Mutagenetix > Incidental Mutation

Incidental Mutation 'R5214:Rbks'

403329

Institutional Source

Beutler Lab

Gene Symbol

Rbks

Ensembl Gene

ENSMUSG00000029136

Gene Name

ribokinase

Synonyms

5230400M11Rik

MMRRC Submission

042787-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.307) question?

Stock #

R5214 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31781783-31854971 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 31807736 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000031018 (fasta)

Gene Model

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

AlphaFold

Q8R1Q9

Predicted Effect

probably benign
Transcript: ENSMUST00000031018

SMART Domains

Protein: ENSMUSP00000031018
Gene: ENSMUSG00000029136

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: ENSMUST00000145264
AA Change: D118G

Predicted Effect

unknown
Transcript: ENSMUST00000152261
AA Change: T80A

SMART Domains

Protein: ENSMUSP00000116693
Gene: ENSMUSG00000029142
AA Change: T80A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200694

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201719

Predicted Effect

unknown
Transcript: ENSMUST00000201910
AA Change: T80A

SMART Domains

Protein: ENSMUSP00000144669
Gene: ENSMUSG00000106918
AA Change: T80A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201999

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202243

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202033

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (77/77)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061I17Rik	A	G	3: 116,861,424 (GRCm39)		noncoding transcript	Het
4930449A18Rik	A	T	3: 59,733,305 (GRCm39)		noncoding transcript	Het
Acsbg3	T	C	17: 57,193,493 (GRCm39)	V613A	probably benign	Het
Adgrl1	G	A	8: 84,642,202 (GRCm39)		probably null	Het
Aldh1l1	A	G	6: 90,540,399 (GRCm39)	D228G	probably damaging	Het
Ankrd17	T	C	5: 90,431,319 (GRCm39)	I822V	possibly damaging	Het
Atm	C	A	9: 53,402,327 (GRCm39)	A1382S	probably benign	Het
Bltp3a	G	A	17: 28,106,489 (GRCm39)	S1005N	probably benign	Het
Cacna1e	T	A	1: 154,577,110 (GRCm39)	I96F	possibly damaging	Het
Calhm5	A	G	10: 33,968,487 (GRCm39)	S189P	probably damaging	Het
Ccar1	G	A	10: 62,606,740 (GRCm39)	R335C	probably damaging	Het
Ccdc113	T	C	8: 96,272,601 (GRCm39)	I236T	possibly damaging	Het
Ccdc14	T	A	16: 34,525,225 (GRCm39)	S125T	probably benign	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Cdon	T	C	9: 35,394,504 (GRCm39)	C917R	probably damaging	Het
Ckap2l	T	C	2: 129,127,389 (GRCm39)	D263G	probably benign	Het
Cntnap3	G	T	13: 64,909,824 (GRCm39)	H760Q	probably damaging	Het
Dennd2d	G	A	3: 106,393,637 (GRCm39)		probably null	Het
Dock4	A	G	12: 40,754,465 (GRCm39)	I485V	probably benign	Het
Dspp	A	G	5: 104,326,364 (GRCm39)	D909G	unknown	Het
Eps8	A	T	6: 137,504,490 (GRCm39)	M81K	probably damaging	Het
Fras1	T	C	5: 96,917,452 (GRCm39)	S3491P	probably damaging	Het
Gm17669	C	T	18: 67,695,479 (GRCm39)	T8I	possibly damaging	Het
Gm5114	G	T	7: 39,057,792 (GRCm39)	T609K	probably benign	Het
Gm973	A	G	1: 59,565,880 (GRCm39)	N32S	probably damaging	Het
Herpud1	G	T	8: 95,117,479 (GRCm39)		probably null	Het
Jcad	T	A	18: 4,674,134 (GRCm39)	L632Q	probably damaging	Het
Kcnh8	T	C	17: 53,205,486 (GRCm39)	L527S	probably damaging	Het
Klk1b11	C	A	7: 43,647,266 (GRCm39)	H67N	probably benign	Het
Ldhb	T	A	6: 142,441,321 (GRCm39)	I190F	probably damaging	Het
Lrrc34	A	T	3: 30,690,397 (GRCm39)	C168*	probably null	Het
Lrtm1	C	T	14: 28,743,651 (GRCm39)	H40Y	possibly damaging	Het
Mageb3	T	C	2: 121,785,319 (GRCm39)	M128V	possibly damaging	Het
Miga2	A	G	2: 30,261,208 (GRCm39)	T90A	probably benign	Het
Msantd5	C	A	11: 51,125,675 (GRCm39)	H199Q	possibly damaging	Het
Ndrg1	G	A	15: 66,831,239 (GRCm39)	T24I	probably damaging	Het
Nos2	T	C	11: 78,846,267 (GRCm39)	L878P	probably damaging	Het
Or11g27	T	G	14: 50,771,804 (GRCm39)	*312E	probably null	Het
Pcdhgb1	T	A	18: 37,814,478 (GRCm39)	I323N	probably damaging	Het
Plec	A	G	15: 76,061,921 (GRCm39)	I2537T	probably damaging	Het
Pnpo	C	A	11: 96,833,295 (GRCm39)	E68D	probably benign	Het
Ppp6r1	C	T	7: 4,646,176 (GRCm39)	R175Q	probably benign	Het
Prnp	C	T	2: 131,778,924 (GRCm39)	T192I	probably damaging	Het
Ptprb	T	C	10: 116,205,229 (GRCm39)	I2148T	possibly damaging	Het
Raf1	G	T	6: 115,614,583 (GRCm39)	F99L	possibly damaging	Het
Rlf	T	C	4: 121,007,897 (GRCm39)	D361G	probably damaging	Het
Rnpepl1	G	T	1: 92,847,001 (GRCm39)	D608Y	probably benign	Het
Scaf1	G	A	7: 44,652,662 (GRCm39)		probably benign	Het
Sh3rf1	A	T	8: 61,825,765 (GRCm39)	M587L	probably damaging	Het
Slc22a21	A	T	11: 53,843,869 (GRCm39)	S473T	probably damaging	Het
Syt15	A	G	14: 33,943,703 (GRCm39)	D84G	possibly damaging	Het
Tbc1d19	T	C	5: 54,007,183 (GRCm39)	L236P	probably benign	Het
Tbx2	G	T	11: 85,729,263 (GRCm39)	A549S	probably benign	Het
Tc2n	A	T	12: 101,659,461 (GRCm39)	C157*	probably null	Het
Tecta	C	T	9: 42,256,964 (GRCm39)	V1571I	probably benign	Het
Them4	A	G	3: 94,224,818 (GRCm39)	K65R	probably benign	Het
Tmc5	C	T	7: 118,247,155 (GRCm39)	T553M	probably damaging	Het
Tmem200c	C	T	17: 69,148,122 (GRCm39)	A235V	probably damaging	Het
Tmem8b	G	A	4: 43,673,992 (GRCm39)	V208I	probably benign	Het
Tmf1	G	C	6: 97,144,253 (GRCm39)	A701G	possibly damaging	Het
Tomm70a	G	A	16: 56,942,300 (GRCm39)	G26S	unknown	Het
Treh	T	C	9: 44,594,173 (GRCm39)	Y140H	probably damaging	Het
Ttc28	A	G	5: 111,325,489 (GRCm39)		probably benign	Het
Uba7	T	C	9: 107,854,713 (GRCm39)		probably benign	Het
Ube4a	T	C	9: 44,860,166 (GRCm39)	I299V	probably benign	Het
Zfhx4	A	C	3: 5,468,701 (GRCm39)	K2953T	probably damaging	Het
Zfp280d	T	A	9: 72,215,395 (GRCm39)		probably benign	Het
Zscan20	G	A	4: 128,482,109 (GRCm39)	R518C	probably benign	Het
Zw10	T	C	9: 48,975,463 (GRCm39)	I296T	possibly damaging	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
R2568:Rbks	UTSW	5	31,823,096 (GRCm39)	missense	probably damaging	0.99
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
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'- TCTGAAATCTCTATCAATACCCCTGAC -3'
(R):5'- TCAGACAGTTTTCACAGCCC -3'

Sequencing Primer
(F):5'- AATACCCCTGACCCTGTGTG -3'
(R):5'- CAGCCCAAATGTTTATTCAGCTCATG -3'

Posted On

2016-07-22