Incidental Mutation 'R8935:Idh1'
ID |
680544 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Idh1
|
Ensembl Gene |
ENSMUSG00000025950 |
Gene Name |
isocitrate dehydrogenase 1 (NADP+), soluble |
Synonyms |
IDPc, Idh-1, Id-1, E030024J03Rik |
MMRRC Submission |
068778-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8935 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
65197775-65225638 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 65204378 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 244
(I244N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127307
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097709]
[ENSMUST00000149310]
[ENSMUST00000169032]
[ENSMUST00000188109]
[ENSMUST00000188876]
|
AlphaFold |
O88844 |
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000095316 Gene: ENSMUSG00000025950 AA Change: I244N
Domain | Start | End | E-Value | Type |
Iso_dh
|
9 |
401 |
1.05e-133 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149310
|
SMART Domains |
Protein: ENSMUSP00000117853 Gene: ENSMUSG00000025950
Domain | Start | End | E-Value | Type |
Iso_dh
|
9 |
143 |
1.74e-1 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000169032
AA Change: I244N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000127307 Gene: ENSMUSG00000025950 AA Change: I244N
Domain | Start | End | E-Value | Type |
Iso_dh
|
9 |
401 |
1.05e-133 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188109
|
SMART Domains |
Protein: ENSMUSP00000140757 Gene: ENSMUSG00000025950
Domain | Start | End | E-Value | Type |
Iso_dh
|
9 |
202 |
1.1e-10 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188876
|
SMART Domains |
Protein: ENSMUSP00000139906 Gene: ENSMUSG00000025950
Domain | Start | End | E-Value | Type |
Iso_dh
|
9 |
187 |
2.2e-9 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (61/61) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. Each NADP(+)-dependent isozyme is a homodimer. The protein encoded by this gene is the NADP(+)-dependent isocitrate dehydrogenase found in the cytoplasm and peroxisomes. It contains the PTS-1 peroxisomal targeting signal sequence. The presence of this enzyme in peroxisomes suggests roles in the regeneration of NADPH for intraperoxisomal reductions, such as the conversion of 2, 4-dienoyl-CoAs to 3-enoyl-CoAs, as well as in peroxisomal reactions that consume 2-oxoglutarate, namely the alpha-hydroxylation of phytanic acid. The cytoplasmic enzyme serves a significant role in cytoplasmic NADPH production. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2013] PHENOTYPE: Electrophoretic variation has been shown in tissues of liver, kidney, spleen and muscle. Strains C57BL/6, C3H/He carry the a allele; DBA/2 carries the b allele; M.m. castaneus and M.m. molossinus carry the c allele; the d allele is found at low frequencyin M. m. molossinus in Japan. [provided by MGI curators]
|
Allele List at MGI |
All alleles(14) : Targeted, other(3) Gene trapped(11)
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030J22Rik |
G |
T |
8: 117,698,181 (GRCm39) |
Q309K |
probably benign |
Het |
Adam20 |
T |
C |
8: 41,247,989 (GRCm39) |
V33A |
probably benign |
Het |
Ank |
T |
C |
15: 27,591,112 (GRCm39) |
V417A |
probably damaging |
Het |
Arhgef17 |
C |
T |
7: 100,527,324 (GRCm39) |
V779I |
probably benign |
Het |
Atp6v0a1 |
T |
A |
11: 100,929,519 (GRCm39) |
F440I |
possibly damaging |
Het |
Brca2 |
T |
G |
5: 150,492,446 (GRCm39) |
S3154A |
possibly damaging |
Het |
Cdc27 |
T |
C |
11: 104,398,026 (GRCm39) |
E778G |
probably damaging |
Het |
Cep128 |
C |
T |
12: 91,233,770 (GRCm39) |
E433K |
probably damaging |
Het |
Cep192 |
C |
T |
