Incidental Mutation 'R9288:Rft1'
ID 704111
Institutional Source Beutler Lab
Gene Symbol Rft1
Ensembl Gene ENSMUSG00000052395
Gene Name RFT1 homolog
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9288 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 30376317-30413274 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 30383415 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 152 (K152*)
Ref Sequence ENSEMBL: ENSMUSP00000064153 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064230] [ENSMUST00000226817] [ENSMUST00000228686]
AlphaFold Q8C3B8
Predicted Effect probably null
Transcript: ENSMUST00000064230
AA Change: K152*
SMART Domains Protein: ENSMUSP00000064153
Gene: ENSMUSG00000052395
AA Change: K152*

DomainStartEndE-ValueType
Pfam:Rft-1 9 530 2.2e-140 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000226817
AA Change: K152*
Predicted Effect probably null
Transcript: ENSMUST00000228686
AA Change: K152*
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (60/61)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik T C 11: 109,704,444 (GRCm39) D66G probably benign Het
Acot7 T A 4: 152,291,263 (GRCm39) H76Q probably damaging Het
Acsf2 C T 11: 94,464,044 (GRCm39) V47M probably benign Het
Agmat T C 4: 141,474,391 (GRCm39) S91P probably damaging Het
Apba1 A G 19: 23,923,145 (GRCm39) *843W probably null Het
Apcdd1 C T 18: 63,055,731 (GRCm39) probably benign Het
Asz1 A G 6: 18,051,368 (GRCm39) I437T possibly damaging Het
Bbs12 C T 3: 37,374,712 (GRCm39) L387F probably damaging Het
BC028528 T C 3: 95,799,227 (GRCm39) I6V probably benign Het
C6 A C 15: 4,835,532 (GRCm39) K770T Het
Cacna1g T A 11: 94,308,897 (GRCm39) K1669* probably null Het
Chst13 G A 6: 90,286,506 (GRCm39) P152L probably damaging Het
Cit C T 5: 116,123,512 (GRCm39) T1436I probably damaging Het
Col14a1 T A 15: 55,286,918 (GRCm39) V913E unknown Het
Dlgap4 G T 2: 156,546,514 (GRCm39) R394L possibly damaging Het
Eml6 T G 11: 29,788,641 (GRCm39) probably null Het
Epb41l2 A G 10: 25,355,653 (GRCm39) T486A possibly damaging Het
Fbln5 A T 12: 101,734,728 (GRCm39) C181* probably null Het
Flnb A C 14: 7,904,498 (GRCm38) D967A probably benign Het
Glyatl3 A G 17: 41,221,016 (GRCm39) V117A probably benign Het
Gm4553 GCAGCCCCCACAGGAACTACAACCACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGA GCAGCCCCCACAGGA 7: 141,719,025 (GRCm39) probably benign Het
Gpa33 G A 1: 165,980,304 (GRCm39) M122I probably benign Het
Gtf2ird2 A G 5: 134,221,571 (GRCm39) E58G possibly damaging Het
Hdlbp T C 1: 93,336,773 (GRCm39) E1125G probably benign Het
Hook1 C T 4: 95,901,505 (GRCm39) R488C probably damaging Het
Isx G T 8: 75,619,439 (GRCm39) A197S probably benign Het
Klhl10 G T 11: 100,347,719 (GRCm39) A592S probably benign Het
Kmt2c A T 5: 25,497,907 (GRCm39) D3949E probably damaging Het
Kmt2c A T 5: 25,554,860 (GRCm39) I1258K probably benign Het
Lpin3 C A 2: 160,745,552 (GRCm39) N618K probably damaging Het
Lrrc9 T A 12: 72,522,858 (GRCm39) D701E probably benign Het
Mex3a T A 3: 88,443,458 (GRCm39) M178K possibly damaging Het
Mex3b T C 7: 82,518,159 (GRCm39) V158A probably benign Het
Myh7 A T 14: 55,222,932 (GRCm39) F758I probably benign Het
Neb T G 2: 52,051,403 (GRCm39) N6626H probably damaging Het
Nkd2 G T 13: 73,995,177 (GRCm39) probably benign Het
Nsmaf T C 4: 6,414,976 (GRCm39) K630R probably benign Het
Obscn A T 11: 58,976,049 (GRCm39) F2026Y probably benign Het
Olr1 T C 6: 129,470,202 (GRCm39) probably benign Het
Osbpl1a A G 18: 12,904,402 (GRCm39) L589P probably damaging Het
Pcsk5 T C 19: 17,814,345 (GRCm39) K58E probably benign Het
Poll T C 19: 45,547,281 (GRCm39) I64V probably benign Het
Prdm10 A G 9: 31,252,674 (GRCm39) E469G possibly damaging Het
Ptprb T A 10: 116,155,353 (GRCm39) N415K probably benign Het
Qrich2 GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG 11: 116,348,367 (GRCm39) probably benign Het
Rnf180 CGAGG CGAGGAGG 13: 105,386,781 (GRCm39) probably benign Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,119 (GRCm39) probably benign Het
Sfpq T C 4: 126,916,627 (GRCm39) S275P probably damaging Het
Slit1 A T 19: 41,613,144 (GRCm39) probably benign Het
Sorl1 A G 9: 41,952,927 (GRCm39) F705L probably damaging Het
Spata17 A G 1: 186,844,756 (GRCm39) V281A possibly damaging Het
Sulf1 G A 1: 12,856,827 (GRCm39) R26Q probably benign Het
Tbc1d4 T C 14: 101,692,308 (GRCm39) Y1052C probably damaging Het
Tgfbr2 T C 9: 115,939,149 (GRCm39) D251G probably benign Het
Tmem88b A T 4: 155,868,733 (GRCm39) W172R probably damaging Het
Vdac2 C A 14: 21,881,962 (GRCm39) P7T probably benign Het
Vmn2r112 A G 17: 22,822,323 (GRCm39) K334E probably damaging Het
Vmn2r8 A T 5: 108,950,185 (GRCm39) S221T probably benign Het
Zfp608 G T 18: 55,033,341 (GRCm39) N397K 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
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
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'- TCCCACTGGGTATATTTTGGTC -3'
(R):5'- TCTGTAGAACAGCACAGATCTG -3'

Sequencing Primer
(F):5'- CACTGGGTATATTTTGGTCCTCCTG -3'
(R):5'- ATATGGTGGCTCACAACTGTC -3'
Posted On 2022-03-25