Mutagenetix > Incidental Mutation

Incidental Mutation 'R8447:Rpe'

654525

Institutional Source

Beutler Lab

Gene Symbol

Rpe

Ensembl Gene

ENSMUSG00000026005

Gene Name

ribulose-5-phosphate-3-epimerase

Synonyms

5730518J08Rik, 2810429B02Rik

MMRRC Submission

067902-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8447 (G1)

Quality Score

162.009

Status

Not validated

Chromosome

Chromosomal Location

66739990-66758964 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 66740188 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027157 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027157] [ENSMUST00000061620] [ENSMUST00000113995] [ENSMUST00000142920] [ENSMUST00000151016] [ENSMUST00000190404]

AlphaFold

Q8VEE0

Predicted Effect

probably null
Transcript: ENSMUST00000027157

SMART Domains

Protein: ENSMUSP00000027157
Gene: ENSMUSG00000026005

Domain	Start	End	E-Value	Type
Pfam:Ribul_P_3_epim	6	204	1.3e-70	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000061620

SMART Domains

Protein: ENSMUSP00000053692
Gene: ENSMUSG00000055567

Domain	Start	End	E-Value	Type
Pfam:UNC80	16	236	2.2e-94	PFAM
low complexity region	372	385	N/A	INTRINSIC
low complexity region	493	502	N/A	INTRINSIC
low complexity region	693	711	N/A	INTRINSIC
low complexity region	723	738	N/A	INTRINSIC
low complexity region	739	769	N/A	INTRINSIC
low complexity region	1038	1055	N/A	INTRINSIC
low complexity region	1067	1084	N/A	INTRINSIC
low complexity region	1309	1328	N/A	INTRINSIC
low complexity region	1477	1489	N/A	INTRINSIC
low complexity region	1676	1681	N/A	INTRINSIC
low complexity region	1842	1848	N/A	INTRINSIC
low complexity region	1854	1868	N/A	INTRINSIC
low complexity region	2461	2480	N/A	INTRINSIC
low complexity region	2726	2740	N/A	INTRINSIC
low complexity region	3121	3144	N/A	INTRINSIC
low complexity region	3245	3254	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113995

SMART Domains

Protein: ENSMUSP00000109628
Gene: ENSMUSG00000026005

Domain	Start	End	E-Value	Type
Pfam:Ribul_P_3_epim	6	208	1.1e-61	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142920

SMART Domains

Protein: ENSMUSP00000137941
Gene: ENSMUSG00000026005

Domain	Start	End	E-Value	Type
Pfam:Ribul_P_3_epim	6	49	3.6e-8	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000151016

Predicted Effect

probably benign
Transcript: ENSMUST00000152844

SMART Domains

Protein: ENSMUSP00000117070
Gene: ENSMUSG00000055567

Domain	Start	End	E-Value	Type
low complexity region	76	99	N/A	INTRINSIC
low complexity region	200	209	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000190404