18: 67,995,543 (GRCm39) |
T970I |
probably damaging |
Het |
Chd2 |
T |
C |
7: 73,153,210 (GRCm39) |
T249A |
possibly damaging |
Het |
Cpd |
C |
T |
11: 76,731,295 (GRCm39) |
G304S |
probably damaging |
Het |
Cpsf7 |
T |
A |
19: 10,509,345 (GRCm39) |
Y85* |
probably null |
Het |
Csf3r |
T |
A |
4: 125,937,200 (GRCm39) |
S695T |
probably benign |
Het |
Cyp20a1 |
A |
G |
1: 60,410,473 (GRCm39) |
Q258R |
probably damaging |
Het |
Ddi2 |
A |
T |
4: 141,412,600 (GRCm39) |
L104Q |
probably damaging |
Het |
Dpp8 |
T |
C |
9: 64,983,066 (GRCm39) |
S733P |
possibly damaging |
Het |
Efhd1 |
A |
G |
1: 87,217,219 (GRCm39) |
D112G |
probably damaging |
Het |
Elapor2 |
C |
T |
5: 9,491,764 (GRCm39) |
T708M |
probably damaging |
Het |
Fgfr3 |
A |
C |
5: 33,892,810 (GRCm39) |
D752A |
probably damaging |
Het |
Fmod |
C |
A |
1: 133,968,586 (GRCm39) |
H209N |
probably benign |
Het |
Gde1 |
C |
T |
7: 118,297,914 (GRCm39) |
E101K |
possibly damaging |
Het |
Gldc |
C |
T |
19: 30,109,093 (GRCm39) |
R615Q |
probably benign |
Het |
Gli2 |
T |
C |
1: 118,764,122 (GRCm39) |
E1343G |
probably damaging |
Het |
Gm10800 |
A |
AC |
2: 98,497,378 (GRCm39) |
|
probably null |
Het |
Gm4847 |
A |
G |
1: 166,469,789 (GRCm39) |
Y95H |
probably damaging |
Het |
Grid1 |
G |
A |
14: 35,043,664 (GRCm39) |
D340N |
probably damaging |
Het |
Gtpbp3 |
A |
G |
8: 71,945,181 (GRCm39) |
|
probably null |
Het |
Haspin |
A |
G |
11: 73,026,890 (GRCm39) |
F733S |
probably damaging |
Het |
Hgh1 |
C |
G |
15: 76,254,592 (GRCm39) |
R323G |
probably damaging |
Het |
Idh2 |
T |
C |
7: 79,764,946 (GRCm39) |
T27A |
probably benign |
Het |
Igkv4-69 |
T |
C |
6: 69,260,912 (GRCm39) |
T72A |
possibly damaging |
Het |
Lmntd1 |
A |
G |
6: 145,489,229 (GRCm39) |
Y11H |
probably benign |
Het |
Myt1l |
T |
C |
12: 29,877,243 (GRCm39) |
M298T |
unknown |
Het |
Neb |
T |
C |
2: 52,141,780 (GRCm39) |
D3009G |
probably damaging |
Het |
Nfya |
A |
T |
17: 48,700,294 (GRCm39) |
|
probably benign |
Het |
Nsun2 |
A |
G |
13: 69,767,586 (GRCm39) |
D180G |
probably damaging |
Het |
Or10ag60 |
A |
G |
2: 87,438,421 (GRCm39) |
T230A |
possibly damaging |
Het |
Or4k50-ps1 |
A |
T |
2: 111,522,244 (GRCm39) |
Q127L |
unknown |
Het |
Osbpl6 |
T |
C |
2: 76,379,800 (GRCm39) |
V130A |
possibly damaging |
Het |
Prss44 |
T |
A |
9: 110,645,527 (GRCm39) |
I94N |
probably damaging |
Het |
Rbm6 |
C |
T |
9: 107,677,945 (GRCm39) |
V15I |
probably benign |
Het |
Rdh19 |
C |
T |
10: 127,685,929 (GRCm39) |
L14F |
possibly damaging |
Het |
Rtkn |
T |
C |
6: 83,115,196 (GRCm39) |
L14P |
probably damaging |
Het |
Ryr3 |
A |
T |
2: 112,508,402 (GRCm39) |
N3405K |
probably benign |
Het |
Scp2 |
T |
C |
4: 107,950,072 (GRCm39) |
E179G |
probably damaging |
Het |
Sema3e |
A |
T |
5: 14,282,127 (GRCm39) |
K421I |
probably damaging |
Het |
Sorcs2 |
C |
T |
5: 36,193,202 (GRCm39) |
V755M |
possibly damaging |
Het |
Spef2 |
T |
C |
15: 9,607,436 (GRCm39) |
I1328V |
probably damaging |
Het |
Speg |
A |
T |
1: 75,399,250 (GRCm39) |
K2232N |
probably benign |
Het |
St7l |
A |
G |
3: 104,778,204 (GRCm39) |
I114V |
probably damaging |
Het |
Stkld1 |
C |
T |
2: 26,833,941 (GRCm39) |
Q143* |
probably null |
Het |
Stox2 |
T |
C |
8: 47,645,895 (GRCm39) |
T586A |
possibly damaging |
Het |
Supt20 |
A |
G |
3: 54,634,988 (GRCm39) |
|
probably null |
Het |
Tectb |
G |
T |
19: 55,183,132 (GRCm39) |
V338L |
probably benign |
Het |
Tiam1 |
T |
C |
16: 89,681,821 (GRCm39) |
N386D |
probably damaging |
Het |
Trps1 |
G |
A |
15: 50,752,344 (GRCm39) |
Q2* |
probably null |
Het |
Usp36 |
C |
T |
11: 118,167,657 (GRCm39) |
|
probably null |
Het |
Vmn1r198 |
C |
T |
13: 22,539,092 (GRCm39) |
