Incidental Mutation 'R2283:Bhmt'
| ID |
243223 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bhmt
|
| Ensembl Gene |
ENSMUSG00000074768 |
| Gene Name |
betaine-homocysteine methyltransferase |
| Synonyms |
|
| MMRRC Submission |
040282-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2283 (G1)
|
| Quality Score |
162 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
93753399-93774266 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 93756809 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 273
(P273L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096912
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099309]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099309
AA Change: P273L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096912
Gene: ENSMUSG00000074768
AA Change: P273L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:S-methyl_trans
|
23 |
314 |
5e-50 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124193
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytosolic enzyme that catalyzes the conversion of betaine and homocysteine to dimethylglycine and methionine, respectively. Defects in this gene could lead to hyperhomocyst(e)inemia, but such a defect has not yet been observed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit slow postnatal weight gain, altered homocysteine, choline, and one-carbon homeostasis, fatty liver, and hepatocellular carcinomas. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
T |
C |
10: 10,253,635 (GRCm39) |
E1235G |
probably damaging |
Het |
| Anapc1 |
A |
T |
2: 128,484,468 (GRCm39) |
H1165Q |
probably benign |
Het |
| Clec18a |
A |
G |
8: 111,802,140 (GRCm39) |
V283A |
probably benign |
Het |
| Dlg5 |
G |
A |
14: 24,208,731 (GRCm39) |
P825L |
probably benign |
Het |
| Fas |
G |
A |
19: 34,284,649 (GRCm39) |
G52D |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,802,164 (GRCm39) |
I1209T |
probably benign |
Het |
| Gpt2 |
T |
A |
8: 86,242,818 (GRCm39) |
D283E |
probably benign |
Het |
| Hrh1 |
C |
T |
6: 114,457,400 (GRCm39) |
T227I |
probably benign |
Het |
| Kif26a |
T |
C |
12: 112,143,787 (GRCm39) |
F1347S |
possibly damaging |
Het |
| Krt1c |
T |
C |
15: 101,722,822 (GRCm39) |
Y392C |
probably damaging |
Het |
| Masp2 |
A |
G |
4: 148,690,525 (GRCm39) |
K261E |
probably benign |
Het |
| Nav2 |
G |
T |
7: 49,141,152 (GRCm39) |
R899L |
probably damaging |
Het |
| Nuggc |
T |
C |
14: 65,876,061 (GRCm39) |
V574A |
possibly damaging |
Het |
| Or2b6 |
G |
A |
13: 21,823,190 (GRCm39) |
R168C |
probably damaging |
Het |
| Pcsk4 |
T |
C |
10: 80,158,584 (GRCm39) |
E556G |
probably damaging |
Het |
| Ppa1 |
G |
A |
10: 61,496,788 (GRCm39) |
W92* |
probably null |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Sp3 |
A |
C |
2: 72,801,521 (GRCm39) |
I164S |
possibly damaging |
Het |
| St8sia3 |
G |
T |
18: 64,404,801 (GRCm39) |
E359D |
probably damaging |
Het |
| Usp17lb |
A |
G |
7: 104,489,859 (GRCm39) |
I355T |
possibly damaging |
Het |
| Zfp608 |
T |
A |
18: 55,121,446 (GRCm39) |
K47I |
probably damaging |
Het |
| Zfp931 |
A |
G |
2: 177,711,714 (GRCm39) |
V11A |
possibly damaging |
Het |
|
| Other mutations in Bhmt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01730:Bhmt
|
APN |
13 |
93,761,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02365:Bhmt
|
APN |
13 |
93,754,146 (GRCm39) |
missense |
probably benign |
|
|
IGL02556:Bhmt
|
APN |
13 |
93,774,008 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0279:Bhmt
|
UTSW |
13 |
93,761,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1853:Bhmt
|
UTSW |
13 |
93,761,843 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2012:Bhmt
|
UTSW |
13 |
93,761,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2065:Bhmt
|
UTSW |
13 |
93,754,120 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3429:Bhmt
|
UTSW |
13 |
93,763,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3430:Bhmt
|
UTSW |
13 |
93,763,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4166:Bhmt
|
UTSW |
13 |
93,762,007 (GRCm39) |
splice site |
probably benign |
|
|
R4729:Bhmt
|
UTSW |
13 |
93,763,871 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5135:Bhmt
|
UTSW |
13 |
93,763,831 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5277:Bhmt
|
UTSW |
13 |
93,761,393 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7233:Bhmt
|
UTSW |
13 |
93,758,025 (GRCm39) |
nonsense |
probably null |
|
|
R7553:Bhmt
|
UTSW |
13 |
93,756,589 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7828:Bhmt
|
UTSW |
13 |
93,754,156 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8499:Bhmt
|
UTSW |
13 |
93,756,600 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9621:Bhmt
|
UTSW |
13 |
93,758,079 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTCCCCAGCTGCCATGT -3'
(R):5'- GGGCATCAAATATCCTGCTCTCT -3'
Sequencing Primer
(F):5'- AGCTGCCATGTTTTTCTGAAGC -3'
(R):5'- TGTATGCATGCACAGTCCAG -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation