Incidental Mutation 'R4498:Mthfd1'
ID |
331709 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mthfd1
|
Ensembl Gene |
ENSMUSG00000021048 |
Gene Name |
methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase |
Synonyms |
E430024A07Rik, Mthfd, DCS |
MMRRC Submission |
041751-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4498 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
76302072-76366577 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 76361764 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 123
(L123F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151668
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021443]
[ENSMUST00000220046]
[ENSMUST00000220321]
|
AlphaFold |
Q922D8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021443
AA Change: L869F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000021443 Gene: ENSMUSG00000021048 AA Change: L869F
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 |
probably damaging
Transcript: ENSMUST00000220046
AA Change: L689F
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000220321
AA Change: L123F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Meta Mutation Damage Score |
0.2632 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
91% (53/58) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aco2 |
G |
A |
15: 81,779,486 (GRCm39) |
A97T |
probably damaging |
Het |
Acot9 |
T |
A |
X: 154,047,064 (GRCm39) |
L18* |
probably null |
Het |
Arhgap12 |
A |
T |
18: 6,111,774 (GRCm39) |
C69S |
probably damaging |
Het |
Ccdc17 |
G |
T |
4: 116,454,438 (GRCm39) |
|
probably benign |
Het |
Ctnnd2 |
A |
C |
15: 30,620,020 (GRCm39) |
D124A |
probably damaging |
Het |
Cux1 |
T |
C |
5: 136,341,847 (GRCm39) |
N424S |
probably damaging |
Het |
Dhrs7c |
T |
C |
11: 67,706,706 (GRCm39) |
F214S |
possibly damaging |
Het |
Fat2 |
T |
C |
11: 55,160,923 (GRCm39) |
D3269G |
possibly damaging |
Het |
Fhod3 |
T |
A |
18: 25,243,296 (GRCm39) |
|
probably null |
Het |
Glul |
G |
T |
1: 153,782,849 (GRCm39) |
G187* |
probably null |
Het |
Gnmt |
ATTAGGGGATGGTCTTAGGG |
ATTAGGG |
17: 47,036,662 (GRCm39) |
294 |
probably benign |
Het |
H2-Q7 |
A |
T |
17: 35,658,506 (GRCm39) |
Y48F |
probably damaging |
Het |
Hes3 |
T |
C |
4: 152,371,542 (GRCm39) |
T136A |
probably benign |
Het |
Krt40 |
T |
C |
11: 99,433,900 (GRCm39) |
T29A |
possibly damaging |
Het |
Lrrc37a |
C |
A |
11: 103,392,624 (GRCm39) |
D934Y |
probably benign |
Het |
Mctp2 |
T |
A |
7: 71,833,599 (GRCm39) |
D581V |
probably damaging |
Het |
Med27 |
T |
C |
2: 29,361,354 (GRCm39) |
S38P |
probably damaging |
Het |
Mff |
A |
G |
1: 82,719,501 (GRCm39) |
|
probably benign |
Het |
Mmadhc |
T |
C |
2: 50,170,236 (GRCm39) |
K292R |
probably benign |
Het |
Mmp24 |
A |
G |
2: 155,655,908 (GRCm39) |
I449V |
possibly damaging |
Het |
Mug2 |
T |
A |
6: 122,059,711 (GRCm39) |
L1363Q |
probably damaging |
Het |
Myh4 |
T |
C |
11: 67,142,578 (GRCm39) |
I913T |
probably damaging |
Het |
Myo16 |
T |
A |
8: 10,485,869 (GRCm39) |
N649K |
probably benign |
Het |
Myo7b |
A |
G |
18: 32,147,282 (GRCm39) |
I87T |
probably benign |
Het |
Ndst4 |
A |
G |
3: 125,232,007 (GRCm39) |
D192G |
probably damaging |
Het |
Nup155 |
A |
G |
15: 8,183,157 (GRCm39) |
D1239G |
possibly damaging |
Het |
Or5b21 |
T |
C |
19: 12,840,033 (GRCm39) |
V298A |
probably damaging |
Het |
Or7e173 |
G |
C |
9: 19,939,029 (GRCm39) |
N68K |
possibly damaging |
Het |
Phf10 |
T |
A |
17: 15,165,377 (GRCm39) |
N493I |
probably benign |
Het |
Pramel32 |
A |
T |
4: 88,547,129 (GRCm39) |
|
probably null |
Het |
Prr12 |
T |
C |
7: 44,695,338 (GRCm39) |
E1376G |
unknown |
Het |
Rasa3 |
T |
C |
8: 13,664,587 (GRCm39) |
H75R |
probably benign |
Het |
Rin3 |
G |
A |
12: 102,335,939 (GRCm39) |
V537M |
probably damaging |
Het |
Samd4 |
C |
T |
14: 47,333,566 (GRCm39) |
T272I |
probably damaging |
Het |
Septin5 |
C |
T |
16: 18,442,142 (GRCm39) |
G257D |
probably damaging |
Het |
Serpina6 |
T |
C |
12: 103,620,326 (GRCm39) |
K141R |
probably benign |
Het |
Siglecf |
T |
A |
7: 43,001,700 (GRCm39) |
I170N |
possibly damaging |
Het |
Spopl |
C |
T |
2: 23,407,957 (GRCm39) |
V241M |
probably damaging |
Het |
Stk40 |
G |
A |
4: 126,023,544 (GRCm39) |
|
probably null |
Het |
Syne1 |
A |
G |
10: 4,981,768 (GRCm39) |
S8700P |
probably benign |
Het |
Tbc1d4 |
C |
T |
14: 101,845,772 (GRCm39) |
G42E |
probably damaging |
Het |
Tfap2c |
C |
T |
2: 172,399,102 (GRCm39) |
Q425* |
probably null |
Het |
Tmem255b |
T |
C |
8: 13,505,998 (GRCm39) |
S202P |
probably damaging |
Het |
Traf6 |
T |
C |
2: 101,514,891 (GRCm39) |
S16P |
probably benign |
Het |
Ttc12 |
A |
G |
9: 49,383,705 (GRCm39) |
I66T |
probably damaging |
Het |
Ttc21a |
G |
A |
9: 119,787,885 (GRCm39) |
D818N |
possibly damaging |
Het |
Zfp81 |
A |
T |
17: 33,553,677 (GRCm39) |
I379N |
possibly damaging |
Het |
Zgrf1 |
C |
A |
3: 127,379,749 (GRCm39) |
S211* |
probably null |
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 |
R4573:Mthfd1
|
UTSW |
12 |
76,340,912 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5022:Mthfd1
|
UTSW |
12 |
76,348,102 (GRCm39) |
missense |
probably damaging |
1.00 |
R5022:Mthfd1
|
UTSW |
12 |
76,341,148 (GRCm39) |
missense |
probably damaging |
1.00 |
R5037:Mthfd1
|
UTSW |
12 |
76,340,914 (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'- TGGATGGTCATCAGTCATTCATAG -3'
(R):5'- ACTCTCTGACAGCCTGAGTG -3'
Sequencing Primer
(F):5'- TGGTCTGCAGTAACTAAACTGG -3'
(R):5'- CTGACAGCCTGAGTGATACATTTCAG -3'
|
Posted On |
2015-07-21 |