Incidental Mutation 'R6281:Bhmt2'
| ID |
507971 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bhmt2
|
| Ensembl Gene |
ENSMUSG00000042118 |
| Gene Name |
betaine-homocysteine methyltransferase 2 |
| Synonyms |
C81077, D13Ucla2 |
| MMRRC Submission |
044451-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R6281 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
93792605-93810810 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 93799668 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 256
(P256L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015941
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015941]
|
| AlphaFold |
Q91WS4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000015941
AA Change: P256L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000015941
Gene: ENSMUSG00000042118
AA Change: P256L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:S-methyl_trans
|
23 |
305 |
3.9e-44 |
PFAM |
|
| Meta Mutation Damage Score |
0.8968 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Homocysteine is a sulfur-containing amino acid that plays a crucial role in methylation reactions. Transfer of the methyl group from betaine to homocysteine creates methionine, which donates the methyl group to methylate DNA, proteins, lipids, and other intracellular metabolites. The protein encoded by this gene is one of two methyl transferases that can catalyze the transfer of the methyl group from betaine to homocysteine. Anomalies in homocysteine metabolism have been implicated in disorders ranging from vascular disease to neural tube birth defects such as spina bifida. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018B08Rik |
C |
A |
8: 122,258,620 (GRCm39) |
C166F |
probably damaging |
Het |
| Aida |
C |
T |
1: 183,103,145 (GRCm39) |
A237V |
probably damaging |
Het |
| Ankib1 |
T |
C |
5: 3,751,965 (GRCm39) |
T692A |
possibly damaging |
Het |
| As3mt |
T |
C |
19: 46,713,362 (GRCm39) |
V303A |
possibly damaging |
Het |
| Bhlhe40 |
T |
A |
6: 108,641,423 (GRCm39) |
|
probably null |
Het |
| Bpifb1 |
T |
C |
2: 154,048,385 (GRCm39) |
I140T |
probably damaging |
Het |
| Cat |
A |
T |
2: 103,302,114 (GRCm39) |
H194Q |
probably damaging |
Het |
| Cbfa2t3 |
C |
A |
8: 123,360,148 (GRCm39) |
R466L |
probably damaging |
Het |
| Fancm |
T |
C |
12: 65,135,044 (GRCm39) |
V279A |
probably damaging |
Het |
| Gabra2 |
T |
C |
5: 71,192,105 (GRCm39) |
T75A |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gm3512 |
T |
A |
14: 7,159,254 (GRCm38) |
D7V |
possibly damaging |
Het |
| Gpr15 |
A |
G |
16: 58,538,957 (GRCm39) |
F44S |
probably damaging |
Het |
| Ighv1-72 |
C |
A |
12: 115,722,023 (GRCm39) |
C5F |
probably benign |
Het |
| Lilra6 |
A |
G |
7: 3,914,972 (GRCm39) |
L474P |
probably damaging |
Het |
| Mboat2 |
T |
C |
12: 25,007,678 (GRCm39) |
V297A |
probably benign |
Het |
| Muc2 |
C |
G |
7: 141,306,140 (GRCm39) |
C276W |
probably damaging |
Het |
| Ncor1 |
T |
C |
11: 62,264,371 (GRCm39) |
S141G |
possibly damaging |
Het |
| Or4k77 |
T |
C |
2: 111,199,894 (GRCm39) |
*306R |
probably null |
Het |
| Or5p80 |
T |
G |
7: 108,229,609 (GRCm39) |
S137A |
probably benign |
Het |
| Pax5 |
T |
G |
4: 44,691,955 (GRCm39) |
E97A |
probably benign |
Het |
| Pcdhga11 |
A |
T |
18: 37,890,426 (GRCm39) |
D478V |
probably damaging |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Phf21b |
G |
T |
15: 84,738,946 (GRCm39) |
D38E |
probably benign |
Het |
| Ptcd1 |
T |
C |
5: 145,101,881 (GRCm39) |
K146R |
probably benign |
Het |
| Rad23a |
A |
T |
8: 85,564,739 (GRCm39) |
M166K |
probably damaging |
Het |
| Rfc4 |
A |
T |
16: 22,936,816 (GRCm39) |
|
probably null |
Het |
| Slc17a3 |
T |
A |
13: 24,040,782 (GRCm39) |
I336N |
probably benign |
Het |
| Slc2a12 |
T |
A |
10: 22,541,219 (GRCm39) |
M358K |
probably damaging |
Het |
| Stk31 |
T |
G |
6: 49,446,114 (GRCm39) |
M939R |
possibly damaging |
Het |
| Tecrl |
T |
A |
5: 83,442,453 (GRCm39) |
T167S |
probably damaging |
Het |
| Tfap2d |
G |
C |
1: 19,174,702 (GRCm39) |
G52R |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,772,172 (GRCm39) |
V2577M |
probably damaging |
Het |
| Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
| Vezt |
G |
A |
10: 93,809,808 (GRCm39) |
R578C |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vwa3b |
T |
A |
1: 37,163,063 (GRCm39) |
L562Q |
probably damaging |
Het |
| Zfyve27 |
T |
A |
19: 42,171,194 (GRCm39) |
N127K |
probably damaging |
Het |
| Znfx1 |
A |
G |
2: 166,897,805 (GRCm39) |
F373S |
probably damaging |
Het |
| Zswim8 |
G |
A |
14: 20,764,708 (GRCm39) |
V693I |
probably benign |
Het |
|
| Other mutations in Bhmt2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00330:Bhmt2
|
APN |
13 |
93,803,279 (GRCm39) |
splice site |
probably benign |
|
|
IGL01665:Bhmt2
|
APN |
13 |
93,799,661 (GRCm39) |
nonsense |
probably null |
|
|
IGL02059:Bhmt2
|
APN |
13 |
93,803,171 (GRCm39) |
missense |
probably benign |
|
|
IGL02239:Bhmt2
|
APN |
13 |
93,799,687 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02267:Bhmt2
|
APN |
13 |
93,805,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03148:Bhmt2
|
APN |
13 |
93,803,161 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1171:Bhmt2
|
UTSW |
13 |
93,798,837 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1517:Bhmt2
|
UTSW |
13 |
93,798,847 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1886:Bhmt2
|
UTSW |
13 |
93,798,998 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2167:Bhmt2
|
UTSW |
13 |
93,799,012 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4024:Bhmt2
|
UTSW |
13 |
93,799,839 (GRCm39) |
splice site |
probably benign |
|
|
R4823:Bhmt2
|
UTSW |
13 |
93,799,798 (GRCm39) |
missense |
probably benign |
|
|
R5273:Bhmt2
|
UTSW |
13 |
93,803,086 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5333:Bhmt2
|
UTSW |
13 |
93,807,938 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5738:Bhmt2
|
UTSW |
13 |
93,799,798 (GRCm39) |
missense |
probably benign |
|
|
R5955:Bhmt2
|
UTSW |
13 |
93,799,705 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6858:Bhmt2
|
UTSW |
13 |
93,807,948 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6934:Bhmt2
|
UTSW |
13 |
93,798,819 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6985:Bhmt2
|
UTSW |
13 |
93,799,830 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7185:Bhmt2
|
UTSW |
13 |
93,799,779 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7639:Bhmt2
|
UTSW |
13 |
93,799,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8412:Bhmt2
|
UTSW |
13 |
93,798,820 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9224:Bhmt2
|
UTSW |
13 |
93,805,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9479:Bhmt2
|
UTSW |
13 |
93,799,833 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACAGCAGGTTCCTGACTGG -3'
(R):5'- TTAATTGCCTTGCACAGGGG -3'
Sequencing Primer
(F):5'- GACTGGTTGGGTTTTTCCTCCATC -3'
(R):5'- GCGGACATCATTGGGGTCAAC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation