Mutagenetix > Incidental Mutation

Incidental Mutation 'R5383:Rpf1'

424835

Institutional Source

Beutler Lab

Gene Symbol

Rpf1

Ensembl Gene

ENSMUSG00000028187

Gene Name

ribosome production factor 1 homolog

Synonyms

Bxdc5, 2210420E24Rik, 2310066N05Rik

MMRRC Submission

042958-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.930) question?

Stock #

R5383 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

146505956-146521429 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 146519391 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 94 (D94G)

Ref Sequence

ENSEMBL: ENSMUSP00000029838 (fasta)

Gene Model

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

AlphaFold

Q7TND5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029838
AA Change: D94G

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029838
Gene: ENSMUSG00000028187
AA Change: D94G

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

noncoding transcript
Transcript: ENSMUST00000196909

Predicted Effect

possibly damaging
Transcript: ENSMUST00000199079
AA Change: D94G

PolyPhen 2 Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143279
Gene: ENSMUSG00000028187
AA Change: D94G

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

Meta Mutation Damage Score

0.1223

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 96.0%

Validation Efficiency

97% (61/63)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	A	T	17: 8,992,700	Y227F	possibly damaging	Het
4921501E09Rik	T	C	17: 33,065,257	D857G	probably benign	Het
Aadac	T	C	3: 60,036,075		probably benign	Het
Abl2	G	A	1: 156,642,232	G918E	possibly damaging	Het
Acvr1c	T	C	2: 58,287,735	T241A	probably damaging	Het
Adck1	T	C	12: 88,455,603	V328A	probably benign	Het
Ano6	A	G	15: 95,916,037	I279V	probably benign	Het
AW551984	T	A	9: 39,590,698	Y704F	probably benign	Het
C1s1	T	C	6: 124,534,401	D321G	probably damaging	Het
Cacna1d	T	A	14: 30,045,279	D1910V	possibly damaging	Het
Ccdc129	T	A	6: 55,978,290	L961H	probably benign	Het
Cdh5	A	G	8: 104,137,847	Q480R	probably benign	Het
Cdhr1	C	T	14: 37,089,007	V266M	possibly damaging	Het
Cdk5rap1	A	T	2: 154,350,835	V414D	possibly damaging	Het
Ctdnep1	T	A	11: 69,984,396		probably benign	Het
Cyfip2	T	C	11: 46,278,091	M212V	possibly damaging	Het
D130043K22Rik	G	A	13: 24,857,414	S273N	probably benign	Het
Ddi2	A	G	4: 141,684,852	S250P	probably damaging	Het
Dennd1b	A	G	1: 139,167,671	T486A	probably benign	Het
Disc1	A	G	8: 125,135,457	T523A	probably damaging	Het
Dmbx1	A	G	4: 115,918,145	S313P	probably damaging	Het
Dmpk	C	G	7: 19,088,019	L301V	probably benign	Het
Dnah11	T	C	12: 118,085,697	E1664G	probably damaging	Het
Dpysl3	A	T	18: 43,438,038	V57E	probably damaging	Het
Fam98a	C	T	17: 75,538,581	G390E	unknown	Het
Hook3	C	A	8: 26,118,989	R9L	probably benign	Het
Igkv4-80	A	C	6: 69,016,665	S81A	probably benign	Het
Impg2	A	G	16: 56,243,626	D298G	probably benign	Het
Inf2	T	A	12: 112,600,145	V48D	probably damaging	Het
Kcnh1	G	A	1: 192,505,691	G820D	probably benign	Het
Lsm14a	C	T	7: 34,389,364	A39T	possibly damaging	Het
Muc2	T	C	7: 141,753,719	C804R	probably damaging	Het
Nim1k	C	T	13: 119,727,799	V25M	probably benign	Het
Olfr1246	T	C	2: 89,591,113	M1V	probably null	Het
Olfr1484	T	A	19: 13,586,075	M257K	probably damaging	Het
Olfr741	T	A	14: 50,486,052	L198*	probably null	Het
Olfr780	A	G	10: 129,322,336	T238A	probably damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pitrm1	T	A	13: 6,577,432	H856Q	probably damaging	Het
Pkd1	T	C	17: 24,574,375	C1679R	probably benign	Het
Pkp4	T	A	2: 59,310,273	L441*	probably null	Het
Ppp4r4	T	C	12: 103,584,168	F284L	probably benign	Het
Ptprt	T	A	2: 161,698,049	K769M	probably damaging	Het
Rbm12	G	T	2: 156,103,365		probably benign	Het
Scap	G	T	9: 110,374,529	K310N	probably damaging	Het
Smpd2	C	T	10: 41,488,702		probably benign	Het
Sp110	TC	TCC	1: 85,591,569		probably null	Het
Specc1l	T	A	10: 75,246,705	I662N	possibly damaging	Het
Sptan1	T	A	2: 30,011,328	V1496D	probably damaging	Het
Srrm4	T	C	5: 116,471,260		probably benign	Het
Taf2	A	G	15: 55,049,419	I515T	possibly damaging	Het
Tdrd3	C	T	14: 87,480,791	Q203*	probably null	Het
Tfap2b	A	T	1: 19,226,498	M222L	probably benign	Het
Tmem43	G	A	6: 91,473,890	A2T	probably benign	Het
Trav9-1	T	A	14: 53,488,376	I49N	probably benign	Het
Trim23	T	G	13: 104,198,697	N410K	probably damaging	Het
Ttbk1	T	C	17: 46,467,416	T567A	probably damaging	Het
Unc79	A	G	12: 103,104,627	N1081S	possibly damaging	Het
Zfp451	A	C	1: 33,813,806	I9R	probably damaging	Het
Zfp563	T	A	17: 33,104,707	M92K	probably benign	Het
Zfp618	G	A	4: 63,095,492	G198D	probably benign	Het
Zfp637	G	T	6: 117,843,309		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
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
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
R9317:Rpf1	UTSW	3	146512261	missense	probably benign	0.14
R9406:Rpf1	UTSW	3	146508182	missense	probably damaging	1.00
R9746:Rpf1	UTSW	3	146517778	missense	probably damaging	1.00
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'- CATCTGAGCGAGCTACTGAG -3'
(R):5'- AGCCTGCCCATTTGTAGTTC -3'

Sequencing Primer
(F):5'- CATCTGAGCGAGCTACTGAGAATAG -3'
(R):5'- AGTGGGAGTATGCACCTGTAATC -3'

Posted On

2016-08-04