Mutagenetix > Incidental Mutation

Incidental Mutation 'R4294:Rpl27-ps3'

323234

Institutional Source

Beutler Lab

Gene Symbol

Rpl27-ps3

Ensembl Gene

ENSMUSG00000073640

Gene Name

ribosomal protein L27, pseudogene 3

Synonyms

Gm6199

MMRRC Submission

041083-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R4294 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6332632-6333042 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 6332607 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000095287 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097682]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000097682

SMART Domains

Protein: ENSMUSP00000095287
Gene: ENSMUSG00000073640

Domain	Start	End	E-Value	Type
KOW	4	31	2.14e-3	SMART
Pfam:Ribosomal_L27e	52	136	1.1e-42	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	A	T	19: 21,576,113 (GRCm39)		probably null	Het
Abca3	A	G	17: 24,619,543 (GRCm39)	I960M	possibly damaging	Het
Bivm	A	T	1: 44,177,793 (GRCm39)	R364S	probably damaging	Het
Bsnd	C	T	4: 106,342,355 (GRCm39)	R271H	probably benign	Het
Cckar	A	G	5: 53,863,839 (GRCm39)	S41P	probably benign	Het
Clip2	A	C	5: 134,521,167 (GRCm39)	V957G	probably benign	Het
Cyp2c55	A	T	19: 39,000,235 (GRCm39)	I145F	probably damaging	Het
Cyp3a11	A	T	5: 145,806,005 (GRCm39)	S121T	probably benign	Het
Dlc1	A	G	8: 37,051,907 (GRCm39)	V608A	possibly damaging	Het
Dlg3	A	T	X: 99,840,288 (GRCm39)		probably benign	Het
Dock3	T	A	9: 106,807,242 (GRCm39)	R1362W	probably damaging	Het
Fhdc1	C	A	3: 84,352,133 (GRCm39)	V1031F	probably benign	Het
Gimap8	A	T	6: 48,635,891 (GRCm39)	H552L	probably benign	Het
Gpr151	T	C	18: 42,711,602 (GRCm39)	T359A	probably benign	Het
Gucy1a1	A	T	3: 82,002,066 (GRCm39)	F671Y	possibly damaging	Het
Kcnv1	G	A	15: 44,977,840 (GRCm39)	T66M	probably damaging	Het
Kif18a	T	C	2: 109,123,398 (GRCm39)	V224A	probably benign	Het
Lbr	C	T	1: 181,648,267 (GRCm39)	C398Y	probably damaging	Het
Magel2	T	G	7: 62,028,515 (GRCm39)	V473G	possibly damaging	Het
Mapkapk3	T	C	9: 107,136,131 (GRCm39)		probably benign	Het
Nat8f1	T	C	6: 85,887,637 (GRCm39)	T108A	probably benign	Het
Nphp3	T	A	9: 103,899,916 (GRCm39)	L502Q	probably damaging	Het
Or2v2	T	A	11: 49,004,254 (GRCm39)	I100L	probably benign	Het
Otud7a	A	G	7: 63,346,939 (GRCm39)	D171G	probably damaging	Het
Pcdhb5	T	A	18: 37,455,734 (GRCm39)	S705T	possibly damaging	Het
Phf14	C	T	6: 11,987,096 (GRCm39)	P559S	probably damaging	Het
Sec16a	A	G	2: 26,312,167 (GRCm39)	Y1998H	probably benign	Het
Setd5	AT	ATT	6: 113,088,281 (GRCm39)		probably benign	Het
Sgsm1	A	G	5: 113,433,270 (GRCm39)	Y182H	probably damaging	Het
Slc22a21	T	C	11: 53,860,329 (GRCm39)	D34G	probably damaging	Het
Spata13	T	A	14: 60,947,004 (GRCm39)	M684K	probably damaging	Het
Srsf6	T	C	2: 162,776,636 (GRCm39)		probably benign	Het
Thrb	C	T	14: 18,011,145 (GRCm38)	Q174*	probably null	Het
Ticam1	A	G	17: 56,578,339 (GRCm39)	I252T	probably benign	Het
Tmem237	A	G	1: 59,158,995 (GRCm39)		probably benign	Het
Trpv1	C	T	11: 73,131,290 (GRCm39)	A276V	probably damaging	Het
Vmn1r192	T	A	13: 22,371,465 (GRCm39)	I252F	probably damaging	Het
Vmn2r74	T	A	7: 85,606,624 (GRCm39)	I241F	probably benign	Het

Other mutations in Rpl27-ps3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1944:Rpl27-ps3	UTSW	18	6,332,669 (GRCm39)	missense	probably damaging	1.00
R4695:Rpl27-ps3	UTSW	18	6,332,922 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GAGCTGTTTGTCCCCTTAGG -3'
(R):5'- ATAGCGGTCAATTCCAGCCAC -3'

Sequencing Primer
(F):5'- CCCCTTAGGAGGATTGTGAGTAC -3'
(R):5'- GTCAATTCCAGCCACCAGGG -3'

Posted On

2015-06-20