Incidental Mutation 'PIT4520001:Mtr'
| ID |
555195 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtr
|
| Ensembl Gene |
ENSMUSG00000021311 |
| Gene Name |
5-methyltetrahydrofolate-homocysteine methyltransferase |
| Synonyms |
methionine synthase, D830038K18Rik, MS |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
PIT4520001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
12197598-12272999 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 12212871 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 915
(R915*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097442
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099856]
|
| AlphaFold |
A6H5Y3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000099856
AA Change: R915*
|
| SMART Domains |
Protein: ENSMUSP00000097442
Gene: ENSMUSG00000021311
AA Change: R915*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:S-methyl_trans
|
18 |
326 |
1.5e-93 |
PFAM |
|
Pfam:Pterin_bind
|
363 |
601 |
4.6e-63 |
PFAM |
|
B12-binding_2
|
657 |
743 |
6.42e-41 |
SMART |
|
Pfam:B12-binding
|
761 |
861 |
3.3e-20 |
PFAM |
|
Pfam:Met_synt_B12
|
953 |
1234 |
2.5e-114 |
PFAM |
|
| Coding Region Coverage |
- 1x: 93.5%
- 3x: 91.1%
- 10x: 86.1%
- 20x: 75.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit embryonic lethality prior to E9.5. Heterozygous appear mostly similar to conrtols, except that they exhibit elevated plasma methionine and homocysteine levels. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(6) : Targeted, knock-out(1) Gene trapped(5) |
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy1 |
A |
G |
11: 7,117,133 (GRCm39) |
N1000S |
probably damaging |
Het |
| Adgrb1 |
A |
G |
15: 74,413,508 (GRCm39) |
D564G |
probably damaging |
Het |
| Ankmy2 |
A |
G |
12: 36,207,390 (GRCm39) |
E12G |
probably benign |
Het |
| Arid1a |
C |
T |
4: 133,409,227 (GRCm39) |
S1375N |
unknown |
Het |
| Atp1a2 |
G |
A |
1: 172,106,941 (GRCm39) |
A793V |
probably benign |
Het |
| Atp8b1 |
T |
C |
18: 64,701,251 (GRCm39) |
Y369C |
probably benign |
Het |
| Catsperg2 |
A |
G |
7: 29,409,586 (GRCm39) |
Y536H |
possibly damaging |
Het |
| Ccdc178 |
A |
G |
18: 22,200,470 (GRCm39) |
Y445H |
probably damaging |
Het |
| Cep170 |
G |
T |
1: 176,607,765 (GRCm39) |
N230K |
unknown |
Het |
| Cftr |
A |
G |
6: 18,277,842 (GRCm39) |
I977V |
probably benign |
Het |
| Chek2 |
A |
G |
5: 111,011,195 (GRCm39) |
Y331C |
probably damaging |
Het |
| Chst13 |
A |
T |
6: 90,286,167 (GRCm39) |
I265K |
probably benign |
Het |
| Coil |
T |
C |
11: 88,872,437 (GRCm39) |
M266T |
probably benign |
Het |
| Col16a1 |
T |
A |
4: 129,945,456 (GRCm39) |
C28S |
unknown |
Het |
| Col3a1 |
T |
C |
1: 45,374,943 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
C |
T |
8: 15,956,023 (GRCm39) |
V3395M |
probably benign |
Het |
| Cyp51 |
A |
G |
5: 4,151,200 (GRCm39) |
V143A |
probably damaging |
Het |
| Eif2ak1 |
C |
T |
5: 143,836,027 (GRCm39) |
Q573* |
probably null |
Het |
| Eif2ak4 |
T |
A |
2: 118,292,808 (GRCm39) |
I1344N |
probably damaging |
Het |
| Fhip1a |
G |
A |
3: 85,579,779 (GRCm39) |
Q809* |
probably null |
Het |
| Gen1 |
A |
G |
12: 11,291,509 (GRCm39) |
V825A |
probably benign |
Het |
| Gm28042 |
A |
T |
2: 119,870,148 (GRCm39) |
K696* |
probably null |
Het |
| Gm4952 |
A |
G |
19: 12,602,048 (GRCm39) |
Y152C |
probably benign |
Het |
| Hdac3 |
G |
A |
18: 38,074,817 (GRCm39) |
T308I |
probably damaging |
Het |
| Hpx |
T |
C |
7: 105,241,341 (GRCm39) |
T357A |
probably benign |
Het |
| Hscb |
A |
T |
5: 110,983,851 (GRCm39) |
Y139N |
probably damaging |
Het |
| Kcnk9 |
T |
A |
