMUST00000175174
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193193
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193242
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194904
AA Change: S74P
PolyPhen 2
Score 0.346 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000142305 Gene: ENSMUSG00000062867 AA Change: S74P
Domain | Start | End | E-Value | Type |
IMPDH
|
1 |
319 |
5e-122 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195456
|
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 |
noncoding transcript
Transcript: ENSMUST00000196210
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193535
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194139
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194387
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194104
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193493
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194381
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194365
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194689
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194666
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
97% (64/66) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
T |
C |
7: 119,945,315 (GRCm39) |
Y464H |
probably damaging |
Het |
Ahnak |
T |
C |
19: 8,983,990 (GRCm39) |
M1758T |
probably damaging |
Het |
Ak9 |
A |
T |
10: 41,282,837 (GRCm39) |
D1201V |
possibly damaging |
Het |
Amdhd2 |
A |
C |
17: 24,377,330 (GRCm39) |
H203Q |
probably benign |
Het |
Ano3 |
A |
G |
2: 110,527,384 (GRCm39) |
M608T |
probably damaging |
Het |
Arhgef4 |
G |
A |
1: 34,762,558 (GRCm39) |
A605T |
unknown |
Het |
Atp1a2 |
C |
G |
1: 172,116,903 (GRCm39) |
R238P |
probably damaging |
Het |
Atp8b1 |
C |
A |
18: 64,664,550 (GRCm39) |
R1206L |
probably damaging |
Het |
B4galt5 |
A |
T |
2: 167,147,729 (GRCm39) |
N215K |
probably damaging |
Het |
Bpifa1 |
A |
G |
2: 153,987,996 (GRCm39) |
K180E |
possibly damaging |
Het |
Cadm1 |
C |
T |
9: 47,721,417 (GRCm39) |
T269M |
probably damaging |
Het |
Cadm3 |
T |
C |
1: 173,171,919 (GRCm39) |
D252G |
probably benign |
Het |
Ccdc18 |
A |
G |
5: 108,309,448 (GRCm39) |
R348G |
probably benign |
Het |
Cers4 |
G |
A |
8: 4,566,980 (GRCm39) |
C94Y |
probably benign |
Het |
Cfap58 |
G |
A |
19: 47,929,716 (GRCm39) |
R59H |
probably benign |
Het |
Col19a1 |
C |
T |
1: 24,565,533 (GRCm39) |
G266D |
unknown |
Het |
Col6a5 |
G |
T |
9: 105,759,169 (GRCm39) |
F2012L |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,168,588 (GRCm39) |
Q445R |
probably benign |
Het |
Dsg3 |
A |
G |
18: 20,657,643 (GRCm39) |
S238G |
probably benign |
Het |
E130308A19Rik |
G |
A |
4: 59,691,132 (GRCm39) |
S322N |
probably benign |
Het |
Eif5b |
A |
G |
1: 38,057,114 (GRCm39) |
D57G |
unknown |
Het |
Fbn2 |
T |
C |
18: 58,188,025 (GRCm39) |
|
probably null |
Het |
Fbxo38 |
A |
T |
18: 62,669,218 (GRCm39) |
C77* |
probably null |
Het |
Fgb |
T |
A |
3: 82,952,362 (GRCm39) |
Q169L |
probably benign |
Het |
Fut9 |
A |
T |
4: 25,619,774 (GRCm39) |
Y347N |
probably damaging |
Het |
Gabrg2 |
T |
C |
11: 41,862,688 (GRCm39) |
K132R |
probably damaging |
Het |
Gpn3 |
C |
T |
5: 122,510,638 (GRCm39) |
|
probably benign |
Het |
Helz2 |
