Incidental Mutation 'R5037:Mthfd1'
| ID |
478076 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mthfd1
|
| Ensembl Gene |
ENSMUSG00000021048 |
| Gene Name |
methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase |
| Synonyms |
E430024A07Rik, Mthfd, DCS |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5037 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
76302072-76366577 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 76340914 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 258
(F258V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151500
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021443]
[ENSMUST00000220046]
|
| AlphaFold |
Q922D8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021443
AA Change: F438V
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000021443
Gene: ENSMUSG00000021048
AA Change: F438V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:THF_DHG_CYH
|
6 |
125 |
1.7e-36 |
PFAM |
|
Pfam:THF_DHG_CYH_C
|
128 |
295 |
1.1e-67 |
PFAM |
|
Pfam:FTHFS
|
317 |
935 |
4.1e-259 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218010
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218331
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218341
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218513
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220046
AA Change: F258V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a trifunctional cytoplasmic enzyme. The encoded protein functions as a methylenetetrahydrofolate dehydrogenase, a methenyltetrahydrofolate cyclohydrolase, and a formyltetrahydrofolate synthase. The encoded enzyme functions in de novo synthesis of purines and thymidylate and in regeneration of methionine from homocysteine. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit embryonic lethality. Mice heterozygous for a gene trap allele exhibit altered amino acid levels and nucleotide metabolism related to dietary folate and choline concentrations. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(57) : Targeted, other(2) Gene trapped(54) Radiation induced(1) |
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Btaf1 |
T |
C |
19: 36,980,931 (GRCm39) |
V1584A |
probably damaging |
Het |
| Ccdc136 |
A |
T |
6: 29,417,122 (GRCm39) |
S648C |
probably damaging |
Het |
| Ccna2 |
A |
G |
3: 36,625,152 (GRCm39) |
|
probably benign |
Het |
| Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
| Cenpf |
T |
C |
1: 189,416,043 (GRCm39) |
E94G |
probably damaging |
Het |
| Clic1 |
G |
A |
17: 35,274,235 (GRCm39) |
V139I |
probably benign |
Het |
| Coasy |
A |
G |
11: 100,975,648 (GRCm39) |
E327G |
probably damaging |
Het |
| Col6a5 |
C |
T |
9: 105,805,337 (GRCm39) |
E1190K |
unknown |
Het |
| Cyp2c70 |
A |
G |
19: 40,172,441 (GRCm39) |
V67A |
possibly damaging |
Het |
| Dglucy |
A |
G |
12: 100,801,500 (GRCm39) |
S52G |
probably benign |
Het |
| Dync1h1 |
A |
G |
12: 110,607,341 (GRCm39) |
N2644S |
probably benign |
Het |
| Eif4g2 |
A |
T |
7: 110,676,239 (GRCm39) |
N347K |
probably benign |
Het |
| Epha10 |
T |
C |
4: 124,809,178 (GRCm39) |
|
probably benign |
Het |
| Epm2aip1 |
T |
C |
9: 111,101,218 (GRCm39) |
F64L |
probably benign |
Het |
| Eri2 |
G |
A |
7: 119,384,897 (GRCm39) |
L535F |
probably benign |
Het |
| Garin5b |
T |
G |
7: 4,761,575 (GRCm39) |
K379T |
possibly damaging |
Het |
| Gm17430 |
T |
C |
18: 9,726,561 (GRCm39) |
E37G |
probably benign |
Het |
| Heatr5b |
T |
A |
17: 79,131,939 (GRCm39) |
Q388L |
probably benign |
Het |
| Htr1f |
A |
G |
16: 64,746,291 (GRCm39) |
W334R |
probably damaging |
Het |
| Icam4 |
A |
T |
9: 20,940,937 (GRCm39) |
C717* |
probably null |
Het |
| Iqgap1 |
A |
C |
7: 80,383,848 (GRCm39) |
L1072W |
probably damaging |
Het |
| Kbtbd11 |
G |
T |
8: 15,077,886 (GRCm39) |
A162S |
probably benign |
Het |
| Kif13b |
T |
G |
14: 64,996,038 (GRCm39) |
Y941* |
probably null |
Het |
| Kndc1 |
T |
C |
7: 139,490,371 (GRCm39) |
V291A |
possibly damaging |
Het |
| Lrrn3 |
A |
T |
12: 41,503,594 (GRCm39) |
I241N |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,349,312 (GRCm39) |
S2387P |
probably damaging |
Het |
| Msh5 |
A |
G |
17: 35,251,369 (GRCm39) |
L451S |
possibly damaging |
Het |
| Ncstn |
C |
T |
1: 171,896,193 (GRCm39) |
R495H |
probably damaging |
Het |
| Or4k2 |
T |
G |
14: 50,423,745 (GRCm39) |
T310P |
probably benign |
Het |
| Pkd1l3 |
T |
A |
8: 110,392,268 (GRCm39) |
I1954N |
probably damaging |
Het |
| Ppox |
C |
A |
1: 171,105,169 (GRCm39) |
V340L |
probably damaging |
Het |
| Prkag1 |
T |
C |
15: 98,713,768 (GRCm39) |
T21A |
possibly damaging |
Het |
| Pygo1 |
C |
A |
9: 72,852,199 (GRCm39) |
H129N |
probably damaging |
Het |
| Rad9a |
A |
T |
19: 4,247,173 (GRCm39) |
C271S |
probably benign |
Het |
| Raph1 |
T |
C |
1: 60,535,381 (GRCm39) |
|
probably null |
Het |
| Reln |
A |
G |
5: 22,153,510 (GRCm39) |
F2265L |
probably damaging |
Het |
| Shc4 |
A |
G |
2: 125,471,647 (GRCm39) |
I304T |
probably damaging |
Het |
| Slc35f3 |
T |
A |
8: 127,116,011 (GRCm39) |
L313M |
probably damaging |
Het |
| Spata31g1 |
T |
A |
4: 42,972,195 (GRCm39) |
H509Q |
probably benign |
Het |
| Spef1l |
A |
T |
7: 139,558,587 (GRCm39) |
S3R |
possibly damaging |
Het |
| Sycp2l |
T |
A |
13: 41,283,337 (GRCm39) |
M191K |
possibly damaging |
Het |
| Tmem132c |
C |
A |
5: 127,630,199 (GRCm39) |
Q579K |
probably benign |
Het |
| Trbj2-5 |
A |
G |
6: 41,520,394 (GRCm39) |
|
probably benign |
Het |
| Ttc38 |
A |
G |
15: 85,728,741 (GRCm39) |
E231G |
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,611,192 (GRCm39) |
V1375A |
probably benign |
Het |
| Vcan |
T |
A |
13: 89,852,096 (GRCm39) |
T955S |
probably damaging |
Het |
| Vmn1r89 |
T |
C |
7: 12,953,314 (GRCm39) |
C17R |
possibly damaging |
Het |
| Wnk1 |
A |
G |
6: 119,942,696 (GRCm39) |
|
probably benign |
Het |
| Zfp667 |
T |
G |
7: 6,308,949 (GRCm39) |
I539S |
possibly damaging |
Het |
| Zfp738 |
T |
A |
13: 67,818,320 (GRCm39) |
H557L |
probably damaging |
Het |
|
| Other mutations in Mthfd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00591:Mthfd1
|
APN |
12 |
76,347,213 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL01996:Mthfd1
|
APN |
12 |
76,350,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02399:Mthfd1
|
APN |
12 |
76,364,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02529:Mthfd1
|
APN |
12 |
76,350,483 (GRCm39) |
missense |
probably benign |
0.02 |
|
3-1:Mthfd1
|
UTSW |
12 |
76,361,174 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0062:Mthfd1
|
UTSW |
12 |
76,344,363 (GRCm39) |
splice site |
probably benign |
|
|
R0062:Mthfd1
|
UTSW |
12 |
76,344,363 (GRCm39) |
splice site |
probably benign |
|
|
R0732:Mthfd1
|
UTSW |
12 |
76,340,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1572:Mthfd1
|
UTSW |
12 |
76,317,193 (GRCm39) |
nonsense |
probably null |
|
|
R1918:Mthfd1
|
UTSW |
12 |
76,361,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2008:Mthfd1
|
UTSW |
12 |
76,344,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2280:Mthfd1
|
UTSW |
12 |
76,327,266 (GRCm39) |
missense |
probably benign |
0.37 |
|
R2857:Mthfd1
|
UTSW |
12 |
76,335,699 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2859:Mthfd1
|
UTSW |
12 |
76,335,699 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2997:Mthfd1
|
UTSW |
12 |
76,361,810 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3034:Mthfd1
|
UTSW |
12 |
76,336,244 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3153:Mthfd1
|
UTSW |
12 |
76,358,737 (GRCm39) |
missense |
probably benign |
|
|
R3412:Mthfd1
|
UTSW |
12 |
76,350,523 (GRCm39) |
splice site |
probably null |
|
|
R4135:Mthfd1
|
UTSW |
12 |
76,329,648 (GRCm39) |
splice site |
probably null |
|
|
R4245:Mthfd1
|
UTSW |
12 |
76,348,047 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4498:Mthfd1
|
UTSW |
12 |
76,361,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4573:Mthfd1
|
UTSW |
12 |
76,340,912 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5022:Mthfd1
|
UTSW |
12 |
76,341,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5022:Mthfd1
|
UTSW |
12 |
76,348,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5455:Mthfd1
|
UTSW |
12 |
76,348,062 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5879:Mthfd1
|
UTSW |
12 |
76,340,992 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5902:Mthfd1
|
UTSW |
12 |
76,337,826 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6119:Mthfd1
|
UTSW |
12 |
76,350,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6199:Mthfd1
|
UTSW |
12 |
76,350,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6199:Mthfd1
|
UTSW |
12 |
76,335,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6931:Mthfd1
|
UTSW |
12 |
76,350,472 (GRCm39) |
missense |
probably benign |
|
|
R7405:Mthfd1
|
UTSW |
12 |
76,358,648 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7658:Mthfd1
|
UTSW |
12 |
76,317,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8053:Mthfd1
|
UTSW |
12 |
76,327,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8493:Mthfd1
|
UTSW |
12 |
76,340,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8914:Mthfd1
|
UTSW |
12 |
76,329,710 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9002:Mthfd1
|
UTSW |
12 |
76,350,754 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9003:Mthfd1
|
UTSW |
12 |
76,350,754 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9004:Mthfd1
|
UTSW |
12 |
76,350,754 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9019:Mthfd1
|
UTSW |
12 |
76,350,754 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9103:Mthfd1
|
UTSW |
12 |
76,350,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9136:Mthfd1
|
UTSW |
12 |
76,350,649 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0012:Mthfd1
|
UTSW |
12 |
76,361,182 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
Z1176:Mthfd1
|
UTSW |
12 |
76,350,741 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAGTTGTTTCAAAGGCCAG -3'
(R):5'- TACTGTCATGGCACCAAAAGAC -3'
Sequencing Primer
(F):5'- TAGATCAGTCTGGCCTCGAACTG -3'
(R):5'- GACCAATACTAATTCAGGTACCCC -3'
|
| Posted On |
2017-05-23 |
Incidental Mutation