Mutagenetix > Incidental Mutations

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

Is this an essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R5947 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

146505956-146521429 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 146506544 bp

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]

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: 123,967,998		probably null	Het
Abt1	T	C	13: 23,422,055	E243G	possibly damaging	Het
Afap1l1	A	G	18: 61,743,700	S361P	probably damaging	Het
Alms1	T	C	6: 85,619,712	S507P	probably benign	Het
Atp13a3	A	G	16: 30,362,700	V34A	probably benign	Het
Atpaf2	A	T	11: 60,405,882		probably benign	Het
Bbs1	A	C	19: 4,892,994	L456R	probably benign	Het
Bri3bp	G	T	5: 125,452,153	G84*	probably null	Het
Bri3bp	G	C	5: 125,452,154		probably benign	Het
Car10	A	C	11: 93,490,613	H134P	probably damaging	Het
Cntrl	A	G	2: 35,116,679	E119G	probably damaging	Het
Cxcl3	C	T	5: 90,786,316		probably benign	Het
Dirc2	T	C	16: 35,730,306	T308A	probably benign	Het
Dppa4	T	C	16: 48,291,108	V100A	possibly damaging	Het
Elmo1	G	T	13: 20,290,383	E105*	probably null	Het
Esrp2	T	G	8: 106,132,933		probably benign	Het
Exoc3l4	A	G	12: 111,422,401	K108R	possibly damaging	Het
Exph5	G	A	9: 53,375,222	R1201H	probably benign	Het
Galnt3	A	C	2: 66,084,156		probably benign	Het
Gm14486	C	T	2: 30,658,801		noncoding transcript	Het
Gna12	T	A	5: 140,760,962	I243F	probably damaging	Het
Itga5	A	T	15: 103,356,785	W232R	probably damaging	Het
Lekr1	A	T	3: 65,773,077		noncoding transcript	Het
Lrp1	C	T	10: 127,589,554		probably null	Het
Mast4	T	C	13: 102,735,640	M2215V	probably benign	Het
Mfap5	T	C	6: 122,525,986	Y52H	probably damaging	Het
Mrps31	A	G	8: 22,414,975	K127E	possibly damaging	Het
Mto1	C	T	9: 78,461,029	T485M	probably damaging	Het
Mybbp1a	G	A	11: 72,442,431	C107Y	probably damaging	Het
Nedd4	G	A	9: 72,730,850		probably benign	Het
Nek2	A	G	1: 191,829,485	E360G	probably benign	Het
Notch1	T	A	2: 26,462,528		probably benign	Het
Nubp1	T	C	16: 10,420,186		probably benign	Het
Pcdhb1	G	A	18: 37,266,673	R559H	possibly damaging	Het
Pdcd11	G	A	19: 47,129,263	V1684I	probably benign	Het
Pggt1b	G	T	18: 46,248,940	N258K	probably benign	Het
Pou6f1	C	T	15: 100,586,120	V166M	possibly damaging	Het
Pprc1	A	G	19: 46,063,672	D546G	possibly damaging	Het
Psapl1	T	C	5: 36,204,307	V81A	probably benign	Het
Rin2	T	A	2: 145,844,943		probably benign	Het
Rrp12	A	T	19: 41,870,808		probably null	Het
Ryr1	A	T	7: 29,071,924	L2557Q	probably null	Het
Slc1a7	T	C	4: 108,010,300		probably benign	Het
Slc35e2	T	A	4: 155,611,714	M186K	possibly damaging	Het
Snx6	G	T	12: 54,770,764	S116*	probably null	Het
Sptan1	T	C	2: 29,994,367		probably null	Het
Sucla2	T	A	14: 73,592,669	M382K	probably damaging	Het
Susd5	T	C	9: 114,057,591	L16P	possibly damaging	Het
Tmem260	G	A	14: 48,486,801	A369T	possibly damaging	Het
Tmprss6	A	G	15: 78,452,522	Y393H	probably damaging	Het
Tnrc6c	A	T	11: 117,722,519	Q501L	probably damaging	Het
Trim17	A	G	11: 58,965,543	Y142C	probably damaging	Het
Trim65	T	C	11: 116,128,282	R144G	probably damaging	Het
Trpm1	A	G	7: 64,223,799	T601A	probably benign	Het
Ttn	A	T	2: 76,734,344	V28483E	probably damaging	Het
Ube2l3	G	T	16: 17,201,472		probably benign	Het
Ube2l3	T	C	16: 17,201,476		probably null	Het
Yme1l1	T	C	2: 23,195,306		probably benign	Het
Zfat	A	G	15: 68,179,957	S663P	probably benign	Het
Zfp647	G	A	15: 76,912,085	P125L	probably damaging	Het

Other mutations in Rpf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00492:Rpf1	APN	3	146512247	missense	probably benign	0.10
IGL01371:Rpf1	APN	3	146507547	missense	probably damaging	1.00
IGL01729:Rpf1	APN	3	146507149	missense	probably damaging	1.00
IGL02122:Rpf1	APN	3	146521267	missense	probably benign
R0196:Rpf1	UTSW	3	146508149	missense	possibly damaging	0.86
R1664:Rpf1	UTSW	3	146512148	missense	probably benign	0.01
R2019:Rpf1	UTSW	3	146521221	missense	probably damaging	1.00
R3151:Rpf1	UTSW	3	146507635	missense	probably damaging	1.00
R4989:Rpf1	UTSW	3	146506538	missense	probably damaging	1.00
R5133:Rpf1	UTSW	3	146506538	missense	probably damaging	1.00
R5134:Rpf1	UTSW	3	146506538	missense	probably damaging	1.00
R5172:Rpf1	UTSW	3	146512295	missense	possibly damaging	0.94
R5383:Rpf1	UTSW	3	146519391	missense	possibly damaging	0.92
R5525:Rpf1	UTSW	3	146517804	splice site	silent
R5927:Rpf1	UTSW	3	146519463	splice site	probably null
R7070:Rpf1	UTSW	3	146512184	missense	probably damaging	1.00
R7311:Rpf1	UTSW	3	146507163	missense	probably benign	0.42
R8345:Rpf1	UTSW	3	146507676	missense	probably benign	0.17
Y5404:Rpf1	UTSW	3	146512836	missense	probably damaging	1.00
Y5405:Rpf1	UTSW	3	146512836	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