Incidental Mutation 'R9003:Mthfd1'
| ID |
685105 |
| 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 |
068833-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9003 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
76302072-76366577 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 76350754 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 712
(T712M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021443
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021443]
[ENSMUST00000220046]
[ENSMUST00000220321]
|
| AlphaFold |
Q922D8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021443
AA Change: T712M
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000021443
Gene: ENSMUSG00000021048
AA Change: T712M
| 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 benign
Transcript: ENSMUST00000220046
AA Change: T532M
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220321
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (57/57) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
G |
A |
12: 118,850,013 (GRCm39) |
H917Y |
possibly damaging |
Het |
| Acot4 |
A |
G |
12: 84,089,969 (GRCm39) |
K222R |
possibly damaging |
Het |
| Akap12 |
A |
G |
10: 4,306,744 (GRCm39) |
S1290G |
probably benign |
Het |
| Arid1a |
T |
C |
4: 133,411,799 (GRCm39) |
I1311V |
unknown |
Het |
| Asf1b |
G |
T |
8: 84,682,530 (GRCm39) |
E25* |
probably null |
Het |
| Atp10a |
T |
A |
7: 58,457,203 (GRCm39) |
W901R |
probably damaging |
Het |
| Aurkc |
T |
A |
7: 6,999,547 (GRCm39) |
I18N |
probably damaging |
Het |
| Carmil2 |
A |
G |
8: 106,423,905 (GRCm39) |
T1253A |
probably damaging |
Het |
| Ccdc146 |
T |
C |
5: 21,508,132 (GRCm39) |
T639A |
possibly damaging |
Het |
| Cdca4 |
A |
G |
12: 112,785,659 (GRCm39) |
V23A |
probably benign |
Het |
| Chpt1 |
A |
G |
10: 88,312,943 (GRCm39) |
F290L |
probably damaging |
Het |
| Clca3b |
C |
T |
3: 144,533,072 (GRCm39) |
W653* |
probably null |
Het |
| Coa8 |
A |
G |
12: 111,688,189 (GRCm39) |
*45W |
probably null |
Het |
| Cpb2 |
A |
T |
14: 75,479,868 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
A |
G |
17: 46,836,001 (GRCm39) |
V1215A |
possibly damaging |
Het |
| Cxxc4 |
A |
T |
3: 133,945,431 (GRCm39) |
N4I |
unknown |
Het |
| Eps8l1 |
G |
T |
7: 4,464,016 (GRCm39) |
V47F |
possibly damaging |
Het |
| Exoc6 |
T |
C |
19: 37,587,097 (GRCm39) |
I537T |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,176,591 (GRCm39) |
Y2040C |
probably damaging |
Het |
| Gfm2 |
T |
G |
13: 97,282,889 (GRCm39) |
|
probably benign |
Het |
| Jak2 |
A |
T |
19: 29,254,240 (GRCm39) |
M187L |
probably benign |
Het |
| Kif5b |
A |
G |
18: 6,224,047 (GRCm39) |
V247A |
probably benign |
Het |
| Klhl22 |
T |
C |
16: 17,589,612 (GRCm39) |
V91A |
probably damaging |
Het |
| Ldhd |
T |
C |
8: 112,356,894 (GRCm39) |
S17G |
probably benign |
Het |
| Madd |
C |
A |
2: 90,988,359 (GRCm39) |
E1223* |
probably null |
Het |
| Mecom |
T |
C |
3: 30,034,639 (GRCm39) |
I346V |
probably benign |
Het |
| Nek4 |
C |
T |
14: 30,704,471 (GRCm39) |
T662M |
probably benign |
Het |
| Or10g3b |
T |
A |
14: 52,586,768 (GRCm39) |
H245L |
probably damaging |
Het |
| Or2y1b |
C |
T |
11: 49,209,155 (GRCm39) |
P261S |
possibly damaging |
Het |
| Or4c117 |
T |
A |
2: 88,956,024 (GRCm39) |
Q17L |
possibly damaging |
Het |
| Or4k42 |
A |
G |
2: 111,320,411 (GRCm39) |
F31L |
probably benign |
Het |
| Or5ac19 |
A |
T |
16: 59,089,263 (GRCm39) |
F256I |
probably benign |
Het |
| Or8c18 |
C |
T |
9: 38,203,343 (GRCm39) |
T34I |
probably benign |
Het |
| Phc3 |
G |
A |
3: 31,020,007 (GRCm39) |
T19I |
possibly damaging |
Het |
| Pla2g4e |
T |
A |
2: 120,007,282 (GRCm39) |
Q472L |
probably benign |
Het |
| Plcg2 |
C |
T |
8: 118,342,002 (GRCm39) |
T1121I |
|
Het |
| Plin2 |
T |
C |
4: 86,580,324 (GRCm39) |
T146A |
probably benign |
Het |
| Pum1 |
T |
G |
4: 130,474,393 (GRCm39) |
S488A |
probably benign |
Het |
| Robo1 |
A |
G |
16: 72,539,002 (GRCm39) |
|
probably benign |
Het |
| Rsbn1 |
T |
C |
3: 103,822,188 (GRCm39) |
L102P |
probably damaging |
Het |
| Sbno2 |
A |
T |
10: 79,896,049 (GRCm39) |
V939E |
probably damaging |
Het |
| Scarf1 |
A |
T |
11: 75,406,069 (GRCm39) |
T118S |
possibly damaging |
Het |
| Sdcbp2 |
G |
A |
2: 151,429,113 (GRCm39) |
V171M |
probably benign |
Het |
| Sh3pxd2b |
T |
C |
11: 32,361,571 (GRCm39) |
I261T |
probably damaging |
Het |
| Slc4a9 |
A |
G |
18: 36,673,787 (GRCm39) |
|
probably null |
Het |
| Smpdl3a |
A |
G |
10: 57,683,977 (GRCm39) |
Y245C |
probably damaging |
Het |
| Stk39 |
T |
C |
2: 68,222,462 (GRCm39) |
I201V |
probably damaging |
Het |
| Timm44 |
A |
G |
8: 4,324,204 (GRCm39) |
L25P |
possibly damaging |
Het |
| Tinf2 |
T |
C |
14: 55,917,859 (GRCm39) |
H210R |
probably benign |
Het |
| Tmem168 |
A |
T |
6: 13,591,446 (GRCm39) |
Y457N |
probably benign |
Het |
| Topbp1 |
T |
C |
9: 103,200,727 (GRCm39) |
S587P |
probably benign |
Het |
| Tpp1 |
T |
A |
7: 105,398,156 (GRCm39) |
I336F |
probably benign |
Het |
| Ttc28 |
G |
A |
5: 111,424,896 (GRCm39) |
V1574I |
probably benign |
Het |
| Tut4 |
A |
G |
4: 108,400,029 (GRCm39) |
K1277E |
probably damaging |
Het |
| Vmn2r52 |
A |
T |
7: 9,905,181 (GRCm39) |
D219E |
probably benign |
Het |
| Zbtb40 |
G |
T |
4: 136,745,904 (GRCm39) |
A43E |
probably damaging |
Het |
| Zfp970 |
G |
A |
2: 177,167,010 (GRCm39) |
A195T |
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 |
|
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 |
|
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'- GCGGCCATGATGAGTTTATC -3'
(R):5'- AATGCTGCAAGAGGATCTGTC -3'
Sequencing Primer
(F):5'- ATCTTATATCACAGAGTGGCCCTGG -3'
(R):5'- CTGCAAGAGGATCTGTCCCTGAAG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation