Mutagenetix > Incidental Mutation

Incidental Mutation 'R9427:Rft1'

712695

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 #

R9427 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30376317-30413274 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30411781 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 443 (I443N)

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: I443N

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

SMART Domains

Protein: ENSMUSP00000064153
Gene: ENSMUSG00000052395
AA Change: I443N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000226817

Predicted Effect

probably benign
Transcript: ENSMUST00000228686

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	T	C	2: 103,531,244 (GRCm39)	L458P	probably damaging	Het
Adgrl2	T	C	3: 148,526,068 (GRCm39)	N130S		Het
Adgrv1	T	C	13: 81,732,234 (GRCm39)	S161G	probably benign	Het
Aldh1l1	A	G	6: 90,536,903 (GRCm39)	D153G	probably benign	Het
Arhgap20	G	A	9: 51,754,991 (GRCm39)	S444N	probably damaging	Het
Bpifc	A	G	10: 85,812,129 (GRCm39)	F360L	probably benign	Het
Cacna1s	A	T	1: 136,012,090 (GRCm39)	I511F	probably benign	Het
Chdh	G	A	14: 29,758,806 (GRCm39)	V584I	probably benign	Het
Col12a1	T	C	9: 79,589,445 (GRCm39)	R1037G	probably benign	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Col6a5	T	C	9: 105,816,992 (GRCm39)	N440D	unknown	Het
Dsel	A	T	1: 111,787,425 (GRCm39)	Y1037N	probably damaging	Het
Eloa	A	G	4: 135,748,935 (GRCm39)	M1T	probably null	Het
Elp2	C	G	18: 24,755,560 (GRCm39)	P436A	probably damaging	Het
Etv5	A	C	16: 22,218,112 (GRCm39)	S328A	probably damaging	Het
Fat3	A	T	9: 16,288,691 (GRCm39)	Y277*	probably null	Het
Fbxo38	A	T	18: 62,644,160 (GRCm39)	H899Q	probably benign	Het
Fstl5	T	C	3: 76,229,583 (GRCm39)	V128A		Het
Gm3371	T	C	14: 44,641,066 (GRCm39)	E166G		Het
Herc6	T	C	6: 57,636,722 (GRCm39)	S813P	probably damaging	Het
Ifnlr1	G	A	4: 135,426,142 (GRCm39)	G75D	probably damaging	Het
Kbtbd2	A	T	6: 56,756,132 (GRCm39)	C535S	probably damaging	Het
Lgr5	A	C	10: 115,288,913 (GRCm39)	L577W	probably damaging	Het
Limk1	A	T	5: 134,686,358 (GRCm39)	D590E	probably benign	Het
Lnpep	A	T	17: 17,795,609 (GRCm39)	S301T	probably benign	Het
Lrch1	A	C	14: 75,032,787 (GRCm39)	V521G	probably benign	Het
Lrrc71	T	C	3: 87,650,368 (GRCm39)	H235R	probably benign	Het
Mttp	A	G	3: 137,820,962 (GRCm39)	S282P	probably benign	Het
Nup210l	C	T	3: 90,107,173 (GRCm39)	P1570L	probably benign	Het
Or2t1	G	A	14: 14,328,456 (GRCm38)	G115D	probably damaging	Het
Or55b10	T	A	7: 102,143,206 (GRCm39)	T259S	probably benign	Het
Or5a3	T	C	19: 12,399,889 (GRCm39)	V72A		Het
Or5m13	T	C	2: 85,748,704 (GRCm39)	V145A	probably benign	Het
Or7a41	C	T	10: 78,871,395 (GRCm39)	T255I	probably damaging	Het
Or7c70	A	G	10: 78,682,906 (GRCm39)	V281A	probably damaging	Het
Pira12	T	G	7: 3,897,284 (GRCm39)		probably null	Het
Ppfia3	T	C	7: 45,008,213 (GRCm39)	Q219R	possibly damaging	Het
Prdm5	T	A	6: 65,771,321 (GRCm39)	M44K	possibly damaging	Het
Psmc5	T	C	11: 106,153,303 (GRCm39)	I315T	probably damaging	Het
Ptprd	T	A	4: 76,051,440 (GRCm39)	E27V	probably benign	Het
Rsf1	G	GACGGCGGCC	7: 97,229,116 (GRCm39)		probably benign	Het
Slco1a5	A	G	6: 142,214,001 (GRCm39)	M40T	probably damaging	Het
Svep1	T	C	4: 58,069,804 (GRCm39)	T2661A	possibly damaging	Het
Tigit	T	C	16: 43,482,515 (GRCm39)	D73G	probably benign	Het
Tmem237	G	A	1: 59,159,213 (GRCm39)		probably benign	Het
Trim42	T	C	9: 97,247,874 (GRCm39)	D274G	probably damaging	Het
Trmt61a	C	A	12: 111,647,490 (GRCm39)	L196I	probably damaging	Het
Tspan8	T	C	10: 115,669,213 (GRCm39)	C83R	probably damaging	Het
Ttc7	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTGCTG	17: 87,678,147 (GRCm39)		probably benign	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Unc80	G	A	1: 66,594,158 (GRCm39)	G1179E	probably damaging	Het
Vmn2r2	A	G	3: 64,041,945 (GRCm39)	S257P	probably damaging	Het
Xpo6	G	T	7: 125,748,418 (GRCm39)	Y404*	probably null	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
R9301:Rft1	UTSW	14	30,398,812 (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'- TCATCCGGGGCAATGTGAAC -3'
(R):5'- ATGGTGAACAGCCTACAGAAGC -3'

Sequencing Primer
(F):5'- GCAATGTGAACTCAGGGATCTTTC -3'
(R):5'- CAAGTGGTGTGAAGGCTGCC -3'

Posted On

2022-05-16