15: 72,384,332 (GRCm39) |
H282L |
probably benign |
Het |
| Kdm2b |
G |
A |
5: 123,079,110 (GRCm39) |
T287M |
probably damaging |
Het |
| Kif19a |
C |
T |
11: 114,672,034 (GRCm39) |
T207M |
probably damaging |
Het |
| Kmt2c |
A |
C |
5: 25,520,664 (GRCm39) |
N1815K |
probably benign |
Het |
| Ktn1 |
C |
T |
14: 47,923,774 (GRCm39) |
T511M |
probably damaging |
Het |
| Lrp1 |
C |
G |
10: 127,443,843 (GRCm39) |
Q141H |
possibly damaging |
Het |
| Lrrc43 |
T |
C |
5: 123,630,530 (GRCm39) |
V131A |
possibly damaging |
Het |
| Man1b1 |
T |
A |
2: 25,233,282 (GRCm39) |
H218Q |
probably damaging |
Het |
| Mapk8ip2 |
T |
A |
15: 89,344,900 (GRCm39) |
C766S |
probably damaging |
Het |
| Mfn1 |
A |
G |
3: 32,615,695 (GRCm39) |
N353D |
probably benign |
Het |
| Mtcl1 |
A |
T |
17: 66,692,907 (GRCm39) |
L474Q |
possibly damaging |
Het |
| Myh6 |
C |
A |
14: 55,187,581 (GRCm39) |
V1263L |
probably benign |
Het |
| Nt5m |
C |
A |
11: 59,765,415 (GRCm39) |
L148M |
probably benign |
Het |
| Or4a67 |
A |
G |
2: 88,597,921 (GRCm39) |
V246A |
possibly damaging |
Het |
| Or51t4 |
A |
T |
7: 102,597,921 (GRCm39) |
D83V |
probably damaging |
Het |
| Or8k21 |
T |
C |
2: 86,145,142 (GRCm39) |
I163V |
possibly damaging |
Het |
| Pbrm1 |
T |
A |
14: 30,789,818 (GRCm39) |
F811I |
probably damaging |
Het |
| Pcnt |
A |
G |
10: 76,256,069 (GRCm39) |
S724P |
probably damaging |
Het |
| Pfdn5 |
C |
A |
15: 102,237,158 (GRCm39) |
D98E |
probably benign |
Het |
| Ptprs |
G |
A |
17: 56,721,980 (GRCm39) |
P1715S |
probably damaging |
Het |
| Rtkn2 |
T |
A |
10: 67,823,291 (GRCm39) |
L65Q |
probably damaging |
Het |
| Scn2a |
G |
A |
2: 65,518,763 (GRCm39) |
R379H |
probably damaging |
Het |
| Scn5a |
G |
T |
9: 119,363,636 (GRCm39) |
D501E |
possibly damaging |
Het |
| Spn |
C |
A |
7: 126,735,611 (GRCm39) |
G299W |
probably damaging |
Het |
| St6galnac1 |
T |
C |
11: 116,660,175 (GRCm39) |
N46S |
probably benign |
Het |
| Stx19 |
A |
G |
16: 62,642,871 (GRCm39) |
D229G |
probably benign |
Het |
| Tmc6 |
A |
T |
11: 117,663,556 (GRCm39) |
M552K |
possibly damaging |
Het |
| Tnpo3 |
G |
C |
6: 29,555,221 (GRCm39) |
D787E |
possibly damaging |
Het |
| Tyw5 |
T |
C |
1: 57,427,674 (GRCm39) |
Y310C |
probably damaging |
Het |
| Vmn2r15 |
A |
G |
5: 109,434,871 (GRCm39) |
F611S |
probably damaging |
Het |
| Vmn2r49 |
C |
T |
7: 9,722,988 (GRCm39) |
M95I |
probably benign |
Het |
| Wfdc8 |
A |
G |
2: 164,445,223 (GRCm39) |
S131P |
probably benign |
Het |
| Zfp407 |
A |
T |
18: 84,450,545 (GRCm39) |
M1597K |
probably damaging |
Het |
|
| Other mutations in Mtr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01299:Mtr
|
APN |
13 |
12,240,536 (GRCm39) |
splice site |
probably benign |
|
|
IGL02456:Mtr
|
APN |
13 |
12,213,980 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02573:Mtr
|
APN |
13 |
12,214,013 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02642:Mtr
|
APN |
13 |
12,210,118 (GRCm39) |
splice site |
probably benign |
|
|
IGL03005:Mtr
|
APN |
13 |
12,250,335 (GRCm39) |
splice site |
probably benign |
|
|
IGL03017:Mtr
|
APN |
13 |
12,262,777 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03036:Mtr
|
APN |
13 |
12,262,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
H8930:Mtr
|
UTSW |
13 |
12,250,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4431001:Mtr
|
UTSW |
13 |
12,227,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0011:Mtr
|
UTSW |
13 |
12,252,938 (GRCm39) |
splice site |
probably benign |
|
|
R0047:Mtr
|
UTSW |
13 |
12,237,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0047:Mtr
|
UTSW |
13 |
