Incidental Mutation 'R8341:Rft1'
ID 644911
Institutional Source Beutler Lab
Gene Symbol Rft1
Ensembl Gene ENSMUSG00000052395
Gene Name RFT1 homolog
Synonyms
MMRRC Submission 067865-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8341 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 30376317-30413274 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30411838 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 462 (L462P)
Ref Sequence ENSEMBL: ENSMUSP00000064153 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064230] [ENSMUST00000226817] [ENSMUST00000228686]
AlphaFold Q8C3B8
Predicted Effect probably damaging
Transcript: ENSMUST00000064230
AA Change: L462P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064153
Gene: ENSMUSG00000052395
AA Change: L462P

DomainStartEndE-ValueType
Pfam:Rft-1 9 530 2.2e-140 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000226817
Predicted Effect probably benign
Transcript: ENSMUST00000228686
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (57/58)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,845,876 (GRCm39) I915F probably damaging Het
Adam11 C A 11: 102,667,362 (GRCm39) H641N probably damaging Het
Amfr A G 8: 94,725,806 (GRCm39) S192P probably damaging Het
Ano9 T A 7: 140,682,247 (GRCm39) N676I possibly damaging Het
Arfgef1 C T 1: 10,224,553 (GRCm39) V1428I probably benign Het
B3gnt9 C T 8: 105,980,497 (GRCm39) R297H probably benign Het
Bace2 C T 16: 97,158,108 (GRCm39) A36V possibly damaging Het
C1s1 C T 6: 124,508,115 (GRCm39) A625T probably damaging Het
Camkmt T C 17: 85,747,008 (GRCm39) L251P probably damaging Het
Ceacam15 C A 7: 16,405,928 (GRCm39) V208F probably benign Het
Clp1 T C 2: 84,554,117 (GRCm39) K351E probably damaging Het
Csmd3 T C 15: 47,561,547 (GRCm39) Y1343C Het
Cubn C A 2: 13,433,535 (GRCm39) G1125V probably damaging Het
Dpp4 C T 2: 62,178,234 (GRCm39) V633I probably benign Het
Eif2ak1 A T 5: 143,821,755 (GRCm39) D357V probably benign Het
Fez1 T C 9: 36,787,605 (GRCm39) M370T possibly damaging Het
Frk G A 10: 34,462,279 (GRCm39) E257K probably damaging Het
Gm7579 T A 7: 141,765,856 (GRCm39) C87* probably null Het
Henmt1 T C 3: 108,865,908 (GRCm39) V211A probably damaging Het
Hspg2 C G 4: 137,246,290 (GRCm39) P1023A possibly damaging Het
Ints9 T A 14: 65,273,863 (GRCm39) V556E probably benign Het
Itprid2 A T 2: 79,488,062 (GRCm39) K715I probably damaging Het
Klhl41 T C 2: 69,500,868 (GRCm39) S110P probably benign Het
Klrk1 T C 6: 129,599,663 (GRCm39) probably benign Het
Kmt2e A T 5: 23,704,451 (GRCm39) S1215C probably damaging Het
Lyn T C 4: 3,743,304 (GRCm39) probably null Het
Map2k5 T A 9: 63,246,380 (GRCm39) N116Y probably damaging Het
Map3k13 G T 16: 21,740,334 (GRCm39) E554* probably null Het
Map6 A G 7: 98,917,647 (GRCm39) E140G possibly damaging Het
Mpv17 A C 5: 31,311,447 (GRCm39) probably null Het
Myo1c C T 11: 75,562,253 (GRCm39) P883S probably benign Het
Myo7b T C 18: 32,116,979 (GRCm39) M914V probably benign Het
Olfm2 C T 9: 20,583,918 (GRCm39) probably null Het
Or2b4 G A 17: 38,116,543 (GRCm39) C169Y probably damaging Het
Osbpl7 T G 11: 96,950,989 (GRCm39) L612R probably damaging Het
Polq A T 16: 36,892,133 (GRCm39) M2012L possibly damaging Het
Ppp1r7 G A 1: 93,274,000 (GRCm39) D59N probably benign Het
Ppp4r3c2 A T X: 88,798,322 (GRCm39) K718M probably damaging Het
Ptbp1 A C 10: 79,699,045 (GRCm39) E534D probably benign Het
Qser1 A G 2: 104,619,820 (GRCm39) Y241H probably damaging Het
Rbx1 T C 15: 81,358,078 (GRCm39) L88P probably damaging Het
Serpinb9f T A 13: 33,511,290 (GRCm39) L77* probably null Het
Shisa9 T C 16: 11,815,015 (GRCm39) M221T possibly damaging Het
Slc12a2 T G 18: 58,012,281 (GRCm39) F135V possibly damaging Het
Slc23a1 C T 18: 35,755,588 (GRCm39) G436E probably damaging Het
Slc44a2 T C 9: 21,253,495 (GRCm39) F88L probably benign Het
Snx21 A G 2: 164,633,805 (GRCm39) E197G probably damaging Het
Srarp T C 4: 141,160,707 (GRCm39) D42G possibly damaging Het
St6galnac1 T A 11: 116,659,714 (GRCm39) M200L probably benign Het
Stambpl1 A T 19: 34,211,401 (GRCm39) Q154L probably benign Het
Szt2 G T 4: 118,250,033 (GRCm39) R492S possibly damaging Het
Thbs3 G A 3: 89,132,698 (GRCm39) R880Q probably benign Het
Tnks A T 8: 35,340,199 (GRCm39) L473H probably damaging Het
Ttc4 A G 4: 106,522,893 (GRCm39) S342P probably benign Het
Uckl1 T A 2: 181,211,512 (GRCm39) M463L probably benign Het
Unc80 T C 1: 66,688,192 (GRCm39) S2397P possibly damaging Het
Vmn2r73 T A 7: 85,507,128 (GRCm39) H728L probably benign Het
Vsig10l T C 7: 43,113,378 (GRCm39) V110A probably damaging Het
Zgrf1 T A 3: 127,354,564 (GRCm39) L61* probably null Het
Zswim5 A G 4: 116,843,989 (GRCm39) Y1009C probably damaging 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
IGL01970:Rft1 APN 14 30,412,492 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- CCCAGGTACAATTTCACCATGC -3'
(R):5'- AAGGACTACTCTGCAGGTCTG -3'

Sequencing Primer
(F):5'- GGTACAATTTCACCATGCTGGCAC -3'
(R):5'- GGAGGAGACACACACATGACC -3'
Posted On 2020-09-02