Incidental Mutation 'IGL01970:Rft1'
ID 182520
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rft1
Ensembl Gene ENSMUSG00000052395
Gene Name RFT1 homolog
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01970
Quality Score
Status
Chromosome 14
Chromosomal Location 30376317-30413274 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 30412492 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 518 (L518F)
Ref Sequence ENSEMBL: ENSMUSP00000064153 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064230] [ENSMUST00000226817] [ENSMUST00000228686]
AlphaFold Q8C3B8
Predicted Effect probably benign
Transcript: ENSMUST00000064230
AA Change: L518F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000064153
Gene: ENSMUSG00000052395
AA Change: L518F

DomainStartEndE-ValueType
Pfam:Rft-1 9 530 2.2e-140 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141379
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226805
Predicted Effect probably benign
Transcript: ENSMUST00000226817
Predicted Effect probably benign
Transcript: ENSMUST00000228686
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 an enzyme which catalyzes the translocation of the Man(5)GlcNAc (2)-PP-Dol intermediate from the cytoplasmic to the luminal side of the endoplasmic reticulum membrane in the pathway for the N-glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type In.[provided by RefSeq, Dec 2008]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cdk9 T C 2: 32,598,063 (GRCm39) H280R possibly damaging Het
Cenpt C T 8: 106,571,748 (GRCm39) R461H probably damaging Het
Cpa4 A G 6: 30,579,645 (GRCm39) T151A probably benign Het
Glrb A G 3: 80,769,232 (GRCm39) I165T possibly damaging Het
Gm17305 A T 11: 69,255,646 (GRCm39) probably benign Het
Kdm5b T A 1: 134,528,465 (GRCm39) S391T probably damaging Het
Klrg2 T C 6: 38,613,383 (GRCm39) K207E probably damaging Het
Krt1 T C 15: 101,755,299 (GRCm39) I487V possibly damaging Het
Krt27 A G 11: 99,239,547 (GRCm39) L311P probably damaging Het
Leng9 T C 7: 4,151,326 (GRCm39) Y450C probably damaging Het
Oacyl A T 18: 65,882,785 (GRCm39) I627F possibly damaging Het
Perm1 G T 4: 156,302,118 (GRCm39) G221W probably damaging Het
Sdk1 A T 5: 142,071,437 (GRCm39) Q1209L possibly damaging Het
Selenbp1 A G 3: 94,844,313 (GRCm39) S57G probably benign Het
Sema5a T C 15: 32,686,792 (GRCm39) M968T probably benign Het
Slc16a3 G A 11: 120,847,864 (GRCm39) V351M probably damaging Het
Sorbs2 G A 8: 46,198,840 (GRCm39) V73I probably damaging Het
Specc1l T A 10: 75,081,595 (GRCm39) D347E probably damaging Het
Tas2r116 A C 6: 132,832,632 (GRCm39) T78P probably benign Het
Tpm3 A G 3: 89,997,135 (GRCm39) E224G probably damaging Het
Trnau1ap T C 4: 132,041,298 (GRCm39) probably benign Het
Vmn2r17 T A 5: 109,575,813 (GRCm39) M228K probably damaging Het
Vnn1 T C 10: 23,773,300 (GRCm39) I109T probably benign Het
Wee1 C A 7: 109,738,457 (GRCm39) H523Q probably damaging Het
Xpr1 T C 1: 155,165,980 (GRCm39) N524S probably benign Het
Other mutations in Rft1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01625:Rft1 APN 14 30,398,853 (GRCm39) missense possibly damaging 0.71
IGL01642:Rft1 APN 14 30,398,825 (GRCm39) missense probably damaging 1.00
IGL01654:Rft1 APN 14 30,398,837 (GRCm39) missense probably damaging 0.99
IGL02403:Rft1 APN 14 30,382,278 (GRCm39) splice site probably benign
IGL02928:Rft1 APN 14 30,385,072 (GRCm39) missense possibly damaging 0.78
IGL03186:Rft1 APN 14 30,380,306 (GRCm39) missense possibly damaging 0.90
IGL03286:Rft1 APN 14 30,383,323 (GRCm39) missense probably benign 0.00
R0276:Rft1 UTSW 14 30,412,540 (GRCm39) missense probably benign 0.28
R0879:Rft1 UTSW 14 30,404,705 (GRCm39) splice site probably benign
R1491:Rft1 UTSW 14 30,388,744 (GRCm39) nonsense probably null
R2423:Rft1 UTSW 14 30,388,724 (GRCm39) missense possibly damaging 0.49
R3693:Rft1 UTSW 14 30,412,408 (GRCm39) missense probably damaging 1.00
R4543:Rft1 UTSW 14 30,383,290 (GRCm39) missense probably benign 0.24
R4611:Rft1 UTSW 14 30,411,747 (GRCm39) missense probably damaging 0.98
R4878:Rft1 UTSW 14 30,399,761 (GRCm39) missense probably benign 0.04
R5256:Rft1 UTSW 14 30,383,243 (GRCm39) missense probably benign 0.03
R5382:Rft1 UTSW 14 30,388,739 (GRCm39) missense probably benign 0.04
R5719:Rft1 UTSW 14 30,385,183 (GRCm39) intron probably benign
R7200:Rft1 UTSW 14 30,404,814 (GRCm39) critical splice donor site probably null
R7652:Rft1 UTSW 14 30,399,773 (GRCm39) missense probably benign 0.15
R7657:Rft1 UTSW 14 30,388,724 (GRCm39) missense probably damaging 1.00
R7851:Rft1 UTSW 14 30,412,540 (GRCm39) missense probably benign 0.00
R8341:Rft1 UTSW 14 30,411,838 (GRCm39) missense probably damaging 1.00
R8777:Rft1 UTSW 14 30,382,156 (GRCm39) missense probably damaging 1.00
R8777-TAIL:Rft1 UTSW 14 30,382,156 (GRCm39) missense probably damaging 1.00
R9288:Rft1 UTSW 14 30,383,415 (GRCm39) nonsense probably null
R9301:Rft1 UTSW 14 30,398,812 (GRCm39) missense probably damaging 1.00
R9427:Rft1 UTSW 14 30,411,781 (GRCm39) missense probably damaging 1.00
R9656:Rft1 UTSW 14 30,404,714 (GRCm39) missense probably benign 0.00
Posted On 2014-05-07