12,237,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0304:Mtr
|
UTSW |
13 |
12,237,040 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0617:Mtr
|
UTSW |
13 |
12,236,318 (GRCm39) |
missense |
probably benign |
|
|
R0842:Mtr
|
UTSW |
13 |
12,215,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1101:Mtr
|
UTSW |
13 |
12,204,411 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1450:Mtr
|
UTSW |
13 |
12,208,619 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1534:Mtr
|
UTSW |
13 |
12,250,430 (GRCm39) |
splice site |
probably benign |
|
|
R1907:Mtr
|
UTSW |
13 |
12,240,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2111:Mtr
|
UTSW |
13 |
12,259,487 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2354:Mtr
|
UTSW |
13 |
12,203,043 (GRCm39) |
splice site |
probably benign |
|
|
R3849:Mtr
|
UTSW |
13 |
12,262,251 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3899:Mtr
|
UTSW |
13 |
12,231,735 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4012:Mtr
|
UTSW |
13 |
12,204,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4012:Mtr
|
UTSW |
13 |
12,204,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4075:Mtr
|
UTSW |
13 |
12,230,298 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4091:Mtr
|
UTSW |
13 |
12,245,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4655:Mtr
|
UTSW |
13 |
12,242,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4801:Mtr
|
UTSW |
13 |
12,210,137 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4802:Mtr
|
UTSW |
13 |
12,210,137 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4895:Mtr
|
UTSW |
13 |
12,231,752 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5481:Mtr
|
UTSW |
13 |
12,203,041 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5966:Mtr
|
UTSW |
13 |
12,230,453 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6209:Mtr
|
UTSW |
13 |
12,205,278 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6348:Mtr
|
UTSW |
13 |
12,262,840 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6463:Mtr
|
UTSW |
13 |
12,231,752 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6467:Mtr
|
UTSW |
13 |
12,202,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7046:Mtr
|
UTSW |
13 |
12,205,095 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7505:Mtr
|
UTSW |
13 |
12,236,362 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7575:Mtr
|
UTSW |
13 |
12,213,963 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7705:Mtr
|
UTSW |
13 |
12,264,782 (GRCm39) |
missense |
probably benign |
|
|
R7748:Mtr
|
UTSW |
13 |
12,242,725 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8161:Mtr
|
UTSW |
13 |
12,236,372 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8290:Mtr
|
UTSW |
13 |
12,205,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8988:Mtr
|
UTSW |
13 |
12,250,365 (GRCm39) |
missense |
probably benign |
|
|
R9050:Mtr
|
UTSW |
13 |
12,231,748 (GRCm39) |
missense |
probably null |
0.67 |
|
R9420:Mtr
|
UTSW |
13 |
12,268,764 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9655:Mtr
|
UTSW |
13 |
12,203,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0064:Mtr
|
UTSW |
13 |
12,265,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Mtr
|
UTSW |
13 |
12,264,752 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Mtr
|
UTSW |
13 |
12,201,935 (GRCm39) |
missense |
probably benign |
0.32 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTTCTCACTGCAGGCTCC -3'
(R):5'- CAATGTGGAGCTAGTAAACACATGTC -3'
Sequencing Primer
(F):5'- AGGCTCCTTTGTAGCCAAG -3'
(R):5'- CTCCTCTTCTAGTGGCAGTGTGAAG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation