Incidental Mutation 'IGL01018:Mthfd1l'
ID 53832
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mthfd1l
Ensembl Gene ENSMUSG00000040675
Gene Name methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
Synonyms 2410004L15Rik, Fthfsdc1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01018
Quality Score
Status
Chromosome 10
Chromosomal Location 3923118-4117081 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 3982345 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043735] [ENSMUST00000117291] [ENSMUST00000120585]
AlphaFold Q3V3R1
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
5530400C23Rik G T 6: 133,271,460 (GRCm39) R168I probably benign Het
5530400C23Rik A T 6: 133,271,461 (GRCm39) R168S probably benign Het
Armt1 T A 10: 4,400,732 (GRCm39) S160T probably benign Het
Armt1 C T 10: 4,404,237 (GRCm39) probably benign Het
Ccdc170 T C 10: 4,462,788 (GRCm39) W35R probably benign Het
Ccdc170 T C 10: 4,464,114 (GRCm39) V31A probably benign Het
Ccdc170 G T 10: 4,464,155 (GRCm39) A99S probably benign Het
Glp2r C A 11: 67,600,470 (GRCm39) V460F probably benign Het
Gm21411 C T 4: 146,977,067 (GRCm39) S69N possibly damaging Het
Gm21411 T C 4: 146,977,034 (GRCm39) Q80R probably benign Het
Gm21738 G A 14: 19,418,856 (GRCm38) P24L probably benign Het
H2-M10.6 C T 17: 37,123,112 (GRCm39) A15V probably benign Het
H60c T C 10: 3,209,766 (GRCm39) M174V probably benign Het
H60c A C 10: 3,210,343 (GRCm39) F69V probably benign Het
Ipcef1 G A 10: 6,840,551 (GRCm39) A382V probably benign Het
Ipcef1 C T 10: 6,869,968 (GRCm39) R144Q probably damaging Het
Mapk8ip3 T G 17: 25,118,693 (GRCm39) probably benign Het
Mtrf1l A G 10: 5,764,180 (GRCm39) probably benign Het
Myo18b T C 5: 112,957,613 (GRCm39) E1450G probably damaging Het
Obscn C T 11: 59,018,895 (GRCm39) V973M probably damaging Het
Oprm1 T C 10: 6,987,170 (GRCm39) probably benign Het
Or6p1 G A 1: 174,258,908 (GRCm39) V305I probably benign Het
Pou5f2 A G 13: 78,174,057 (GRCm39) probably benign Het
Ralgapa2 G A 2: 146,252,113 (GRCm39) H891Y probably benign Het
Ralgapa2 T G 2: 146,252,112 (GRCm39) H806P probably benign Het
Rmnd1 A G 10: 4,377,392 (GRCm39) W96R probably benign Het
Rmnd1 A T 10: 4,377,290 (GRCm39) S130T probably benign Het
Spata31e2 T C 1: 26,721,991 (GRCm39) E1063G probably damaging Het
Speer4a3 G T 5: 26,155,721 (GRCm39) H208N probably benign Het
Trappc12 A C 12: 28,741,853 (GRCm39) probably benign Het
Ulbp3 G A 10: 3,075,031 (GRCm39) noncoding transcript Het
Ulbp3 C T 10: 3,075,193 (GRCm39) noncoding transcript Het
Ulbp3 A G 10: 3,070,231 (GRCm39) noncoding transcript Het
Ulbp3 A G 10: 3,070,209 (GRCm39) noncoding transcript Het
Vip A G 10: 5,592,480 (GRCm39) D40G probably benign Het
Vmn2r125 C A 4: 156,703,194 (GRCm39) Q191K probably benign Het
Vmn2r125 A C 4: 156,703,195 (GRCm39) Q191P probably benign Het
Vmn2r125 A T 4: 156,703,332 (GRCm39) T237S probably benign Het
Vmn2r125 A G 4: 156,703,140 (GRCm39) N173D probably damaging Het
Vmn2r125 T C 4: 156,702,907 (GRCm39) probably benign Het
Vmn2r125 T A 4: 156,703,521 (GRCm39) L300M probably benign Het
Vmn2r125 C T 4: 156,703,333 (GRCm39) T237I probably benign Het
Vmn2r129 C A 4: 156,690,730 (GRCm39) noncoding transcript Het
Vmn2r129 A T 4: 156,690,441 (GRCm39) noncoding transcript Het
Vmn2r129 G A 4: 156,686,900 (GRCm39) noncoding transcript Het
Vmn2r129 T C 4: 156,687,885 (GRCm39) noncoding transcript Het
Vmn2r129 T C 4: 156,686,558 (GRCm39) noncoding transcript Het
Vmn2r40 G A 7: 8,911,175 (GRCm39) S706F probably damaging Het
Zfp14 T A 7: 29,737,526 (GRCm39) R486S probably damaging Het
Other mutations in Mthfd1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00932:Mthfd1l APN 10 3,989,971 (GRCm38) synonymous probably benign
IGL01013:Mthfd1l APN 10 3,980,716 (GRCm39) missense probably damaging 1.00
IGL01018:Mthfd1l APN 10 3,957,800 (GRCm39) missense probably benign
IGL01018:Mthfd1l APN 10 3,928,708 (GRCm39) missense probably benign
IGL01068:Mthfd1l APN 10 3,978,428 (GRCm39) missense probably damaging 1.00
IGL01584:Mthfd1l APN 10 3,966,738 (GRCm39) missense probably damaging 0.97
IGL01609:Mthfd1l APN 10 3,968,567 (GRCm39) missense probably benign 0.00
IGL02272:Mthfd1l APN 10 3,991,812 (GRCm39) missense probably damaging 0.99
IGL02344:Mthfd1l APN 10 3,998,272 (GRCm39) splice site probably null
IGL02429:Mthfd1l APN 10 4,039,334 (GRCm39) missense probably damaging 1.00
IGL02503:Mthfd1l APN 10 4,033,824 (GRCm39) missense probably damaging 1.00
IGL02748:Mthfd1l APN 10 3,930,268 (GRCm39) critical splice donor site probably null
IGL02748:Mthfd1l APN 10 3,968,587 (GRCm39) missense possibly damaging 0.94
IGL03031:Mthfd1l APN 10 3,968,601 (GRCm39) critical splice donor site probably null
IGL03047:Mthfd1l APN 10 3,930,409 (GRCm39) splice site probably benign
IGL03215:Mthfd1l APN 10 3,991,826 (GRCm39) missense probably benign 0.14
IGL03367:Mthfd1l APN 10 4,056,536 (GRCm39) splice site probably benign
R0047:Mthfd1l UTSW 10 3,928,727 (GRCm39) splice site probably benign
R0047:Mthfd1l UTSW 10 3,928,727 (GRCm39) splice site probably benign
R0107:Mthfd1l UTSW 10 3,991,838 (GRCm39) missense probably benign
R0348:Mthfd1l UTSW 10 4,006,766 (GRCm39) missense probably damaging 1.00
R0496:Mthfd1l UTSW 10 4,040,006 (GRCm39) missense probably benign
R0658:Mthfd1l UTSW 10 3,997,976 (GRCm39) splice site probably null
R1177:Mthfd1l UTSW 10 3,935,661 (GRCm39) missense possibly damaging 0.82
R1676:Mthfd1l UTSW 10 4,033,877 (GRCm39) critical splice donor site probably null
R1703:Mthfd1l UTSW 10 4,098,093 (GRCm39) missense probably damaging 1.00
