Mutagenetix > Incidental Mutation

Incidental Mutation 'R2568:Rbks'

254619

Institutional Source

Beutler Lab

Gene Symbol

Rbks

Ensembl Gene

ENSMUSG00000029136

Gene Name

ribokinase

Synonyms

5230400M11Rik

MMRRC Submission

040427-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.343) question?

Stock #

R2568 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31781783-31854971 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31823096 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 107 (T107S)

Ref Sequence

ENSEMBL: ENSMUSP00000031018 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031018] [ENSMUST00000201910]

AlphaFold

Q8R1Q9

Predicted Effect

probably damaging
Transcript: ENSMUST00000031018
AA Change: T107S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031018
Gene: ENSMUSG00000029136
AA Change: T107S

Domain	Start	End	E-Value	Type
Pfam:PfkB	16	315	2.1e-66	PFAM
Pfam:Phos_pyr_kin	166	306	9.6e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183932

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200694

Predicted Effect

probably benign
Transcript: ENSMUST00000201910

SMART Domains

Protein: ENSMUSP00000144669
Gene: ENSMUSG00000106918

Domain	Start	End	E-Value	Type
PDB:4CE4\|6	1	49	9e-15	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202033

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202036

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202690

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the carbohydrate kinase PfkB family. The encoded protein phosphorylates ribose to form ribose-5-phosphate in the presence of ATP and magnesium as a first step in ribose metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730071L15Rik	A	T	11: 6,150,161 (GRCm39)		probably benign	Het
Abca13	A	T	11: 9,283,310 (GRCm39)	N3244I	probably benign	Het
Adgrf5	A	G	17: 43,748,562 (GRCm39)	T219A	probably damaging	Het
Adgrg5	A	T	8: 95,660,649 (GRCm39)	N92I	probably damaging	Het
Agt	A	C	8: 125,283,694 (GRCm39)	V475G	probably damaging	Het
Akap6	A	G	12: 52,934,061 (GRCm39)	K518E	possibly damaging	Het
Apoh	T	G	11: 108,295,697 (GRCm39)	D133E	probably benign	Het
Axdnd1	T	A	1: 156,220,319 (GRCm39)	M234L	possibly damaging	Het
Cacna1d	A	G	14: 29,804,468 (GRCm39)	I1335T	probably damaging	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cfap206	T	A	4: 34,711,566 (GRCm39)	K444*	probably null	Het
Clasp2	A	G	9: 113,707,832 (GRCm39)	I614M	probably benign	Het
Col6a4	A	T	9: 105,940,275 (GRCm39)	D1218E	possibly damaging	Het
Cplane1	T	C	15: 8,230,753 (GRCm39)	V1010A	possibly damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
D130043K22Rik	C	T	13: 25,067,874 (GRCm39)	T870M	probably damaging	Het
Dagla	C	A	19: 10,225,516 (GRCm39)	A883S	probably benign	Het
Dhx30	A	G	9: 109,926,263 (GRCm39)	V87A	probably damaging	Het
Dtx1	C	A	5: 120,848,249 (GRCm39)	V44L	possibly damaging	Het
Ecm2	T	A	13: 49,683,605 (GRCm39)	S528T	possibly damaging	Het
Eeig2	T	A	3: 108,886,164 (GRCm39)	N356I	probably benign	Het
Egfem1	A	T	3: 29,637,080 (GRCm39)	N172I	probably damaging	Het
Fam13a	T	G	6: 58,912,594 (GRCm39)	R686S	probably damaging	Het
Fam243	A	G	16: 92,118,207 (GRCm39)	L27P	probably damaging	Het
Fmo1	T	A	1: 162,663,828 (GRCm39)	I234L	probably benign	Het
Foxj2	C	T	6: 122,805,331 (GRCm39)	R68W	probably damaging	Het
Foxo6	A	T	4: 120,125,961 (GRCm39)	M278K	probably benign	Het
Fsip2	A	G	2: 82,820,775 (GRCm39)	S5503G	probably benign	Het
Gdf5	C	G	2: 155,784,010 (GRCm39)	R100G	probably benign	Het
Il1b	A	T	2: 129,209,242 (GRCm39)	D129E	probably damaging	Het
Klhl29	A	G	12: 5,141,350 (GRCm39)	S545P	probably damaging	Het
Krt87	G	T	15: 101,385,708 (GRCm39)	R296S	possibly damaging	Het
Llgl1	T	G	11: 60,599,638 (GRCm39)	S509R	probably damaging	Het
Lmod1	A	T	1: 135,291,702 (GRCm39)	K186*	probably null	Het
Lrpprc	C	T	17: 85,034,077 (GRCm39)	A973T	probably damaging	Het
Marco	T	C	1: 120,422,514 (GRCm39)	H49R	possibly damaging	Het
Mylk4	T	C	13: 32,906,001 (GRCm39)	N394S	probably null	Het
Myo5a	A	G	9: 75,030,322 (GRCm39)	Y147C	probably damaging	Het
Myo5a	T	C	9: 75,059,179 (GRCm39)	V469A	probably damaging	Het
Myot	A	G	18: 44,470,283 (GRCm39)	T87A	probably benign	Het
Nav2	A	G	7: 49,247,312 (GRCm39)	H2154R	probably damaging	Het
Nek10	A	G	14: 14,999,112 (GRCm38)	E1037G	possibly damaging	Het
Or1j13	T	C	2: 36,369,986 (GRCm39)	D52G	probably damaging	Het
Or52e4	A	G	7: 104,705,878 (GRCm39)	T142A	probably benign	Het
Or5k17	A	G	16: 58,746,286 (GRCm39)	V216A	probably benign	Het
Pitrm1	G	T	13: 6,625,128 (GRCm39)	V869F	probably benign	Het
Plekhm3	CCTGCTGCTGCTGCTGCTGCTGCTGC	CCTGCTGCTGCTGCTGCTGCTGC	1: 64,976,940 (GRCm39)		probably benign	Het
Prdx1	T	G	4: 116,550,997 (GRCm39)	I156S	probably benign	Het
Ryr3	G	A	2: 112,506,219 (GRCm39)	R3468W	probably damaging	Het
Scn1a	C	T	2: 66,103,813 (GRCm39)	D1805N	probably damaging	Het
Sirpa	T	C	2: 129,457,568 (GRCm39)	V214A	probably benign	Het
Slc35c1	T	C	2: 92,289,225 (GRCm39)	N94D	probably benign	Het
Sorbs2	A	T	8: 46,248,407 (GRCm39)	K553*	probably null	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Thg1l	A	G	11: 45,842,392 (GRCm39)	V142A	probably benign	Het
Tiparp	T	A	3: 65,460,551 (GRCm39)	Y513*	probably null	Het
Tmc6	A	G	11: 117,663,646 (GRCm39)	V522A	probably benign	Het
Trim39	T	A	17: 36,580,056 (GRCm39)		probably benign	Het
Trrap	G	A	5: 144,780,179 (GRCm39)		probably null	Het
Tulp3	C	T	6: 128,304,601 (GRCm39)	V218I	probably benign	Het
Vmn1r38	T	A	6: 66,753,955 (GRCm39)	I54F	probably benign	Het
Vmn2r23	T	A	6: 123,719,147 (GRCm39)	Y833*	probably null	Het
Zfp810	A	T	9: 22,190,534 (GRCm39)	S125T	probably benign	Het