SMART Domains

Protein: ENSMUSP00000140257
Gene: ENSMUSG00000026005

Domain	Start	End	E-Value	Type
Pfam:Ribul_P_3_epim	6	45	1.8e-4	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	C	5: 8,957,278 (GRCm39)	T136P	probably damaging	Het
Abcc3	A	T	11: 94,254,886 (GRCm39)	L639Q	possibly damaging	Het
Adam10	T	A	9: 70,655,400 (GRCm39)	N289K	probably damaging	Het
Akap12	A	G	10: 4,306,289 (GRCm39)	E1138G	probably benign	Het
Akr1e1	C	A	13: 4,648,793 (GRCm39)	L167F	probably damaging	Het
Cars1	T	C	7: 143,123,766 (GRCm39)	K506E	possibly damaging	Het
Castor1	T	C	11: 4,170,165 (GRCm39)	V81A	probably damaging	Het
Cfap46	C	A	7: 139,260,902 (GRCm39)	R65S	possibly damaging	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Clec16a	C	A	16: 10,559,487 (GRCm39)	T920K	probably benign	Het
Coro2b	C	T	9: 62,333,842 (GRCm39)	E351K	probably damaging	Het
Diablo	T	C	5: 123,655,829 (GRCm39)	E163G	probably damaging	Het
Dnah6	A	G	6: 73,115,757 (GRCm39)	L1547P	probably damaging	Het
Dynll2	G	T	11: 87,874,719 (GRCm39)	D37E	probably benign	Het
Eml4	A	T	17: 83,755,656 (GRCm39)	Q408L	probably damaging	Het
F2rl3	T	C	8: 73,489,963 (GRCm39)	*397R	probably null	Het
Fance	T	A	17: 28,545,155 (GRCm39)	L127Q	unknown	Het
Fat4	T	C	3: 39,033,824 (GRCm39)	V2492A	possibly damaging	Het
Ggta1	C	T	2: 35,292,573 (GRCm39)	D245N	probably damaging	Het
Gli1	T	C	10: 127,166,106 (GRCm39)	N1049S	probably benign	Het
Grin2c	A	G	11: 115,148,215 (GRCm39)	V354A	probably benign	Het
Kank4	T	A	4: 98,666,729 (GRCm39)	I573F	probably damaging	Het
Kdm3a	A	G	6: 71,588,881 (GRCm39)	V376A	probably benign	Het
Kndc1	T	C	7: 139,481,121 (GRCm39)	V69A	probably damaging	Het
Lcmt1	T	A	7: 123,020,825 (GRCm39)	L250Q	probably damaging	Het
Ldhb	A	T	6: 142,444,356 (GRCm39)	V99D	probably damaging	Het
Lepr	T	C	4: 101,671,688 (GRCm39)	V904A	probably benign	Het
Lipe	G	T	7: 25,080,017 (GRCm39)	N710K	probably damaging	Het
Med1	C	A	11: 98,060,240 (GRCm39)	D230Y	probably damaging	Het
Mpv17l	T	A	16: 13,758,864 (GRCm39)	I96K	probably benign	Het
Obox1	A	T	7: 15,289,541 (GRCm39)	Q110L	probably damaging	Het
Or11h6	T	C	14: 50,880,008 (GRCm39)	V84A	probably benign	Het
Or4f4b	T	A	2: 111,314,101 (GRCm39)	Y137N	probably damaging	Het
Or4k37	T	A	2: 111,159,307 (GRCm39)	I181N	possibly damaging	Het
Or5t16	T	A	2: 86,818,885 (GRCm39)	I212F	probably benign	Het
Or6c76	T	G	10: 129,612,371 (GRCm39)	M211R	possibly damaging	Het
Or9s14	C	A	1: 92,535,494 (GRCm39)		probably benign	Het
Pah	T	C	10: 87,417,827 (GRCm39)		probably null	Het
Pate1	A	T	9: 35,597,631 (GRCm39)	N40K	probably benign	Het
Pclo	C	A	5: 14,731,423 (GRCm39)	D182E		Het
Prl7a2	A	T	13: 27,849,941 (GRCm39)	S44T	possibly damaging	Het
Pwp2	T	A	10: 78,007,873 (GRCm39)	D894V	probably benign	Het
Ripor2	T	A	13: 24,907,771 (GRCm39)	L1014Q	probably damaging	Het
Sh2d3c	A	G	2: 32,642,671 (GRCm39)	T706A	probably damaging	Het
Slc34a1	T	C	13: 24,006,309 (GRCm39)	F445S	possibly damaging	Het
Spata20	C	A	11: 94,373,080 (GRCm39)	L515F	probably damaging	Het
Tcf20	G	A	15: 82,737,437 (GRCm39)	S1338F	possibly damaging	Het
Tm9sf2	C	A	14: 122,377,180 (GRCm39)	P236Q	probably damaging	Het
Tmem135	T	C	7: 88,803,240 (GRCm39)	Y311C	probably damaging	Het
Tmem245	T	C	4: 56,906,261 (GRCm39)	Q548R	probably benign	Het
Tmem94	G	T	11: 115,688,023 (GRCm39)	C1190F	possibly damaging	Het
Tmem94	G	A	11: 115,688,696 (GRCm39)	R1301H	probably benign	Het
Zp3	G	A	5: 136,013,244 (GRCm39)	G192E	probably damaging	Het

Other mutations in Rpe

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01098:Rpe	APN	1	66,745,674 (GRCm39)	missense	probably benign
R0507:Rpe	UTSW	1	66,754,300 (GRCm39)	missense	probably benign	0.04
R0742:Rpe	UTSW	1	66,754,300 (GRCm39)	missense	probably benign	0.04
R1545:Rpe	UTSW	1	66,740,169 (GRCm39)	missense	probably damaging	1.00
R1808:Rpe	UTSW	1	66,754,356 (GRCm39)	missense	probably benign	0.26
R2118:Rpe	UTSW	1	66,754,387 (GRCm39)	missense	probably damaging	1.00
R2119:Rpe	UTSW	1	66,754,387 (GRCm39)	missense	probably damaging	1.00
R2120:Rpe	UTSW	1	66,754,387 (GRCm39)	missense	probably damaging	1.00
R2122:Rpe	UTSW	1	66,754,387 (GRCm39)	missense	probably damaging	1.00
R2126:Rpe	UTSW	1	66,755,139 (GRCm39)	missense	possibly damaging	0.95
R5549:Rpe	UTSW	1	66,755,163 (GRCm39)	missense	probably damaging	1.00
R5556:Rpe	UTSW	1	66,745,625 (GRCm39)	missense	probably damaging	1.00
R6238:Rpe	UTSW	1	66,740,807 (GRCm39)	nonsense	probably null
R6373:Rpe	UTSW	1	66,755,139 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- AGCCAGAAGATCCTTGGAAATCC -3'
(R):5'- TATCACCACAGGTTACGGGG -3'

Sequencing Primer
(F):5'- AGAAGCTCTGCACCTGGCTC -3'
(R):5'- ACAGGTTACGGGGTGGCG -3'

Posted On

2020-10-20