Incidental Mutation 'R6568:Bhmt1b'
ID |
526177 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bhmt1b
|
Ensembl Gene |
ENSMUSG00000069324 |
Gene Name |
betaine--homocysteine S-methyltransferase 1B |
Synonyms |
Gm5096 |
MMRRC Submission |
044692-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.149)
|
Stock # |
R6568 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
87774410-87776275 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 87775566 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 363
(Y363F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135956
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091776]
|
AlphaFold |
O35490 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000091776
AA Change: Y363F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000135956 Gene: ENSMUSG00000069324 AA Change: Y363F
Domain | Start | End | E-Value | Type |
Pfam:S-methyl_trans
|
23 |
314 |
5e-50 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310009B15Rik |
T |
C |
1: 138,779,872 (GRCm39) |
K127E |
possibly damaging |
Het |
Ash1l |
G |
A |
3: 88,959,344 (GRCm39) |
M2240I |
probably benign |
Het |
Ccr5 |
G |
A |
9: 123,925,236 (GRCm39) |
A280T |
probably damaging |
Het |
Ceacam5 |
C |
T |
7: 17,479,416 (GRCm39) |
L178F |
probably damaging |
Het |
Col2a1 |
T |
C |
15: 97,875,157 (GRCm39) |
N1259S |
unknown |
Het |
Doc2b |
A |
C |
11: 75,667,820 (GRCm39) |
|
probably null |
Het |
Fryl |
T |
C |
5: 73,216,859 (GRCm39) |
N2144D |
probably damaging |
Het |
Hdac1-ps |
A |
G |
17: 78,800,017 (GRCm39) |
Y336C |
probably damaging |
Het |
Ighv1-34 |
A |
T |
12: 114,815,231 (GRCm39) |
W5R |
probably benign |
Het |
Kdr |
A |
G |
5: 76,122,434 (GRCm39) |
V497A |
probably benign |
Het |
Miip |
T |
A |
4: 147,950,372 (GRCm39) |
M75L |
probably benign |
Het |
Mplkip |
T |
C |
13: 17,870,262 (GRCm39) |
S65P |
probably damaging |
Het |
Ms4a13 |
A |
G |
19: 11,168,923 (GRCm39) |
L34P |
probably damaging |
Het |
Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
Nek1 |
T |
C |
8: 61,559,855 (GRCm39) |
S896P |
probably benign |
Het |
Or5ac17 |
A |
T |
16: 59,036,641 (GRCm39) |
C112S |
probably benign |
Het |
Polr3b |
T |
A |
10: 84,470,767 (GRCm39) |
M136K |
probably damaging |
Het |
Rgsl1 |
A |
C |
1: 153,697,292 (GRCm39) |
W508G |
possibly damaging |
Het |
Ros1 |
A |
T |
10: 52,038,908 (GRCm39) |
M354K |
probably damaging |
Het |
Slc34a2 |
T |
C |
5: 53,226,476 (GRCm39) |
L533P |
probably damaging |
Het |
Taf2 |
G |
A |
15: 54,928,026 (GRCm39) |
L126F |
probably damaging |
Het |
Tlr12 |
T |
C |
4: 128,511,785 (GRCm39) |
D155G |
probably benign |
Het |
Trpm2 |
C |
T |
10: 77,773,660 (GRCm39) |
R585Q |
probably benign |
Het |
Zfp942 |
T |
G |
17: 22,148,043 (GRCm39) |
K195N |
probably benign |
Het |
|
Other mutations in Bhmt1b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02396:Bhmt1b
|
APN |
18 |
87,774,780 (GRCm39) |
missense |
possibly damaging |
0.58 |
IGL02510:Bhmt1b
|
APN |
18 |
87,775,653 (GRCm39) |
missense |
probably benign |
0.17 |
R1222:Bhmt1b
|
UTSW |
18 |
87,775,458 (GRCm39) |
missense |
probably damaging |
1.00 |
R1418:Bhmt1b
|
UTSW |
18 |
87,775,458 (GRCm39) |
missense |
probably damaging |
1.00 |
R1465:Bhmt1b
|
UTSW |
18 |
87,775,382 (GRCm39) |
missense |
probably damaging |
1.00 |
R1465:Bhmt1b
|
UTSW |
18 |
87,775,382 (GRCm39) |
missense |
probably damaging |
1.00 |
R1883:Bhmt1b
|
UTSW |
18 |
87,774,669 (GRCm39) |
missense |
probably damaging |
1.00 |
R4631:Bhmt1b
|
UTSW |
18 |
87,774,525 (GRCm39) |
missense |
probably damaging |
0.98 |
R4799:Bhmt1b
|
UTSW |
18 |
87,774,573 (GRCm39) |
missense |
probably damaging |
1.00 |
R5569:Bhmt1b
|
UTSW |
18 |
87,775,392 (GRCm39) |
missense |
probably damaging |
1.00 |
R6011:Bhmt1b
|
UTSW |
18 |
87,774,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R6156:Bhmt1b
|
UTSW |
18 |
87,775,231 (GRCm39) |
nonsense |
probably null |
|
R6160:Bhmt1b
|
UTSW |
18 |
87,775,245 (GRCm39) |
missense |
probably damaging |
1.00 |
R6209:Bhmt1b
|
UTSW |
18 |
87,775,341 (GRCm39) |
missense |
probably damaging |
1.00 |
R6958:Bhmt1b
|
UTSW |
18 |
87,775,046 (GRCm39) |
missense |
probably benign |
|
R7226:Bhmt1b
|
UTSW |
18 |
87,775,590 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8403:Bhmt1b
|
UTSW |
18 |
87,775,575 (GRCm39) |
missense |
probably damaging |
0.99 |
R8416:Bhmt1b
|
UTSW |
18 |
87,774,687 (GRCm39) |
missense |
probably damaging |
0.99 |
R9353:Bhmt1b
|
UTSW |
18 |
87,774,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TACCACATCAGGGCGATTGC -3'
(R):5'- GTAGGCTGGTATTAACACAAACAC -3'
Sequencing Primer
(F):5'- ATTGCAGAGGAGTTGGCCC -3'
(R):5'- TTCCGGGCACACATTGAG -3'
|
Posted On |
2018-06-22 |