Incidental Mutation 'R4473:Mthfd2'
ID |
330457 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mthfd2
|
Ensembl Gene |
ENSMUSG00000005667 |
Gene Name |
methylenetetrahydrofolate dehydrogenase (NAD+ dependent), methenyltetrahydrofolate cyclohydrolase |
Synonyms |
NMDMC |
MMRRC Submission |
041730-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4473 (G1)
|
Quality Score |
158 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
83282673-83302890 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 83287517 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145222
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005810]
[ENSMUST00000203847]
[ENSMUST00000204472]
|
AlphaFold |
P18155 |
Predicted Effect |
probably benign
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
100% (36/36) |
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot7 |
C |
A |
4: 152,291,313 (GRCm39) |
T93K |
probably damaging |
Het |
Actg1 |
G |
A |
11: 120,239,085 (GRCm39) |
R2C |
probably benign |
Het |
Alb |
T |
C |
5: 90,611,912 (GRCm39) |
C114R |
probably damaging |
Het |
Alpk1 |
T |
C |
3: 127,473,667 (GRCm39) |
T779A |
probably damaging |
Het |
Atp2a2 |
A |
T |
5: 122,595,327 (GRCm39) |
S1008T |
probably benign |
Het |
Corin |
T |
C |
5: 72,496,400 (GRCm39) |
S510G |
probably damaging |
Het |
D630003M21Rik |
G |
A |
2: 158,055,382 (GRCm39) |
P585L |
probably damaging |
Het |
Eddm3b |
A |
G |
14: 51,354,236 (GRCm39) |
T75A |
probably benign |
Het |
Elavl2 |
T |
C |
4: 91,149,246 (GRCm39) |
|
probably null |
Het |
Erc1 |
G |
T |
6: 119,825,417 (GRCm39) |
|
probably null |
Het |
Fancf |
A |
G |
7: 51,511,948 (GRCm39) |
C19R |
probably benign |
Het |
Fastkd2 |
T |
C |
1: 63,770,833 (GRCm39) |
L63P |
probably damaging |
Het |
Fmo1 |
A |
G |
1: 162,677,732 (GRCm39) |
V128A |
possibly damaging |
Het |
Ifnar1 |
T |
C |
16: 91,292,058 (GRCm39) |
V133A |
probably damaging |
Het |
Ighv1-49 |
A |
T |
12: 115,018,959 (GRCm39) |
Y79N |
probably damaging |
Het |
Klhl23 |
A |
G |
2: 69,654,151 (GRCm39) |
E7G |
possibly damaging |
Het |
Or5d35 |
T |
A |
2: 87,855,464 (GRCm39) |
Y133N |
probably damaging |
Het |
Parn |
A |
G |
16: 13,482,549 (GRCm39) |
S100P |
probably benign |
Het |
Podnl1 |
A |
T |
8: 84,858,614 (GRCm39) |
I505F |
possibly damaging |
Het |
Ppp6r3 |
G |
T |
19: 3,561,978 (GRCm39) |
Q228K |
probably damaging |
Het |
Pramel38 |
A |
G |
5: 94,366,029 (GRCm39) |
N49S |
probably benign |
Het |
Rab22a |
C |
T |
2: 173,537,056 (GRCm39) |
T85M |
probably damaging |
Het |
Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
Skor2 |
C |
T |
18: 76,947,156 (GRCm39) |
P293S |
unknown |
Het |
Sox18 |
T |
C |
2: 181,312,669 (GRCm39) |
K154R |
probably damaging |
Het |
Tfpi |
A |
T |
2: 84,288,426 (GRCm39) |
L10Q |
probably null |
Het |
Trim66 |
A |
T |
7: 109,081,202 (GRCm39) |
I239N |
probably damaging |
Het |
Ttll1 |
T |
A |
15: 83,376,810 (GRCm39) |
K304N |
probably damaging |
Het |
Vmn1r5 |
G |
A |
6: 56,962,633 (GRCm39) |
V103I |
probably benign |
Het |
Vnn1 |
T |
C |
10: 23,770,789 (GRCm39) |
W6R |
probably benign |
Het |
Wdr35 |
A |
G |
12: 9,065,995 (GRCm39) |
Y651C |
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 |
IGL01844:Mthfd2
|
APN |
6 |
83,288,792 (GRCm39) |
critical splice donor site |
probably null |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCACAGGATGGCTTTTGAGAG -3'
(R):5'- TTGGATTTGTGACCCAGGTC -3'
Sequencing Primer
(F):5'- ACAGGATGGCTTTTGAGAGTTATCAC -3'
(R):5'- TCTGATACACATTCTAAGACAGAGC -3'
|
Posted On |
2015-07-21 |