Incidental Mutation 'IGL01844:Mthfd2'
| ID |
178162 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mthfd2
|
| Ensembl Gene |
ENSMUSG00000005667 |
| Gene Name |
methylenetetrahydrofolate dehydrogenase (NAD+ dependent), methenyltetrahydrofolate cyclohydrolase |
| Synonyms |
NMDMC |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01844
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
83282673-83302890 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 83288792 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005810
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005810]
[ENSMUST00000203847]
[ENSMUST00000204472]
|
| AlphaFold |
P18155 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000005810
|
| SMART Domains |
Protein: ENSMUSP00000005810
Gene: ENSMUSG00000005667
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:THF_DHG_CYH
|
39 |
155 |
8.1e-45 |
PFAM |
|
Pfam:THF_DHG_CYH_C
|
158 |
332 |
7.7e-65 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139802
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141044
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141193
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203375
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203437
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203847
|
| SMART Domains |
Protein: ENSMUSP00000145266
Gene: ENSMUSG00000005667
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:THF_DHG_CYH
|
39 |
108 |
2e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204472
|
| SMART Domains |
Protein: ENSMUSP00000145222
Gene: ENSMUSG00000005667
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:THF_DHG_CYH
|
20 |
97 |
2.2e-20 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear-encoded mitochondrial bifunctional enzyme with methylenetetrahydrofolate dehydrogenase and methenyltetrahydrofolate cyclohydrolase activities. The enzyme functions as a homodimer and is unique in its absolute requirement for magnesium and inorganic phosphate. Formation of the enzyme-magnesium complex allows binding of NAD. Alternative splicing results in two different transcripts, one protein-coding and the other not protein-coding. This gene has a pseudogene on chromosome 7. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos before E15.5. [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 |
|---|
| Abcg5 |
A |
G |
17: 84,989,453 (GRCm39) |
I85T |
probably damaging |
Het |
| Amer2 |
A |
G |
14: 60,617,356 (GRCm39) |
D391G |
possibly damaging |
Het |
| Atp13a3 |
A |
T |
16: 30,180,781 (GRCm39) |
C83S |
probably benign |
Het |
| Bdh2 |
A |
T |
3: 134,994,080 (GRCm39) |
Q54L |
probably benign |
Het |
| Cep128 |
A |
G |
12: 90,975,628 (GRCm39) |
S1051P |
probably benign |
Het |
| Dop1a |
A |
G |
9: 86,396,138 (GRCm39) |
T865A |
probably damaging |
Het |
| Epha8 |
C |
A |
4: 136,658,360 (GRCm39) |
*1005L |
probably null |
Het |
| Etl4 |
T |
C |
2: 20,811,493 (GRCm39) |
V1509A |
probably benign |
Het |
| Gucy1b1 |
T |
C |
3: 81,953,833 (GRCm39) |
E161G |
possibly damaging |
Het |
| Hepacam |
T |
A |
9: 37,291,912 (GRCm39) |
V80E |
probably damaging |
Het |
| Ireb2 |
A |
G |
9: 54,772,641 (GRCm39) |
K24E |
probably benign |
Het |
| Itch |
T |
A |
2: 155,014,467 (GRCm39) |
D101E |
possibly damaging |
Het |
| Itch |
T |
A |
2: 155,014,406 (GRCm39) |
F81Y |
possibly damaging |
Het |
| Kctd16 |
A |
G |
18: 40,390,373 (GRCm39) |
I115M |
probably damaging |
Het |
| Klf7 |
C |
A |
1: 64,117,933 (GRCm39) |
Q221H |
probably benign |
Het |
| Kptn |
A |
G |
7: 15,857,897 (GRCm39) |
T242A |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,334,485 (GRCm39) |
F4420S |
probably benign |
Het |
| Mtrf1l |
A |
C |
10: 5,764,112 (GRCm39) |
L284V |
probably null |
Het |
| Neb |
C |
T |
2: 52,060,561 (GRCm39) |
V2259I |
probably benign |
Het |
| Or4c111 |
A |
T |
2: 88,843,814 (GRCm39) |
V198E |
possibly damaging |
Het |
| Or9i14 |
A |
T |
19: 13,792,180 (GRCm39) |
M258K |
possibly damaging |
Het |
| Padi1 |
A |
T |
4: 140,556,746 (GRCm39) |
C154S |
probably damaging |
Het |
| Paxip1 |
T |
C |
5: 27,956,036 (GRCm39) |
T903A |
probably benign |
Het |
| Phactr2 |
T |
A |
10: 13,129,181 (GRCm39) |
L292F |
probably benign |
Het |
| Pkhd1l1 |
G |
A |
15: 44,362,796 (GRCm39) |
|
probably benign |
Het |
| Pnpla7 |
T |
C |
2: 24,940,985 (GRCm39) |
|
probably null |
Het |
| Rif1 |
T |
A |
2: 52,002,555 (GRCm39) |
I2003K |
probably benign |
Het |
| Rxfp3 |
A |
T |
15: 11,037,132 (GRCm39) |
V80E |
probably damaging |
Het |
| Sart3 |
T |
A |
5: 113,883,709 (GRCm39) |
K768* |
probably null |
Het |
| Slc35f5 |
C |
T |
1: 125,517,612 (GRCm39) |
T470I |
probably damaging |
Het |
| Smg8 |
A |
T |
11: 86,971,102 (GRCm39) |
Y890N |
probably damaging |
Het |
| Spata31 |
T |
C |
13: 65,068,968 (GRCm39) |
V372A |
possibly damaging |
Het |
| Tbc1d30 |
A |
T |
10: 121,103,084 (GRCm39) |
D649E |
probably benign |
Het |
| Tctn3 |
G |
A |
19: 40,600,581 (GRCm39) |
T3I |
probably damaging |
Het |
| Tns3 |
G |
A |
11: 8,387,177 (GRCm39) |
P1337S |
possibly damaging |
Het |
| Vmn2r15 |
T |
A |
5: 109,434,135 (GRCm39) |
*856C |
probably null |
Het |
| Vmn2r61 |
A |
T |
7: 41,909,639 (GRCm39) |
I55F |
probably benign |
Het |
| Zbtb41 |
C |
T |
1: 139,375,065 (GRCm39) |
P842S |
probably benign |
Het |
| Zc3h13 |
A |
G |
14: 75,581,209 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Mthfd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01825:Mthfd2
|
APN |
6 |
83,287,493 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02936:Mthfd2
|
APN |
6 |
83,288,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0130:Mthfd2
|
UTSW |
6 |
83,285,990 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0862:Mthfd2
|
UTSW |
6 |
83,290,376 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1902:Mthfd2
|
UTSW |
6 |
83,283,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3431:Mthfd2
|
UTSW |
6 |
83,288,330 (GRCm39) |
missense |
probably benign |
0.30 |
|
R3732:Mthfd2
|
UTSW |
6 |
83,290,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4473:Mthfd2
|
UTSW |
6 |
83,287,517 (GRCm39) |
unclassified |
probably benign |
|
|
R5301:Mthfd2
|
UTSW |
6 |
83,287,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5730:Mthfd2
|
UTSW |
6 |
83,294,441 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7126:Mthfd2
|
UTSW |
6 |
83,290,472 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7594:Mthfd2
|
UTSW |
6 |
83,283,665 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7602:Mthfd2
|
UTSW |
6 |
83,288,830 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7916:Mthfd2
|
UTSW |
6 |
83,286,455 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9709:Mthfd2
|
UTSW |
6 |
83,283,665 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Posted On |
2014-05-07 |
Incidental Mutation