Mutagenetix > Incidental Mutation

Incidental Mutation 'R6373:Rpe'

513611

Institutional Source

Beutler Lab

Gene Symbol

Rpe

Ensembl Gene

ENSMUSG00000026005

Gene Name

ribulose-5-phosphate-3-epimerase

Synonyms

5730518J08Rik, 2810429B02Rik

MMRRC Submission

044523-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6373 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66739990-66758964 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66755139 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 174 (F174L)

Ref Sequence

ENSEMBL: ENSMUSP00000109628 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027157] [ENSMUST00000068168] [ENSMUST00000113995] [ENSMUST00000142920] [ENSMUST00000151016] [ENSMUST00000190404]

AlphaFold

Q8VEE0

Predicted Effect

probably benign
Transcript: ENSMUST00000027157
AA Change: F167L

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000027157
Gene: ENSMUSG00000026005
AA Change: F167L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000068168

SMART Domains

Protein: ENSMUSP00000063843
Gene: ENSMUSG00000026004

Domain	Start	End	E-Value	Type
low complexity region	340	355	N/A	INTRINSIC
low complexity region	491	507	N/A	INTRINSIC
low complexity region	518	535	N/A	INTRINSIC
PEHE	755	875	2.42e-33	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113995
AA Change: F174L

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000109628
Gene: ENSMUSG00000026005
AA Change: F174L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000129190

SMART Domains

Protein: ENSMUSP00000118603
Gene: ENSMUSG00000026004

Domain	Start	End	E-Value	Type
low complexity region	31	46	N/A	INTRINSIC
low complexity region	147	163	N/A	INTRINSIC
low complexity region	174	191	N/A	INTRINSIC
PEHE	455	575	2.42e-33	SMART

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

probably benign
Transcript: ENSMUST00000151016

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

Meta Mutation Damage Score

0.1614

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

95% (37/39)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd13	T	C	8: 10,038,240 (GRCm39)	L279P	probably damaging	Het
Aldh16a1	C	G	7: 44,795,695 (GRCm39)	V373L	probably benign	Het
Btn2a2	T	C	13: 23,665,999 (GRCm39)	K278E	probably benign	Het
Carns1	G	T	19: 4,216,515 (GRCm39)	Q556K	probably benign	Het
Chd1	A	T	17: 15,958,898 (GRCm39)	E650V	probably damaging	Het
Cobl	A	G	11: 12,203,118 (GRCm39)	S1195P	probably damaging	Het
Deup1	T	C	9: 15,472,638 (GRCm39)	H464R	probably damaging	Het
Eva1a	T	C	6: 82,068,847 (GRCm39)	L58S	probably damaging	Het
Fign	A	C	2: 63,809,989 (GRCm39)	M427R	probably benign	Het
Gm6309	A	T	5: 146,107,085 (GRCm39)	I87N	probably damaging	Het
H2ac7	A	G	13: 23,759,027 (GRCm39)	K128R	probably benign	Het
Helz	A	G	11: 107,486,010 (GRCm39)	T140A	probably benign	Het
Helz2	C	T	2: 180,875,260 (GRCm39)	E1745K	probably damaging	Het
Kif16b	A	T	2: 142,541,618 (GRCm39)	H1227Q	possibly damaging	Het
Mab21l1	A	T	3: 55,690,505 (GRCm39)	I31F	possibly damaging	Het
Mex3c	T	C	18: 73,723,065 (GRCm39)	M386T	probably benign	Het
Myh11	T	A	16: 14,022,994 (GRCm39)	I1644F	possibly damaging	Het
Nav2	C	T	7: 49,102,923 (GRCm39)	P513S	probably damaging	Het
Ncoa3	C	T	2: 165,901,267 (GRCm39)	S953F	possibly damaging	Het
Nmt2	A	G	2: 3,325,988 (GRCm39)	T462A	probably benign	Het
Nrxn2	T	C	19: 6,559,860 (GRCm39)	I163T	probably damaging	Het
Nrxn3	G	C	12: 89,943,237 (GRCm39)	G122R	probably damaging	Het
Or1e26	A	G	11: 73,479,724 (GRCm39)	V280A	probably benign	Het
Or5d20-ps1	T	C	2: 87,932,189 (GRCm39)	I47M	possibly damaging	Het
Parg	T	G	14: 31,931,454 (GRCm39)		probably null	Het
Pcdhb7	T	A	18: 37,475,264 (GRCm39)	C133*	probably null	Het
Ppihl	A	G	5: 44,070,893 (GRCm39)	T127A	probably damaging	Het
Rigi	A	G	4: 40,216,487 (GRCm39)	Y504H	possibly damaging	Het
Rxrb	A	G	17: 34,252,533 (GRCm39)	N40S	probably benign	Het
Ryr3	C	A	2: 112,486,889 (GRCm39)	G3840W	probably damaging	Het
Smurf2	A	G	11: 106,724,595 (GRCm39)	L529P	probably damaging	Het
Sntg2	C	T	12: 30,308,040 (GRCm39)	R215H	probably benign	Het
Spata20	A	G	11: 94,374,226 (GRCm39)	V348A	probably benign	Het
Spink5	A	G	18: 44,123,739 (GRCm39)	E342G	probably damaging	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Syce1l	T	A	8: 114,376,143 (GRCm39)	M31K	probably benign	Het
Ttn	C	T	2: 76,618,960 (GRCm39)	V14394I	probably damaging	Het
Twnk	G	A	19: 44,997,820 (GRCm39)	V450M	probably damaging	Het
Vangl1	T	C	3: 102,065,764 (GRCm39)	K407R	probably benign	Het
Vmn1r19	T	C	6: 57,382,317 (GRCm39)	I290T	unknown	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
R8447:Rpe	UTSW	1	66,740,188 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TATGCTTAGTCTATTGAAGTGACCCC -3'
(R):5'- GCTAGTTAGTGACTCACTTGTCC -3'

Sequencing Primer
(F):5'- GAAGTGACCCCCAGTAATGTCTTG -3'
(R):5'- AGTTAGTGACTCACTTGTCCTTTAC -3'

Posted On

2018-04-27