Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01635:Rpl27rt'

92960

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rpl27rt

Ensembl Gene

ENSMUSG00000078240

Gene Name

ribosomal protein L29, retrotransposed

Synonyms

Gm3550

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01635

Quality Score

Status

Chromosome

Chromosomal Location

34870421-34871067 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34870795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 110 (M110L)

Ref Sequence

ENSEMBL: ENSMUSP00000100655 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060710] [ENSMUST00000105038]

AlphaFold

W4VSN7

Predicted Effect

probably benign
Transcript: ENSMUST00000060710

SMART Domains

Protein: ENSMUSP00000055427
Gene: ENSMUSG00000044201

Domain	Start	End	E-Value	Type
low complexity region	246	257	N/A	INTRINSIC
RHOD	284	398	3.71e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105038
AA Change: M110L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000100655
Gene: ENSMUSG00000078240
AA Change: M110L

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L29e	3	42	1.4e-31	PFAM
low complexity region	124	160	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	A	G	16: 8,431,910 (GRCm39)	I396V	probably benign	Het
Bag2	T	A	1: 33,786,013 (GRCm39)	N103I	possibly damaging	Het
Cfap95	T	C	19: 23,536,379 (GRCm39)	Y176C	probably damaging	Het
Chd1	T	C	17: 17,598,858 (GRCm39)	S107P	probably damaging	Het
Chd3	A	T	11: 69,252,076 (GRCm39)		probably benign	Het
Cytip	T	C	2: 58,038,243 (GRCm39)	E106G	probably damaging	Het
Dcp1b	T	A	6: 119,183,498 (GRCm39)	I195N	probably damaging	Het
Ddhd1	C	A	14: 45,867,037 (GRCm39)	V322F	probably null	Het
Esrrg	A	T	1: 187,930,797 (GRCm39)	D296V	probably damaging	Het
F5	A	G	1: 164,035,427 (GRCm39)	K1867R	probably benign	Het
Gm10717	C	A	9: 3,025,511 (GRCm39)	A32D	probably damaging	Het
Gm10717	C	A	9: 3,025,506 (GRCm39)	F30L	possibly damaging	Het
Gstt1	G	T	10: 75,629,951 (GRCm39)	T54K	probably damaging	Het
Ighmbp2	C	T	19: 3,317,265 (GRCm39)	V536I	possibly damaging	Het
Mphosph8	A	T	14: 56,910,003 (GRCm39)	R119W	probably damaging	Het
Negr1	A	G	3: 156,267,929 (GRCm39)	D33G	probably benign	Het
Or2l13b	A	G	16: 19,348,845 (GRCm39)	V275A	probably benign	Het
Or7d10	A	T	9: 19,831,780 (GRCm39)	I92L	probably damaging	Het
Plbd2	T	C	5: 120,637,114 (GRCm39)	D116G	probably damaging	Het
Pold1	A	T	7: 44,185,401 (GRCm39)	V733E	probably damaging	Het
Prorsd1	T	A	11: 29,463,467 (GRCm39)	K98N	probably benign	Het
Rasal2	G	T	1: 156,991,394 (GRCm39)	L611I	probably damaging	Het
Rffl	G	A	11: 82,703,378 (GRCm39)	R147C	probably benign	Het
Sdad1	A	G	5: 92,445,019 (GRCm39)	M315T	probably damaging	Het
Shprh	T	A	10: 11,045,763 (GRCm39)	Y861*	probably null	Het
Six4	G	A	12: 73,155,971 (GRCm39)	A324V	probably benign	Het
Stab2	T	C	10: 86,816,992 (GRCm39)	D135G	probably benign	Het
Tada3	T	C	6: 113,352,973 (GRCm39)	H12R	probably benign	Het
Zap70	A	G	1: 36,810,238 (GRCm39)	D116G	probably damaging	Het

Other mutations in Rpl27rt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4651001:Rpl27rt	UTSW	18	34,870,892 (GRCm39)	missense	unknown
R7448:Rpl27rt	UTSW	18	34,870,580 (GRCm39)	missense	probably damaging	0.99
R8057:Rpl27rt	UTSW	18	34,870,582 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-09