Incidental Mutation 'IGL00422:Mat2b'
| ID |
4618 |
| 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 # |
IGL00422
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
40570141-40586030 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 40578565 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 41
(G41C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123878
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040167]
[ENSMUST00000101347]
[ENSMUST00000141830]
|
| AlphaFold |
Q99LB6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040167
AA Change: G41C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048222
Gene: ENSMUSG00000042032
AA Change: G41C
| 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 damaging
Transcript: ENSMUST00000101347
AA Change: G30C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098901
Gene: ENSMUSG00000042032
AA Change: G30C
| 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 damaging
Transcript: ENSMUST00000141830
AA Change: G41C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123878
Gene: ENSMUSG00000042032
AA Change: G41C
| 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 |
|---|
| Ablim1 |
C |
T |
19: 57,056,618 (GRCm39) |
A359T |
probably damaging |
Het |
| Adam34l |
A |
G |
8: 44,079,388 (GRCm39) |
F279L |
probably damaging |
Het |
| Ajuba |
A |
T |
14: 54,809,226 (GRCm39) |
Y400* |
probably null |
Het |
| Cckar |
T |
A |
5: 53,857,171 (GRCm39) |
D342V |
possibly damaging |
Het |
| Cdc123 |
A |
G |
2: 5,803,260 (GRCm39) |
V253A |
probably benign |
Het |
| Cep162 |
T |
C |
9: 87,109,220 (GRCm39) |
D461G |
probably benign |
Het |
| Chd7 |
G |
A |
4: 8,859,106 (GRCm39) |
E2399K |
probably damaging |
Het |
| Cln8 |
G |
A |
8: 14,946,637 (GRCm39) |
C217Y |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,407,236 (GRCm39) |
V2119A |
possibly damaging |
Het |
| Dhx33 |
T |
C |
11: 70,892,446 (GRCm39) |
S108G |
probably benign |
Het |
| Dip2a |
T |
A |
10: 76,149,070 (GRCm39) |
M194L |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 118,031,831 (GRCm39) |
K1779R |
probably damaging |
Het |
| Fads3 |
T |
G |
19: 10,033,045 (GRCm39) |
F328V |
possibly damaging |
Het |
| Flad1 |
A |
G |
3: 89,313,160 (GRCm39) |
|
probably null |
Het |
| Gm7535 |
G |
T |
17: 18,132,150 (GRCm39) |
|
probably benign |
Het |
| Gnpat |
A |
G |
8: 125,611,752 (GRCm39) |
E513G |
probably damaging |
Het |
| H2-M5 |
A |
G |
17: 37,298,732 (GRCm39) |
I238T |
probably damaging |
Het |
| Hoxd12 |
G |
A |
2: 74,505,771 (GRCm39) |
R114Q |
probably damaging |
Het |
| Ide |
T |
C |
19: 37,253,931 (GRCm39) |
I903V |
unknown |
Het |
| Ifi209 |
T |
G |
1: 173,466,529 (GRCm39) |
D120E |
possibly damaging |
Het |
| Map3k10 |
T |
C |
7: 27,367,894 (GRCm39) |
D248G |
probably damaging |
Het |
| Mfsd4a |
T |
C |
1: 131,968,332 (GRCm39) |
I369V |
probably benign |
Het |
| Myom1 |
T |
A |
17: 71,433,093 (GRCm39) |
V1480E |
probably damaging |
Het |
| Myom2 |
A |
T |
8: 15,119,490 (GRCm39) |
D127V |
probably damaging |
Het |
| Olfml2b |
T |
A |
1: 170,496,635 (GRCm39) |
V422E |
probably damaging |
Het |
| Pkn3 |
G |
A |
2: 29,971,116 (GRCm39) |
A228T |
probably damaging |
Het |
| Rad17 |
A |
T |
13: 100,766,033 (GRCm39) |
I365K |
probably benign |
Het |
| Rad17 |
A |
T |
13: 100,766,031 (GRCm39) |
S366T |
probably damaging |
Het |
| Rpp14 |
G |
A |
14: 8,083,934 (GRCm38) |
G30E |
possibly damaging |
Het |
| Slco1a6 |
A |
C |
6: 142,106,743 (GRCm39) |
C15G |
probably benign |
Het |
| Spag9 |
T |
A |
11: 93,988,692 (GRCm39) |
F571I |
probably benign |
Het |
| Ttc27 |
T |
A |
17: 75,087,811 (GRCm39) |
C459S |
probably damaging |
Het |
| Washc2 |
A |
G |
6: 116,233,637 (GRCm39) |
T888A |
probably benign |
Het |
| Zcchc7 |
A |
T |
4: 44,931,318 (GRCm39) |
H490L |
possibly damaging |
Het |
|
| Other mutations in Mat2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00509:Mat2b
|
APN |
11 |
40,575,554 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
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