Mutagenetix > Incidental Mutation

Incidental Mutation 'R4843:Rpf2'

372002

Institutional Source

Beutler Lab

Gene Symbol

Rpf2

Ensembl Gene

ENSMUSG00000038510

Gene Name

ribosome production factor 2 homolog

Synonyms

2810470K21Rik, Bxdc1

MMRRC Submission

042456-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.944) question?

Stock #

R4843 (G1)

Quality Score

180

Status

Not validated

Chromosome

Chromosomal Location

40099242-40123032 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 40122998 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151091 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019982] [ENSMUST00000045114] [ENSMUST00000181995] [ENSMUST00000183052] [ENSMUST00000183114] [ENSMUST00000183309] [ENSMUST00000213628] [ENSMUST00000216847] [ENSMUST00000217537] [ENSMUST00000217141]

AlphaFold

Q9JJ80

Predicted Effect

probably benign
Transcript: ENSMUST00000019982

SMART Domains

Protein: ENSMUSP00000019982
Gene: ENSMUSG00000019837

Domain	Start	End	E-Value	Type
low complexity region	16	35	N/A	INTRINSIC
Pfam:TFIIIC_sub6	51	84	7e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000045114

SMART Domains

Protein: ENSMUSP00000035456
Gene: ENSMUSG00000038510

Domain	Start	End	E-Value	Type
Brix	1	195	3.25e-51	SMART
low complexity region	208	219	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000181995

SMART Domains

Protein: ENSMUSP00000138425
Gene: ENSMUSG00000038510

Domain	Start	End	E-Value	Type
Brix	34	202	8.11e-29	SMART
low complexity region	215	226	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183052

SMART Domains

Protein: ENSMUSP00000138646
Gene: ENSMUSG00000038510

Domain	Start	End	E-Value	Type
Brix	34	175	6.08e-10	SMART
low complexity region	188	199	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183114

SMART Domains

Protein: ENSMUSP00000138750
Gene: ENSMUSG00000038510

Domain	Start	End	E-Value	Type
Brix	3	149	1.26e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000183309

SMART Domains

Protein: ENSMUSP00000138581
Gene: ENSMUSG00000038510

Domain	Start	End	E-Value	Type
Brix	34	228	3.25e-51	SMART
low complexity region	241	252	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000213628

