Incidental Mutation 'IGL03002:Mthfsd'
ID |
407407 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mthfsd
|
Ensembl Gene |
ENSMUSG00000031816 |
Gene Name |
methenyltetrahydrofolate synthetase domain containing |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.096)
|
Stock # |
IGL03002
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
121818367-121835131 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 121835018 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148598
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047282]
[ENSMUST00000116415]
[ENSMUST00000126431]
[ENSMUST00000127664]
[ENSMUST00000128052]
[ENSMUST00000133037]
[ENSMUST00000151576]
[ENSMUST00000134758]
[ENSMUST00000139782]
|
AlphaFold |
Q3URQ7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047282
|
SMART Domains |
Protein: ENSMUSP00000044172 Gene: ENSMUSG00000031816
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 benign
Transcript: ENSMUST00000116415
|
SMART Domains |
Protein: ENSMUSP00000112116 Gene: ENSMUSG00000031816
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 |
probably benign
Transcript: ENSMUST00000151576
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149718
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134758
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138908
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145991
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156606
|
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadl |
T |
C |
1: 66,876,128 (GRCm39) |
I398V |
probably benign |
Het |
Adcy4 |
A |
T |
14: 56,011,013 (GRCm39) |
C635S |
probably benign |
Het |
Aoc1l3 |
A |
G |
6: 48,964,052 (GRCm39) |
H20R |
probably benign |
Het |
Asic4 |
C |
A |
1: 75,427,967 (GRCm39) |
D164E |
possibly damaging |
Het |
C8g |
T |
A |
2: 25,388,823 (GRCm39) |
*203L |
probably null |
Het |
Cad |
T |
C |
5: 31,212,330 (GRCm39) |
V11A |
probably benign |
Het |
Cckar |
T |
C |
5: 53,860,247 (GRCm39) |
N194S |
probably damaging |
Het |
Cdc123 |
T |
C |
2: 5,803,166 (GRCm39) |
|
probably benign |
Het |
Chrm5 |
T |
C |
2: 112,310,706 (GRCm39) |
T137A |
probably damaging |
Het |
Cyp1a1 |
A |
G |
9: 57,609,724 (GRCm39) |
|
probably benign |
Het |
Dapk3 |
G |
T |
10: 81,026,437 (GRCm39) |
E187* |
probably null |
Het |
Dmtf1 |
T |
C |
5: 9,190,474 (GRCm39) |
E80G |
probably damaging |
Het |
Dusp19 |
T |
A |
2: 80,461,279 (GRCm39) |
N189K |
probably damaging |
Het |
Gfral |
A |
G |
9: 76,104,520 (GRCm39) |
V164A |
possibly damaging |
Het |
Hk1 |
A |
T |
10: 62,107,578 (GRCm39) |
V799E |
probably damaging |
Het |
Iars2 |
C |
T |
1: 185,055,013 (GRCm39) |
|
probably null |
Het |
Jcad |
T |
A |
18: 4,675,153 (GRCm39) |
Y972N |
probably benign |
Het |
Lrp1 |
A |
T |
10: 127,425,505 (GRCm39) |
D708E |
probably damaging |
Het |
Mbtd1 |
T |
A |
11: 93,815,316 (GRCm39) |
H301Q |
probably benign |
Het |
Med12 |
A |
G |
X: 100,339,461 (GRCm39) |
T2004A |
probably benign |
Het |
Mib1 |
T |
C |
18: 10,798,356 (GRCm39) |
I739T |
possibly damaging |
Het |
Mybpc3 |
T |
G |
2: 90,954,234 (GRCm39) |
F369C |
probably damaging |
Het |
Nfatc2 |
C |
T |
2: 168,376,904 (GRCm39) |
V329M |
probably damaging |
Het |
Ngef |
A |
T |
1: 87,437,114 (GRCm39) |
|
probably null |
Het |
Nlrp1b |
T |
C |
11: 71,059,685 (GRCm39) |
E759G |
probably benign |
Het |
Or10aa3 |
C |
A |
1: 173,878,191 (GRCm39) |
T84N |
probably benign |
Het |
Prdm4 |
T |
C |
10: 85,729,016 (GRCm39) |
E790G |
probably benign |
Het |
Psmd12 |
A |
G |
11: 107,376,607 (GRCm39) |
D81G |
probably benign |
Het |
Rnf144b |
A |
G |
13: 47,396,359 (GRCm39) |
H232R |
probably damaging |
Het |
Sec63 |
C |
T |
10: 42,686,905 (GRCm39) |
T475M |
possibly damaging |
Het |
Slc16a4 |
A |
T |
3: 107,208,102 (GRCm39) |
N204I |
probably benign |
Het |
Socs1 |
T |
C |
16: 10,602,404 (GRCm39) |
N111S |
probably damaging |
Het |
Srpra |
A |
G |
9: 35,126,017 (GRCm39) |
N432D |
probably damaging |
Het |
Srrm2 |
A |
G |
17: 24,034,708 (GRCm39) |
|
probably benign |
Het |
Tgoln1 |
A |
G |
6: 72,593,055 (GRCm39) |
S142P |
possibly damaging |
Het |
Trbv13-1 |
A |
G |
6: 41,093,169 (GRCm39) |
N34S |
probably benign |
Het |
Vmn2r26 |
T |
C |
6: 124,016,754 (GRCm39) |
V406A |
possibly damaging |
Het |
Vsig1 |
G |
T |
X: 139,827,088 (GRCm39) |
G79V |
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 |
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 |
|
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 |
|
Posted On |
2016-08-02 |