Incidental Mutation 'R6119:Mthfd1'
| ID |
485677 |
| 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 |
044429-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6119 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
76302072-76366577 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 76350447 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 462
(I462F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151500
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021443]
[ENSMUST00000220046]
[ENSMUST00000220321]
|
| AlphaFold |
Q922D8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021443
AA Change: I642F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021443
Gene: ENSMUSG00000021048
AA Change: I642F
| 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: ENSMUST00000218341
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218513
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220046
AA Change: I462F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220321
|
| Meta Mutation Damage Score |
0.9257 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.2%
|
| Validation Efficiency |
100% (53/53) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
C |
T |
7: 27,265,138 (GRCm39) |
R97* |
probably null |
Het |
| 4930544D05Rik |
G |
A |
11: 70,507,317 (GRCm39) |
A121T |
probably damaging |
Het |
| Abtb2 |
A |
T |
2: 103,532,655 (GRCm39) |
E484D |
probably benign |
Het |
| Ankk1 |
A |
T |
9: 49,338,183 (GRCm39) |
W37R |
possibly damaging |
Het |
| Arhgap11a |
C |
A |
2: 113,664,695 (GRCm39) |
M529I |
probably benign |
Het |
| Btd |
G |
A |
14: 31,363,065 (GRCm39) |
|
probably benign |
Het |
| Ddx47 |
T |
C |
6: 135,000,318 (GRCm39) |
I438T |
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,358,647 (GRCm39) |
T3379A |
probably benign |
Het |
| Dusp3 |
A |
G |
11: 101,871,495 (GRCm39) |
|
probably benign |
Het |
| Dync1h1 |
A |
G |
12: 110,594,440 (GRCm39) |
K1289E |
possibly damaging |
Het |
| Egf |
A |
T |
3: 129,530,421 (GRCm39) |
I247N |
probably benign |
Het |
| Erich1 |
A |
G |
8: 14,083,692 (GRCm39) |
L126P |
probably benign |
Het |
| Fat3 |
T |
A |
9: 16,287,864 (GRCm39) |
H553L |
possibly damaging |
Het |
| Gdpgp1 |
T |
C |
7: 79,888,740 (GRCm39) |
L257P |
probably damaging |
Het |
| Gimap8 |
T |
C |
6: 48,635,888 (GRCm39) |
I551T |
possibly damaging |
Het |
| Gnptab |
C |
A |
10: 88,267,257 (GRCm39) |
D449E |
probably damaging |
Het |
| Grb10 |
T |
C |
11: 11,883,551 (GRCm39) |
D513G |
probably damaging |
Het |
| Grin1 |
T |
G |
2: 25,195,170 (GRCm39) |
D283A |
probably damaging |
Het |
| Gtf2i |
A |
T |
5: 134,315,911 (GRCm39) |
|
probably null |
Het |
| Ip6k3 |
A |
G |
17: 27,367,599 (GRCm39) |
V199A |
possibly damaging |
Het |
| Kif17 |
T |
A |
4: 138,015,643 (GRCm39) |
Y405* |
probably null |
Het |
| Lair1 |
T |
C |
7: 4,031,895 (GRCm39) |
M71V |
probably benign |
Het |
| Mamdc2 |
G |
A |
19: 23,330,679 (GRCm39) |
T376M |
probably damaging |
Het |
| Msra |
G |
A |
14: 64,678,183 (GRCm39) |
R38C |
probably damaging |
Het |
| Nbr1 |
A |
G |
11: 101,457,938 (GRCm39) |
|
probably null |
Het |
| Neb |
A |
G |
2: 52,110,943 (GRCm39) |
M181T |
probably benign |
Het |
| Noxo1 |
A |
G |
17: 24,915,545 (GRCm39) |
|
probably benign |
Het |
| Optn |
C |
A |
2: 5,026,134 (GRCm39) |
|
probably null |
Het |
| Or10ag58 |
A |
T |
2: 87,265,733 (GRCm39) |
K301* |
probably null |
Het |
| Or4c103 |
A |
G |
2: 88,513,935 (GRCm39) |
I47T |
probably damaging |
Het |
| Or5k17 |
A |
T |
16: 58,746,895 (GRCm39) |
I13N |
possibly damaging |
Het |
| Or6c215 |
G |
A |
10: 129,637,689 (GRCm39) |
A235V |
probably damaging |
Het |
| Or6c215 |
C |
A |
10: 129,637,690 (GRCm39) |
A235S |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,727,033 (GRCm39) |
|
probably benign |
Het |
| Ppp1r16b |
A |
G |
2: 158,593,047 (GRCm39) |
I209V |
probably benign |
Het |
| Prss12 |
A |
G |
3: 123,283,258 (GRCm39) |
I517V |
possibly damaging |
Het |
| Pwwp3a |
A |
G |
10: 80,064,865 (GRCm39) |
K32E |
probably benign |
Het |
| Ripor2 |
C |
T |
13: 24,798,627 (GRCm39) |
|
probably benign |
Het |
| Rmnd5b |
A |
G |
11: 51,516,536 (GRCm39) |
S274P |
probably benign |
Het |
| Sftpa1 |
T |
A |
14: 40,854,509 (GRCm39) |
I32N |
probably damaging |
Het |
| Slc2a12 |
T |
A |
10: 22,541,246 (GRCm39) |
I367N |
probably damaging |
Het |
| Sorcs1 |
T |
C |
19: 50,276,532 (GRCm39) |
D340G |
probably damaging |
Het |
| Synj1 |
T |
C |
16: 90,735,877 (GRCm39) |
K1359E |
probably benign |
Het |
| Tasor2 |
C |
T |
13: 3,631,891 (GRCm39) |
R870H |
possibly damaging |
Het |
| Tcf12 |
T |
A |
9: 71,775,547 (GRCm39) |
E421V |
probably damaging |
Het |
| Tecta |
A |
T |
9: 42,284,371 (GRCm39) |
F905I |
probably benign |
Het |
| Tmem106a |
T |
A |
11: 101,474,576 (GRCm39) |
C58* |
probably null |
Het |
| Tmem131l |
A |
T |
3: 83,805,689 (GRCm39) |
F1585I |
probably damaging |
Het |
| Tnks2 |
T |
C |
19: 36,856,752 (GRCm39) |
S208P |
possibly damaging |
Het |
| Trim50 |
A |
G |
5: 135,382,274 (GRCm39) |
N42S |
probably benign |
Het |
| Tsc22d2 |
T |
A |
3: 58,367,674 (GRCm39) |
|
probably benign |
Het |
| Ttll3 |
T |
A |
6: 113,371,702 (GRCm39) |
L23H |
probably damaging |
Het |
| Vmn1r10 |
A |
G |
6: 57,091,218 (GRCm39) |
Y270C |
probably benign |
Het |
| Ypel3 |
T |
C |
7: 126,377,537 (GRCm39) |
V74A |
possibly damaging |
Het |
| Zfp677 |
A |
G |
17: 21,618,070 (GRCm39) |
T376A |
possibly 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 |
|
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 |
|
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'- CCTTCTTACTGTAGCTGAGGTG -3'
(R):5'- AGCTTCCGTTACTGCAAGGG -3'
Sequencing Primer
(F):5'- TACTTGGCATGCTAAAGGCC -3'
(R):5'- TCCGTTACTGCAAGGGAGAGG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation