Mutagenetix > Incidental Mutation

Incidental Mutation 'R9301:Rft1'

704969

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 #

R9301 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30376317-30413274 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 30398812 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 261 (R261W)

Ref Sequence

ENSEMBL: ENSMUSP00000064153 (fasta)

Gene Model

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

AlphaFold

Q8C3B8

Predicted Effect

probably damaging
Transcript: ENSMUST00000064230
AA Change: R261W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000064153
Gene: ENSMUSG00000052395
AA Change: R261W

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000226817
AA Change: R261W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000228686
AA Change: R261W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,881,128 (GRCm39)	N514K	probably benign	Het
Adss1	A	T	12: 112,602,882 (GRCm39)	R358W	probably damaging	Het
Anxa8	T	A	14: 33,819,932 (GRCm39)	I307N	probably damaging	Het
Atad5	T	A	11: 79,986,845 (GRCm39)	I644N	probably damaging	Het
Atp5f1a	G	T	18: 77,868,938 (GRCm39)	L437F	probably damaging	Het
Babam1	A	G	8: 71,855,684 (GRCm39)	K259R	possibly damaging	Het
BC048562	T	G	9: 108,323,054 (GRCm39)	F130V	probably damaging	Het
Btf3l4b	T	A	13: 96,217,621 (GRCm39)	K73*	probably null	Het
Camsap2	T	A	1: 136,202,640 (GRCm39)		probably null	Het
Ccne2	A	G	4: 11,192,881 (GRCm39)	I27M	probably benign	Het
Cd302	A	G	2: 60,082,793 (GRCm39)	V177A	possibly damaging	Het
Cfap46	T	C	7: 139,222,461 (GRCm39)	K1172R		Het
Cic	T	C	7: 24,991,117 (GRCm39)	W2141R	probably damaging	Het
Cpeb3	A	G	19: 37,151,473 (GRCm39)	V301A	possibly damaging	Het
Cpsf3	A	G	12: 21,350,112 (GRCm39)	K277R	possibly damaging	Het
Cstl1	A	G	2: 148,592,926 (GRCm39)	H27R	possibly damaging	Het
Dapk1	T	A	13: 60,866,125 (GRCm39)	I188K	possibly damaging	Het
Dock6	T	C	9: 21,729,111 (GRCm39)	T1301A	probably benign	Het
Eml5	A	T	12: 98,848,292 (GRCm39)	C133*	probably null	Het
Ermap	T	A	4: 119,042,744 (GRCm39)	I260F	probably damaging	Het
Fbxw22	T	G	9: 109,215,653 (GRCm39)	E198D	possibly damaging	Het
Flt4	T	C	11: 49,516,241 (GRCm39)	Y115H	possibly damaging	Het
Fmo9	A	C	1: 166,494,794 (GRCm39)	I369S	probably damaging	Het
Frmd4a	T	A	2: 4,157,904 (GRCm39)	S6T	probably benign	Het
Golga5	A	T	12: 102,443,057 (GRCm39)	I330L	probably benign	Het
Helq	C	A	5: 100,927,158 (GRCm39)	V643F	probably damaging	Het
Ino80d	A	T	1: 63,104,969 (GRCm39)	L369H	probably damaging	Het
Kank1	A	T	19: 25,388,798 (GRCm39)	M824L	probably benign	Het
Lilrb4b	T	C	10: 51,356,801 (GRCm39)		probably benign	Het
Ltbp4	T	A	7: 27,021,578 (GRCm39)	D1003V	probably damaging	Het
Mapk8ip2	T	C	15: 89,341,886 (GRCm39)	S366P	probably damaging	Het
