Incidental Mutation 'R2280:Mthfd1'
ID |
243064 |
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 |
040279-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2280 (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 C
at 76327266 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 118
(I118T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021443
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021443]
[ENSMUST00000220046]
|
AlphaFold |
Q922D8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021443
AA Change: I118T
PolyPhen 2
Score 0.371 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000021443 Gene: ENSMUSG00000021048 AA Change: I118T
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: ENSMUST00000218456
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220046
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alms1 |
A |
G |
6: 85,654,955 (GRCm39) |
N2698S |
probably damaging |
Het |
Ankrd37 |
T |
C |
8: 46,452,413 (GRCm39) |
T19A |
probably benign |
Het |
Anks1b |
A |
C |
10: 90,802,164 (GRCm39) |
K353N |
probably damaging |
Het |
Ano3 |
T |
A |
2: 110,513,104 (GRCm39) |
E630D |
probably benign |
Het |
Ap3b1 |
A |
G |
13: 94,664,724 (GRCm39) |
M888V |
unknown |
Het |
Apoh |
T |
A |
11: 108,300,006 (GRCm39) |
Y218* |
probably null |
Het |
Arhgef19 |
G |
A |
4: 140,973,827 (GRCm39) |
G105S |
probably benign |
Het |
Brd7 |
A |
G |
8: 89,069,385 (GRCm39) |
S437P |
probably benign |
Het |
Cacna2d4 |
A |
T |
6: 119,327,002 (GRCm39) |
Q1089L |
possibly damaging |
Het |
Ccdc168 |
T |
A |
1: 44,095,620 (GRCm39) |
H1826L |
possibly damaging |
Het |
Ccser1 |
A |
T |
6: 61,547,799 (GRCm39) |
M49L |
probably damaging |
Het |
Cep170 |
A |
T |
1: 176,602,071 (GRCm39) |
V345E |
probably benign |
Het |
Chaf1b |
T |
G |
16: 93,688,459 (GRCm39) |
Y185D |
probably damaging |
Het |
Clasp1 |
C |
T |
1: 118,492,913 (GRCm39) |
P1153S |
probably benign |
Het |
Clvs2 |
A |
T |
10: 33,404,496 (GRCm39) |
I240N |
probably damaging |
Het |
Cox8c |
A |
T |
12: 102,865,713 (GRCm39) |
H30L |
possibly damaging |
Het |
Crtac1 |
G |
A |
19: 42,272,006 (GRCm39) |
L646F |
unknown |
Het |
Cyp46a1 |
T |
C |
12: 108,321,730 (GRCm39) |
S319P |
probably damaging |
Het |
Dcdc5 |
G |
A |
2: 106,202,867 (GRCm39) |
|
noncoding transcript |
Het |
Ddx4 |
T |
C |
13: 112,757,190 (GRCm39) |
I377V |
probably benign |
Het |
Dis3l |
T |
A |
9: 64,225,076 (GRCm39) |
N407I |
possibly damaging |
Het |
Dysf |
A |
C |
6: 84,041,476 (GRCm39) |
T161P |
probably damaging |
Het |
Ecsit |
C |
T |
9: 21,987,836 (GRCm39) |
V68I |
possibly damaging |
Het |
Ei24 |
A |
G |
9: 36,693,635 (GRCm39) |
|
probably null |
Het |
Fbxl19 |
A |
T |
7: 127,347,540 (GRCm39) |
D32V |
possibly damaging |
Het |
Fgd5 |
G |
A |
6: 91,965,926 (GRCm39) |
V562M |
possibly damaging |
Het |
Flnc |
G |
A |
6: 29,438,665 (GRCm39) |
W186* |
probably null |
Het |
Frem2 |
A |
G |
3: 53,479,844 (GRCm39) |
C1950R |
