Incidental Mutation 'IGL02642:Mtr'
ID 301800
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtr
Ensembl Gene ENSMUSG00000021311
Gene Name 5-methyltetrahydrofolate-homocysteine methyltransferase
Synonyms methionine synthase, D830038K18Rik, MS
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02642
Quality Score
Status
Chromosome 13
Chromosomal Location 12197598-12272999 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 12210118 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000097442 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099856]
AlphaFold A6H5Y3
Predicted Effect probably benign
Transcript: ENSMUST00000099856
SMART Domains Protein: ENSMUSP00000097442
Gene: ENSMUSG00000021311

DomainStartEndE-ValueType
Pfam:S-methyl_trans 18 326 1.5e-93 PFAM
Pfam:Pterin_bind 363 601 4.6e-63 PFAM
B12-binding_2 657 743 6.42e-41 SMART
Pfam:B12-binding 761 861 3.3e-20 PFAM
Pfam:Met_synt_B12 953 1234 2.5e-114 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220473
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221190
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit embryonic lethality prior to E9.5. Heterozygous appear mostly similar to conrtols, except that they exhibit elevated plasma methionine and homocysteine levels. [provided by MGI curators]
Allele List at MGI

All alleles(6) : Targeted, knock-out(1) Gene trapped(5)

Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm T C 3: 153,644,720 (GRCm39) D68G probably damaging Het
Amer3 A G 1: 34,625,761 (GRCm39) probably benign Het
Ankrd11 A G 8: 123,617,390 (GRCm39) L2133P probably damaging Het
Bcdin3d G T 15: 99,368,673 (GRCm39) H175Q probably damaging Het
Brd8 C A 18: 34,741,117 (GRCm39) probably benign Het
C1rl C A 6: 124,470,806 (GRCm39) T38N possibly damaging Het
Cd160 T C 3: 96,707,927 (GRCm39) T140A probably benign Het
Cdk16 T G X: 20,563,167 (GRCm39) D381E probably benign Het
Cpq G A 15: 33,381,546 (GRCm39) G303D probably damaging Het
Dmp1 T C 5: 104,359,536 (GRCm39) S71P probably damaging Het
Enc1 A C 13: 97,382,042 (GRCm39) D184A possibly damaging Het
Enkur T C 2: 21,199,198 (GRCm39) D112G probably benign Het
Esrra A T 19: 6,890,218 (GRCm39) V59E possibly damaging Het
F830016B08Rik A G 18: 60,433,058 (GRCm39) N47S probably benign Het
Fads1 T A 19: 10,163,785 (GRCm39) V189D probably damaging Het
Fam167a T A 14: 63,689,721 (GRCm39) I6N probably damaging Het
Fam98b A G 2: 117,090,793 (GRCm39) T164A probably benign Het
Fhip2a A G 19: 57,373,782 (GRCm39) N681D possibly damaging Het
Fryl T A 5: 73,252,809 (GRCm39) I953L probably benign Het
Gm10610 T A 7: 83,198,813 (GRCm39) noncoding transcript Het
Grik5 G T 7: 24,758,408 (GRCm39) N338K possibly damaging Het
Gstt2 A G 10: 75,668,652 (GRCm39) I72T probably benign Het
Gusb T C 5: 130,029,376 (GRCm39) probably null Het
Hccs A G X: 168,098,588 (GRCm39) probably benign Het
Hoxb4 A G 11: 96,211,050 (GRCm39) K217E probably damaging Het
Hpd C T 5: 123,319,503 (GRCm39) V22I possibly damaging Het
Ighv1-47 A G 12: 114,954,844 (GRCm39) Y79H probably damaging Het
Il7r C A 15: 9,513,133 (GRCm39) probably benign Het
Lama1 A T 17: 68,119,361 (GRCm39) M2613L probably benign Het
Lama2 G A 10: 27,343,269 (GRCm39) H68Y probably damaging Het
Lce1c C A 3: 92,587,845 (GRCm39) probably benign Het
Lmx1a G T 1: 167,672,192 (GRCm39) probably benign Het
Lrfn1 T C 7: 28,158,113 (GRCm39) probably benign Het
Lrriq1 T A 10: 103,057,322 (GRCm39) probably null Het
Mri1 A T 8: 84,983,702 (GRCm39) L63Q probably damaging Het
Mrps11 G T 7: 78,438,522 (GRCm39) probably null Het
Mtif2 C A 11: 29,494,395 (GRCm39) Q666K probably benign Het
Mug1 A G 6: 121,859,544 (GRCm39) N1181S probably benign Het
Myom1 A T 17: 71,408,093 (GRCm39) E1209V possibly damaging Het
Nhsl1 A G 10: 18,284,138 (GRCm39) I26M possibly damaging Het
Nlrp1a T A 11: 71,014,358 (GRCm39) K297N probably benign Het
Obox5 T C 7: 15,491,972 (GRCm39) V129A probably benign Het
Pex16 C T 2: 92,206,981 (GRCm39) A53V probably damaging Het
Pfpl T C 19: 12,407,107 (GRCm39) F453L probably damaging Het
Pip5k1b G T 19: 24,323,731 (GRCm39) H406N probably benign Het
Pip5k1c C A 10: 81,153,155 (GRCm39) probably null Het
Plcxd3 T C 15: 4,546,122 (GRCm39) F42S possibly damaging Het
Pnpla7 T C 2: 24,940,288 (GRCm39) F1056L probably benign Het
Rapgef1 T C 2: 29,590,872 (GRCm39) probably benign Het
Rdh11 G A 12: 79,232,110 (GRCm39) probably benign Het
Serac1 A G 17: 6,096,021 (GRCm39) F576S possibly damaging Het
Slc45a4 A T 15: 73,458,664 (GRCm39) M295K probably benign Het
Taf1c T C 8: 120,325,796 (GRCm39) T689A probably benign Het
Timm10b G T 7: 105,317,645 (GRCm39) probably benign Het
Tle5 A T 10: 81,397,126 (GRCm39) Q34L possibly damaging Het
Tnc A T 4: 63,883,816 (GRCm39) probably benign Het
Toporsl T C 4: 52,611,114 (GRCm39) W336R probably benign Het
Usp54 C A 14: 20,615,140 (GRCm39) probably benign Het
Vmn1r233 T C 17: 21,214,291 (GRCm39) R220G probably damaging Het
Other mutations in Mtr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01299:Mtr APN 13 12,240,536 (GRCm39) splice site probably benign
IGL02456:Mtr APN 13 12,213,980 (GRCm39) missense probably damaging 0.98
IGL02573:Mtr APN 13 12,214,013 (GRCm39) missense possibly damaging 0.95
IGL03005:Mtr APN 13 12,250,335 (GRCm39) splice site probably benign
IGL03017:Mtr APN 13 12,262,777 (GRCm39) critical splice donor site probably null
IGL03036:Mtr APN 13 12,262,263 (GRCm39) missense probably damaging 1.00
H8930:Mtr UTSW 13 12,250,346 (GRCm39) missense probably damaging 1.00
PIT4431001:Mtr UTSW 13 12,227,329 (GRCm39) missense probably damaging 1.00
PIT4520001:Mtr UTSW 13 12,212,871 (GRCm39) nonsense probably null
R0011:Mtr UTSW 13 12,252,938 (GRCm39) splice site probably benign
R0047:Mtr UTSW 13 12,237,112 (GRCm39) missense probably damaging 1.00
R0047:Mtr UTSW 13 12,237,112 (GRCm39) missense probably damaging 1.00
R0304:Mtr UTSW 13 12,237,040 (GRCm39) critical splice donor site probably null
R0617:Mtr UTSW 13 12,236,318 (GRCm39) missense probably benign
R0842:Mtr UTSW 13 12,215,133 (GRCm39) missense probably damaging 1.00
R1101:Mtr UTSW 13 12,204,411 (GRCm39) missense possibly damaging 0.84
R1450:Mtr UTSW 13 12,208,619 (GRCm39) missense probably damaging 0.99
R1534:Mtr UTSW 13 12,250,430 (GRCm39) splice site probably benign
R1907:Mtr UTSW 13 12,240,418 (GRCm39) missense probably damaging 1.00
R2111:Mtr UTSW 13 12,259,487 (GRCm39) missense possibly damaging 0.86
R2354:Mtr UTSW 13 12,203,043 (GRCm39) splice site probably benign
R3849:Mtr UTSW 13 12,262,251 (GRCm39) missense probably benign 0.16
R3899:Mtr UTSW 13 12,231,735 (GRCm39) missense probably benign 0.00
R4012:Mtr UTSW 13 12,204,284 (GRCm39) missense probably damaging 1.00
R4012:Mtr UTSW 13 12,204,283 (GRCm39) missense probably damaging 1.00
R4075:Mtr UTSW 13 12,230,298 (GRCm39) critical splice donor site probably null
R4091:Mtr UTSW 13 12,245,943 (GRCm39) missense probably damaging 1.00
R4655:Mtr UTSW 13 12,242,679 (GRCm39) missense probably damaging 1.00
R4801:Mtr UTSW 13 12,210,137 (GRCm39) missense probably benign 0.01
R4802:Mtr UTSW 13 12,210,137 (GRCm39) missense probably benign 0.01
R4895:Mtr UTSW 13 12,231,752 (GRCm39) missense probably benign 0.01
R5481:Mtr UTSW 13 12,203,041 (GRCm39) critical splice acceptor site probably null
R5966:Mtr UTSW 13 12,230,453 (GRCm39) critical splice acceptor site probably null
R6209:Mtr UTSW 13 12,205,278 (GRCm39) missense probably benign 0.00
R6348:Mtr UTSW 13 12,262,840 (GRCm39) missense possibly damaging 0.49
R6463:Mtr UTSW 13 12,231,752 (GRCm39) missense probably benign 0.01
R6467:Mtr UTSW 13 12,202,992 (GRCm39) missense probably damaging 1.00
R7046:Mtr UTSW 13 12,205,095 (GRCm39) missense possibly damaging 0.58
R7505:Mtr UTSW 13 12,236,362 (GRCm39) missense probably benign 0.02
R7575:Mtr UTSW 13 12,213,963 (GRCm39) missense probably benign 0.01
R7705:Mtr UTSW 13 12,264,782 (GRCm39) missense probably benign
R7748:Mtr UTSW 13 12,242,725 (GRCm39) missense probably benign 0.00
R8161:Mtr UTSW 13 12,236,372 (GRCm39) missense probably damaging 0.99
R8290:Mtr UTSW 13 12,205,139 (GRCm39) missense probably damaging 1.00
R8988:Mtr UTSW 13 12,250,365 (GRCm39) missense probably benign
R9050:Mtr UTSW 13 12,231,748 (GRCm39) missense probably null 0.67
R9420:Mtr UTSW 13 12,268,764 (GRCm39) missense probably benign 0.04
R9655:Mtr UTSW 13 12,203,030 (GRCm39) missense probably damaging 1.00
X0064:Mtr UTSW 13 12,265,543 (GRCm39) missense probably damaging 1.00
Z1177:Mtr UTSW 13 12,264,752 (GRCm39) nonsense probably null
Z1177:Mtr UTSW 13 12,201,935 (GRCm39) missense probably benign 0.32
Posted On 2015-04-16