Other mutations in Rbks

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02019:Rbks	APN	5	31,817,361 (GRCm39)	missense	probably damaging	1.00
IGL02618:Rbks	APN	5	31,781,863 (GRCm39)	nonsense	probably null
IGL02678:Rbks	APN	5	31,830,757 (GRCm39)	missense	probably damaging	1.00
IGL02719:Rbks	APN	5	31,809,145 (GRCm39)	intron	probably benign
IGL02947:Rbks	APN	5	31,817,407 (GRCm39)	missense	probably benign
R0334:Rbks	UTSW	5	31,781,863 (GRCm39)	nonsense	probably null
R1441:Rbks	UTSW	5	31,817,341 (GRCm39)	missense	probably benign
R4545:Rbks	UTSW	5	31,781,912 (GRCm39)	missense	probably benign	0.10
R4546:Rbks	UTSW	5	31,781,912 (GRCm39)	missense	probably benign	0.10
R4591:Rbks	UTSW	5	31,817,352 (GRCm39)	missense	possibly damaging	0.52
R4833:Rbks	UTSW	5	31,781,859 (GRCm39)	missense	probably benign	0.00
R4967:Rbks	UTSW	5	31,781,876 (GRCm39)	missense	probably damaging	1.00
R5076:Rbks	UTSW	5	31,807,795 (GRCm39)	nonsense	probably null
R5214:Rbks	UTSW	5	31,807,736 (GRCm39)	intron	probably benign
R6051:Rbks	UTSW	5	31,809,163 (GRCm39)	missense	probably damaging	1.00
R6194:Rbks	UTSW	5	31,824,234 (GRCm39)	missense	probably benign	0.05
R6607:Rbks	UTSW	5	31,805,136 (GRCm39)	missense	possibly damaging	0.92
R7246:Rbks	UTSW	5	31,805,127 (GRCm39)	missense	possibly damaging	0.58
R8270:Rbks	UTSW	5	31,807,810 (GRCm39)	intron	probably benign
R9070:Rbks	UTSW	5	31,854,890 (GRCm39)	missense	probably benign	0.02
Z1177:Rbks	UTSW	5	31,805,207 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GCTTCACACATATTAGACAGAGC -3'
(R):5'- AGATGCCCATTTCCTCACTG -3'

Sequencing Primer
(F):5'- ATTTTACAAATGATCAAGGAGGGG -3'
(R):5'- CCATTTCCTCACTGTATAGGTGATGG -3'

Posted On

2014-12-04