Incidental Mutation 'R4291:Mthfr'
| ID |
323053 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mthfr
|
| Ensembl Gene |
ENSMUSG00000029009 |
| Gene Name |
methylenetetrahydrofolate reductase |
| Synonyms |
|
| MMRRC Submission |
041081-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.735)
|
| Stock # |
R4291 (G1)
|
| Quality Score |
218 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
148123534-148144008 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 148139949 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 623
(N623K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095395
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069604]
[ENSMUST00000097788]
[ENSMUST00000152498]
|
| AlphaFold |
Q9WU20 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069604
AA Change: N664K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000069774
Gene: ENSMUSG00000029009
AA Change: N664K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
73 |
N/A |
INTRINSIC |
|
Pfam:MTHFR
|
88 |
377 |
2.3e-121 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097788
AA Change: N623K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095395
Gene: ENSMUSG00000029009
AA Change: N623K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
32 |
N/A |
INTRINSIC |
|
Pfam:MTHFR
|
47 |
336 |
5.9e-121 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152498
AA Change: N639K
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000117095
Gene: ENSMUSG00000029009
AA Change: N639K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
48 |
N/A |
INTRINSIC |
|
Pfam:MTHFR
|
63 |
352 |
2.4e-121 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000156113
AA Change: N120K
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (62/62) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene have elevated plasma levels of homocysteine. They also display delayed growth and development and a reduced survival rate. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
T |
C |
3: 36,120,337 (GRCm39) |
F27S |
probably benign |
Het |
| AK157302 |
T |
A |
13: 21,679,715 (GRCm39) |
D80E |
probably damaging |
Het |
| Amz2 |
T |
C |
11: 109,324,881 (GRCm39) |
|
probably null |
Het |
| Angel1 |
A |
G |
12: 86,767,057 (GRCm39) |
Y440H |
probably damaging |
Het |
| Ankrd34c |
T |
A |
9: 89,611,817 (GRCm39) |
K175* |
probably null |
Het |
| Arid1b |
C |
A |
17: 5,090,938 (GRCm39) |
S546R |
probably damaging |
Het |
| Atf6b |
T |
A |
17: 34,871,648 (GRCm39) |
M428K |
probably benign |
Het |
| Brpf3 |
G |
A |
17: 29,042,949 (GRCm39) |
V997M |
probably benign |
Het |
| Cckar |
A |
G |
5: 53,863,839 (GRCm39) |
S41P |
probably benign |
Het |
| Cd96 |
T |
A |
16: 45,892,112 (GRCm39) |
Q292L |
probably damaging |
Het |
| Cdh18 |
C |
A |
15: 22,714,637 (GRCm39) |
|
probably benign |
Het |
| Cfb |
T |
G |
17: 35,080,114 (GRCm39) |
D122A |
possibly damaging |
Het |
| Copa |
G |
T |
1: 171,919,964 (GRCm39) |
|
probably benign |
Het |
| Ctnna2 |
T |
A |
6: 76,859,728 (GRCm39) |
K854N |
probably damaging |
Het |
| Cwh43 |
G |
A |
5: 73,569,275 (GRCm39) |
V106M |
probably benign |
Het |
| Dact2 |
C |
T |
17: 14,416,833 (GRCm39) |
E456K |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 30,967,533 (GRCm39) |
S2582P |
probably benign |
Het |
| Eef2 |
A |
G |
10: 81,015,414 (GRCm39) |
T312A |
probably benign |
Het |
| Enpep |
T |
A |
3: 129,063,966 (GRCm39) |
R934* |
probably null |
Het |
| Fam240b |
A |
T |
13: 64,629,627 (GRCm39) |
M63K |
possibly damaging |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Gm6124 |
A |
T |
7: 38,872,195 (GRCm39) |
|
noncoding transcript |
Het |
| Gsn |
G |
A |
2: 35,180,432 (GRCm39) |
V147I |
probably benign |
Het |
| Gucy1a1 |
A |
T |
3: 82,002,066 (GRCm39) |
F671Y |
possibly damaging |
Het |
| Hectd3 |
A |
G |
4: 116,852,889 (GRCm39) |
E97G |
probably damaging |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Krba1 |
C |
T |
6: 48,392,599 (GRCm39) |
P802S |
possibly damaging |
Het |
| Lca5l |
C |
T |
16: 95,979,974 (GRCm39) |
S52N |
probably damaging |
Het |
| Lmf1 |
T |
C |
17: 25,873,455 (GRCm39) |
L320P |
probably damaging |
Het |
| Map3k4 |
G |
T |
17: 12,474,147 (GRCm39) |
Q845K |
probably benign |
Het |
| Mapkapk3 |
T |
C |
9: 107,136,131 (GRCm39) |
|
probably benign |
Het |
| Mccc1 |
A |
G |
3: 36,044,217 (GRCm39) |
V203A |
probably damaging |
Het |
| Mcm9 |
C |
A |
10: 53,423,668 (GRCm39) |
M677I |
probably benign |
Het |
| Mkrn2 |
A |
G |
6: 115,594,395 (GRCm39) |
T369A |
possibly damaging |
Het |
| Myh2 |
T |
C |
11: 67,071,985 (GRCm39) |
V571A |
probably benign |
Het |
| Nom1 |
G |
A |
5: 29,651,370 (GRCm39) |
|
probably null |
Het |
| Nucb1 |
T |
A |
7: 45,144,704 (GRCm39) |
D283V |
probably damaging |
Het |
| Or12e8 |
G |
A |
2: 87,188,419 (GRCm39) |
M210I |
probably benign |
Het |
| Or14c46 |
