Incidental Mutation 'R4456:Mri1'
| ID |
329190 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mri1
|
| Ensembl Gene |
ENSMUSG00000004996 |
| Gene Name |
methylthioribose-1-phosphate isomerase 1 |
| Synonyms |
2410018C20Rik |
| MMRRC Submission |
041716-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.322)
|
| Stock # |
R4456 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
84977205-84983953 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 84983035 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 129
(A129S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122623
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005120]
[ENSMUST00000098578]
[ENSMUST00000126435]
[ENSMUST00000172320]
|
| AlphaFold |
Q9CQT1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005120
|
| SMART Domains |
Protein: ENSMUSP00000005120
Gene: ENSMUSG00000004994
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF572
|
1 |
198 |
1.7e-85 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000005122
AA Change: A124S
|
| SMART Domains |
Protein: ENSMUSP00000005122
Gene: ENSMUSG00000004996
AA Change: A124S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IF-2B
|
40 |
152 |
9.8e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098578
|
| SMART Domains |
Protein: ENSMUSP00000096177
Gene: ENSMUSG00000004994
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF572
|
1 |
384 |
1.4e-101 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000125498
AA Change: A3S
|
| SMART Domains |
Protein: ENSMUSP00000117115
Gene: ENSMUSG00000004996
AA Change: A3S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IF-2B
|
2 |
226 |
5.9e-55 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126435
AA Change: A129S
PolyPhen 2
Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000122623
Gene: ENSMUSG00000004996
AA Change: A129S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IF-2B
|
44 |
346 |
4.8e-81 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127747
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140850
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164476
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166285
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172320
|
| SMART Domains |
Protein: ENSMUSP00000128605
Gene: ENSMUSG00000004994
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF572
|
1 |
68 |
1.4e-31 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
93% (42/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This enzyme functions in the methionine salvage pathway by catalyzing the interconversion of methylthioribose-1-phosphate and methythioribulose-1-phosphate. Elevated expression of the encoded protein is associated with metastatic melanoma and this protein promotes melanoma cell invasion independent of its enzymatic activity. Mutations in this gene may be associated with vanishing white matter disease (VMWD). [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
A |
G |
11: 109,833,071 (GRCm39) |
F1210L |
probably benign |
Het |
| Amfr |
C |
T |
8: 94,711,568 (GRCm39) |
A323T |
possibly damaging |
Het |
| Apob |
T |
A |
12: 8,065,445 (GRCm39) |
I4105N |
probably damaging |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Cdc42ep1 |
A |
G |
15: 78,734,091 (GRCm39) |
E397G |
possibly damaging |
Het |
| Cdkn2d |
C |
G |
9: 21,202,185 (GRCm39) |
V21L |
probably benign |
Het |
| Dnmt1 |
T |
C |
9: 20,821,138 (GRCm39) |
T1250A |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,229,800 (GRCm39) |
K2642N |
probably benign |
Het |
| Emcn |
A |
T |
3: 137,085,608 (GRCm39) |
K69* |
probably null |
Het |
| Eya1 |
C |
T |
1: 14,253,420 (GRCm39) |
V519M |
probably damaging |
Het |
| Fbxo38 |
G |
T |
18: 62,659,320 (GRCm39) |
R326S |
probably damaging |
Het |
| Fcer1g |
A |
G |
1: 171,061,808 (GRCm39) |
S3P |
probably benign |
Het |
| Glp1r |
G |
T |
17: 31,137,949 (GRCm39) |
E127* |
probably null |
Het |
| Gnmt |
G |
T |
17: 47,039,910 (GRCm39) |
H56Q |
probably benign |
Het |
| Hectd4 |
C |
T |
5: 121,446,334 (GRCm39) |
T1513I |
possibly damaging |
Het |
| Hsd3b1 |
G |
A |
3: 98,763,459 (GRCm39) |
T48I |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,515,210 (GRCm39) |
C2878S |
probably benign |
Het |
| Loxhd1 |
A |
G |
18: 77,486,785 (GRCm39) |
Y1290C |
probably damaging |
Het |
| Mkln1 |
A |
G |
6: 31,403,707 (GRCm39) |
Y76C |
probably damaging |
Het |
| Mroh2b |
A |
T |
15: 4,977,407 (GRCm39) |
H1253L |
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Mthfsd |
C |
T |
8: 121,832,504 (GRCm39) |
V63I |
possibly damaging |
Het |
| Naip2 |
T |
A |
13: 100,291,419 (GRCm39) |
H1173L |
probably benign |
Het |
| Nbea |
A |
G |
3: 55,551,205 (GRCm39) |
V2653A |
probably benign |
Het |
| Nckap5 |
A |
T |
1: 125,842,472 (GRCm39) |
|
probably benign |
Het |
| Notch4 |
G |
A |
17: 34,802,807 (GRCm39) |
V1378M |
probably damaging |
Het |
| Or51a42 |
A |
G |
7: 103,708,507 (GRCm39) |
S101P |
possibly damaging |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rasl12 |
A |
G |
9: 65,305,866 (GRCm39) |
K7R |
probably null |
Het |
| Rnf4 |
A |
G |
5: 34,508,705 (GRCm39) |
Y189C |
probably benign |
Het |
| Shroom3 |
A |
G |
5: 93,088,858 (GRCm39) |
H536R |
probably benign |
Het |
| Slc2a4 |
G |
A |
11: 69,834,148 (GRCm39) |
|
probably benign |
Het |
| Tbc1d5 |
A |
C |
17: 51,089,369 (GRCm39) |
S604A |
probably damaging |
Het |
| Tcp11l1 |
A |
T |
2: 104,514,567 (GRCm39) |
V400E |
probably damaging |
Het |
| Tom1l2 |
G |
T |
11: 60,243,641 (GRCm39) |
|
probably benign |
Het |
| Ttc28 |
AC |
A |
5: 111,371,924 (GRCm39) |
|
probably null |
Het |
| Txndc15 |
A |
G |
13: 55,865,977 (GRCm39) |
D147G |
possibly damaging |
Het |
|
| Other mutations in Mri1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00708:Mri1
|
APN |
8 |
84,978,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02226:Mri1
|
APN |
8 |
84,982,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02642:Mri1
|
APN |
8 |
84,983,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03365:Mri1
|
APN |
8 |
84,978,262 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1722:Mri1
|
UTSW |
8 |
84,980,554 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4372:Mri1
|
UTSW |
8 |
84,980,554 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5943:Mri1
|
UTSW |
8 |
84,980,948 (GRCm39) |
nonsense |
probably null |
|
|
R7084:Mri1
|
UTSW |
8 |
84,977,708 (GRCm39) |
missense |
|
|
|
R7142:Mri1
|
UTSW |
8 |
84,983,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7340:Mri1
|
UTSW |
8 |
84,983,525 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7763:Mri1
|
UTSW |
8 |
84,977,657 (GRCm39) |
missense |
|
|
|
R7981:Mri1
|
UTSW |
8 |
84,983,792 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9343:Mri1
|
UTSW |
8 |
84,983,796 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9577:Mri1
|
UTSW |
8 |
84,982,929 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9778:Mri1
|
UTSW |
8 |
84,980,933 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9782:Mri1
|
UTSW |
8 |
84,980,933 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCCTAACAATTGAAGGTGC -3'
(R):5'- TGACGTCATCATCACAGAGG -3'
Sequencing Primer
(F):5'- GTGCCTCCTCACCTAACG -3'
(R):5'- TCACAGAGGTAAAGGGTTTCCTCC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation