Incidental Mutation 'IGL01018:Mthfd1l'
ID53832
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mthfd1l
Ensembl Gene ENSMUSG00000040675
Gene Namemethylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
SynonymsFthfsdc1, 2410004L15Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01018
Quality Score
Status
Chromosome10
Chromosomal Location3973118-4167081 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 4032345 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043735] [ENSMUST00000117291] [ENSMUST00000120585]
Predicted Effect probably benign
Transcript: ENSMUST00000043735
SMART Domains Protein: ENSMUSP00000036178
Gene: ENSMUSG00000040675

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
low complexity region 30 41 N/A INTRINSIC
Pfam:THF_DHG_CYH 71 179 2.9e-15 PFAM
Pfam:THF_DHG_CYH_C 182 337 1.1e-27 PFAM
Pfam:FTHFS 358 977 1.2e-260 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117291
SMART Domains Protein: ENSMUSP00000112870
Gene: ENSMUSG00000040675

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
low complexity region 30 41 N/A INTRINSIC
Pfam:THF_DHG_CYH 71 179 2.9e-15 PFAM
Pfam:THF_DHG_CYH_C 182 337 1.1e-27 PFAM
Pfam:FTHFS 358 977 1.2e-260 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120585
SMART Domains Protein: ENSMUSP00000112897
Gene: ENSMUSG00000040675

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
low complexity region 30 41 N/A INTRINSIC
Pfam:THF_DHG_CYH 70 179 8e-17 PFAM
Pfam:THF_DHG_CYH_C 182 337 5.4e-28 PFAM
Pfam:FTHFS 359 977 7.2e-260 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154517
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in the synthesis of tetrahydrofolate (THF) in the mitochondrion. THF is important in the de novo synthesis of purines and thymidylate and in the regeneration of methionine from homocysteine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2011]
PHENOTYPE: Homozygous deletion of this gene causes embryonic lethality, delayed embryonic growth, craniofacial anomalies, and neural tube defects including craniorachischisis, exencephaly and/or a wavy neural tube. Maternal formate supplementation reduces the incidence of NTDs and improves embryonic growth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik T C 1: 26,682,910 E1063G probably damaging Het
5530400C23Rik G T 6: 133,294,497 R168I probably benign Het
5530400C23Rik A T 6: 133,294,498 R168S probably benign Het
9230019H11Rik A G 10: 3,120,231 noncoding transcript Het
9230019H11Rik A G 10: 3,120,209 noncoding transcript Het
9230019H11Rik G A 10: 3,125,031 noncoding transcript Het
9230019H11Rik C T 10: 3,125,193 noncoding transcript Het
Armt1 C T 10: 4,454,237 probably benign Het
Armt1 T A 10: 4,450,732 S160T probably benign Het
Ccdc170 T C 10: 4,512,788 W35R probably benign Het
Ccdc170 G T 10: 4,514,155 A99S probably benign Het
Ccdc170 T C 10: 4,514,114 V31A probably benign Het
Glp2r C A 11: 67,709,644 V460F probably benign Het
Gm21411 T C 4: 146,892,577 Q80R probably benign Het
Gm21411 C T 4: 146,892,610 S69N possibly damaging Het
Gm21671 G T 5: 25,950,723 H208N probably benign Het
Gm21738 G A 14: 19,418,856 P24L probably benign Het
H2-M10.6 C T 17: 36,812,220 A15V probably benign Het
H60c T C 10: 3,259,766 M174V probably benign Het
H60c A C 10: 3,260,343 F69V probably benign Het
Ipcef1 C T 10: 6,919,968 R144Q probably damaging Het
Ipcef1 G A 10: 6,890,551 A382V probably benign Het
Mapk8ip3 T G 17: 24,899,719 probably benign Het
Mtrf1l A G 10: 5,814,180 probably benign Het
Myo18b T C 5: 112,809,747 E1450G probably damaging Het
Obscn C T 11: 59,128,069 V973M probably damaging Het
Olfr414 G A 1: 174,431,342 V305I probably benign Het
Oprm1 T C 10: 7,037,170 probably benign Het
Pou5f2 A G 13: 78,025,938 probably benign Het
Ralgapa2 G A 2: 146,410,193 H891Y probably benign Het
Ralgapa2 T G 2: 146,410,192 H806P probably benign Het
Rmnd1 A T 10: 4,427,290 S130T probably benign Het
Rmnd1 A G 10: 4,427,392 W96R probably benign Het
Trappc12 A C 12: 28,691,854 probably benign Het
Vip A G 10: 5,642,480 D40G probably benign Het
Vmn2r125 T A 4: 156,351,226 L300M probably benign Het
Vmn2r125 T C 4: 156,350,612 probably benign Het
Vmn2r125 C T 4: 156,351,038 T237I probably benign Het
Vmn2r125 A T 4: 156,351,037 T237S probably benign Het
Vmn2r125 A C 4: 156,350,900 Q191P probably benign Het
Vmn2r125 C A 4: 156,350,899 Q191K probably benign Het
Vmn2r125 A G 4: 156,350,845 N173D probably damaging Het
Vmn2r40 G A 7: 8,908,176 S706F probably damaging Het
Vmn2r-ps159 A T 4: 156,338,146 noncoding transcript Het
Vmn2r-ps159 C A 4: 156,338,435 noncoding transcript Het
Vmn2r-ps159 T C 4: 156,334,263 noncoding transcript Het
Vmn2r-ps159 T C 4: 156,335,590 noncoding transcript Het
Vmn2r-ps159 G A 4: 156,334,605 noncoding transcript Het
Zfp14 T A 7: 30,038,101 R486S probably damaging Het
Other mutations in Mthfd1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00932:Mthfd1l APN 10 3989971 synonymous probably benign
IGL01013:Mthfd1l APN 10 4030716 missense probably damaging 1.00
IGL01018:Mthfd1l APN 10 3978708 missense probably benign
IGL01018:Mthfd1l APN 10 4007800 missense probably benign
IGL01068:Mthfd1l APN 10 4028428 missense probably damaging 1.00
IGL01584:Mthfd1l APN 10 4016738 missense probably damaging 0.97
IGL01609:Mthfd1l APN 10 4018567 missense probably benign 0.00
IGL02272:Mthfd1l APN 10 4041812 missense probably damaging 0.99
IGL02344:Mthfd1l APN 10 4048272 splice site probably null
IGL02429:Mthfd1l APN 10 4089334 missense probably damaging 1.00
IGL02503:Mthfd1l APN 10 4083824 missense probably damaging 1.00
IGL02748:Mthfd1l APN 10 4018587 missense possibly damaging 0.94
IGL02748:Mthfd1l APN 10 3980268 critical splice donor site probably null
IGL03031:Mthfd1l APN 10 4018601 critical splice donor site probably null
IGL03047:Mthfd1l APN 10 3980409 splice site probably benign
IGL03215:Mthfd1l APN 10 4041826 missense probably benign 0.14
IGL03367:Mthfd1l APN 10 4106536 splice site probably benign
R0047:Mthfd1l UTSW 10 3978727 splice site probably benign
R0047:Mthfd1l UTSW 10 3978727 splice site probably benign
R0107:Mthfd1l UTSW 10 4041838 missense probably benign
R0348:Mthfd1l UTSW 10 4056766 missense probably damaging 1.00
R0496:Mthfd1l UTSW 10 4090006 missense probably benign
R0658:Mthfd1l UTSW 10 4047976 splice site probably null
R1177:Mthfd1l UTSW 10 3985661 missense possibly damaging 0.82
R1676:Mthfd1l UTSW 10 4083877 critical splice donor site probably null
R1703:Mthfd1l UTSW 10 4148093 missense probably damaging 1.00
R1888:Mthfd1l UTSW 10 4106528 missense probably damaging 1.00
R1888:Mthfd1l UTSW 10 4106528 missense probably damaging 1.00
R1891:Mthfd1l UTSW 10 4032284 nonsense probably null
R2014:Mthfd1l UTSW 10 4047894 missense probably benign
R2061:Mthfd1l UTSW 10 4103288 missense probably benign 0.00
R2197:Mthfd1l UTSW 10 4028399 missense probably damaging 1.00
R2360:Mthfd1l UTSW 10 4056771 missense probably damaging 1.00
R3085:Mthfd1l UTSW 10 4090007 missense probably benign 0.00
R3176:Mthfd1l UTSW 10 4148025 missense probably damaging 1.00
R3276:Mthfd1l UTSW 10 4148025 missense probably damaging 1.00
R4065:Mthfd1l UTSW 10 4032242 missense probably damaging 1.00
R4612:Mthfd1l UTSW 10 4030717 missense probably damaging 1.00
R4803:Mthfd1l UTSW 10 4007840 missense possibly damaging 0.52
R4883:Mthfd1l UTSW 10 4007775 missense probably benign 0.11
R4932:Mthfd1l UTSW 10 3980241 missense probably benign 0.00
R5507:Mthfd1l UTSW 10 4106432 missense probably benign 0.20
R5687:Mthfd1l UTSW 10 3990002 splice site probably null
R5694:Mthfd1l UTSW 10 4035239 missense possibly damaging 0.90
R5727:Mthfd1l UTSW 10 4103302 missense possibly damaging 0.86
R5908:Mthfd1l UTSW 10 4089392 missense probably damaging 1.00
R5951:Mthfd1l UTSW 10 4048222 missense probably damaging 1.00
R6060:Mthfd1l UTSW 10 4148095 missense probably damaging 1.00
R6330:Mthfd1l UTSW 10 3980234 missense probably benign
R6583:Mthfd1l UTSW 10 4047937 missense probably damaging 0.96
R6846:Mthfd1l UTSW 10 4047898 missense probably damaging 1.00
R7105:Mthfd1l UTSW 10 4103261 missense not run
X0003:Mthfd1l UTSW 10 4089303 missense probably damaging 0.99
Z1088:Mthfd1l UTSW 10 4007844 missense probably benign 0.00
Posted On2013-06-28