Incidental Mutation 'IGL02365:Bhmt'
| ID |
290700 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bhmt
|
| Ensembl Gene |
ENSMUSG00000074768 |
| Gene Name |
betaine-homocysteine methyltransferase |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02365
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
93753399-93774266 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 93754146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 354
(N354K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096912
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099309]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099309
AA Change: N354K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000096912
Gene: ENSMUSG00000074768
AA Change: N354K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:S-methyl_trans
|
23 |
314 |
5e-50 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124193
|
| Coding Region Coverage |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acyp2 |
A |
T |
11: 30,599,318 (GRCm39) |
V21E |
probably damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,660,428 (GRCm39) |
D331G |
probably damaging |
Het |
| Arfgef1 |
A |
T |
1: 10,270,108 (GRCm39) |
I347N |
probably benign |
Het |
| Bfsp1 |
T |
G |
2: 143,668,656 (GRCm39) |
E647A |
probably damaging |
Het |
| Brinp3 |
A |
T |
1: 146,776,860 (GRCm39) |
T436S |
probably benign |
Het |
| Capza1b |
T |
C |
X: 168,559,526 (GRCm39) |
N272D |
probably benign |
Het |
| Cog7 |
C |
A |
7: 121,576,959 (GRCm39) |
M66I |
possibly damaging |
Het |
| Csf2rb2 |
A |
T |
15: 78,171,260 (GRCm39) |
M333K |
possibly damaging |
Het |
| Cyp2u1 |
A |
G |
3: 131,091,878 (GRCm39) |
V214A |
probably damaging |
Het |
| Dcaf5 |
A |
T |
12: 80,445,547 (GRCm39) |
H177Q |
probably benign |
Het |
| Dchs1 |
T |
C |
7: 105,404,395 (GRCm39) |
T2716A |
probably benign |
Het |
| Dsc1 |
T |
C |
18: 20,241,873 (GRCm39) |
Q156R |
probably damaging |
Het |
| Dspp |
G |
T |
5: 104,323,927 (GRCm39) |
G357W |
probably damaging |
Het |
| Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
| Fto |
T |
G |
8: 92,195,003 (GRCm39) |
S265R |
probably damaging |
Het |
| Gphb5 |
A |
G |
12: 75,462,591 (GRCm39) |
|
probably benign |
Het |
| Iars1 |
T |
C |
13: 49,844,975 (GRCm39) |
V162A |
probably benign |
Het |
| Klk13 |
A |
C |
7: 43,373,290 (GRCm39) |
K107T |
possibly damaging |
Het |
| Kpna7 |
T |
A |
5: 144,922,543 (GRCm39) |
D507V |
possibly damaging |
Het |
| Lamb1 |
A |
T |
12: 31,368,344 (GRCm39) |
E1158V |
probably damaging |
Het |
| Lonp2 |
A |
T |
8: 87,442,993 (GRCm39) |
D818V |
possibly damaging |
Het |
| Med15 |
A |
G |
16: 17,489,470 (GRCm39) |
|
probably benign |
Het |
| Or5p51 |
T |
A |
7: 107,444,119 (GRCm39) |
N274Y |
probably damaging |
Het |
| Or6c69b |
T |
C |
10: 129,627,404 (GRCm39) |
D18G |
possibly damaging |
Het |
| Or8g52 |
A |
T |
9: 39,630,970 (GRCm39) |
Y149F |
possibly damaging |
Het |
| Or8g52 |
G |
A |
9: 39,631,396 (GRCm39) |
S291N |
probably damaging |
Het |
| Plpbp |
A |
G |
8: 27,535,952 (GRCm39) |
I82V |
probably benign |
Het |
| Ptprcap |
A |
G |
19: 4,206,267 (GRCm39) |
I117V |
probably benign |
Het |
| Rhox12 |
T |
A |
X: 37,196,758 (GRCm39) |
D88V |
possibly damaging |
Het |
| Rnpc3 |
A |
G |
3: 113,402,048 (GRCm39) |
S500P |
probably damaging |
Het |
| Sdhd |
A |
T |
9: 50,510,125 (GRCm39) |
Y84N |
possibly damaging |
Het |
| Sema6d |
G |
A |
2: 124,498,788 (GRCm39) |
V233I |
probably benign |
Het |
| Vegfb |
A |
T |
19: 6,962,855 (GRCm39) |
I140N |
probably benign |
Het |
| Vldlr |
A |
G |
19: 27,223,025 (GRCm39) |
Y732C |
probably damaging |
Het |
| Vmn2r17 |
T |
A |
5: 109,601,175 (GRCm39) |
F824L |
probably damaging |
Het |
| Xdh |
A |
T |
17: 74,250,885 (GRCm39) |
N22K |
probably benign |
Het |
| Zc3h11a |
A |
C |
1: 133,565,151 (GRCm39) |
N249K |
probably benign |
Het |
| Zwilch |
T |
A |
9: 64,068,206 (GRCm39) |
D203V |
probably 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 |
|
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 |
|
R2283:Bhmt
|
UTSW |
13 |
93,756,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation