Incidental Mutation 'R9517:Mtrr'
| ID |
718669 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtrr
|
| Ensembl Gene |
ENSMUSG00000034617 |
| Gene Name |
5-methyltetrahydrofolate-homocysteine methyltransferase reductase |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9517 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
68708899-68730268 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 68728730 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 23
(S23R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039810
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045827]
[ENSMUST00000051784]
[ENSMUST00000220973]
[ENSMUST00000221259]
[ENSMUST00000222107]
[ENSMUST00000222631]
[ENSMUST00000222660]
[ENSMUST00000223101]
[ENSMUST00000223187]
[ENSMUST00000223319]
[ENSMUST00000223398]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045827
AA Change: S23R
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000039810
Gene: ENSMUSG00000034617
AA Change: S23R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Flavodoxin_5
|
5 |
126 |
2.7e-9 |
PFAM |
|
Pfam:Flavodoxin_1
|
6 |
142 |
4.3e-32 |
PFAM |
|
Pfam:FAD_binding_1
|
267 |
490 |
2.6e-51 |
PFAM |
|
Pfam:NAD_binding_1
|
540 |
660 |
5.4e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051784
|
| SMART Domains |
Protein: ENSMUSP00000061737
Gene: ENSMUSG00000021532
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
178 |
189 |
N/A |
INTRINSIC |
|
Pfam:FAST_1
|
410 |
478 |
2.9e-22 |
PFAM |
|
Pfam:FAST_2
|
491 |
581 |
3.1e-28 |
PFAM |
|
RAP
|
594 |
651 |
7.58e-20 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220973
AA Change: S23R
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221259
AA Change: S23R
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222107
AA Change: S23R
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222631
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222660
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222685
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223101
AA Change: S23R
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223187
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223319
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223398
AA Change: S23R
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: Methionine is an essential amino acid required for protein synthesis and one-carbon metabolism. Its synthesis is catalyzed by the enzyme methionine synthase. Methionine synthase eventually becomes inactive due to the oxidation of its cob(I)alamin cofactor. The protein encoded by this gene regenerates a functional methionine synthase via reductive methylation. It is a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. Mutations in a similar gene in human have been associated with cblE complementation type homocystinuria-megaloblastic anemia and susceptibility to folate-sensitive neural tube defects. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2015]
PHENOTYPE: Mice homozygous for a hypomorphic gene trap allele are viable and display a male-specific reduction in postnatal weight gain as well as hyperhomocysteinemia, hypomethionemia, increased tissue methyltetrahydrofolate, and AdoMet/AdoHcy ratios that range from high to slightly below normal. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(46) : Gene trapped(46) |
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
A |
T |
6: 23,113,528 (GRCm39) |
V264E |
probably damaging |
Het |
| Abca15 |
A |
G |
7: 119,987,424 (GRCm39) |
I1237V |
probably benign |
Het |
| Actn2 |
G |
T |
13: 12,295,317 (GRCm39) |
Q552K |
probably damaging |
Het |
| Adnp |
A |
T |
2: 168,024,866 (GRCm39) |
C810S |
possibly damaging |
Het |
| Aip |
A |
T |
19: 4,168,217 (GRCm39) |
I50K |