A |
G |
2: 180,874,995 (GRCm39) |
L1833P |
probably damaging |
Het |
Hk3 |
C |
T |
13: 55,158,970 (GRCm39) |
D484N |
probably benign |
Het |
Icam4 |
T |
C |
9: 20,941,248 (GRCm39) |
V129A |
probably damaging |
Het |
Impg1 |
C |
A |
9: 80,301,356 (GRCm39) |
G267V |
probably benign |
Het |
Iqgap1 |
C |
T |
7: 80,449,638 (GRCm39) |
V39M |
possibly damaging |
Het |
Lyst |
A |
G |
13: 13,818,089 (GRCm39) |
N1253S |
probably benign |
Het |
Mgat4b |
T |
A |
11: 50,122,591 (GRCm39) |
V195E |
probably damaging |
Het |
Mrgprb8 |
C |
T |
7: 48,038,983 (GRCm39) |
T218I |
probably damaging |
Het |
Myrfl |
T |
G |
10: 116,658,724 (GRCm39) |
E411A |
possibly damaging |
Het |
Myt1l |
T |
C |
12: 29,877,797 (GRCm39) |
S483P |
unknown |
Het |
Neil2 |
A |
G |
14: 63,420,920 (GRCm39) |
V80A |
possibly damaging |
Het |
Nfe2l2 |
G |
T |
2: 75,507,163 (GRCm39) |
D312E |
probably damaging |
Het |
Nin |
A |
T |
12: 70,092,389 (GRCm39) |
L640Q |
probably damaging |
Het |
Nup205 |
T |
A |
6: 35,213,804 (GRCm39) |
I1732N |
probably damaging |
Het |
Nup42 |
T |
C |
5: 24,372,502 (GRCm39) |
S97P |
probably damaging |
Het |
Or5b114-ps1 |
T |
C |
19: 13,352,769 (GRCm39) |
C148R |
unknown |
Het |
Or5k16 |
A |
C |
16: 58,736,609 (GRCm39) |
Y132D |
probably damaging |
Het |
Plcb1 |
A |
T |
2: 135,188,261 (GRCm39) |
T785S |
probably benign |
Het |
Plch1 |
C |
T |
3: 63,688,811 (GRCm39) |
W131* |
probably null |
Het |
Ppp1r1b |
A |
G |
11: 98,246,216 (GRCm39) |
E66G |
probably damaging |
Het |
Ros1 |
A |
T |
10: 51,994,306 (GRCm39) |
W1325R |
probably benign |
Het |
Sec14l5 |
A |
C |
16: 4,998,141 (GRCm39) |
E500A |
possibly damaging |
Het |
Sirpb1c |
A |
G |
3: 15,886,470 (GRCm39) |
V302A |
possibly damaging |
Het |
Spata19 |
T |
C |
9: 27,312,133 (GRCm39) |
Y107H |
possibly damaging |
Het |
Sv2a |
G |
A |
3: 96,095,502 (GRCm39) |
M298I |
probably benign |
Het |
Tdrd6 |
A |
T |
17: 43,937,229 (GRCm39) |
M1273K |
probably benign |
Het |
Tectb |
A |
G |
19: 55,179,904 (GRCm39) |
H250R |
possibly damaging |
Het |
Trip11 |
T |
G |
12: 101,851,837 (GRCm39) |
E742D |
possibly damaging |
Het |
Tslp |
A |
G |
18: 32,950,143 (GRCm39) |
T71A |
probably benign |
Het |
Usp20 |
C |
T |
2: 30,907,770 (GRCm39) |
R711C |
possibly damaging |
Het |
Vmn1r181 |
G |
A |
7: 23,684,183 (GRCm39) |
R216Q |
probably benign |
Het |
Vmn2r8 |
A |
T |
5: 108,949,757 (GRCm39) |
F363L |
probably benign |
Het |
Vsnl1 |
T |
A |
12: 11,382,156 (GRCm39) |
N75I |
probably damaging |
Het |
Wdr55 |
A |
T |
18: 36,895,122 (GRCm39) |
D96V |
probably damaging |
Het |
Wls |
T |
A |
3: 159,640,007 (GRCm39) |
|
probably null |
Het |
Zc3h13 |
A |
G |
14: 75,546,355 (GRCm39) |
D152G |
probably damaging |
Het |
Zc3h18 |
A |
G |
8: 123,110,604 (GRCm39) |
E151G |
probably benign |
Het |
Zfat |
A |
G |
15: 67,956,311 (GRCm39) |
S1174P |
probably damaging |
Het |
Zfyve9 |
T |
A |
4: 108,531,685 (GRCm39) |
T416S |
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 |
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 |
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'- TGGCACTCATGAGGATGACAAG -3'
(R):5'- AGATGGAACCACTTCCCATG -3'
Sequencing Primer
(F):5'- CAAGTATAGGCTGGACTTACTGGCC -3'
(R):5'- GCATCTACACCTGCATCTATGAGG -3'
|
Posted On |
2018-04-02 |