Mutagenetix > Incidental Mutations

Incidental Mutation 'R3151:Rpf1'

264390

Institutional Source

Beutler Lab

Gene Symbol

Rpf1

Ensembl Gene

ENSMUSG00000028187

Gene Name

ribosome production factor 1 homolog

Synonyms

Bxdc5, 2210420E24Rik, 2310066N05Rik

MMRRC Submission

040603-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R3151 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

146505956-146521429 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 146507635 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 254 (R254W)

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: R254W

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

SMART Domains

Protein: ENSMUSP00000029838
Gene: ENSMUSG00000028187
AA Change: R254W

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

unknown
Transcript: ENSMUST00000199174
AA Change: R48W

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200583

Meta Mutation Damage Score

0.4586

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	A	G	8: 24,781,631	Y587H	probably damaging	Het
Ahnak	T	C	19: 9,009,944	V2864A	probably benign	Het
Ano2	G	A	6: 126,013,317		probably null	Het
Arl5c	A	G	11: 97,992,333	I147T	probably damaging	Het
Asap2	T	A	12: 21,224,377	F369I	probably damaging	Het
Atg4a-ps	A	G	3: 103,645,912	F38L	probably benign	Het
B230217C12Rik	TGTGTCG	TG	11: 97,842,188		probably null	Het
Cacna1s	A	T	1: 136,105,794	Y1003F	probably damaging	Het
Ccdc178	A	T	18: 21,811,561	M847K	probably benign	Het
Clca4b	T	C	3: 144,915,511	K601E	probably benign	Het
Cnih4	A	G	1: 181,153,727		probably benign	Het
Cnpy3	A	T	17: 46,747,526	V57E	probably damaging	Het
Creb3l1	T	A	2: 92,002,033	E48V	probably damaging	Het
Dus3l	T	A	17: 56,768,899	F482I	probably benign	Het
Dync1i2	A	G	2: 71,233,716		probably benign	Het
Echdc1	A	G	10: 29,322,364	T102A	possibly damaging	Het
Elf1	G	A	14: 79,567,315		probably null	Het
Ep400	G	T	5: 110,703,569	T1349N	unknown	Het
Eps15	T	A	4: 109,366,222	D458E	probably benign	Het
F2rl2	G	A	13: 95,701,130	V228I	probably benign	Het
Fads3	T	G	19: 10,057,898	S438A	probably benign	Het
Fcgbp	T	A	7: 28,117,240	C2376S	probably damaging	Het
Fndc3b	A	G	3: 27,419,503	S1138P	possibly damaging	Het
Ggt5	T	C	10: 75,609,242	I361T	probably benign	Het
Gpr158	C	T	2: 21,576,960	R417W	possibly damaging	Het
Gria1	A	G	11: 57,283,562	I626V	probably damaging	Het
Gys2	T	C	6: 142,456,333	E260G	probably benign	Het
Ido2	T	A	8: 24,533,760	Y354F	possibly damaging	Het
Igkv6-23	A	G	6: 70,260,559	L66P	probably benign	Het
Ikbkap	T	C	4: 56,770,985	Y986C	probably benign	Het
Kremen1	T	C	11: 5,195,012	K455E	probably damaging	Het
Krtap19-9b	T	C	16: 88,932,208	S2G	unknown	Het
Magea1	A	T	X: 155,089,097	M211K	probably benign	Het
Mtx2	G	A	2: 74,847,290		probably null	Het
Nlrp14	G	A	7: 107,182,552	V319I	probably benign	Het
Nphs1	A	T	7: 30,460,240	T33S	probably benign	Het
Olfr402	A	T	11: 74,155,640	H162L	probably damaging	Het
Olfr527	A	T	7: 140,336,330	H156L	probably benign	Het
Olfr720	T	A	14: 14,175,203	N293I	probably damaging	Het
P2rx7	A	G	5: 122,681,266	T584A	probably benign	Het
Pclo	A	G	5: 14,521,678	Q359R	probably damaging	Het
Phtf2	T	C	5: 20,765,804	E147G	probably damaging	Het
Ptges2	G	A	2: 32,396,476	A68T	probably benign	Het
Rab33b	A	T	3: 51,493,648	N181I	possibly damaging	Het
Rnf213	A	T	11: 119,468,892	R4370S	probably benign	Het
Serpinb7	A	T	1: 107,435,351	R82*	probably null	Het
Setbp1	A	G	18: 78,857,435	S1006P	probably damaging	Het
Spata31d1a	T	C	13: 59,701,366	S983G	probably benign	Het
Ssr2	T	C	3: 88,580,016	I46T	probably damaging	Het
Ssx2ip	G	A	3: 146,418,383	G51D	probably benign	Het
Synj1	A	T	16: 90,960,626	L878H	probably damaging	Het
Th	G	A	7: 142,894,075	Q329*	probably null	Het
Tln2	C	T	9: 67,330,547		probably null	Het
Trio	A	G	15: 27,805,776	L542P	probably damaging	Het
Trp53bp2	A	G	1: 182,428,960	T32A	probably damaging	Het
Vmn1r40	A	T	6: 89,714,566	T122S	probably benign	Het
Vmn2r121	C	T	X: 124,131,152	C494Y	probably benign	Het
Vmn2r51	A	T	7: 10,100,041	Y357N	probably damaging	Het
Vmn2r55	G	T	7: 12,670,707	S256R	probably benign	Het
Vps8	A	G	16: 21,442,373	T88A	probably benign	Het
Zfp977	A	C	7: 42,580,446	N218K	probably benign	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
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
R5947:Rpf1	UTSW	3	146506544	missense	probably damaging	1.00
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'- TTCCTGTGGCAATGCTTAAAG -3'
(R):5'- TTGACAACAGTAGTCCTCATTACCC -3'

Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- AAGTTCTAAGCCGTTCTGAGCCAG -3'

Posted On

2015-02-05