Incidental Mutation 'IGL01642:Rft1'
ID 93676
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 # IGL01642
Quality Score
Status
Chromosome 14
Chromosomal Location 30376317-30413274 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 30398825 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 265 (T265I)
Ref Sequence ENSEMBL: ENSMUSP00000154587 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064230] [ENSMUST00000226817] [ENSMUST00000228686]
AlphaFold Q8C3B8
Predicted Effect possibly damaging
Transcript: ENSMUST00000064230
AA Change: T265I

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000064153
Gene: ENSMUSG00000052395
AA Change: T265I

DomainStartEndE-ValueType
Pfam:Rft-1 9 530 2.2e-140 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000131097
AA Change: T265I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120407
Gene: ENSMUSG00000052395
AA Change: T265I

DomainStartEndE-ValueType
Pfam:Rft-1 10 279 4.1e-36 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000155689
AA Change: T265I

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000122990
Gene: ENSMUSG00000052395
AA Change: T265I

DomainStartEndE-ValueType
Pfam:Rft-1 10 378 1.2e-67 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000226817
AA Change: T265I

PolyPhen 2 Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect probably damaging
Transcript: ENSMUST00000228686
AA Change: T265I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aanat A G 11: 116,486,514 (GRCm39) T18A possibly damaging Het
Abat A T 16: 8,418,783 (GRCm39) I126F possibly damaging Het
Adcy6 G A 15: 98,492,390 (GRCm39) A958V possibly damaging Het
Ago2 T C 15: 72,995,239 (GRCm39) I447V probably benign Het
Arid1a A G 4: 133,409,155 (GRCm39) V1784A unknown Het
Atp1b1 A G 1: 164,285,330 (GRCm39) F33L probably benign Het
Bpnt1 G A 1: 185,086,238 (GRCm39) V198I probably benign Het
Cemip2 T A 19: 21,801,265 (GRCm39) I794N probably damaging Het
Cfap251 T C 5: 123,426,761 (GRCm39) V383A possibly damaging Het
Cgas G A 9: 78,344,680 (GRCm39) P247L probably damaging Het
Clip3 G A 7: 29,998,287 (GRCm39) M244I probably benign Het
Clip3 A T 7: 29,996,494 (GRCm39) probably benign Het
Cyp2a22 A T 7: 26,638,184 (GRCm39) N107K possibly damaging Het
Cyp2c23 A T 19: 43,993,995 (GRCm39) L457Q probably damaging Het
Dbr1 A G 9: 99,458,031 (GRCm39) Y17C probably damaging Het
Drc7 G A 8: 95,785,767 (GRCm39) V208I probably benign Het
Dst T A 1: 34,228,470 (GRCm39) L2021Q probably damaging Het
E2f4 C A 8: 106,027,968 (GRCm39) P299T probably damaging Het
Eef1b2 T C 1: 63,216,990 (GRCm39) L53P probably damaging Het
Enpp3 T C 10: 24,674,167 (GRCm39) T378A probably damaging Het
Eps15 A G 4: 109,223,670 (GRCm39) N302S probably benign Het
Esrrg G A 1: 187,943,112 (GRCm39) V362M probably benign Het
Gcc2 T A 10: 58,116,434 (GRCm39) N1014K probably benign Het
Gm3099 T A 14: 15,346,476 (GRCm39) M114K possibly damaging Het
Gnptab C T 10: 88,271,994 (GRCm39) T928I possibly damaging Het
Gpd2 A T 2: 57,158,083 (GRCm39) R31* probably null Het
Impdh1 T C 6: 29,207,165 (GRCm39) T60A possibly damaging Het
Kcnab3 A G 11: 69,221,256 (GRCm39) E191G probably benign Het
Kcnh5 A G 12: 75,011,943 (GRCm39) S659P probably damaging Het
Kl T C 5: 150,904,334 (GRCm39) I362T possibly damaging Het
Kpna4 A G 3: 68,993,117 (GRCm39) V414A probably damaging Het
Magi1 G A 6: 93,663,605 (GRCm39) P1111S possibly damaging Het
Myo18a A G 11: 77,755,558 (GRCm39) D1965G probably benign Het
Nadsyn1 G A 7: 143,351,615 (GRCm39) P673S probably damaging Het
Naip2 A G 13: 100,297,445 (GRCm39) S864P probably damaging Het
Or10ak16 A G 4: 118,750,658 (GRCm39) Y126C probably damaging Het
Or2d2b A T 7: 106,706,029 (GRCm39) I13N possibly damaging Het
Or2f1 G T 6: 42,721,486 (GRCm39) V172L probably benign Het
Paics T A 5: 77,109,357 (GRCm39) probably benign Het
Papss1 G T 3: 131,288,996 (GRCm39) probably benign Het
Pax3 A G 1: 78,173,300 (GRCm39) probably null Het
Pgbd5 T G 8: 125,110,941 (GRCm39) Q159P probably benign Het
Pkd1 A G 17: 24,800,266 (GRCm39) Y3009C probably damaging Het
Pla2g4d T C 2: 120,111,117 (GRCm39) T161A probably damaging Het
Podxl2 T A 6: 88,820,529 (GRCm39) Y521F probably damaging Het
Pramel34 A G 5: 93,784,154 (GRCm39) Y437H possibly damaging Het
Prmt2 C T 10: 76,058,327 (GRCm39) G161S probably damaging Het
Rims2 T A 15: 39,321,192 (GRCm39) L736M probably damaging Het
Slf1 C T 13: 77,198,034 (GRCm39) A747T probably benign Het
Snx2 A G 18: 53,349,519 (GRCm39) K427E probably damaging Het
Tmem131l A T 3: 83,845,357 (GRCm39) D424E possibly damaging Het
Tnxb A G 17: 34,937,488 (GRCm39) T3826A probably damaging Het
Tpp2 T C 1: 43,993,813 (GRCm39) Y233H probably damaging Het
Ubl4b C A 3: 107,462,147 (GRCm39) E38* probably null Het
Usp5 A T 6: 124,797,416 (GRCm39) I486N probably damaging Het
Vmn1r193 A C 13: 22,403,794 (GRCm39) L66R probably damaging Het
Vps13b T C 15: 35,792,218 (GRCm39) I2162T probably benign Het
Wipf2 T C 11: 98,781,650 (GRCm39) V63A probably benign Het
Zfp735 G T 11: 73,601,305 (GRCm39) C83F possibly damaging Het
Zfyve26 T C 12: 79,308,348 (GRCm39) probably null Het
Other mutations in Rft1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01625:Rft1 APN 14 30,398,853 (GRCm39) missense possibly damaging 0.71
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
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 2013-12-09