Incidental Mutation 'IGL00509:Mat2b'
| ID |
4619 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mat2b
|
| Ensembl Gene |
ENSMUSG00000042032 |
| Gene Name |
methionine adenosyltransferase 2 non-catalytic beta subunit methionine |
| Synonyms |
2410018D16Rik, 1110064C04Rik, MATIIbeta |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.405)
|
| Stock # |
IGL00509
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
40570141-40586030 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 40575554 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 161
(K161E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048222
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040167]
[ENSMUST00000101347]
[ENSMUST00000141830]
|
| AlphaFold |
Q99LB6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040167
AA Change: K161E
PolyPhen 2
Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000048222
Gene: ENSMUSG00000042032
AA Change: K161E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RmlD_sub_bind
|
29 |
324 |
9.1e-90 |
PFAM |
|
Pfam:Epimerase
|
31 |
244 |
5.7e-25 |
PFAM |
|
Pfam:GDP_Man_Dehyd
|
32 |
317 |
2.3e-11 |
PFAM |
|
Pfam:Polysacc_synt_2
|
59 |
209 |
3.4e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101347
AA Change: K150E
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000098901
Gene: ENSMUSG00000042032
AA Change: K150E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
12 |
N/A |
INTRINSIC |
|
Pfam:RmlD_sub_bind
|
18 |
313 |
4.6e-86 |
PFAM |
|
Pfam:NAD_binding_10
|
20 |
226 |
8.7e-12 |
PFAM |
|
Pfam:Epimerase
|
20 |
236 |
1.1e-26 |
PFAM |
|
Pfam:Polysacc_synt_2
|
49 |
222 |
4.1e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000109307
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135617
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137797
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141830
|
| SMART Domains |
Protein: ENSMUSP00000123878
Gene: ENSMUSG00000042032
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RmlD_sub_bind
|
29 |
91 |
4e-9 |
PFAM |
|
Pfam:Epimerase
|
31 |
96 |
4.6e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156867
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the methionine adenosyltransferase (MAT) family. MAT catalyzes the biosynthesis of S-adenosylmethionine from methionine and ATP. This protein is the regulatory beta subunit of MAT. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
T |
C |
5: 99,391,102 (GRCm39) |
|
probably null |
Het |
| Abr |
A |
G |
11: 76,313,915 (GRCm39) |
L514P |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,987,315 (GRCm39) |
D2866E |
possibly damaging |
Het |
| Bfsp1 |
T |
A |
2: 143,673,812 (GRCm39) |
T293S |
probably damaging |
Het |
| Ccr1 |
C |
T |
9: 123,764,090 (GRCm39) |
V147I |
probably benign |
Het |
| Cd84 |
T |
C |
1: 171,679,704 (GRCm39) |
|
probably null |
Het |
| Cep192 |
T |
C |
18: 67,991,939 (GRCm39) |
V1939A |
possibly damaging |
Het |
| Chrnb4 |
A |
T |
9: 54,943,878 (GRCm39) |
L80Q |
probably damaging |
Het |
| Ckmt2 |
A |
T |
13: 92,011,382 (GRCm39) |
L76H |
probably damaging |
Het |
| Cntnap2 |
C |
T |
6: 45,992,197 (GRCm39) |
P375S |
possibly damaging |
Het |
| Cped1 |
A |
T |
6: 22,215,522 (GRCm39) |
L685F |
probably damaging |
Het |
| Dab2ip |
T |
C |
2: 35,610,025 (GRCm39) |
S682P |
probably damaging |
Het |
| Dclk1 |
A |
T |
3: 55,154,707 (GRCm39) |
T46S |
probably damaging |
Het |
| Eif2d |
T |
A |
1: 131,094,089 (GRCm39) |
C427S |
probably benign |
Het |
| Fat4 |
T |
A |
3: 38,943,188 (GRCm39) |
Y694N |
probably damaging |
Het |
| Gm15217 |
T |
C |
14: 46,620,768 (GRCm39) |
|
probably benign |
Het |
| Gpr35 |
T |
C |
1: 92,910,594 (GRCm39) |
I102T |
probably damaging |
Het |
| Grk4 |
T |
A |
5: 34,873,634 (GRCm39) |
N233K |
probably damaging |
Het |
| Hdac3 |
T |
C |
18: 38,087,938 (GRCm39) |
D10G |
possibly damaging |
Het |
| Hexb |
G |
A |
13: 97,318,437 (GRCm39) |
T308M |
probably damaging |
Het |
| Inpp5j |
C |
A |
11: 3,451,595 (GRCm39) |
D436Y |
possibly damaging |
Het |
| Kif18a |
A |
G |
2: 109,148,333 (GRCm39) |
E609G |
possibly damaging |
Het |
| Kif24 |
T |
C |
4: 41,413,826 (GRCm39) |
|
probably null |
Het |
| Lrp4 |
G |
A |
2: 91,316,519 (GRCm39) |
|
probably benign |
Het |
| Nek2 |
T |
G |
1: 191,559,490 (GRCm39) |
|
probably benign |
Het |
| Numa1 |
A |
G |
7: 101,662,493 (GRCm39) |
T1965A |
possibly damaging |
Het |
| Oca2 |
G |
A |
7: 55,930,594 (GRCm39) |
G137D |
probably damaging |
Het |
| Pdcl2 |
T |
A |
5: 76,472,959 (GRCm39) |
D3V |
probably damaging |
Het |
| Ranbp17 |
T |
C |
11: 33,443,402 (GRCm39) |
N91S |
probably benign |
Het |
| Siglech |
A |
T |
7: 55,418,635 (GRCm39) |
D146V |
possibly damaging |
Het |
| Slc4a3 |
C |
T |
1: 75,531,727 (GRCm39) |
T898M |
probably damaging |
Het |
| Sp3 |
A |
G |
2: 72,768,406 (GRCm39) |
|
probably benign |
Het |
| Tln1 |
C |
T |
4: 43,542,719 (GRCm39) |
V1396I |
probably benign |
Het |
| Ugt2a3 |
T |
A |
5: 87,473,514 (GRCm39) |
M468L |
probably damaging |
Het |
|
| Other mutations in Mat2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00422:Mat2b
|
APN |
11 |
40,578,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02929:Mat2b
|
APN |
11 |
40,575,540 (GRCm39) |
missense |
probably benign |
|
|
R0525:Mat2b
|
UTSW |
11 |
40,573,496 (GRCm39) |
splice site |
probably benign |
|
|
R1733:Mat2b
|
UTSW |
11 |
40,570,904 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5054:Mat2b
|
UTSW |
11 |
40,570,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5729:Mat2b
|
UTSW |
11 |
40,573,373 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6748:Mat2b
|
UTSW |
11 |
40,571,021 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8076:Mat2b
|
UTSW |
11 |
40,576,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
T0975:Mat2b
|
UTSW |
11 |
40,570,918 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1176:Mat2b
|
UTSW |
11 |
40,578,604 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Mat2b
|
UTSW |
11 |
40,573,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation