Incidental Mutation 'IGL01642:Rft1'
ID93676
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rft1
Ensembl Gene ENSMUSG00000052395
Gene NameRFT1 homolog
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01642
Quality Score
Status
Chromosome14
Chromosomal Location30654360-30691317 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 30676868 bp
ZygosityHeterozygous
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]
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: 116,595,688 T18A possibly damaging Het
Abat A T 16: 8,600,919 I126F possibly damaging Het
Adcy6 G A 15: 98,594,509 A958V possibly damaging Het
Ago2 T C 15: 73,123,390 I447V probably benign Het
Arid1a A G 4: 133,681,844 V1784A unknown Het
Atp1b1 A G 1: 164,457,761 F33L probably benign Het
Bpnt1 G A 1: 185,354,041 V198I probably benign Het
C87414 A G 5: 93,636,295 Y437H possibly damaging Het
Clip3 G A 7: 30,298,862 M244I probably benign Het
Clip3 A T 7: 30,297,069 probably benign Het
Cyp2a22 A T 7: 26,938,759 N107K possibly damaging Het
Cyp2c23 A T 19: 44,005,556 L457Q probably damaging Het
Dbr1 A G 9: 99,575,978 Y17C probably damaging Het
Drc7 G A 8: 95,059,139 V208I probably benign Het
Dst T A 1: 34,189,389 L2021Q probably damaging Het
E2f4 C A 8: 105,301,336 P299T probably damaging Het
Eef1b2 T C 1: 63,177,831 L53P probably damaging Het
Enpp3 T C 10: 24,798,269 T378A probably damaging Het
Eps15 A G 4: 109,366,473 N302S probably benign Het
Esrrg G A 1: 188,210,915 V362M probably benign Het
Gcc2 T A 10: 58,280,612 N1014K probably benign Het
Gm3099 T A 14: 4,000,508 M114K possibly damaging Het
Gnptab C T 10: 88,436,132 T928I possibly damaging Het
Gpd2 A T 2: 57,268,071 R31* probably null Het
Impdh1 T C 6: 29,207,166 T60A possibly damaging Het
Kcnab3 A G 11: 69,330,430 E191G probably benign Het
Kcnh5 A G 12: 74,965,169 S659P probably damaging Het
Kl T C 5: 150,980,869 I362T possibly damaging Het
Kpna4 A G 3: 69,085,784 V414A probably damaging Het
Magi1 G A 6: 93,686,624 P1111S possibly damaging Het
Mb21d1 G A 9: 78,437,398 P247L probably damaging Het
Myo18a A G 11: 77,864,732 D1965G probably benign Het
Nadsyn1 G A 7: 143,797,878 P673S probably damaging Het
Naip2 A G 13: 100,160,937 S864P probably damaging Het
Olfr1330 A G 4: 118,893,461 Y126C probably damaging Het
Olfr453 G T 6: 42,744,552 V172L probably benign Het
Olfr715b A T 7: 107,106,822 I13N possibly damaging Het
Paics T A 5: 76,961,510 probably benign Het
Papss1 G T 3: 131,583,235 probably benign Het
Pax3 A G 1: 78,196,663 probably null Het
Pgbd5 T G 8: 124,384,202 Q159P probably benign Het
Pkd1 A G 17: 24,581,292 Y3009C probably damaging Het
Pla2g4d T C 2: 120,280,636 T161A probably damaging Het
Podxl2 T A 6: 88,843,547 Y521F probably damaging Het
Prmt2 C T 10: 76,222,493 G161S probably damaging Het
Rims2 T A 15: 39,457,796 L736M probably damaging Het
Slf1 C T 13: 77,049,915 A747T probably benign Het
Snx2 A G 18: 53,216,447 K427E probably damaging Het
Tmem131l A T 3: 83,938,050 D424E possibly damaging Het
Tmem2 T A 19: 21,823,901 I794N probably damaging Het
Tnxb A G 17: 34,718,514 T3826A probably damaging Het
Tpp2 T C 1: 43,954,653 Y233H probably damaging Het
Ubl4b C A 3: 107,554,831 E38* probably null Het
Usp5 A T 6: 124,820,453 I486N probably damaging Het
Vmn1r193 A C 13: 22,219,624 L66R probably damaging Het
Vps13b T C 15: 35,792,072 I2162T probably benign Het
Wdr66 T C 5: 123,288,698 V383A possibly damaging Het
Wipf2 T C 11: 98,890,824 V63A probably benign Het
Zfp735 G T 11: 73,710,479 C83F possibly damaging Het
Zfyve26 T C 12: 79,261,574 probably null Het
Other mutations in Rft1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01625:Rft1 APN 14 30676896 missense possibly damaging 0.71
IGL01654:Rft1 APN 14 30676880 missense probably damaging 0.99
IGL01970:Rft1 APN 14 30690535 missense probably benign
IGL02403:Rft1 APN 14 30660321 splice site probably benign
IGL02928:Rft1 APN 14 30663115 missense possibly damaging 0.78
IGL03186:Rft1 APN 14 30658349 missense possibly damaging 0.90
IGL03286:Rft1 APN 14 30661366 missense probably benign 0.00
R0276:Rft1 UTSW 14 30690583 missense probably benign 0.28
R0879:Rft1 UTSW 14 30682748 splice site probably benign
R1491:Rft1 UTSW 14 30666787 nonsense probably null
R2423:Rft1 UTSW 14 30666767 missense possibly damaging 0.49
R3693:Rft1 UTSW 14 30690451 missense probably damaging 1.00
R4543:Rft1 UTSW 14 30661333 missense probably benign 0.24
R4611:Rft1 UTSW 14 30689790 missense probably damaging 0.98
R4878:Rft1 UTSW 14 30677804 missense probably benign 0.04
R5256:Rft1 UTSW 14 30661286 missense probably benign 0.03
R5382:Rft1 UTSW 14 30666782 missense probably benign 0.04
R5719:Rft1 UTSW 14 30663226 intron probably benign
R7200:Rft1 UTSW 14 30682857 critical splice donor site probably null
Posted On2013-12-09