Incidental Mutation 'R4245:Mthfd1'
ID |
320392 |
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 |
041061-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4245 (G1)
|
Quality Score |
220 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
76302072-76366577 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 76348047 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 564
(S564P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021443
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021443]
[ENSMUST00000220046]
|
AlphaFold |
Q922D8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021443
AA Change: S564P
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000021443 Gene: ENSMUSG00000021048 AA Change: S564P
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 |
possibly damaging
Transcript: ENSMUST00000220046
AA Change: S384P
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
Meta Mutation Damage Score |
0.8267 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
98% (47/48) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930449A18Rik |
T |
A |
3: 59,733,203 (GRCm39) |
|
noncoding transcript |
Het |
Acacb |
A |
T |
5: 114,368,845 (GRCm39) |
T1688S |
probably damaging |
Het |
Actr1b |
T |
C |
1: 36,740,911 (GRCm39) |
Y171C |
possibly damaging |
Het |
C8a |
A |
G |
4: 104,733,543 (GRCm39) |
V4A |
probably benign |
Het |
Ccdc171 |
A |
G |
4: 83,473,045 (GRCm39) |
D158G |
probably damaging |
Het |
Ccdc184 |
T |
A |
15: 98,066,750 (GRCm39) |
|
probably null |
Het |
Cdc23 |
T |
C |
18: 34,770,100 (GRCm39) |
|
probably benign |
Het |
Dnah5 |
A |
G |
15: 28,219,335 (GRCm39) |
N51S |
probably benign |
Het |
Dock10 |
T |
A |
1: 80,544,472 (GRCm39) |
E905V |
probably benign |
Het |
Eepd1 |
T |
C |
9: 25,505,920 (GRCm39) |
I460T |
probably benign |
Het |
Fen1 |
T |
A |
19: 10,177,731 (GRCm39) |
I238F |
probably damaging |
Het |
Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
Gm5493 |
A |
G |
17: 22,966,199 (GRCm39) |
E28G |
probably benign |
Het |
Jakmip2 |
A |
G |
18: 43,710,501 (GRCm39) |
V234A |
probably benign |
Het |
Map3k6 |
T |
C |
4: 132,979,258 (GRCm39) |
Y1204H |
possibly damaging |
Het |
Mpeg1 |
C |
A |
19: 12,440,272 (GRCm39) |
Q577K |
probably damaging |
Het |
Mtmr11 |
T |
A |
3: 96,075,393 (GRCm39) |
C358S |
probably damaging |
Het |
Muc4 |
T |
C |
16: 32,753,802 (GRCm38) |
I1226T |
probably benign |
Het |
Myo18b |
G |
A |
5: 112,840,261 (GRCm39) |
H2511Y |
possibly damaging |
Het |
Ndufs6 |
A |
T |
13: 73,468,512 (GRCm39) |
D62E |
probably damaging |
Het |
Or5af2 |
T |
C |
11: 58,708,604 (GRCm39) |
Y257H |
probably damaging |
Het |
Or7e178 |
T |
C |
9: 20,225,629 (GRCm39) |
I196V |
possibly damaging |
Het |
Pcdhga1 |
T |
A |
18: 37,796,605 (GRCm39) |
D536E |
probably damaging |
Het |
Phactr3 |
G |
A |
2: 177,924,982 (GRCm39) |
|
probably null |
Het |
Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
Ptk2 |
C |
T |
15: 73,103,825 (GRCm39) |
G749D |
probably benign |
Het |
Rab3il1 |
A |
T |
19: 10,007,518 (GRCm39) |
D222V |
probably damaging |
Het |
Radil |
T |
C |
5: 142,529,546 (GRCm39) |
D50G |
probably damaging |
Het |
Rfx7 |
A |
G |
9: 72,499,051 (GRCm39) |
T72A |
possibly damaging |
Het |
Scn7a |
T |
C |
2: 66,572,345 (GRCm39) |
I209V |
probably benign |
Het |
Sf3a1 |
C |
T |
11: 4,117,774 (GRCm39) |
R179C |
probably damaging |
Het |
Spata31e2 |
T |
C |
1: 26,721,161 (GRCm39) |
N1340D |
probably benign |
Het |
Styxl2 |
T |
C |
1: 165,928,685 (GRCm39) |
E309G |
probably damaging |
Het |
Tg |
T |
C |
15: 66,568,318 (GRCm39) |
V1335A |
possibly damaging |
Het |
Thnsl1 |
A |
G |
2: 21,217,059 (GRCm39) |
E271G |
probably benign |
Het |
Vill |
T |
A |
9: 118,900,359 (GRCm39) |
|
probably benign |
Het |
Vmn2r79 |
A |
G |
7: 86,651,624 (GRCm39) |
D341G |
possibly damaging |
Het |
Wdr59 |
T |
C |
8: 112,216,996 (GRCm39) |
N272D |
possibly damaging |
Het |
Zar1 |
T |
C |
5: 72,737,736 (GRCm39) |
E121G |
possibly damaging |
Het |
Zfp985 |
A |
G |
4: 147,667,396 (GRCm39) |
K88R |
probably damaging |
Het |
Zscan29 |
C |
T |
2: 120,995,275 (GRCm39) |
|
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 |
|
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 |
76,348,102 (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'- AATGATAGCTCACTGGCCATGC -3'
(R):5'- AATCACTGAAAGACCCCGGG -3'
Sequencing Primer
(F):5'- CCTCCATGAGCTGGGATTATAAGC -3'
(R):5'- CTGAAAGACCCCGGGATGCTAG -3'
|
Posted On |
2015-06-12 |