Mutagenetix > Incidental Mutation

Incidental Mutation 'R5947:Rpf1'

472217

Institutional Source

Beutler Lab

Gene Symbol

Rpf1

Ensembl Gene

ENSMUSG00000028187

Gene Name

ribosome production factor 1 homolog

Synonyms

Bxdc5, 2210420E24Rik, 2310066N05Rik

MMRRC Submission

044138-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

R5947 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

146212099-146227184 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 146212299 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 347 (F347S)

Ref Sequence

ENSEMBL: ENSMUSP00000029838 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029838] [ENSMUST00000090031] [ENSMUST00000118280] [ENSMUST00000119130] [ENSMUST00000199079]

AlphaFold

Q7TND5

Predicted Effect

probably damaging
Transcript: ENSMUST00000029838
AA Change: F347S

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

SMART Domains

Protein: ENSMUSP00000029838
Gene: ENSMUSG00000028187
AA Change: F347S

Domain	Start	End	E-Value	Type
low complexity region	10	31	N/A	INTRINSIC
low complexity region	71	92	N/A	INTRINSIC
Brix	145	319	4.82e-54	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000090031

SMART Domains

Protein: ENSMUSP00000087485
Gene: ENSMUSG00000068523

Domain	Start	End	E-Value	Type
G_gamma	4	68	1.06e-20	SMART
GGL	7	68	2.79e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118280

SMART Domains

Protein: ENSMUSP00000114014
Gene: ENSMUSG00000068523

Domain	Start	End	E-Value	Type
G_gamma	4	68	1.06e-20	SMART
GGL	7	68	2.79e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119130

SMART Domains

Protein: ENSMUSP00000113018
Gene: ENSMUSG00000068523

Domain	Start	End	E-Value	Type
G_gamma	1	67	9.67e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196909

Predicted Effect

probably benign
Transcript: ENSMUST00000199079

SMART Domains

Protein: ENSMUSP00000143279
Gene: ENSMUSG00000028187

Domain	Start	End	E-Value	Type
low complexity region	10	31	N/A	INTRINSIC
low complexity region	71	92	N/A	INTRINSIC
Pfam:Brix	146	211	4.7e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000199174

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200583

Meta Mutation Damage Score

0.5776

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.1%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	T	C	8: 124,694,737 (GRCm39)		probably null	Het
Abt1	T	C	13: 23,606,225 (GRCm39)	E243G	possibly damaging	Het
Afap1l1	A	G	18: 61,876,771 (GRCm39)	S361P	probably damaging	Het
Alms1	T	C	6: 85,596,694 (GRCm39)	S507P	probably benign	Het
Atp13a3	A	G	16: 30,181,518 (GRCm39)	V34A	probably benign	Het
Atpaf2	A	T	11: 60,296,708 (GRCm39)		probably benign	Het
Bbs1	A	C	19: 4,943,022 (GRCm39)	L456R	probably benign	Het
Bri3bp	G	T	5: 125,529,217 (GRCm39)	G84*	probably null	Het
Bri3bp	G	C	5: 125,529,218 (GRCm39)		probably benign	Het
Car10	A	C	11: 93,381,439 (GRCm39)	H134P	probably damaging	Het
Cntrl	A	G	2: 35,006,691 (GRCm39)	E119G	probably damaging	Het
Cxcl3	C	T	5: 90,934,175 (GRCm39)		probably benign	Het
Dppa4	T	C	16: 48,111,471 (GRCm39)	V100A	possibly damaging	Het
Elmo1	G	T	13: 20,474,553 (GRCm39)	E105*	probably null	Het
Esrp2	T	G	8: 106,859,565 (GRCm39)		probably benign	Het
Exoc3l4	A	G	12: 111,388,835 (GRCm39)	K108R	possibly damaging	Het
Exph5	G	A	9: 53,286,522 (GRCm39)	R1201H	probably benign	Het
Galnt3	A	C	2: 65,914,500 (GRCm39)		probably benign	Het
Gm14486	C	T	2: 30,548,813 (GRCm39)		noncoding transcript	Het
Gna12	T	A	5: 140,746,717 (GRCm39)	I243F	probably damaging	Het
Itga5	A	T	15: 103,265,212 (GRCm39)	W232R	probably damaging	Het
Lekr1	A	T	3: 65,680,498 (GRCm39)		noncoding transcript	Het
Lrp1	C	T	10: 127,425,423 (GRCm39)		probably null	Het
Mast4	T	C	13: 102,872,148 (GRCm39)	M2215V	probably benign	Het
Mfap5	T	C	6: 122,502,945 (GRCm39)	Y52H	probably damaging	Het
Mrps31	A	G	8: 22,904,991 (GRCm39)	K127E	possibly damaging	Het
Mto1	C	T	9: 78,368,311 (GRCm39)	T485M	probably damaging	Het
Mybbp1a	G	A	11: 72,333,257 (GRCm39)	C107Y	probably damaging	Het
Nedd4	G	A	9: 72,638,132 (GRCm39)		probably benign	Het
Nek2	A	G	1: 191,561,597 (GRCm39)	E360G	probably benign	Het
Notch1	T	A	2: 26,352,540 (GRCm39)		probably benign	Het
Nubp1	T	C	16: 10,238,050 (GRCm39)		probably benign	Het
Pcdhb1	G	A	18: 37,399,726 (GRCm39)	R559H	possibly damaging	Het
Pdcd11	G	A	19: 47,117,702 (GRCm39)	V1684I	probably benign	Het
Pggt1b	G	T	18: 46,382,007 (GRCm39)	N258K	probably benign	Het
Pou6f1	C	T	15: 100,484,001 (GRCm39)	V166M	possibly damaging	Het
Pprc1	A	G	19: 46,052,111 (GRCm39)	D546G	possibly damaging	Het
Psapl1	T	C	5: 36,361,651 (GRCm39)	V81A	probably benign	Het
Rin2	T	A	2: 145,686,863 (GRCm39)		probably benign	Het
Rrp12	A	T	19: 41,859,247 (GRCm39)		probably null	Het
Ryr1	A	T	7: 28,771,349 (GRCm39)	L2557Q	probably null	Het
Slc1a7	T	C	4: 107,867,497 (GRCm39)		probably benign	Het
Slc35e2	T	A	4: 155,696,171 (GRCm39)	M186K	possibly damaging	Het
Slc49a4	T	C	16: 35,550,676 (GRCm39)	T308A	probably benign	Het
Snx6	G	T	12: 54,817,549 (GRCm39)	S116*	probably null	Het
Sptan1	T	C	2: 29,884,379 (GRCm39)		probably null	Het
Sucla2	T	A	14: 73,830,109 (GRCm39)	M382K	probably damaging	Het
Susd5	T	C	9: 113,886,659 (GRCm39)	L16P	possibly damaging	Het
Tmem260	G	A	14: 48,724,258 (GRCm39)	A369T	possibly damaging	Het
Tmprss6	A	G	15: 78,336,722 (GRCm39)	Y393H	probably damaging	Het
Tnrc6c	A	T	11: 117,613,345 (GRCm39)	Q501L	probably damaging	Het
Trim17	A	G	11: 58,856,369 (GRCm39)	Y142C	probably damaging	Het
Trim65	T	C	11: 116,019,108 (GRCm39)	R144G	probably damaging	Het
Trpm1	A	G	7: 63,873,547 (GRCm39)	T601A	probably benign	Het
Ttn	A	T	2: 76,564,688 (GRCm39)	V28483E	probably damaging	Het
Ube2l3	T	C	16: 17,019,340 (GRCm39)		probably null	Het
Ube2l3	G	T	16: 17,019,336 (GRCm39)		probably benign	Het
Yme1l1	T	C	2: 23,085,318 (GRCm39)		probably benign	Het
Zfat	A	G	15: 68,051,806 (GRCm39)	S663P	probably benign	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het

Other mutations in Rpf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00492:Rpf1	APN	3	146,218,002 (GRCm39)	missense	probably benign	0.10
IGL01371:Rpf1	APN	3	146,213,302 (GRCm39)	missense	probably damaging	1.00
IGL01729:Rpf1	APN	3	146,212,904 (GRCm39)	missense	probably damaging	1.00
IGL02122:Rpf1	APN	3	146,227,022 (GRCm39)	missense	probably benign
R0196:Rpf1	UTSW	3	146,213,904 (GRCm39)	missense	possibly damaging	0.86
R1664:Rpf1	UTSW	3	146,217,903 (GRCm39)	missense	probably benign	0.01
R2019:Rpf1	UTSW	3	146,226,976 (GRCm39)	missense	probably damaging	1.00
R3151:Rpf1	UTSW	3	146,213,390 (GRCm39)	missense	probably damaging	1.00
R4989:Rpf1	UTSW	3	146,212,293 (GRCm39)	missense	probably damaging	1.00
R5133:Rpf1	UTSW	3	146,212,293 (GRCm39)	missense	probably damaging	1.00
R5134:Rpf1	UTSW	3	146,212,293 (GRCm39)	missense	probably damaging	1.00
R5172:Rpf1	UTSW	3	146,218,050 (GRCm39)	missense	possibly damaging	0.94
R5383:Rpf1	UTSW	3	146,225,146 (GRCm39)	missense	possibly damaging	0.92
R5525:Rpf1	UTSW	3	146,223,559 (GRCm39)	splice site	silent
R5927:Rpf1	UTSW	3	146,225,218 (GRCm39)	splice site	probably null
R7070:Rpf1	UTSW	3	146,217,939 (GRCm39)	missense	probably damaging	1.00
R7311:Rpf1	UTSW	3	146,212,918 (GRCm39)	missense	probably benign	0.42
R8345:Rpf1	UTSW	3	146,213,431 (GRCm39)	missense	probably benign	0.17
R9317:Rpf1	UTSW	3	146,218,016 (GRCm39)	missense	probably benign	0.14
R9406:Rpf1	UTSW	3	146,213,937 (GRCm39)	missense	probably damaging	1.00
R9746:Rpf1	UTSW	3	146,223,533 (GRCm39)	missense	probably damaging	1.00
Y5404:Rpf1	UTSW	3	146,218,591 (GRCm39)	missense	probably damaging	1.00
Y5405:Rpf1	UTSW	3	146,218,591 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGCTTATCTGAAATGACAGCAAG -3'
(R):5'- TAGAAACTAGACCTCTCGACCG -3'

Sequencing Primer
(F):5'- CTGAAATGACAGCAAGTTTTAGGAC -3'
(R):5'- GACTGTTCAGGGTCTCAGACACAG -3'

Posted On

2017-03-31