possibly damaging |
Het |
| Arsk |
A |
G |
13: 76,210,638 (GRCm39) |
S470P |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,407,167 (GRCm39) |
I2018K |
probably damaging |
Het |
| Aspn |
G |
A |
13: 49,705,275 (GRCm39) |
D46N |
|
Het |
| C6 |
G |
T |
15: 4,827,914 (GRCm39) |
C761F |
probably damaging |
Het |
| Cdk12 |
A |
T |
11: 98,109,910 (GRCm39) |
T644S |
unknown |
Het |
| Cela3a |
T |
A |
4: 137,131,825 (GRCm39) |
I123F |
probably damaging |
Het |
| Chchd3 |
A |
T |
6: 33,026,317 (GRCm39) |
S42T |
probably benign |
Het |
| Chst5 |
A |
G |
8: 112,616,652 (GRCm39) |
S323P |
possibly damaging |
Het |
| Clec4g |
C |
A |
8: 3,767,452 (GRCm39) |
A198S |
probably damaging |
Het |
| Dcbld2 |
T |
G |
16: 58,253,819 (GRCm39) |
D185E |
probably benign |
Het |
| Dnah17 |
A |
G |
11: 117,915,440 (GRCm39) |
V4393A |
possibly damaging |
Het |
| Dock9 |
T |
C |
14: 121,829,236 (GRCm39) |
T1392A |
probably benign |
Het |
| Ell2 |
A |
G |
13: 75,912,106 (GRCm39) |
K464R |
possibly damaging |
Het |
| Eme2 |
G |
A |
17: 25,114,033 (GRCm39) |
|
probably benign |
Het |
| Eps8l1 |
T |
A |
7: 4,480,636 (GRCm39) |
I530N |
probably damaging |
Het |
| Fam186b |
G |
A |
15: 99,177,616 (GRCm39) |
A570V |
probably damaging |
Het |
| Fbxw25 |
A |
G |
9: 109,480,892 (GRCm39) |
Y263H |
|
Het |
| Frem1 |
T |
C |
4: 82,901,714 (GRCm39) |
Y938C |
probably damaging |
Het |
| Gdf10 |
A |
G |
14: 33,654,522 (GRCm39) |
D343G |
probably benign |
Het |
| Gm3415 |
C |
T |
5: 146,493,406 (GRCm39) |
R84C |
possibly damaging |
Het |
| Hap1 |
A |
T |
11: 100,240,188 (GRCm39) |
V536D |
possibly damaging |
Het |
| Icos |
T |
C |
1: 61,032,894 (GRCm39) |
F31S |
probably damaging |
Het |
| Inpp5d |
T |
A |
1: 87,638,853 (GRCm39) |
S812T |
probably benign |
Het |
| Kcng4 |
A |
G |
8: 120,353,070 (GRCm39) |
V280A |
probably benign |
Het |
| Ldlr |
T |
C |
9: 21,655,240 (GRCm39) |
V623A |
possibly damaging |
Het |
| Lipc |
T |
C |
9: 70,709,560 (GRCm39) |
T396A |
probably benign |
Het |
| Lrit2 |
T |
A |
14: 36,794,272 (GRCm39) |
C445* |
probably null |
Het |
| Lrrc37 |
G |
A |
11: 103,433,416 (GRCm39) |
T3251I |
unknown |
Het |
| Mcc |
C |
A |
18: 44,794,794 (GRCm39) |
G10C |
probably damaging |
Het |
| Mtfr1l |
T |
C |
4: 134,256,515 (GRCm39) |
T217A |
probably benign |
Het |
| Myb |
C |
T |
10: 21,030,612 (GRCm39) |
D62N |
probably benign |
Het |
| Myo7a |
A |
T |
7: 97,721,166 (GRCm39) |
D1255E |
probably damaging |
Het |
| Nfatc1 |
T |
C |
18: 80,725,406 (GRCm39) |
K453E |
probably damaging |
Het |
| Nrap |
A |
T |
19: 56,360,277 (GRCm39) |
M466K |
probably benign |
Het |
| Or10j3 |
C |
A |
1: 173,031,346 (GRCm39) |
A141D |
possibly damaging |
Het |
| Or11g26 |
C |
A |
14: 50,752,770 (GRCm39) |
F36L |
probably benign |
Het |
| Or4c106 |
G |
A |
2: 88,682,947 (GRCm39) |
V218I |
probably benign |
Het |
| Or4f54 |
T |
G |
2: 111,123,033 (GRCm39) |
M140R |
possibly damaging |
Het |
| Or8b41 |
T |
A |
9: 38,054,623 (GRCm39) |
M59K |
probably damaging |
Het |
| Osbpl1a |
A |
G |
18: 13,042,965 (GRCm39) |
V192A |
probably benign |
Het |
| Pgd |
T |
C |
4: 149,249,668 (GRCm39) |
T35A |
possibly damaging |
Het |
| Plcxd3 |
G |
T |
15: 4,405,160 (GRCm39) |
|
probably benign |
Het |
| Pramel23 |
T |
A |
4: 143,424,930 (GRCm39) |
D171V |
possibly damaging |
Het |
| Prmt7 |
A |
G |
8: 106,953,930 (GRCm39) |
T124A |
probably damaging |
Het |
| Pzp |
A |
G |
6: 128,489,117 (GRCm39) |
|
probably null |
Het |
| Rilpl2 |
A |
G |
5: 124,607,788 (GRCm39) |
V144A |
probably benign |
Het |
| Rin3 |
T |
C |
12: 102,334,895 (GRCm39) |
S269P |
unknown |
Het |
| Setbp1 |
T |
C |
18: 78,901,322 (GRCm39) |
S782G |
probably damaging |
Het |
| Sgce |
A |
T |
6: 4,694,153 (GRCm39) |
F268I |
probably damaging |
Het |
| Sox6 |
A |
G |
7: 115,111,970 (GRCm39) |
