Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02122:Rpf1'

280677

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rpf1

Ensembl Gene

ENSMUSG00000028187

Gene Name

ribosome production factor 1 homolog

Synonyms

Bxdc5, 2210420E24Rik, 2310066N05Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.925) question?

Stock #

IGL02122

Quality Score

Status

Chromosome

Chromosomal Location

146505956-146521429 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 146521267 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 44 (K44E)

Ref Sequence

ENSEMBL: ENSMUSP00000143279 (fasta)

Gene Model

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

AlphaFold

Q7TND5

Predicted Effect

probably benign
Transcript: ENSMUST00000029838
AA Change: K44E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000029838
Gene: ENSMUSG00000028187
AA Change: K44E

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

probably benign
Transcript: ENSMUST00000199079
AA Change: K44E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000143279
Gene: ENSMUSG00000028187
AA Change: K44E

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	T	12: 71,170,525 (GRCm38)	T756I	possibly damaging	Het
Abi3bp	T	C	16: 56,687,128 (GRCm38)		probably benign	Het
Adcy5	G	A	16: 35,283,612 (GRCm38)		probably benign	Het
Adcy6	T	A	15: 98,598,882 (GRCm38)	H504L	possibly damaging	Het
Ank2	A	G	3: 126,937,874 (GRCm38)		probably benign	Het
Atxn2	A	G	5: 121,778,030 (GRCm38)	D34G	probably damaging	Het
Brd8	C	T	18: 34,602,727 (GRCm38)	S899N	probably damaging	Het
Carmil1	T	C	13: 24,036,558 (GRCm38)	E657G	possibly damaging	Het
Cdc25c	T	C	18: 34,743,985 (GRCm38)	I212V	probably benign	Het
Chl1	A	G	6: 103,675,137 (GRCm38)	D338G	probably benign	Het
Cog6	T	C	3: 52,998,342 (GRCm38)	I361V	probably benign	Het
Dip2c	T	C	13: 9,506,659 (GRCm38)	S80P	possibly damaging	Het
Dmrtc2	A	T	7: 24,872,583 (GRCm38)	R34S	possibly damaging	Het
Exph5	A	G	9: 53,373,674 (GRCm38)	N685S	probably benign	Het
Flnc	A	T	6: 29,444,336 (GRCm38)	I684L	possibly damaging	Het
Foxk1	T	A	5: 142,451,429 (GRCm38)		probably benign	Het
Gprc6a	T	C	10: 51,626,723 (GRCm38)	N348S	probably benign	Het
Gspt1	T	C	16: 11,229,216 (GRCm38)	K445R	probably damaging	Het
Hace1	T	C	10: 45,618,604 (GRCm38)	V170A	probably damaging	Het
Hydin	T	C	8: 110,494,415 (GRCm38)	I1481T	possibly damaging	Het
Ighv4-1	A	T	12: 113,948,525 (GRCm38)	L36Q	possibly damaging	Het
Ints1	G	A	5: 139,765,150 (GRCm38)	Q833*	probably null	Het
Myo15	T	C	11: 60,483,466 (GRCm38)	F96L	probably benign	Het
Myom1	G	T	17: 71,092,137 (GRCm38)	R998L	probably damaging	Het
Nacc2	A	G	2: 26,089,948 (GRCm38)	S159P	probably benign	Het
Olfr1128	A	G	2: 87,545,103 (GRCm38)	V147A	probably benign	Het
Olfr178	T	C	16: 58,889,771 (GRCm38)	T150A	probably benign	Het
Olfr873	T	A	9: 20,300,584 (GRCm38)	L128Q	probably damaging	Het
Pbrm1	A	G	14: 31,089,616 (GRCm38)	I1197V	probably damaging	Het
Pde4dip	G	A	3: 97,767,421 (GRCm38)	R60C	probably damaging	Het
Pfkfb4	C	T	9: 109,025,110 (GRCm38)	R351W	probably damaging	Het
Pitpnm1	T	C	19: 4,107,796 (GRCm38)	Y499H	probably damaging	Het
Plekhn1	C	T	4: 156,223,856 (GRCm38)		probably null	Het
Prmt8	A	G	6: 127,690,717 (GRCm38)	Y332H	probably benign	Het
Prpf38a	A	G	4: 108,579,041 (GRCm38)	I25T	possibly damaging	Het
Rusc2	T	C	4: 43,421,685 (GRCm38)	F702L	possibly damaging	Het
Ryr2	A	T	13: 11,741,869 (GRCm38)	I1633K	probably damaging	Het
Slc39a10	G	A	1: 46,818,128 (GRCm38)	A696V	probably damaging	Het
Tkt	T	C	14: 30,571,201 (GRCm38)	V510A	possibly damaging	Het
Tmem106a	C	A	11: 101,590,414 (GRCm38)	N249K	probably damaging	Het
Tmpo	A	T	10: 91,164,136 (GRCm38)	S157T	possibly damaging	Het
Tspan32	A	T	7: 143,015,635 (GRCm38)	I144F	probably damaging	Het
Ufsp2	G	A	8: 45,995,648 (GRCm38)	V429I	probably benign	Het
Unc13c	T	A	9: 73,734,397 (GRCm38)		probably benign	Het
Usp47	A	T	7: 112,106,908 (GRCm38)	K1259M	probably damaging	Het
Zdhhc18	A	T	4: 133,613,635 (GRCm38)		probably benign	Het
Zfp507	G	T	7: 35,776,095 (GRCm38)	L898I	probably damaging	Het

Other mutations in Rpf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00492:Rpf1	APN	3	146,512,247 (GRCm38)	missense	probably benign	0.10
IGL01371:Rpf1	APN	3	146,507,547 (GRCm38)	missense	probably damaging	1.00
IGL01729:Rpf1	APN	3	146,507,149 (GRCm38)	missense	probably damaging	1.00
R0196:Rpf1	UTSW	3	146,508,149 (GRCm38)	missense	possibly damaging	0.86
R1664:Rpf1	UTSW	3	146,512,148 (GRCm38)	missense	probably benign	0.01
R2019:Rpf1	UTSW	3	146,521,221 (GRCm38)	missense	probably damaging	1.00
R3151:Rpf1	UTSW	3	146,507,635 (GRCm38)	missense	probably damaging	1.00
R4989:Rpf1	UTSW	3	146,506,538 (GRCm38)	missense	probably damaging	1.00
R5133:Rpf1	UTSW	3	146,506,538 (GRCm38)	missense	probably damaging	1.00
R5134:Rpf1	UTSW	3	146,506,538 (GRCm38)	missense	probably damaging	1.00
R5172:Rpf1	UTSW	3	146,512,295 (GRCm38)	missense	possibly damaging	0.94
R5383:Rpf1	UTSW	3	146,519,391 (GRCm38)	missense	possibly damaging	0.92
R5525:Rpf1	UTSW	3	146,517,804 (GRCm38)	splice site	silent
R5927:Rpf1	UTSW	3	146,519,463 (GRCm38)	splice site	probably null
R5947:Rpf1	UTSW	3	146,506,544 (GRCm38)	missense	probably damaging	1.00
R7070:Rpf1	UTSW	3	146,512,184 (GRCm38)	missense	probably damaging	1.00
R7311:Rpf1	UTSW	3	146,507,163 (GRCm38)	missense	probably benign	0.42
R8345:Rpf1	UTSW	3	146,507,676 (GRCm38)	missense	probably benign	0.17
R9317:Rpf1	UTSW	3	146,512,261 (GRCm38)	missense	probably benign	0.14
R9406:Rpf1	UTSW	3	146,508,182 (GRCm38)	missense	probably damaging	1.00
R9746:Rpf1	UTSW	3	146,517,778 (GRCm38)	missense	probably damaging	1.00
Y5404:Rpf1	UTSW	3	146,512,836 (GRCm38)	missense	probably damaging	1.00
Y5405:Rpf1	UTSW	3	146,512,836 (GRCm38)	missense	probably damaging	1.00

Posted On

2015-04-16