Mutagenetix > Incidental Mutation

Incidental Mutation 'R7657:Rft1'

591298

Institutional Source

Beutler Lab

Gene Symbol

Rft1

Ensembl Gene

ENSMUSG00000052395

Gene Name

RFT1 homolog

Synonyms

MMRRC Submission

045733-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7657 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30376317-30413274 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30388724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 216 (L216H)

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: L216H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000064153
Gene: ENSMUSG00000052395
AA Change: L216H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000226817
AA Change: L216H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000228686
AA Change: L216H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.1650

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (80/80)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310033P09Rik	A	G	11: 59,099,337 (GRCm39)	E28G	possibly damaging	Het
Acot6	G	A	12: 84,153,304 (GRCm39)	G182D	possibly damaging	Het
Actl9	A	G	17: 33,652,014 (GRCm39)	T25A	probably benign	Het
Adam26b	G	A	8: 43,974,579 (GRCm39)	T141I	possibly damaging	Het
Agl	T	C	3: 116,572,812 (GRCm39)	H148R		Het
Angptl1	A	G	1: 156,684,790 (GRCm39)	I320V	probably benign	Het
Arhgef10	C	T	8: 15,029,893 (GRCm39)	R932C	probably damaging	Het
Atp13a2	A	G	4: 140,719,815 (GRCm39)	E91G	possibly damaging	Het
Bptf	T	A	11: 106,965,555 (GRCm39)	E1213V	probably damaging	Het
C530025M09Rik	A	G	2: 149,672,541 (GRCm39)	V198A	unknown	Het
Casd1	A	T	6: 4,619,773 (GRCm39)	I173F	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Col1a2	A	T	6: 4,527,152 (GRCm39)	K627M	probably null	Het
Ctcfl	G	A	2: 172,955,449 (GRCm39)	T271I	possibly damaging	Het
Dctn2	T	C	10: 127,102,383 (GRCm39)	Y6H	probably damaging	Het
Denr	T	C	5: 124,046,263 (GRCm39)	V31A	probably damaging	Het
Entpd7	T	C	19: 43,713,906 (GRCm39)	F422L	possibly damaging	Het
Fastkd5	G	C	2: 130,458,176 (GRCm39)	P138R	probably benign	Het
Fmn1	G	T	2: 113,355,538 (GRCm39)	A758S	unknown	Het
Fmo2	A	G	1: 162,716,413 (GRCm39)	V58A	probably damaging	Het
Fmo6	A	G	1: 162,750,285 (GRCm39)	I257T	probably benign	Het
Foxn1	T	C	11: 78,256,790 (GRCm39)	T302A	probably benign	Het
Ganab	C	T	19: 8,884,721 (GRCm39)	L175F	probably damaging	Het
Gga1	A	T	15: 78,773,327 (GRCm39)		probably null	Het
Gjd3	G	T	11: 98,873,586 (GRCm39)	S86*	probably null	Het
Gm1330	A	G	2: 148,841,154 (GRCm39)		probably null	Het
Gm18596	A	C	10: 77,577,947 (GRCm39)	S176A	unknown	Het
Gnl2	A	G	4: 124,923,951 (GRCm39)	S10G	probably benign	Het
Gpsm2	G	A	3: 108,608,061 (GRCm39)	A239V	probably damaging	Het
Grik2	T	C	10: 49,659,247 (GRCm39)	R37G	probably benign	Het
Grm3	A	G	5: 9,561,452 (GRCm39)		probably null	Het
Gtpbp3	T	C	8: 71,943,765 (GRCm39)	L216P	probably benign	Het
Hhla1	T	C	15: 65,837,308 (GRCm39)	T99A	probably damaging	Het
Igtp	A	T	11: 58,097,654 (GRCm39)	Q275L	probably benign	Het
Itga6	G	A	2: 71,676,595 (GRCm39)	A993T	probably benign	Het
Jakmip3	T	A	7: 138,620,903 (GRCm39)	I234N	probably damaging	Het
Kcnh7	A	G	2: 62,566,379 (GRCm39)	F851L	probably damaging	Het
Krr1	A	G	10: 111,811,504 (GRCm39)	Y66C	probably damaging	Het
Krt33a	T	A	11: 99,906,693 (GRCm39)	Q94L	probably benign	Het
Mat1a	A	T	14: 40,844,476 (GRCm39)	K369*	probably null	Het
Mbd1	T	G	18: 74,407,804 (GRCm39)	L277R	probably damaging	Het
Mmp21	C	T	7: 133,280,562 (GRCm39)	G136D	probably benign	Het
Mroh3	A	G	1: 136,109,532 (GRCm39)	Y892H	possibly damaging	Het
Ncbp3	G	A	11: 72,964,193 (GRCm39)	R381Q	probably damaging	Het
Nlrp2	T	A	7: 5,322,167 (GRCm39)	I827L	probably benign	Het
Nrip1	T	A	16: 76,091,587 (GRCm39)		probably null	Het
Or2ak4	A	T	11: 58,648,755 (GRCm39)	D88V	probably benign	Het
Or4f6	A	G	2: 111,839,093 (GRCm39)	V146A	probably benign	Het
Or5w13	C	T	2: 87,523,336 (GRCm39)	V297I	probably damaging	Het
Oxt	C	T	2: 130,418,710 (GRCm39)	P107L	possibly damaging	Het
Pcdhga2	G	A	18: 37,803,481 (GRCm39)	V442M	probably damaging	Het
Phtf1	T	G	3: 103,876,429 (GRCm39)	S10A	probably benign	Het
Plb1	A	C	5: 32,487,211 (GRCm39)	N902T	probably damaging	Het
Plppr3	T	C	10: 79,702,272 (GRCm39)	I267V	probably benign	Het
Pms2	C	A	5: 143,856,357 (GRCm39)	H278Q	possibly damaging	Het
Pmvk	T	A	3: 89,376,158 (GRCm39)	S154T	possibly damaging	Het
Polr3b	T	A	10: 84,491,855 (GRCm39)	M338K	probably damaging	Het
Ppp1r21	T	A	17: 88,863,110 (GRCm39)	I283N	probably damaging	Het
Ptprj	A	T	2: 90,282,501 (GRCm39)		probably null	Het
Rpl3	G	A	15: 79,965,258 (GRCm39)	P174S	probably benign	Het
Rtl1	T	C	12: 109,561,818 (GRCm39)	D7G	possibly damaging	Het
Slc13a2	A	G	11: 78,289,223 (GRCm39)	V496A	probably damaging	Het
Slc14a1	A	G	18: 78,156,879 (GRCm39)		probably null	Het
Slc8a3	T	C	12: 81,361,158 (GRCm39)	R554G	probably damaging	Het
Spata31d1b	T	C	13: 59,863,577 (GRCm39)	S242P	possibly damaging	Het
Spocd1	G	A	4: 129,823,535 (GRCm39)	V111I		Het
Stxbp5l	G	A	16: 37,030,534 (GRCm39)	A479V	probably null	Het
Tasor2	A	G	13: 3,623,777 (GRCm39)	S2058P	probably damaging	Het
Tmem238	C	G	7: 4,792,226 (GRCm39)	G106R	probably damaging	Het
Trak1	T	G	9: 121,301,652 (GRCm39)	Y803D	probably damaging	Het
Trim5	T	C	7: 103,925,884 (GRCm39)	S226G	possibly damaging	Het
Trim6	T	A	7: 103,881,068 (GRCm39)	D282E	possibly damaging	Het
Ube2e2	A	G	14: 18,586,997 (GRCm38)	V121A	probably benign	Het
Ufd1	T	G	16: 18,636,713 (GRCm39)	M77R	probably benign	Het
Unc13c	C	T	9: 73,441,185 (GRCm39)		probably null	Het
Wfs1	A	G	5: 37,125,578 (GRCm39)	S438P	probably benign	Het
Zbtb6	A	C	2: 37,319,087 (GRCm39)	D280E	probably benign	Het
Zfp595	G	A	13: 67,465,817 (GRCm39)	L152F	probably damaging	Het
Zfpm2	A	G	15: 40,966,671 (GRCm39)	E1052G	possibly damaging	Het
Zmym5	A	G	14: 57,041,653 (GRCm39)	V150A	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
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

Predicted Primers

PCR Primer
(F):5'- TTAGAGCCTATGCACAGGAGC -3'
(R):5'- ACCTAGTATGTGGCAAGCAC -3'

Sequencing Primer
(F):5'- AGGACACTTTTATGCCTTGATTGACC -3'
(R):5'- TGTGGCAAGCACTCAATAAATAC -3'

Posted On

2019-11-12