Incidental Mutation 'R7851:Rft1'
ID 606952
Institutional Source Beutler Lab
Gene Symbol Rft1
Ensembl Gene ENSMUSG00000052395
Gene Name RFT1 homolog
Synonyms
MMRRC Submission 045904-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7851 (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 30412540 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 534 (S534P)
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: S534P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000064153
Gene: ENSMUSG00000052395
AA Change: S534P

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (62/62)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 T A 11: 101,300,838 (GRCm39) probably null Het
Abcc3 A T 11: 94,250,486 (GRCm39) L905* probably null Het
Adamts9 T G 6: 92,885,687 (GRCm39) D401A probably damaging Het
Ankmy1 T C 1: 92,799,444 (GRCm39) K918E probably damaging Het
Arfgef3 T C 10: 18,468,034 (GRCm39) N1722S probably damaging Het
Arhgef18 A G 8: 3,498,409 (GRCm39) I481V possibly damaging Het
Asxl3 T C 18: 22,650,279 (GRCm39) I756T possibly damaging Het
Atp6v0b A G 4: 117,743,062 (GRCm39) F49S probably damaging Het
Baz2b C A 2: 59,767,060 (GRCm39) E107D probably damaging Het
Calcoco2 GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC 11: 95,990,808 (GRCm39) probably benign Het
Cd2ap A G 17: 43,135,363 (GRCm39) probably null Het
Cnn3 T A 3: 121,250,992 (GRCm39) Y304N possibly damaging Het
Cnot2 G A 10: 116,373,337 (GRCm39) S22L possibly damaging Het
Coq6 A T 12: 84,418,929 (GRCm39) H311L possibly damaging Het
Csf2rb2 T C 15: 78,173,137 (GRCm39) N350S probably benign Het
Dhrs9 T A 2: 69,231,600 (GRCm39) N253K probably benign Het
Dok7 T A 5: 35,214,280 (GRCm39) M1K probably null Het
Eogt T A 6: 97,097,162 (GRCm39) E313D probably benign Het
Etl4 T C 2: 20,748,951 (GRCm39) S430P probably damaging Het
Gfod2 T A 8: 106,454,762 (GRCm39) E39D probably benign Het
Gfral T C 9: 76,112,737 (GRCm39) N65D probably benign Het
Gsdmc4 A T 15: 63,774,595 (GRCm39) L62* probably null Het
Gyg1 T G 3: 20,176,911 (GRCm39) M360L probably benign Het
Hsp90ab1 A T 17: 45,881,378 (GRCm39) S255T probably benign Het
Hyal6 T A 6: 24,734,497 (GRCm39) D143E probably benign Het
Ipp C T 4: 116,372,672 (GRCm39) Q234* probably null Het
Ism1 A T 2: 139,599,185 (GRCm39) D386V probably damaging Het
Jrkl T C 9: 13,244,354 (GRCm39) T436A probably benign Het
Mup3 A C 4: 62,003,494 (GRCm39) I125S possibly damaging Het
Myh6 T A 14: 55,190,508 (GRCm39) E1003V possibly damaging Het
Neb T A 2: 52,043,076 (GRCm39) I6785F probably benign Het
Odad4 C T 11: 100,436,655 (GRCm39) T10I probably damaging Het
Or11g24 A G 14: 50,662,827 (GRCm39) T284A probably damaging Het
Or11h4b A G 14: 50,918,915 (GRCm39) Y59H probably damaging Het
Or1j4 T A 2: 36,740,428 (GRCm39) Y123* probably null Het
Or2w25 T C 11: 59,504,789 (GRCm39) V333A probably benign Het
Or6c5c G T 10: 129,299,429 (GRCm39) V295L probably benign Het
Pamr1 A T 2: 102,416,945 (GRCm39) T86S probably benign Het
Pced1a A T 2: 130,264,236 (GRCm39) M168K probably damaging Het
Pigs T C 11: 78,227,613 (GRCm39) L259P probably damaging Het
Plch1 T C 3: 63,605,855 (GRCm39) S1350G probably damaging Het
Prickle1 G A 15: 93,398,440 (GRCm39) T796I possibly damaging Het
Ptcd3 T C 6: 71,879,843 (GRCm39) I138M probably damaging Het
Ptprs T C 17: 56,732,482 (GRCm39) E958G probably benign Het
Rcn3 A T 7: 44,736,236 (GRCm39) D157E probably benign Het
Ryr3 T C 2: 112,508,862 (GRCm39) T3371A probably benign Het
Scn10a A T 9: 119,446,828 (GRCm39) V1399D probably damaging Het
Sec61a1 T C 6: 88,489,147 (GRCm39) T185A probably benign Het
Sgsm3 G A 15: 80,894,954 (GRCm39) V607M probably damaging Het
Smurf2 T C 11: 106,721,752 (GRCm39) Y581C probably damaging Het
Snx8 C A 5: 140,343,914 (GRCm39) V101L probably damaging Het
Sp100 A T 1: 85,634,647 (GRCm39) K180M probably benign Het
Spire2 T A 8: 124,083,438 (GRCm39) probably null Het
St6galnac2 A G 11: 116,576,764 (GRCm39) S86P probably benign Het
Sybu G A 15: 44,609,852 (GRCm39) Q139* probably null Het
Tas2r114 T A 6: 131,666,888 (GRCm39) I47F probably damaging Het
Tcf21 T C 10: 22,695,747 (GRCm39) D19G probably benign Het
Terb2 T C 2: 122,016,794 (GRCm39) F9L probably damaging Het
Tlr1 T C 5: 65,082,307 (GRCm39) T757A possibly damaging Het
Tmco1 C T 1: 167,136,255 (GRCm39) probably benign Het
Tshz3 T C 7: 36,471,014 (GRCm39) F1001S probably damaging Het
Vmn2r62 G A 7: 42,438,539 (GRCm39) T99I probably benign Het
Wdr7 A T 18: 63,853,398 (GRCm39) T33S 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
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
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
Predicted Primers PCR Primer
(F):5'- GCAGGATGATAGATAACTTCTTTCCC -3'
(R):5'- GAAAAGGCGCTCCTGCTTTG -3'

Sequencing Primer
(F):5'- GATAGATAACTTCTTTCCCTGGCTTG -3'
(R):5'- CCTGCTTTGGTGGGAAGCC -3'
Posted On 2019-12-20