A |
T |
7: 85,918,968 (GRCm39) |
F10I |
probably damaging |
Het |
| Or2v2 |
T |
A |
11: 49,004,254 (GRCm39) |
I100L |
probably benign |
Het |
| Pcdhb1 |
A |
C |
18: 37,398,470 (GRCm39) |
L140F |
probably damaging |
Het |
| Ptgs2 |
G |
A |
1: 149,976,002 (GRCm39) |
A10T |
probably benign |
Het |
| Rfx3 |
C |
T |
19: 27,777,632 (GRCm39) |
R497Q |
probably damaging |
Het |
| Rps6kb1 |
A |
T |
11: 86,410,702 (GRCm39) |
|
probably benign |
Het |
| Slc22a21 |
T |
C |
11: 53,860,329 (GRCm39) |
D34G |
probably damaging |
Het |
| Spata13 |
T |
A |
14: 60,947,004 (GRCm39) |
M684K |
probably damaging |
Het |
| Tet3 |
T |
C |
6: 83,350,181 (GRCm39) |
T961A |
probably damaging |
Het |
| Ttc27 |
T |
C |
17: 75,163,474 (GRCm39) |
L694P |
probably damaging |
Het |
| Vmn1r238 |
G |
A |
18: 3,123,214 (GRCm39) |
Q67* |
probably null |
Het |
| Vmn2r101 |
A |
T |
17: 19,832,303 (GRCm39) |
R766S |
probably damaging |
Het |
| Vwf |
A |
T |
6: 125,619,285 (GRCm39) |
Y1321F |
probably damaging |
Het |
| Wfdc1 |
C |
A |
8: 120,406,194 (GRCm39) |
P103Q |
probably damaging |
Het |
| Zfp488 |
C |
A |
14: 33,692,851 (GRCm39) |
C104F |
possibly damaging |
Het |
|
| Other mutations in Mthfr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00420:Mthfr
|
APN |
4 |
148,125,727 (GRCm39) |
missense |
probably benign |
|
|
IGL00911:Mthfr
|
APN |
4 |
148,125,759 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0116:Mthfr
|
UTSW |
4 |
148,135,980 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0207:Mthfr
|
UTSW |
4 |
148,136,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0268:Mthfr
|
UTSW |
4 |
148,139,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0344:Mthfr
|
UTSW |
4 |
148,139,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0762:Mthfr
|
UTSW |
4 |
148,139,900 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1433:Mthfr
|
UTSW |
4 |
148,139,900 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1464:Mthfr
|
UTSW |
4 |
148,138,029 (GRCm39) |
splice site |
probably benign |
|
|
R1972:Mthfr
|
UTSW |
4 |
148,136,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3154:Mthfr
|
UTSW |
4 |
148,136,061 (GRCm39) |
missense |
probably benign |
0.12 |
|
R3407:Mthfr
|
UTSW |
4 |
148,139,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3773:Mthfr
|
UTSW |
4 |
148,128,907 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4153:Mthfr
|
UTSW |
4 |
148,135,932 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4487:Mthfr
|
UTSW |
4 |
148,135,884 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4574:Mthfr
|
UTSW |
4 |
148,127,998 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4583:Mthfr
|
UTSW |
4 |
148,136,329 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4847:Mthfr
|
UTSW |
4 |
148,132,596 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5183:Mthfr
|
UTSW |
4 |
148,135,817 (GRCm39) |
splice site |
probably null |
|
|
R5536:Mthfr
|
UTSW |
4 |
148,128,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5664:Mthfr
|
UTSW |
4 |
148,139,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6161:Mthfr
|
UTSW |
4 |
148,126,211 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7285:Mthfr
|
UTSW |
4 |
148,138,056 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7427:Mthfr
|
UTSW |
4 |
148,136,060 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7428:Mthfr
|
UTSW |
4 |
148,136,060 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7474:Mthfr
|
UTSW |
4 |
148,137,059 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7823:Mthfr
|
UTSW |
4 |
148,135,944 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7826:Mthfr
|
UTSW |
4 |
148,139,467 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7975:Mthfr
|
UTSW |
4 |
148,127,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8669:Mthfr
|
UTSW |
4 |
148,135,934 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8698:Mthfr
|
UTSW |
4 |
148,128,947 (GRCm39) |
nonsense |
probably null |
|
|
R8714:Mthfr
|
UTSW |
4 |
148,126,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8790:Mthfr
|
UTSW |
4 |
148,139,991 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8961:Mthfr
|
UTSW |
4 |
148,128,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8981:Mthfr
|
UTSW |
4 |
148,139,451 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9098:Mthfr
|
UTSW |
4 |
148,126,082 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9221:Mthfr
|
UTSW |
4 |
148,132,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9708:Mthfr
|
UTSW |
4 |
148,128,978 (GRCm39) |
nonsense |
probably null |
|
|
R9781:Mthfr
|
UTSW |
4 |
148,132,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCGTATGTTAGCACATGG -3'
(R):5'- TCCAGGTGAGGAAGATACCG -3'
Sequencing Primer
(F):5'- TTACCTGGGTGGCCTGCAG -3'
(R):5'- AGATACCGGGATGCAGGCTC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation