Mutagenetix > Incidental Mutation

Incidental Mutation 'R9507:Rpia'

717870

Institutional Source

Beutler Lab

Gene Symbol

Rpia

Ensembl Gene

ENSMUSG00000053604

Gene Name

ribose 5-phosphate isomerase A

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9507 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70742704-70769159 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 70754377 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 134 (Q134*)

Ref Sequence

ENSEMBL: ENSMUSP00000064158 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066134]

AlphaFold

P47968

Predicted Effect

probably null
Transcript: ENSMUST00000066134
AA Change: Q134*

SMART Domains

Protein: ENSMUSP00000064158
Gene: ENSMUSG00000053604
AA Change: Q134*

Domain	Start	End	E-Value	Type
low complexity region	16	38	N/A	INTRINSIC
low complexity region	56	66	N/A	INTRINSIC
Pfam:Rib_5-P_isom_A	120	294	7.3e-65	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an enzyme, which catalyzes the reversible conversion between ribose-5-phosphate and ribulose-5-phosphate in the pentose-phosphate pathway. This gene is highly conserved in most organisms. The enzyme plays an essential role in the carbohydrate metabolism. Mutations in this gene cause ribose 5-phosphate isomerase deficiency. A pseudogene is found on chromosome 18. [provided by RefSeq, Mar 2010]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009A15Rik	A	G	19: 8,866,587 (GRCm39)	T47A	probably damaging	Het
Acsm2	A	T	7: 119,179,939 (GRCm39)	I386F	probably benign	Het
Actn4	A	T	7: 28,606,397 (GRCm39)	D305E	probably benign	Het
Anln	A	G	9: 22,274,136 (GRCm39)	V567A	probably damaging	Het
Arhgap35	A	G	7: 16,297,343 (GRCm39)	I574T	probably benign	Het
Baz1b	C	A	5: 135,233,971 (GRCm39)	S166Y	probably damaging	Het
Ccdc191	T	C	16: 43,764,192 (GRCm39)	L551P	probably damaging	Het
Cdk5rap2	T	C	4: 70,210,110 (GRCm39)	T713A	probably benign	Het
Cep290	C	A	10: 100,330,785 (GRCm39)	A155E	possibly damaging	Het
Chst8	G	A	7: 34,447,496 (GRCm39)	Q41*	probably null	Het
Cyp2j6	C	A	4: 96,406,344 (GRCm39)	E476*	probably null	Het
Des	T	C	1: 75,343,434 (GRCm39)	V439A	probably benign	Het
Dimt1	A	G	13: 107,093,656 (GRCm39)	T283A	probably benign	Het
Dmxl1	T	A	18: 50,024,567 (GRCm39)	V1747D	possibly damaging	Het
Fhod1	G	A	8: 106,064,694 (GRCm39)	R137*	probably null	Het
Gab2	A	T	7: 96,953,448 (GRCm39)	D608V	probably damaging	Het
Gdpd1	T	C	11: 86,950,264 (GRCm39)	D103G	possibly damaging	Het
Hspa5	T	C	2: 34,664,610 (GRCm39)	S355P	probably benign	Het
Ide	A	T	19: 37,265,536 (GRCm39)	F619L		Het
Ifrd1	A	C	12: 40,267,225 (GRCm39)	D70E	probably benign	Het
Il18r1	T	A	1: 40,513,884 (GRCm39)	V30E	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kcng1	A	G	2: 168,111,152 (GRCm39)	L4S	probably damaging	Het
Lrfn4	A	G	19: 4,664,357 (GRCm39)	F59S	probably damaging	Het
Lrrc15	T	C	16: 30,092,829 (GRCm39)	D170G	probably damaging	Het
Mettl21e	T	A	1: 44,245,536 (GRCm39)	M237L	probably benign	Het
Myh1	A	G	11: 67,102,049 (GRCm39)	K810E	probably benign	Het
Nbea	T	C	3: 55,573,011 (GRCm39)	D2524G	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nutm2	A	T	13: 50,621,455 (GRCm39)	T7S	probably benign	Het
Or10g3b	A	T	14: 52,586,678 (GRCm39)	L275H	probably damaging	Het
Or2a5	G	T	6: 42,873,835 (GRCm39)	C150F	probably benign	Het
Or2t49	T	C	11: 58,392,576 (GRCm39)	T275A	possibly damaging	Het
Or51q1	T	G	7: 103,629,198 (GRCm39)	F266L	probably damaging	Het
Or6k2	T	A	1: 173,986,552 (GRCm39)	I71K	possibly damaging	Het
Or7a39	A	G	10: 78,715,597 (GRCm39)	H197R	probably benign	Het
Pate4	A	G	9: 35,519,538 (GRCm39)	S51P	probably damaging	Het
Rbm19	T	C	5: 120,265,232 (GRCm39)		probably null	Het
Rnf139	A	G	15: 58,770,664 (GRCm39)	K230E	probably damaging	Het
Rsf1	GC	GCGGCGGCGCC	7: 97,229,141 (GRCm39)		probably benign	Het
Sbk2	G	A	7: 4,960,277 (GRCm39)	P298S	possibly damaging	Het
Scrt1	A	G	15: 76,403,292 (GRCm39)	S233P	unknown	Het
Sh2b1	CGGGGACCAGCTC	CGGGGACCAGCTCAGCCAAGGGGACCAGCTC	7: 126,066,760 (GRCm39)		probably benign	Het
Sppl2c	T	A	11: 104,078,153 (GRCm39)	Y318N	probably benign	Het
St6galnac4	G	A	2: 32,485,739 (GRCm39)	W215*	probably null	Het
Stxbp6	A	G	12: 45,066,360 (GRCm39)	L15P	probably benign	Het
Tmem104	T	C	11: 115,091,699 (GRCm39)	L74P	probably damaging	Het
Tnfrsf10b	A	G	14: 70,015,221 (GRCm39)	D233G	probably benign	Het
Trmt11	A	C	10: 30,434,938 (GRCm39)	Y369*	probably null	Het
Tusc1	T	A	4: 93,223,245 (GRCm39)	H138L	probably benign	Het
Ush2a	T	A	1: 188,596,937 (GRCm39)	Y3892*	probably null	Het
Xirp2	A	T	2: 67,344,280 (GRCm39)	I2174F	possibly damaging	Het
Zfp947	C	T	17: 22,364,582 (GRCm39)	G364D	probably benign	Het

