Incidental Mutation 'R5382:Rft1'
ID424806
Institutional Source Beutler Lab
Gene Symbol Rft1
Ensembl Gene ENSMUSG00000052395
Gene NameRFT1 homolog
Synonyms
MMRRC Submission 042957-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R5382 (G1)
Quality Score225
Status Validated
Chromosome14
Chromosomal Location30654360-30691317 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 30666782 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 221 (V221A)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064230] [ENSMUST00000226817] [ENSMUST00000228686]
Predicted Effect probably benign
Transcript: ENSMUST00000064230
AA Change: V221A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000064153
Gene: ENSMUSG00000052395
AA Change: V221A

DomainStartEndE-ValueType
Pfam:Rft-1 9 530 2.2e-140 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131097
AA Change: V221A

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000120407
Gene: ENSMUSG00000052395
AA Change: V221A

DomainStartEndE-ValueType
Pfam:Rft-1 10 279 4.1e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143534
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143923
Predicted Effect probably benign
Transcript: ENSMUST00000155689
AA Change: V221A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000122990
Gene: ENSMUSG00000052395
AA Change: V221A

DomainStartEndE-ValueType
Pfam:Rft-1 10 378 1.2e-67 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000226817
AA Change: V221A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227338
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228262
Predicted Effect probably benign
Transcript: ENSMUST00000228686
AA Change: V221A

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 100% (59/59)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810474O19Rik G T 6: 149,326,460 E335* probably null Het
Acp7 G A 7: 28,615,419 P250S possibly damaging Het
Actn2 T A 13: 12,308,951 M133L probably benign Het
AI314180 A T 4: 58,850,934 M413K probably benign Het
Arhgap32 A T 9: 32,152,010 K105M probably damaging Het
BC034090 A G 1: 155,225,603 V305A probably benign Het
Brd1 G A 15: 88,729,564 T376M probably damaging Het
Cbl C T 9: 44,159,021 A505T probably benign Het
Cga G T 4: 34,904,048 M14I probably benign Het
Cluh T C 11: 74,665,109 probably benign Het
Col14a1 A T 15: 55,362,436 D165V unknown Het
Cp T C 3: 19,978,925 W639R probably damaging Het
Cyp7b1 T A 3: 18,097,221 D276V possibly damaging Het
Dctd C T 8: 48,137,414 probably benign Het
Erc1 T A 6: 119,761,272 M509L probably benign Het
Evi5l A G 8: 4,178,653 probably benign Het
Exoc6 T C 19: 37,598,679 probably null Het
Gm38706 C T 6: 130,483,781 noncoding transcript Het
Gpr183 T C 14: 121,954,921 T63A possibly damaging Het
Gpr63 T A 4: 25,007,952 D225E probably benign Het
Grb14 T A 2: 64,914,734 K93N probably damaging Het
Igkv4-80 A C 6: 69,016,665 S81A probably benign Het
Kif28 C T 1: 179,700,282 G768D probably damaging Het
Krt79 A T 15: 101,931,440 D373E probably benign Het
Mro G A 18: 73,876,822 S187N probably benign Het
Ms4a14 G T 19: 11,303,057 D712E possibly damaging Het
Narfl A G 17: 25,776,920 probably benign Het
Ndufaf1 T C 2: 119,660,412 T56A possibly damaging Het
Nell2 A T 15: 95,229,210 D761E probably damaging Het
Numb A G 12: 83,808,205 F116L probably damaging Het
Olfr1016 T C 2: 85,800,148 N41D probably damaging Het
Olfr1065 A G 2: 86,445,316 L222P probably damaging Het
Olfr1219 A G 2: 89,074,735 Y119H probably damaging Het
Olfr235 A T 19: 12,268,409 M60L possibly damaging Het
Olfr410 T A 11: 74,334,980 M84L probably benign Het
Olfr798 T A 10: 129,626,007 D18V probably damaging Het
Otog A C 7: 46,249,004 N182T probably damaging Het
Otx1 C A 11: 21,997,037 A91S probably damaging Het
Padi6 A T 4: 140,731,210 V457E probably damaging Het
Pex16 G A 2: 92,377,530 R109H possibly damaging Het
Phactr1 T C 13: 43,135,219 probably benign Het
Phf20 G A 2: 156,267,497 E255K probably damaging Het
Pim1 A G 17: 29,491,483 probably benign Het
Prr23a2 T A 9: 98,857,176 Y196N probably damaging Het
Prune2 A T 19: 17,003,659 N60I probably damaging Het
Ptprb T A 10: 116,353,871 Y1812N probably damaging Het
Rab11fip4 A G 11: 79,690,715 Y512C possibly damaging Het
Tacr2 T C 10: 62,261,497 M252T probably damaging Het
Tgfbrap1 A G 1: 43,075,865 I25T probably benign Het
Th A G 7: 142,895,440 F191S probably damaging Het
Trim3 C A 7: 105,618,347 R275L probably benign Het
Trpm3 A G 19: 22,885,341 probably null Het
Wars A T 12: 108,882,780 D80E probably benign Het
Wdr90 T A 17: 25,845,598 Y1806F probably damaging Het
Zfp644 A T 5: 106,634,869 I1182N possibly damaging Het
Other mutations in Rft1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01625:Rft1 APN 14 30676896 missense possibly damaging 0.71
IGL01642:Rft1 APN 14 30676868 missense probably damaging 1.00
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
R5719:Rft1 UTSW 14 30663226 intron probably benign
R7200:Rft1 UTSW 14 30682857 critical splice donor site probably null
R7652:Rft1 UTSW 14 30677816 missense probably benign 0.15
R7657:Rft1 UTSW 14 30666767 missense probably damaging 1.00
R7851:Rft1 UTSW 14 30690583 missense probably benign 0.00
R8341:Rft1 UTSW 14 30689881 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GATAGTTCTGTTGTGATTATGCCCC -3'
(R):5'- ACGTGAAGGATTACAGAGCC -3'

Sequencing Primer
(F):5'- GTGATTATGCCCCTCTCAGAACAG -3'
(R):5'- GATTACAGAGCCCGGCAGTTTTTC -3'
Posted On2016-08-04