R1888:Mthfd1l UTSW 10 4,056,528 (GRCm39) missense probably damaging 1.00
R1888:Mthfd1l UTSW 10 4,056,528 (GRCm39) missense probably damaging 1.00
R1891:Mthfd1l UTSW 10 3,982,284 (GRCm39) nonsense probably null
R2014:Mthfd1l UTSW 10 3,997,894 (GRCm39) missense probably benign
R2061:Mthfd1l UTSW 10 4,053,288 (GRCm39) missense probably benign 0.00
R2197:Mthfd1l UTSW 10 3,978,399 (GRCm39) missense probably damaging 1.00
R2360:Mthfd1l UTSW 10 4,006,771 (GRCm39) missense probably damaging 1.00
R3085:Mthfd1l UTSW 10 4,040,007 (GRCm39) missense probably benign 0.00
R3176:Mthfd1l UTSW 10 4,098,025 (GRCm39) missense probably damaging 1.00
R3276:Mthfd1l UTSW 10 4,098,025 (GRCm39) missense probably damaging 1.00
R4065:Mthfd1l UTSW 10 3,982,242 (GRCm39) missense probably damaging 1.00
R4612:Mthfd1l UTSW 10 3,980,717 (GRCm39) missense probably damaging 1.00
R4803:Mthfd1l UTSW 10 3,957,840 (GRCm39) missense possibly damaging 0.52
R4883:Mthfd1l UTSW 10 3,957,775 (GRCm39) missense probably benign 0.11
R4932:Mthfd1l UTSW 10 3,930,241 (GRCm39) missense probably benign 0.00
R5507:Mthfd1l UTSW 10 4,056,432 (GRCm39) missense probably benign 0.20
R5687:Mthfd1l UTSW 10 3,940,002 (GRCm39) splice site probably null
R5694:Mthfd1l UTSW 10 3,985,239 (GRCm39) missense possibly damaging 0.90
R5727:Mthfd1l UTSW 10 4,053,302 (GRCm39) missense possibly damaging 0.86
R5908:Mthfd1l UTSW 10 4,039,392 (GRCm39) missense probably damaging 1.00
R5951:Mthfd1l UTSW 10 3,998,222 (GRCm39) missense probably damaging 1.00
R6330:Mthfd1l UTSW 10 3,930,234 (GRCm39) missense probably benign
R6583:Mthfd1l UTSW 10 3,997,937 (GRCm39) missense probably damaging 0.96
R6846:Mthfd1l UTSW 10 3,997,898 (GRCm39) missense probably damaging 1.00
R7105:Mthfd1l UTSW 10 4,053,261 (GRCm39) missense probably benign
R7456:Mthfd1l UTSW 10 4,039,998 (GRCm39) missense probably damaging 1.00
R7848:Mthfd1l UTSW 10 4,033,739 (GRCm39) missense possibly damaging 0.81
R8003:Mthfd1l UTSW 10 3,934,147 (GRCm39) missense probably benign 0.00
R8073:Mthfd1l UTSW 10 3,923,417 (GRCm39) missense probably benign 0.28
R8140:Mthfd1l UTSW 10 3,957,745 (GRCm39) nonsense probably null
R8478:Mthfd1l UTSW 10 4,098,064 (GRCm39) missense probably damaging 1.00
R8677:Mthfd1l UTSW 10 3,998,250 (GRCm39) missense possibly damaging 0.58
R8943:Mthfd1l UTSW 10 3,978,466 (GRCm39) missense probably damaging 1.00
R9086:Mthfd1l UTSW 10 3,923,412 (GRCm39) missense probably benign 0.22
R9267:Mthfd1l UTSW 10 3,934,154 (GRCm39) missense probably benign
R9371:Mthfd1l UTSW 10 4,053,335 (GRCm39) missense possibly damaging 0.49
X0003:Mthfd1l UTSW 10 4,039,303 (GRCm39) missense probably damaging 0.99
Z1088:Mthfd1l UTSW 10 3,957,844 (GRCm39) missense probably benign 0.00
Posted On 2013-06-28