Other mutations in Rpia

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00916:Rpia	APN	6	70,752,086 (GRCm39)	splice site	probably benign
R1228:Rpia	UTSW	6	70,768,880 (GRCm39)	missense	probably benign	0.10
R4629:Rpia	UTSW	6	70,743,578 (GRCm39)	missense	possibly damaging	0.46
R5249:Rpia	UTSW	6	70,760,563 (GRCm39)	nonsense	probably null
R6302:Rpia	UTSW	6	70,750,485 (GRCm39)	missense	probably damaging	0.96
R6772:Rpia	UTSW	6	70,762,532 (GRCm39)	missense	probably benign	0.08
R6932:Rpia	UTSW	6	70,750,424 (GRCm39)	missense	probably benign	0.00
R7718:Rpia	UTSW	6	70,743,602 (GRCm39)	missense	probably damaging	1.00
R8282:Rpia	UTSW	6	70,748,002 (GRCm39)	missense	possibly damaging	0.78
R8517:Rpia	UTSW	6	70,743,630 (GRCm39)	missense	possibly damaging	0.74

Predicted Primers

PCR Primer
(F):5'- AGCTGGAGCCCATGAACAAC -3'
(R):5'- TCAGCATTGCTCTTCATGGG -3'

Sequencing Primer
(F):5'- GCTGGAGCCCATGAACAACTATAAG -3'
(R):5'- GGCTAGATCTCCCACGTACTG -3'

Posted On

2022-07-18