Mdga1	T	C	17: 30,069,512 (GRCm39)	H178R	probably benign	Het
Mlh3	A	G	12: 85,292,613 (GRCm39)	V1266A	possibly damaging	Het
Nrp1	A	G	8: 129,089,859 (GRCm39)	E78G	probably damaging	Het
Or1l4	A	T	2: 37,091,255 (GRCm39)	M1L	probably benign	Het
Or4z4	A	T	19: 12,076,826 (GRCm39)	M59K	probably damaging	Het
Or5d16	A	G	2: 87,773,297 (GRCm39)	V225A	probably benign	Het
Or8k33	A	G	2: 86,383,818 (GRCm39)	S217P	possibly damaging	Het
Ovch2	A	G	7: 107,395,815 (GRCm39)	S68P	probably damaging	Het
Pappa2	T	A	1: 158,672,614 (GRCm39)	I1110F	probably damaging	Het
Pcyox1	A	C	6: 86,369,241 (GRCm39)	L195R	possibly damaging	Het
Pde11a	A	G	2: 75,848,217 (GRCm39)	L870P	probably damaging	Het
Pgpep1	G	A	8: 71,103,418 (GRCm39)	T152M	probably damaging	Het
Pik3c2a	A	T	7: 115,945,413 (GRCm39)	D1464E	probably damaging	Het
Plcb1	A	G	2: 135,167,610 (GRCm39)	K468R	possibly damaging	Het
Postn	C	T	3: 54,292,659 (GRCm39)	T742I	probably benign	Het
Ppm1j	T	A	3: 104,691,057 (GRCm39)	Y274N	probably damaging	Het
Ppp2cb	T	C	8: 34,090,038 (GRCm39)	C32R	possibly damaging	Het
Prmt9	T	A	8: 78,282,374 (GRCm39)	Y90*	probably null	Het
Ptk2	T	C	15: 73,146,346 (GRCm39)	Y441C	probably damaging	Het
Rabggta	T	A	14: 55,957,083 (GRCm39)	I266L	probably benign	Het
Rsrc1	C	T	3: 67,197,680 (GRCm39)	A195V	probably damaging	Het
Rtkn2	T	G	10: 67,871,677 (GRCm39)	L355R	possibly damaging	Het
Runx1t1	A	T	4: 13,875,477 (GRCm39)	D427V	possibly damaging	Het
Slc15a4	T	G	5: 127,673,812 (GRCm39)	H534P	probably benign	Het
Slc16a7	T	C	10: 125,066,880 (GRCm39)	N253S	probably damaging	Het
Slc29a1	A	G	17: 45,897,063 (GRCm39)	S408P	probably damaging	Het
Slc52a2	G	A	15: 76,424,406 (GRCm39)	A215T	probably damaging	Het
Smc1b	T	A	15: 85,011,995 (GRCm39)	I126L	probably damaging	Het
Sycp2	A	T	2: 178,023,650 (GRCm39)	N455K	probably benign	Het
Tbck	T	C	3: 132,543,738 (GRCm39)	V863A	probably benign	Het
Tfap2c	A	G	2: 172,395,347 (GRCm39)	M263V	probably benign	Het
Tmem45a	A	G	16: 56,627,134 (GRCm39)	V245A	probably damaging	Het
Top2a	C	T	11: 98,897,790 (GRCm39)	G759D	probably damaging	Het
Traf5	A	G	1: 191,729,489 (GRCm39)	S218P		Het
Tsfm	T	C	10: 126,866,502 (GRCm39)	R20G	probably benign	Het
Ugt2a2	G	T	5: 87,608,382 (GRCm39)	Q486K	probably damaging	Het
Usp34	T	A	11: 23,422,951 (GRCm39)	D3108E		Het
Wnt11	A	G	7: 98,495,796 (GRCm39)	Y100C	probably damaging	Het
Zbtb49	A	G	5: 38,370,931 (GRCm39)	C317R	probably benign	Het

Other mutations in Rft1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R9288:Rft1	UTSW	14	30,383,415 (GRCm39)	nonsense	probably null
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'- GCTTCTCTGAGAGTTTGTCAGC -3'
(R):5'- CAAAACGGGTCCCAGAGATCTG -3'

Sequencing Primer
(F):5'- CAGGAGGTTCTCAAGTTCAAGTC -3'
(R):5'- TCCCAGAGATCTGTAGGGAGC -3'

Posted On

2022-03-25