Predicted Effect

probably benign
Transcript: ENSMUST00000216847

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217457

Predicted Effect

probably benign
Transcript: ENSMUST00000217537

Predicted Effect

probably benign
Transcript: ENSMUST00000217141

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.1%

Validation Efficiency

95% (58/61)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp1	T	A	12: 30,946,144 (GRCm39)	K124*	probably null	Het
Actl11	G	T	9: 107,806,691 (GRCm39)	C338F	possibly damaging	Het
Adam5	G	A	8: 25,303,552 (GRCm39)	S125F	probably damaging	Het
Ap2s1	C	A	7: 16,477,271 (GRCm39)	A44D	possibly damaging	Het
AW554918	T	C	18: 25,473,057 (GRCm39)	V84A	probably benign	Het
Bsn	G	A	9: 107,984,388 (GRCm39)	T3222M	unknown	Het
Car15	A	G	16: 17,654,472 (GRCm39)	Y155H	possibly damaging	Het
Cdca2	G	T	14: 67,914,425 (GRCm39)	P945T	probably damaging	Het
Cdh16	A	G	8: 105,348,172 (GRCm39)	F182L	probably damaging	Het
Cers6	G	A	2: 68,899,003 (GRCm39)	A214T	probably benign	Het
Ces1g	A	T	8: 94,057,893 (GRCm39)	M136K	probably damaging	Het
Cnppd1	A	G	1: 75,113,086 (GRCm39)	V394A	probably benign	Het
Cyp3a59	A	T	5: 146,033,071 (GRCm39)	I148F	possibly damaging	Het
Dnah1	G	A	14: 30,986,920 (GRCm39)	A3624V	probably damaging	Het
Exoc3l4	T	C	12: 111,394,487 (GRCm39)		probably benign	Het
Fap	G	T	2: 62,374,718 (GRCm39)	P227Q	probably damaging	Het
Fbxw10	G	A	11: 62,738,151 (GRCm39)	R15H	possibly damaging	Het
Gm11011	T	C	2: 169,429,240 (GRCm39)		probably benign	Het
Gm11146	A	C	16: 77,392,144 (GRCm39)		probably benign	Het
Grip1	G	A	10: 119,765,920 (GRCm39)	R84Q	probably damaging	Het
Hipk2	A	G	6: 38,796,192 (GRCm39)	C19R	possibly damaging	Het
Hmgcll1	A	G	9: 75,979,916 (GRCm39)	D102G	possibly damaging	Het
Ighv16-1	A	T	12: 114,032,504 (GRCm39)	Y99*	probably null	Het
Kank1	T	G	19: 25,408,371 (GRCm39)	S1283R	probably damaging	Het
Kcnip1	T	A	11: 33,594,504 (GRCm39)	H95L	probably benign	Het
L3mbtl3	A	T	10: 26,207,777 (GRCm39)	L314Q	unknown	Het
Marveld3	C	A	8: 110,688,702 (GRCm39)	R13L	possibly damaging	Het
Mtrf1l	G	T	10: 5,773,696 (GRCm39)	P23Q	possibly damaging	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Or5p69	G	A	7: 107,967,350 (GRCm39)	A218T	probably benign	Het
Or6c1b	G	T	10: 129,273,316 (GRCm39)	V212L	probably benign	Het
Paqr7	A	G	4: 134,234,278 (GRCm39)	Y45C	probably damaging	Het
Plod3	G	A	5: 137,019,854 (GRCm39)	W428*	probably null	Het
Pnisr	T	A	4: 21,857,400 (GRCm39)		probably benign	Het
Ppip5k1	C	A	2: 121,157,368 (GRCm39)	R1046L	probably damaging	Het
Ppp1r12b	G	T	1: 134,883,471 (GRCm39)	A17E	probably benign	Het
Prmt5	A	T	14: 54,753,582 (GRCm39)	I99N	probably benign	Het
Ripk2	T	C	4: 16,155,073 (GRCm39)	T149A	probably damaging	Het
Rtf1	T	A	2: 119,536,017 (GRCm39)	D190E	possibly damaging	Het
Shank2	T	A	7: 143,585,146 (GRCm39)	M49K	probably benign	Het
Snd1	T	G	6: 28,668,642 (GRCm39)	V443G	probably damaging	Het
Spag9	T	C	11: 93,988,644 (GRCm39)	F555L	probably damaging	Het
Srfbp1	A	G	18: 52,621,749 (GRCm39)	K270R	probably benign	Het
Tenm2	T	A	11: 35,914,847 (GRCm39)	N2230I	probably damaging	Het
Tmem106a	T	C	11: 101,477,021 (GRCm39)		probably benign	Het
Tpsg1	A	T	17: 25,589,591 (GRCm39)		probably benign	Het
Trank1	A	G	9: 111,195,146 (GRCm39)	S1057G	probably benign	Het
Unc13d	G	A	11: 115,965,085 (GRCm39)	T220M	probably damaging	Het
Vmn1r68	T	C	7: 10,261,904 (GRCm39)	T65A	probably benign	Het
Vps50	T	C	6: 3,536,974 (GRCm39)		probably null	Het
Washc5	A	G	15: 59,222,220 (GRCm39)	I85T	possibly damaging	Het
Zfp677	C	T	17: 21,612,788 (GRCm39)	T2I	probably benign	Het
Zxdc	A	G	6: 90,359,254 (GRCm39)	T629A	probably damaging	Het

Other mutations in Rpf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00800:Rpf2	APN	10	40,115,755 (GRCm39)	nonsense	probably null
R0190:Rpf2	UTSW	10	40,103,597 (GRCm39)	missense	probably damaging	1.00
R1880:Rpf2	UTSW	10	40,109,154 (GRCm39)	missense	possibly damaging	0.52
R1912:Rpf2	UTSW	10	40,112,197 (GRCm39)	missense	probably benign	0.22
R2989:Rpf2	UTSW	10	40,115,749 (GRCm39)	missense	probably benign	0.02
R4401:Rpf2	UTSW	10	40,112,124 (GRCm39)	missense	possibly damaging	0.91
R5092:Rpf2	UTSW	10	40,122,971 (GRCm39)	start codon destroyed	probably null	0.63
R5394:Rpf2	UTSW	10	40,109,181 (GRCm39)	missense	possibly damaging	0.48
R5473:Rpf2	UTSW	10	40,103,627 (GRCm39)	missense	possibly damaging	0.64
R7999:Rpf2	UTSW	10	40,099,880 (GRCm39)	missense	probably damaging	1.00
R8425:Rpf2	UTSW	10	40,101,429 (GRCm39)	nonsense	probably null
R8446:Rpf2	UTSW	10	40,115,752 (GRCm39)	missense	probably benign	0.35
R9304:Rpf2	UTSW	10	40,119,850 (GRCm39)	critical splice donor site	probably null
R9423:Rpf2	UTSW	10	40,101,336 (GRCm39)	missense	possibly damaging	0.94
Z1176:Rpf2	UTSW	10	40,119,868 (GRCm39)	nonsense	probably null

Predicted Primers

Posted On

2016-03-01