Incidental Mutation 'R3431:Mthfd2'
| ID |
268111 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mthfd2
|
| Ensembl Gene |
ENSMUSG00000005667 |
| Gene Name |
methylenetetrahydrofolate dehydrogenase (NAD+ dependent), methenyltetrahydrofolate cyclohydrolase |
| Synonyms |
NMDMC |
| MMRRC Submission |
040649-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3431 (G1)
|
| Quality Score |
220 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
83282673-83302890 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83288330 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 142
(R142G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005810
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005810]
[ENSMUST00000203847]
[ENSMUST00000204472]
|
| AlphaFold |
P18155 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005810
AA Change: R142G
PolyPhen 2
Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000005810
Gene: ENSMUSG00000005667
AA Change: R142G
| 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 |
0.4254 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (41/41) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
A |
G |
5: 35,746,560 (GRCm39) |
H140R |
possibly damaging |
Het |
| Adamts3 |
A |
G |
5: 89,855,312 (GRCm39) |
|
probably benign |
Het |
| Apob |
T |
G |
12: 8,060,778 (GRCm39) |
F3054V |
probably damaging |
Het |
| Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
| Calcb |
A |
T |
7: 114,319,064 (GRCm39) |
R30W |
probably damaging |
Het |
| Cbl |
T |
C |
9: 44,062,743 (GRCm39) |
*914W |
probably null |
Het |
| Chd4 |
A |
G |
6: 125,097,523 (GRCm39) |
|
probably benign |
Het |
| Clec4a2 |
A |
T |
6: 123,116,370 (GRCm39) |
|
probably null |
Het |
| Crb2 |
T |
A |
2: 37,682,229 (GRCm39) |
V870E |
probably benign |
Het |
| Cyp2c39 |
A |
G |
19: 39,525,306 (GRCm39) |
E203G |
probably damaging |
Het |
| Dhrs7 |
A |
T |
12: 72,711,501 (GRCm39) |
L12Q |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,295,413 (GRCm39) |
Y1382C |
probably benign |
Het |
| Efs |
C |
T |
14: 55,157,681 (GRCm39) |
R117Q |
probably damaging |
Het |
| Evl |
T |
C |
12: 108,614,567 (GRCm39) |
|
probably benign |
Het |
| Fbxo16 |
T |
C |
14: 65,531,233 (GRCm39) |
F46L |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,822,354 (GRCm39) |
E6029G |
possibly damaging |
Het |
| Gm20775 |
A |
T |
Y: 10,641,956 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4924 |
T |
A |
10: 82,214,864 (GRCm39) |
Y887* |
probably null |
Het |
| H60c |
G |
T |
10: 3,210,382 (GRCm39) |
R56S |
possibly damaging |
Het |
| Hbq1a |
T |
G |
11: 32,250,715 (GRCm39) |
S133A |
probably benign |
Het |
| Hhipl1 |
A |
G |
12: 108,277,948 (GRCm39) |
E92G |
probably damaging |
Het |
| Knl1 |
A |
T |
2: 118,892,843 (GRCm39) |
E46D |
probably damaging |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,360,431 (GRCm39) |
R328C |
probably damaging |
Het |
| Mmp21 |
T |
C |
7: 133,280,479 (GRCm39) |
T164A |
probably benign |
Het |
| Mup4 |
T |
G |
4: 59,959,192 (GRCm39) |
|
probably null |
Het |
| Npas3 |
A |
T |
12: 54,115,832 (GRCm39) |
Q900L |
probably damaging |
Het |
| Nr1h3 |
T |
C |
2: 91,022,205 (GRCm39) |
D141G |
probably damaging |
Het |
| Rap2a |
G |
T |
14: 120,741,170 (GRCm39) |
A158S |
possibly damaging |
Het |
| Rttn |
A |
G |
18: 89,113,695 (GRCm39) |
T1705A |
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,486,876 (GRCm39) |
V3834E |
probably damaging |
Het |
| Taf5 |
A |
C |
19: 47,064,272 (GRCm39) |
K405T |
probably damaging |
Het |
| Tbc1d19 |
T |
C |
5: 54,005,548 (GRCm39) |
|
probably benign |
Het |
| Tmem232 |
A |
T |
17: 65,572,297 (GRCm39) |
|
probably null |
Het |
| Tssk4 |
A |
G |
14: 55,889,152 (GRCm39) |
N226S |
probably damaging |
Het |
| Tulp4 |
C |
A |
17: 6,257,239 (GRCm39) |
S311R |
probably benign |
Het |
| Uggt1 |
C |
A |
1: 36,249,140 (GRCm39) |
E267* |
probably null |
Het |
| Usp34 |
T |
C |
11: 23,320,466 (GRCm39) |
I917T |
possibly damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTTTCAGACCGGGAATGCC -3'
(R):5'- TGTCCATAAAGTAGAGTGGAGGGAT -3'
Sequencing Primer
(F):5'- CGTTCATAATACTGAAACAGAAATGC -3'
(R):5'- AGTAGAGTGGAGGGATGTGGTATTTG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation