Incidental Mutation 'IGL03215:Mthfd1l'
ID 413453
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 # IGL03215
Quality Score
Status
Chromosome 10
Chromosomal Location 3923118-4117081 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 3991826 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 593 (T593S)
Ref Sequence ENSEMBL: ENSMUSP00000112897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043735] [ENSMUST00000117291] [ENSMUST00000120585]
AlphaFold Q3V3R1
Predicted Effect probably benign
Transcript: ENSMUST00000043735
AA Change: T593S

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000036178
Gene: ENSMUSG00000040675
AA Change: T593S

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
AA Change: T593S

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000112870
Gene: ENSMUSG00000040675
AA Change: T593S

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
AA Change: T593S

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000112897
Gene: ENSMUSG00000040675
AA Change: T593S

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd3 C T 1: 180,572,670 (GRCm39) A310V possibly damaging Het
Acmsd C A 1: 127,685,750 (GRCm39) S197* probably null Het
Adgrg4 A T X: 56,022,956 (GRCm39) N2761I probably damaging Het
Amy1 G A 3: 113,349,649 (GRCm39) A507V probably benign Het
Apob T C 12: 8,063,818 (GRCm39) F316S possibly damaging Het
Arhgap10 T C 8: 78,003,781 (GRCm39) T675A probably benign Het
Bbx A G 16: 50,022,935 (GRCm39) I675T probably damaging Het
Cep126 C A 9: 8,100,531 (GRCm39) E668* probably null Het
Cnga2 A G X: 71,052,772 (GRCm39) D549G probably damaging Het
Dnah1 T A 14: 30,996,348 (GRCm39) I2663F probably damaging Het
Fmo5 A G 3: 97,549,122 (GRCm39) M257V probably benign Het
Galntl6 T C 8: 59,364,436 (GRCm39) I25V probably benign Het
Il17ra A G 6: 120,449,075 (GRCm39) N54S probably damaging Het
Or10ag2 G A 2: 87,248,412 (GRCm39) V7I probably benign Het
Or1e30 G T 11: 73,678,211 (GRCm39) W149L probably damaging Het
Or5ar1 A T 2: 85,671,725 (GRCm39) S137T probably damaging Het
Or5h25 A T 16: 58,930,325 (GRCm39) V216D possibly damaging Het
Rnasel T A 1: 153,634,301 (GRCm39) L578Q probably damaging Het
Serpinb1a A G 13: 33,034,352 (GRCm39) L13S probably damaging Het
Slf1 G A 13: 77,198,096 (GRCm39) P726L probably benign Het
Spta1 T C 1: 174,046,309 (GRCm39) M1630T probably damaging Het
Stk16 T C 1: 75,189,236 (GRCm39) probably benign Het
Tnxb T C 17: 34,911,499 (GRCm39) F1724L possibly damaging Het
Vmn1r58 T C 7: 5,413,835 (GRCm39) I132V probably benign Het
Zbtb41 T C 1: 139,374,688 (GRCm39) I716T 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 3,982,345 (GRCm39) splice site probably benign
IGL01018:Mthfd1l APN 10 3,928,708 (GRCm39) missense probably benign
IGL01018:Mthfd1l APN 10 3,957,800 (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
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 2016-08-02