Incidental Mutation 'R6652:Mthfsd'
| ID |
528094 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mthfsd
|
| Ensembl Gene |
ENSMUSG00000031816 |
| Gene Name |
methenyltetrahydrofolate synthetase domain containing |
| Synonyms |
|
| MMRRC Submission |
044773-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R6652 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
121818367-121835131 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 121825560 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 337
(L337Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112116
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047282]
[ENSMUST00000116415]
[ENSMUST00000126431]
[ENSMUST00000127664]
[ENSMUST00000128052]
[ENSMUST00000133037]
[ENSMUST00000134758]
[ENSMUST00000139782]
|
| AlphaFold |
Q3URQ7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047282
AA Change: L318Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044172
Gene: ENSMUSG00000031816
AA Change: L318Q
| 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 |
probably damaging
Transcript: ENSMUST00000116415
AA Change: L337Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112116
Gene: ENSMUSG00000031816
AA Change: L337Q
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000133058
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134758
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138908
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140260
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213028
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149718
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156606
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.7%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,846,164 (GRCm39) |
D605G |
probably damaging |
Het |
| Cfh |
A |
T |
1: 140,071,806 (GRCm39) |
I294N |
probably benign |
Het |
| Clk3 |
A |
G |
9: 57,669,078 (GRCm39) |
S49P |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,229,403 (GRCm39) |
V1895A |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,229,547 (GRCm39) |
D1847G |
probably damaging |
Het |
| Cwf19l1 |
T |
C |
19: 44,103,138 (GRCm39) |
D359G |
probably benign |
Het |
| Dag1 |
A |
T |
9: 108,086,289 (GRCm39) |
M284K |
probably damaging |
Het |
| Ergic2 |
T |
C |
6: 148,091,079 (GRCm39) |
Y211C |
probably damaging |
Het |
| Espnl |
A |
C |
1: 91,272,421 (GRCm39) |
I594L |
probably benign |
Het |
| Fam193b |
A |
G |
13: 55,690,603 (GRCm39) |
S226P |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,143,088 (GRCm39) |
I4254L |
probably benign |
Het |
| Fhdc1 |
T |
C |
3: 84,371,631 (GRCm39) |
Y108C |
probably damaging |
Het |
| Fut9 |
G |
C |
4: 25,620,619 (GRCm39) |
T65S |
probably benign |
Het |
| Gm9507 |
A |
T |
10: 77,647,493 (GRCm39) |
|
probably benign |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Grap2 |
A |
T |
15: 80,532,723 (GRCm39) |
N297Y |
probably damaging |
Het |
| Igfn1 |
A |
G |
1: 135,891,609 (GRCm39) |
F2302S |
probably damaging |
Het |
| Ighv1-81 |
T |
A |
12: 115,884,051 (GRCm39) |
I67F |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,060,059 (GRCm39) |
|
probably null |
Het |
| Kti12 |
T |
A |
4: 108,705,730 (GRCm39) |
S215T |
probably benign |
Het |
| Mc1r |
G |
A |
8: 124,134,370 (GRCm39) |
G41D |
probably damaging |
Het |
| Mov10l1 |
A |
G |
15: 88,878,105 (GRCm39) |
Y129C |
probably damaging |
Het |
| Musk |
C |
T |
4: 58,368,977 (GRCm39) |
A629V |
probably damaging |
Het |
| Nadsyn1 |
A |
T |
7: 143,364,955 (GRCm39) |
M250K |
probably benign |
Het |
| Ncapd2 |
G |
A |
6: 125,163,233 (GRCm39) |
H92Y |
probably benign |
Het |
| Or4e5 |
C |
T |
14: 52,728,250 (GRCm39) |
R57Q |
probably benign |
Het |
| Or6y1 |
G |
A |
1: 174,276,627 (GRCm39) |
C146Y |
probably damaging |
Het |
| Plec |
A |
T |
15: 76,063,974 (GRCm39) |
V2100E |
probably damaging |
Het |
| Prss37 |
C |
A |
6: 40,496,090 (GRCm39) |
|
probably benign |
Het |
| Sebox |
A |
T |
11: 78,394,631 (GRCm39) |
E32V |
probably damaging |
Het |
| Senp7 |
C |
A |
16: 55,944,257 (GRCm39) |
Q194K |
probably benign |
Het |
| Sfxn3 |
G |
A |
19: 45,038,354 (GRCm39) |
|
probably null |
Het |
| Spart |
G |
A |
3: 55,032,248 (GRCm39) |
E361K |
probably benign |
Het |
| Stn1 |
T |
C |
19: 47,496,017 (GRCm39) |
T334A |
probably benign |
Het |
| Stoml1 |
A |
G |
9: 58,164,017 (GRCm39) |
D112G |
probably damaging |
Het |
| Thap2 |
T |
A |
10: 115,212,441 (GRCm39) |
D28V |
probably damaging |
Het |
| Ubap2 |
A |
T |
4: 41,196,743 (GRCm39) |
N872K |
possibly damaging |
Het |
| Vezt |
A |
G |
10: 93,806,141 (GRCm39) |
F757L |
probably damaging |
Het |
| Vmn1r204 |
T |
C |
13: 22,740,573 (GRCm39) |
I68T |
probably damaging |
Het |
| Wnt10a |
A |
G |
1: 74,842,613 (GRCm39) |
|
probably null |
Het |
| Yipf7 |
A |
G |
5: 69,698,504 (GRCm39) |
M1T |
probably null |
Het |
| Zdhhc19 |
T |
C |
16: 32,316,047 (GRCm39) |
F48S |
probably damaging |
Het |
| Zfp317 |
C |
T |
9: 19,558,335 (GRCm39) |
T183I |
probably 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 |
|
R4456:Mthfsd
|
UTSW |
8 |
121,832,504 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
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 |
|
|
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'- TCATCACCAATGGCAAACTGTC -3'
(R):5'- GACCACAAACAGGTTCTCGAG -3'
Sequencing Primer
(F):5'- TGGCAAACTGTCACACGG -3'
(R):5'- ACAGGTTCTCGAGGAGGGTC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation