Incidental Mutation 'IGL01659:Dhfr'
ID103111
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dhfr
Ensembl Gene ENSMUSG00000021707
Gene Namedihydrofolate reductase
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01659
Quality Score
Status
Chromosome13
Chromosomal Location92354726-92389053 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to T at 92355670 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022218] [ENSMUST00000022220] [ENSMUST00000185852] [ENSMUST00000187424] [ENSMUST00000187874] [ENSMUST00000190393] [ENSMUST00000191509] [ENSMUST00000191550]
Predicted Effect possibly damaging
Transcript: ENSMUST00000022218
AA Change: Q36L

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000022218
Gene: ENSMUSG00000021707
AA Change: Q36L

DomainStartEndE-ValueType
Pfam:DHFR_1 4 185 3.9e-37 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000022220
SMART Domains Protein: ENSMUSP00000022220
Gene: ENSMUSG00000014850

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
low complexity region 24 40 N/A INTRINSIC
Pfam:MutS_I 188 301 1.6e-35 PFAM
Pfam:MutS_II 324 481 2.2e-36 PFAM
MUTSd 513 828 7.62e-97 SMART
MUTSac 847 1049 9.7e-122 SMART
Predicted Effect probably null
Transcript: ENSMUST00000185852
SMART Domains Protein: ENSMUSP00000140002
Gene: ENSMUSG00000014850

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
low complexity region 24 40 N/A INTRINSIC
Pfam:MutS_I 188 301 7.2e-35 PFAM
Pfam:MutS_II 324 481 2.2e-36 PFAM
MUTSd 513 828 7.62e-97 SMART
MUTSac 847 1049 9.7e-122 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186878
Predicted Effect probably null
Transcript: ENSMUST00000187424
SMART Domains Protein: ENSMUSP00000139622
Gene: ENSMUSG00000014850

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
low complexity region 24 40 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187831
Predicted Effect probably benign
Transcript: ENSMUST00000187874
SMART Domains Protein: ENSMUSP00000139620
Gene: ENSMUSG00000014850

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
low complexity region 24 40 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000190393
SMART Domains Protein: ENSMUSP00000141163
Gene: ENSMUSG00000014850

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
low complexity region 24 40 N/A INTRINSIC
Pfam:MutS_I 188 241 6.4e-10 PFAM
low complexity region 261 285 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000191509
SMART Domains Protein: ENSMUSP00000141158
Gene: ENSMUSG00000014850

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
low complexity region 24 40 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000191550
SMART Domains Protein: ENSMUSP00000140659
Gene: ENSMUSG00000014850

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
low complexity region 24 40 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dihydrofolate reductase converts dihydrofolate into tetrahydrofolate, a methyl group shuttle required for the de novo synthesis of purines, thymidylic acid, and certain amino acids. While the functional dihydrofolate reductase gene has been mapped to chromosome 5, multiple intronless processed pseudogenes or dihydrofolate reductase-like genes have been identified on separate chromosomes. Dihydrofolate reductase deficiency has been linked to megaloblastic anemia. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality soon after E14.5 with reduced size, pallor, impaired hematopoiesis and abnormal folic acid levels. Mice heterozygous for this allele exhibit abnormal folic acid levels, abnormal hemopoiesis and reduced endothelium-dependent vasorelaxation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 A T 8: 24,870,774 probably benign Het
Ankrd11 A G 8: 122,895,371 S581P probably damaging Het
Arl13b T C 16: 62,802,750 S370G possibly damaging Het
Cdr2 G T 7: 120,958,549 A251E probably damaging Het
Clec4a4 A T 6: 123,023,935 E202D probably damaging Het
Col14a1 T A 15: 55,446,172 probably benign Het
Flnc A G 6: 29,448,671 T1303A probably damaging Het
Mug1 A T 6: 121,870,660 probably benign Het
Napepld A G 5: 21,675,716 V227A probably damaging Het
Nf1 A G 11: 79,559,449 E487G probably benign Het
Nlrp2 A G 7: 5,328,035 L454P probably damaging Het
Olfr1049 A T 2: 86,255,185 C169* probably null Het
Rad51 T A 2: 119,118,702 I61K probably benign Het
Rfx8 A T 1: 39,670,573 H431Q probably damaging Het
Sspo A G 6: 48,474,443 N2725S probably damaging Het
Trim16 A G 11: 62,820,695 E64G probably benign Het
Zfp879 T C 11: 50,838,454 Y39C probably damaging Het
Other mutations in Dhfr
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0546:Dhfr UTSW 13 92368184 critical splice acceptor site probably null
R1465:Dhfr UTSW 13 92368307 splice site probably benign
R2026:Dhfr UTSW 13 92365771 nonsense probably null
R4905:Dhfr UTSW 13 92365774 missense probably damaging 1.00
R5109:Dhfr UTSW 13 92355280 missense probably damaging 1.00
R7039:Dhfr UTSW 13 92355283 missense probably benign 0.04
R7869:Dhfr UTSW 13 92357963 nonsense probably null
R7952:Dhfr UTSW 13 92357963 nonsense probably null
Posted On2014-01-21