Q104* |
probably null |
Het |
Vmn1r38 |
T |
C |
6: 66,753,979 (GRCm39) |
T46A |
probably benign |
Het |
Vmn2r110 |
A |
G |
17: 20,803,957 (GRCm39) |
V206A |
probably benign |
Het |
Vmn2r62 |
T |
A |
7: 42,437,791 (GRCm39) |
D231V |
probably benign |
Het |
Zfp143 |
T |
C |
7: 109,669,736 (GRCm39) |
L55P |
probably damaging |
Het |
|
Other mutations in Idh1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00786:Idh1
|
APN |
1 |
65,205,402 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00790:Idh1
|
APN |
1 |
65,205,281 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL00979:Idh1
|
APN |
1 |
65,210,308 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01397:Idh1
|
APN |
1 |
65,207,754 (GRCm39) |
missense |
possibly damaging |
0.62 |
IGL02226:Idh1
|
APN |
1 |
65,201,081 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02933:Idh1
|
APN |
1 |
65,201,072 (GRCm39) |
missense |
probably damaging |
1.00 |
B5639:Idh1
|
UTSW |
1 |
65,204,257 (GRCm39) |
critical splice donor site |
probably null |
|
R0310:Idh1
|
UTSW |
1 |
65,201,079 (GRCm39) |
missense |
probably damaging |
1.00 |
R0865:Idh1
|
UTSW |
1 |
65,200,315 (GRCm39) |
missense |
probably benign |
|
R1172:Idh1
|
UTSW |
1 |
65,200,319 (GRCm39) |
missense |
probably benign |
0.00 |
R1173:Idh1
|
UTSW |
1 |
65,200,319 (GRCm39) |
missense |
probably benign |
0.00 |
R1174:Idh1
|
UTSW |
1 |
65,200,319 (GRCm39) |
missense |
probably benign |
0.00 |
R1535:Idh1
|
UTSW |
1 |
65,207,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R1833:Idh1
|
UTSW |
1 |
65,200,273 (GRCm39) |
missense |
probably benign |
|
R2135:Idh1
|
UTSW |
1 |
65,201,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R5434:Idh1
|
UTSW |
1 |
65,214,495 (GRCm39) |
missense |
probably benign |
0.00 |
R5478:Idh1
|
UTSW |
1 |
65,200,997 (GRCm39) |
missense |
probably benign |
0.04 |
R5633:Idh1
|
UTSW |
1 |
65,204,295 (GRCm39) |
missense |
probably damaging |
1.00 |
R6152:Idh1
|
UTSW |
1 |
65,198,689 (GRCm39) |
missense |
probably damaging |
1.00 |
R6249:Idh1
|
UTSW |
1 |
65,205,378 (GRCm39) |
missense |
probably damaging |
1.00 |
R6252:Idh1
|
UTSW |
1 |
65,207,690 (GRCm39) |
missense |
probably benign |
|
R7238:Idh1
|
UTSW |
1 |
65,205,284 (GRCm39) |
missense |
probably damaging |
1.00 |
R7754:Idh1
|
UTSW |
1 |
65,198,649 (GRCm39) |
missense |
probably benign |
0.00 |
R7819:Idh1
|
UTSW |
1 |
65,204,277 (GRCm39) |
missense |
probably damaging |
1.00 |
R8064:Idh1
|
UTSW |
1 |
65,205,338 (GRCm39) |
missense |
probably damaging |
1.00 |
R8078:Idh1
|
UTSW |
1 |
65,200,225 (GRCm39) |
missense |
probably damaging |
0.97 |
R8187:Idh1
|
UTSW |
1 |
65,198,700 (GRCm39) |
missense |
probably damaging |
0.98 |
R8778:Idh1
|
UTSW |
1 |
65,204,347 (GRCm39) |
frame shift |
probably null |
|
R8779:Idh1
|
UTSW |
1 |
65,204,347 (GRCm39) |
frame shift |
probably null |
|
R8791:Idh1
|
UTSW |
1 |
65,204,347 (GRCm39) |
frame shift |
probably null |
|
R8794:Idh1
|
UTSW |
1 |
65,204,347 (GRCm39) |
frame shift |
probably null |
|
R8795:Idh1
|
UTSW |
1 |
65,204,347 (GRCm39) |
frame shift |
probably null |
|
R8799:Idh1
|
UTSW |
1 |
65,204,347 (GRCm39) |
frame shift |
probably null |
|
R8802:Idh1
|
UTSW |
1 |
65,204,347 (GRCm39) |
frame shift |
probably null |
|
R8805:Idh1
|
UTSW |
1 |
65,204,347 (GRCm39) |
frame shift |
probably null |
|
R9243:Idh1
|
UTSW |
1 |
65,207,656 (GRCm39) |
critical splice donor site |
probably null |
|
R9326:Idh1
|
UTSW |
1 |
65,205,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGAATATCCTCGCTGCCAG -3'
(R):5'- ATGAGAGATGGCCACTTTGAG -3'
Sequencing Primer
(F):5'- AGCCGGCATGTGCTTCCTC -3'
(R):5'- CACTTTGAGGGTCTAGGATAGGAATC -3'
|
Posted On |
2021-08-31 |