Incidental Mutation 'R4456:Mthfsd'
| ID |
329192 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mthfsd
|
| Ensembl Gene |
ENSMUSG00000031816 |
| Gene Name |
methenyltetrahydrofolate synthetase domain containing |
| Synonyms |
|
| MMRRC Submission |
041716-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R4456 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
121818367-121835131 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 121832504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 63
(V63I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112116
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047282]
[ENSMUST00000116415]
[ENSMUST00000126431]
[ENSMUST00000127664]
[ENSMUST00000128052]
[ENSMUST00000133037]
[ENSMUST00000151576]
[ENSMUST00000134758]
[ENSMUST00000139782]
|
| AlphaFold |
Q3URQ7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047282
AA Change: V44I
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000044172
Gene: ENSMUSG00000031816
AA Change: V44I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:5-FTHF_cyc-lig
|
1 |
187 |
1.1e-31 |
PFAM |
|
RRM
|
278 |
346 |
2.27e-4 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000116415
AA Change: V63I
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000112116
Gene: ENSMUSG00000031816
AA Change: V63I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:5-FTHF_cyc-lig
|
9 |
206 |
2.3e-36 |
PFAM |
|
RRM
|
297 |
365 |
2.27e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126431
|
| SMART Domains |
Protein: ENSMUSP00000119673
Gene: ENSMUSG00000031816
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
54 |
N/A |
INTRINSIC |
|
Pfam:5-FTHF_cyc-lig
|
81 |
278 |
5.2e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
| SMART Domains |
Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
|
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
|
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128052
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128503
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133037
|
| SMART Domains |
Protein: ENSMUSP00000117429
Gene: ENSMUSG00000031816
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:5-FTHF_cyc-lig
|
9 |
206 |
7.8e-32 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000151576
AA Change: V63I
PolyPhen 2
Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149718
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134758
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133058
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213028
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156606
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138908
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140260
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145991
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139782
|
| SMART Domains |
Protein: ENSMUSP00000115382
Gene: ENSMUSG00000031816
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:5-FTHF_cyc-lig
|
1 |
187 |
2.1e-29 |
PFAM |
|
| Meta Mutation Damage Score |
0.1725 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
93% (42/45) |
| 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 |
| Mri1 |
C |
A |
8: 84,983,035 (GRCm39) |
A129S |
probably benign |
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 |
| 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 Mthfsd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00786:Mthfsd
|
APN |
8 |
121,831,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03002:Mthfsd
|
APN |
8 |
121,835,018 (GRCm39) |
splice site |
probably benign |
|
|
R0076:Mthfsd
|
UTSW |
8 |
121,825,478 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0416:Mthfsd
|
UTSW |
8 |
121,827,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0745:Mthfsd
|
UTSW |
8 |
121,829,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2157:Mthfsd
|
UTSW |
8 |
121,828,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2851:Mthfsd
|
UTSW |
8 |
121,832,512 (GRCm39) |
missense |
probably benign |
0.38 |
|
R3439:Mthfsd
|
UTSW |
8 |
121,825,860 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4207:Mthfsd
|
UTSW |
8 |
121,832,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4757:Mthfsd
|
UTSW |
8 |
121,825,737 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5154:Mthfsd
|
UTSW |
8 |
121,825,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5208:Mthfsd
|
UTSW |
8 |
121,835,058 (GRCm39) |
unclassified |
probably benign |
|
|
R5496:Mthfsd
|
UTSW |
8 |
121,825,553 (GRCm39) |
nonsense |
probably null |
|
|
R6652:Mthfsd
|
UTSW |
8 |
121,825,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7309:Mthfsd
|
UTSW |
8 |
121,835,070 (GRCm39) |
unclassified |
probably benign |
|
|
R7538:Mthfsd
|
UTSW |
8 |
121,825,525 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8072:Mthfsd
|
UTSW |
8 |
121,825,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9759:Mthfsd
|
UTSW |
8 |
121,824,615 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTACCTGCAGTGCCAGGAATC -3'
(R):5'- AACTGAGTTCTGGGTTAGCC -3'
Sequencing Primer
(F):5'- AGGAATCGGACACCTTCCAGG -3'
(R):5'- AGCCCCTTCCTACCCTGGG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation