Mutagenetix > Incidental Mutations

Incidental Mutation 'R4878:Rft1'

375083

Institutional Source

Beutler Lab

Gene Symbol

Rft1

Ensembl Gene

ENSMUSG00000052395

Gene Name

RFT1 homolog

Synonyms

MMRRC Submission

042487-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4878 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30654360-30691317 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 30677804 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 315 (S315L)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064230] [ENSMUST00000226817] [ENSMUST00000228686]

AlphaFold

Q8C3B8

Predicted Effect

probably benign
Transcript: ENSMUST00000064230
AA Change: S315L

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000064153
Gene: ENSMUSG00000052395
AA Change: S315L

Domain	Start	End	E-Value	Type
Pfam:Rft-1	9	530	2.2e-140	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141379

Predicted Effect

probably benign
Transcript: ENSMUST00000155689
AA Change: S315L

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000122990
Gene: ENSMUSG00000052395
AA Change: S315L

Domain	Start	End	E-Value	Type
Pfam:Rft-1	10	378	1.2e-67	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226805

Predicted Effect

probably benign
Transcript: ENSMUST00000226817
AA Change: S315L

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000228686

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

96% (70/73)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	C	A	4: 144,613,845	H47N	possibly damaging	Het
Adgrg3	A	T	8: 95,035,086	N159I	possibly damaging	Het
Agrn	A	T	4: 156,170,845	L1449Q	probably damaging	Het
Anks6	C	T	4: 47,030,795	G601S	probably damaging	Het
Atg2a	A	T	19: 6,250,244	E694V	probably damaging	Het
Ccndbp1	T	A	2: 121,014,691	L363*	probably null	Het
Cdh16	A	T	8: 104,618,064	D478E	probably damaging	Het
Cep295	A	T	9: 15,334,956	W735R	probably benign	Het
Cnnm2	C	T	19: 46,859,083	P682S	probably benign	Het
Daam2	C	A	17: 49,460,710	R951L	probably damaging	Het
Dmxl1	T	A	18: 49,851,476	F180I	probably damaging	Het
Dnajc6	T	C	4: 101,599,034		probably benign	Het
Efemp2	A	T	19: 5,480,761		probably benign	Het
Emilin1	A	G	5: 30,917,066	D217G	probably benign	Het
Enpep	A	T	3: 129,276,771	M829K	probably benign	Het
Epb41l4a	A	G	18: 33,798,572	V623A	probably damaging	Het
Erlin2	T	A	8: 27,027,166		probably null	Het
Fbln2	T	C	6: 91,256,995		probably null	Het
Gga3	A	T	11: 115,591,321	I157N	probably damaging	Het
Gm884	A	G	11: 103,617,891		probably benign	Het
Gtpbp6	C	T	5: 110,107,311		probably benign	Het
Hps4	T	C	5: 112,375,368	V584A	probably benign	Het
Ighv1-50	T	C	12: 115,119,947	Y51C	probably benign	Het
Kif13b	T	C	14: 64,806,154	L1801P	probably benign	Het
Kif16b	T	C	2: 142,848,003	I330V	probably damaging	Het
Klb	A	T	5: 65,348,490	R27W	probably damaging	Het
Lrif1	A	T	3: 106,735,640	K169M	probably damaging	Het
Met	A	G	6: 17,549,059	D970G	probably damaging	Het
Mical3	A	T	6: 120,969,387	M1051K	possibly damaging	Het
Mios	A	G	6: 8,215,094	N97D	probably benign	Het
Msh5	G	A	17: 35,038,456	R321C	probably damaging	Het
Mybpc1	T	C	10: 88,551,430	Q473R	possibly damaging	Het
Ncoa1	C	T	12: 4,275,004	G970D	probably damaging	Het
Neb	T	C	2: 52,219,394	Y232C	probably damaging	Het
Nefh	A	G	11: 4,941,333	S429P	probably damaging	Het
Notch3	C	T	17: 32,147,085	G1014D	probably damaging	Het
Nup107	A	T	10: 117,751,418	C859S	probably benign	Het
Olfr1033	A	G	2: 86,041,455	I47V	probably benign	Het
Olfr136	T	G	17: 38,335,627	F157V	probably benign	Het
Olfr412	T	C	11: 74,364,848	Y60H	probably damaging	Het
Otud7b	T	A	3: 96,136,510		probably benign	Het
Pde1a	A	T	2: 79,878,139	S312T	probably benign	Het
Piwil1	G	T	5: 128,740,981	R94L	probably damaging	Het
Pnma2	G	A	14: 66,917,054	W309*	probably null	Het
Ppef2	A	C	5: 92,228,740		probably null	Het
Rabac1	T	A	7: 24,969,967	Q212L	possibly damaging	Het
Rad51	T	C	2: 119,120,492		probably benign	Het
Rbm48	A	T	5: 3,591,853		probably benign	Het
Rgs13	C	T	1: 144,171,479	M1I	probably null	Het
Rhbg	A	C	3: 88,247,453	S215A	probably benign	Het
Rufy2	A	T	10: 63,002,211	N379I	probably damaging	Het
Slc17a1	T	C	13: 23,880,654	L367P	probably damaging	Het
Slc25a39	G	A	11: 102,403,675	R308C	probably benign	Het
Smo	A	G	6: 29,753,571	T149A	probably benign	Het
Sqle	A	G	15: 59,316,085	K81E	probably benign	Het
Tfpi	A	G	2: 84,452,555		probably null	Het
Tnk2	A	G	16: 32,679,630	D572G	probably damaging	Het
Ubr5	A	T	15: 38,006,564	M1149K	probably benign	Het
Utrn	T	A	10: 12,727,758	Q626L	probably damaging	Het
Virma	T	A	4: 11,544,971	H1643Q	probably damaging	Het
Wnt3	G	T	11: 103,808,205	G46C	possibly damaging	Het
Zkscan7	G	T	9: 122,890,800	G184*	probably null	Het

Other mutations in Rft1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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
R8777:Rft1	UTSW	14	30660199	missense	probably damaging	1.00
R8777-TAIL:Rft1	UTSW	14	30660199	missense	probably damaging	1.00
R9288:Rft1	UTSW	14	30661458	nonsense	probably null
R9301:Rft1	UTSW	14	30676855	missense	probably damaging	1.00
R9427:Rft1	UTSW	14	30689824	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCACATGTGAAGGTACAGG -3'
(R):5'- TCACCTAGGAGGACAAAGGCTG -3'

Sequencing Primer
(F):5'- ACAATTTACAACCTTGGCTGGGG -3'
(R):5'- GGCTGAAATACAAAGGACTGC -3'

Posted On

2016-03-17