probably damaging |
Het |
Fryl |
T |
C |
5: 73,198,707 (GRCm39) |
D2640G |
possibly damaging |
Het |
Ganab |
T |
C |
19: 8,886,832 (GRCm39) |
V306A |
probably damaging |
Het |
Gbx2 |
A |
T |
1: 89,858,359 (GRCm39) |
V40D |
probably damaging |
Het |
Gcc2 |
C |
A |
10: 58,105,502 (GRCm39) |
T210K |
probably benign |
Het |
Gcn1 |
T |
A |
5: 115,750,789 (GRCm39) |
M1991K |
probably damaging |
Het |
Gpr18 |
T |
A |
14: 122,150,017 (GRCm39) |
T3S |
probably benign |
Het |
Herc2 |
A |
C |
7: 55,787,019 (GRCm39) |
K1621N |
possibly damaging |
Het |
Hspg2 |
A |
G |
4: 137,249,354 (GRCm39) |
E1300G |
probably damaging |
Het |
Krtap19-5 |
C |
T |
16: 88,693,231 (GRCm39) |
C27Y |
unknown |
Het |
Lrrc3b |
A |
T |
14: 15,358,076 (GRCm38) |
L177M |
probably damaging |
Het |
Ncoa4-ps |
A |
G |
12: 119,226,573 (GRCm39) |
|
noncoding transcript |
Het |
Nphp4 |
A |
G |
4: 152,641,500 (GRCm39) |
K1094E |
possibly damaging |
Het |
Npy1r |
C |
T |
8: 67,156,711 (GRCm39) |
L44F |
possibly damaging |
Het |
Or10aa1 |
C |
A |
1: 173,870,087 (GRCm39) |
S190R |
probably benign |
Het |
Pcx |
C |
A |
19: 4,654,571 (GRCm39) |
R328S |
probably damaging |
Het |
Pde6a |
T |
C |
18: 61,395,505 (GRCm39) |
Y583H |
probably damaging |
Het |
Pip5k1b |
T |
A |
19: 24,356,311 (GRCm39) |
Y209F |
probably damaging |
Het |
Plch2 |
A |
T |
4: 155,068,766 (GRCm39) |
S1182T |
probably damaging |
Het |
Pum1 |
A |
T |
4: 130,493,322 (GRCm39) |
I696F |
probably damaging |
Het |
Pxdn |
T |
C |
12: 30,034,905 (GRCm39) |
V254A |
probably damaging |
Het |
Rcsd1 |
C |
T |
1: 165,486,998 (GRCm39) |
A72T |
probably benign |
Het |
Rsph4a |
A |
T |
10: 33,787,595 (GRCm39) |
I584L |
probably benign |
Het |
Scamp5 |
A |
G |
9: 57,352,722 (GRCm39) |
V149A |
probably benign |
Het |
Sike1 |
A |
G |
3: 102,904,694 (GRCm39) |
H134R |
possibly damaging |
Het |
Slc12a9 |
A |
G |
5: 137,330,474 (GRCm39) |
L77P |
probably damaging |
Het |
Spmap2l |
T |
C |
5: 77,207,214 (GRCm39) |
I324T |
probably damaging |
Het |
Taar7f |
G |
A |
10: 23,925,417 (GRCm39) |
A4T |
probably benign |
Het |
Tmem216 |
T |
A |
19: 10,529,237 (GRCm39) |
T104S |
probably damaging |
Het |
Tpsg1 |
C |
T |
17: 25,593,016 (GRCm39) |
R94C |
probably damaging |
Het |
Utp20 |
A |
T |
10: 88,661,365 (GRCm39) |
|
probably null |
Het |
Wdr35 |
A |
G |
12: 9,028,628 (GRCm39) |
Q82R |
probably benign |
Het |
Zfp12 |
A |
G |
5: 143,231,248 (GRCm39) |
Y525C |
probably damaging |
Het |
Zfp532 |
T |
C |
18: 65,757,783 (GRCm39) |
V572A |
probably damaging |
Het |
Zfyve26 |
T |
A |
12: 79,321,814 (GRCm39) |
Q935L |
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 |
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 |
76,348,102 (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'- GGGGCTGAGATACACTTTGCAG -3'
(R):5'- TTAGATCACCTCTGGCGAGC -3'
Sequencing Primer
(F):5'- AATATTTCTTTACAGCCTTTCCTTCC -3'
(R):5'- GCTTCCCAGCACTGACG -3'
|
Posted On |
2014-10-16 |