L552S |
possibly damaging |
Het |
| Tent4a |
A |
G |
13: 69,655,059 (GRCm39) |
C472R |
probably damaging |
Het |
| Vipr1 |
G |
A |
9: 121,471,993 (GRCm39) |
|
probably null |
Het |
| Vmn1r11 |
A |
G |
6: 57,114,555 (GRCm39) |
D73G |
possibly damaging |
Het |
| Vmn1r39 |
A |
C |
6: 66,782,258 (GRCm39) |
I20R |
possibly damaging |
Het |
| Vmn2r82 |
C |
T |
10: 79,213,641 (GRCm39) |
R76* |
probably null |
Het |
| Zhx1 |
A |
T |
15: 57,915,812 (GRCm39) |
Y811* |
probably null |
Het |
|
| Other mutations in Mtrr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01787:Mtrr
|
APN |
13 |
68,719,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01806:Mtrr
|
APN |
13 |
68,728,719 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01808:Mtrr
|
APN |
13 |
68,714,212 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01875:Mtrr
|
APN |
13 |
68,720,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02137:Mtrr
|
APN |
13 |
68,716,920 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL02186:Mtrr
|
APN |
13 |
68,712,476 (GRCm39) |
missense |
probably benign |
|
|
IGL03114:Mtrr
|
APN |
13 |
68,712,441 (GRCm39) |
nonsense |
probably null |
|
|
3-1:Mtrr
|
UTSW |
13 |
68,723,135 (GRCm39) |
critical splice donor site |
probably null |
|
|
H8562:Mtrr
|
UTSW |
13 |
68,712,496 (GRCm39) |
missense |
probably damaging |
0.97 |
|
N/A:Mtrr
|
UTSW |
13 |
68,723,516 (GRCm39) |
splice site |
probably benign |
|
|
R0007:Mtrr
|
UTSW |
13 |
68,723,449 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0741:Mtrr
|
UTSW |
13 |
68,727,658 (GRCm39) |
splice site |
probably null |
|
|
R2140:Mtrr
|
UTSW |
13 |
68,717,059 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R2513:Mtrr
|
UTSW |
13 |
68,715,092 (GRCm39) |
nonsense |
probably null |
|
|
R4604:Mtrr
|
UTSW |
13 |
68,712,631 (GRCm39) |
splice site |
probably null |
|
|
R5501:Mtrr
|
UTSW |
13 |
68,727,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5658:Mtrr
|
UTSW |
13 |
68,717,034 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6477:Mtrr
|
UTSW |
13 |
68,718,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6694:Mtrr
|
UTSW |
13 |
68,712,452 (GRCm39) |
missense |
probably benign |
|
|
R6979:Mtrr
|
UTSW |
13 |
68,718,122 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7094:Mtrr
|
UTSW |
13 |
68,727,803 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7296:Mtrr
|
UTSW |
13 |
68,716,979 (GRCm39) |
nonsense |
probably null |
|
|
R7354:Mtrr
|
UTSW |
13 |
68,714,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7378:Mtrr
|
UTSW |
13 |
68,712,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7546:Mtrr
|
UTSW |
13 |
68,730,268 (GRCm39) |
unclassified |
probably benign |
|
|
R7562:Mtrr
|
UTSW |
13 |
68,714,336 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7759:Mtrr
|
UTSW |
13 |
68,718,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7975:Mtrr
|
UTSW |
13 |
68,727,666 (GRCm39) |
splice site |
probably null |
|
|
R8101:Mtrr
|
UTSW |
13 |
68,725,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8168:Mtrr
|
UTSW |
13 |
68,720,732 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9097:Mtrr
|
UTSW |
13 |
68,723,441 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9260:Mtrr
|
UTSW |
13 |
68,728,674 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9295:Mtrr
|
UTSW |
13 |
68,719,258 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9516:Mtrr
|
UTSW |
13 |
68,720,755 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9627:Mtrr
|
UTSW |
13 |
68,725,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTGCAATGAGGCTGTGAG -3'
(R):5'- CTGCGATTCGTTTAAAATCAGTGC -3'
Sequencing Primer
(F):5'- CAGGAGGATCCAAAGTTCATTTCTCC -3'
(R):5'- ACAAGTTTAGAGAAGGCTGTTTG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation