Incidental Mutation 'R6583:Mthfd1l'
ID 524243
Institutional Source Beutler Lab
Gene Symbol Mthfd1l
Ensembl Gene ENSMUSG00000040675
Gene Name methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
Synonyms 2410004L15Rik, Fthfsdc1
MMRRC Submission 044707-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6583 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 3923118-4117081 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3997937 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 636 (D636G)
Ref Sequence ENSEMBL: ENSMUSP00000112897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043735] [ENSMUST00000117291] [ENSMUST00000120585]
AlphaFold Q3V3R1
Predicted Effect probably damaging
Transcript: ENSMUST00000043735
AA Change: D636G

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000036178
Gene: ENSMUSG00000040675
AA Change: D636G

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 damaging
Transcript: ENSMUST00000117291
AA Change: D636G

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000112870
Gene: ENSMUSG00000040675
AA Change: D636G

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 damaging
Transcript: ENSMUST00000120585
AA Change: D636G

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000112897
Gene: ENSMUSG00000040675
AA Change: D636G

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
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.4%
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank2 A C 3: 126,810,613 (GRCm39) I491S probably damaging Het
Armc12 A T 17: 28,757,588 (GRCm39) Q240L probably null Het
Cntnap5c C T 17: 58,637,272 (GRCm39) P1050S probably damaging Het
Col4a3 C A 1: 82,619,197 (GRCm39) A42E unknown Het
D630003M21Rik A G 2: 158,062,436 (GRCm39) V28A probably damaging Het
Dbf4 A G 5: 8,448,143 (GRCm39) S355P probably damaging Het
Dnah6 A G 6: 73,150,516 (GRCm39) V749A probably benign Het
Exoc4 T C 6: 33,792,688 (GRCm39) L606P probably damaging Het
Fggy T C 4: 95,489,210 (GRCm39) S109P probably benign Het
Gdf7 T A 12: 8,351,758 (GRCm39) Q59L unknown Het
M6pr T C 6: 122,290,349 (GRCm39) V104A probably damaging Het
Macf1 A T 4: 123,364,739 (GRCm39) probably null Het
Micu2 T C 14: 58,181,127 (GRCm39) K169R probably damaging Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Nfib T G 4: 82,416,708 (GRCm39) D125A probably damaging Het
Nuf2 T C 1: 169,332,117 (GRCm39) T393A probably benign Het
Or8b49 G A 9: 38,506,260 (GRCm39) V248I possibly damaging Het
Paox T A 7: 139,706,291 (GRCm39) N70K probably damaging Het
Pnma8b A G 7: 16,679,844 (GRCm39) N276S probably damaging Het
Ralgds G A 2: 28,423,656 (GRCm39) A32T probably damaging Het
Samd11 T A 4: 156,332,591 (GRCm39) N446I possibly damaging Het
Soat1 T C 1: 156,294,062 (GRCm39) probably null Het
Tmem87a A T 2: 120,205,958 (GRCm39) V339E possibly damaging Het
Tmprss13 G T 9: 45,256,603 (GRCm39) C516F probably damaging Het
Vmn2r69 T C 7: 85,059,017 (GRCm39) T515A probably benign Het
Xrcc5 T C 1: 72,351,752 (GRCm39) probably null Het
Ywhaz T C 15: 36,791,166 (GRCm39) Y19C probably damaging Het
Zfp964 G T 8: 70,115,633 (GRCm39) D78Y 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
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
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
Predicted Primers PCR Primer
(F):5'- GTGTCTCTAGGAAAGCCACTG -3'
(R):5'- ACGCCCCTGGAATTGTTATC -3'

Sequencing Primer
(F):5'- CCAACTATGACTGCTGGAAGTGTC -3'
(R):5'- GGAATTGTTATCTTTGCCCATGTC -3'
Posted On 2018-06-22