Incidental Mutation 'IGL02429:Mthfd1l'
ID 293048
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 # IGL02429
Quality Score
Status
Chromosome 10
Chromosomal Location 3923118-4117081 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4039334 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 782 (K782E)
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: K782E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000036178
Gene: ENSMUSG00000040675
AA Change: K782E

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: K782E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000112870
Gene: ENSMUSG00000040675
AA Change: K782E

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: K782E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000112897
Gene: ENSMUSG00000040675
AA Change: K782E

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
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acmsd A T 1: 127,687,453 (GRCm39) D245V probably damaging Het
Adamts16 G A 13: 70,935,289 (GRCm39) probably benign Het
Arhgap36 A G X: 48,583,583 (GRCm39) D77G possibly damaging Het
Asap1 A T 15: 64,039,589 (GRCm39) M187K probably damaging Het
Aspm T C 1: 139,407,548 (GRCm39) V2145A probably benign Het
Ccn6 T C 10: 39,030,989 (GRCm39) N178S probably benign Het
Cd46 T C 1: 194,767,732 (GRCm39) T110A probably benign Het
Chl1 T A 6: 103,641,770 (GRCm39) probably benign Het
Clca3b A G 3: 144,533,896 (GRCm39) L493S probably damaging Het
Col11a2 C T 17: 34,261,266 (GRCm39) T72M probably damaging Het
Cyfip1 T A 7: 55,521,730 (GRCm39) probably benign Het
Frmd4b T C 6: 97,302,390 (GRCm39) probably benign Het
Glyr1 A G 16: 4,837,240 (GRCm39) M397T probably benign Het
Golm2 A G 2: 121,742,468 (GRCm39) T306A probably benign Het
Gtf2a1l G T 17: 88,976,141 (GRCm39) M1I probably null Het
Hdac4 A G 1: 91,940,417 (GRCm39) L154P probably benign Het
Ints8 A T 4: 11,231,720 (GRCm39) C422S probably damaging Het
Kng2 T A 16: 22,830,829 (GRCm39) K160I probably damaging Het
Lrrc23 C A 6: 124,755,130 (GRCm39) A136S probably damaging Het
Ltf T C 9: 110,855,193 (GRCm39) I402T possibly damaging Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Mfsd4a T C 1: 131,956,237 (GRCm39) H509R probably benign Het
Mvb12b G A 2: 33,717,800 (GRCm39) R114W probably damaging Het
Myh4 A T 11: 67,149,808 (GRCm39) K1818* probably null Het
Myo1h C T 5: 114,497,799 (GRCm39) probably benign Het
Ncapd3 T A 9: 27,000,598 (GRCm39) S1402T probably benign Het
Nutm2 A G 13: 50,623,516 (GRCm39) N71S probably benign Het
Oas1c C A 5: 120,940,133 (GRCm39) M344I probably benign Het
Or10g7 T A 9: 39,905,138 (GRCm39) F11I probably benign Het
Phldb1 A G 9: 44,612,247 (GRCm39) L1019P probably damaging Het
Plxnc1 T C 10: 94,718,453 (GRCm39) E494G probably benign Het
Pole T C 5: 110,447,666 (GRCm39) I734T probably benign Het
Ppp1r3b T C 8: 35,851,769 (GRCm39) S203P probably benign Het
Pth2r G T 1: 65,385,998 (GRCm39) M240I probably benign Het
Ptprr T A 10: 116,109,672 (GRCm39) F394I probably damaging Het
Rabgef1 T C 5: 130,239,329 (GRCm39) S265P possibly damaging Het
Rbpjl A G 2: 164,255,815 (GRCm39) D353G possibly damaging Het
Rfc3 A G 5: 151,574,596 (GRCm39) Y8H probably benign Het
Rph3a A T 5: 121,118,187 (GRCm39) probably null Het
Runx1t1 A T 4: 13,865,294 (GRCm39) probably benign Het
Slc37a1 T A 17: 31,519,483 (GRCm39) probably null Het
Slc38a10 T C 11: 120,025,714 (GRCm39) probably benign Het
Slc38a6 T C 12: 73,397,342 (GRCm39) V328A probably benign Het
Slf2 T C 19: 44,930,167 (GRCm39) S415P probably benign Het
Spata17 C A 1: 186,872,631 (GRCm39) R60L possibly damaging Het
Svil T A 18: 5,118,369 (GRCm39) D2237E probably benign Het
Swap70 T A 7: 109,863,179 (GRCm39) N169K probably benign Het
Tnfrsf11a A G 1: 105,755,443 (GRCm39) D505G probably benign Het
Traf1 A G 2: 34,839,115 (GRCm39) V70A probably benign Het
Traf3 T A 12: 111,209,899 (GRCm39) V165E probably benign Het
Trpc5 T C X: 143,194,795 (GRCm39) E570G probably damaging Het
Ubash3a A G 17: 31,460,279 (GRCm39) N601S probably benign Het
Vmn2r30 C T 7: 7,337,243 (GRCm39) C131Y possibly damaging Het
Vmn2r43 T C 7: 8,258,551 (GRCm39) I221V probably benign Het
Vmn2r97 T A 17: 19,150,596 (GRCm39) V481E possibly 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
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 2015-04-16