Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02723:Rpl13a-ps1'

305061

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rpl13a-ps1

Ensembl Gene

ENSMUSG00000062083

Gene Name

ribosomal protein 13A, pseudogene 1

Synonyms

Gm5520

Accession Numbers

Essential gene?

Probably essential (E-score: 0.911) question?

Stock #

IGL02723

Quality Score

Status

Chromosome

Chromosomal Location

50018563-50019174 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 50019111 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 22 (I22F)

Ref Sequence

ENSEMBL: ENSMUSP00000071763 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071866]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071866
AA Change: I22F

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000071763
Gene: ENSMUSG00000062083
AA Change: I22F

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L13	5	118	1.9e-8	PFAM

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
Capn9	A	T	8: 125,335,922 (GRCm39)		probably benign	Het
Cchcr1	A	C	17: 35,841,699 (GRCm39)	K761Q	probably benign	Het
Cfap20dc	T	C	14: 8,516,507 (GRCm38)	N347S	probably benign	Het
Csk	G	T	9: 57,538,672 (GRCm39)		probably benign	Het
Cyp2j7	T	C	4: 96,118,366 (GRCm39)	K76E	probably benign	Het
Dpep1	G	A	8: 123,920,888 (GRCm39)	A23T	possibly damaging	Het
Dpp8	T	A	9: 64,949,549 (GRCm39)	M98K	possibly damaging	Het
Dspp	C	A	5: 104,323,041 (GRCm39)	N61K	probably benign	Het
Eno2	T	C	6: 124,738,626 (GRCm39)	Y364C	probably damaging	Het
Gfra1	A	G	19: 58,441,683 (GRCm39)	S83P	probably benign	Het
Gramd1b	T	C	9: 40,218,127 (GRCm39)	E563G	probably damaging	Het
Kcns2	G	T	15: 34,838,961 (GRCm39)	W108L	probably damaging	Het
Mroh4	T	C	15: 74,480,086 (GRCm39)		probably benign	Het
Obscn	A	T	11: 59,015,446 (GRCm39)	S1009T	probably benign	Het
Or2y11	A	G	11: 49,443,506 (GRCm39)	R311G	probably benign	Het
Or5b119	A	G	19: 13,456,699 (GRCm39)	Y288H	probably damaging	Het
Or7g32	T	C	9: 19,388,805 (GRCm39)	H244R	probably damaging	Het
Or8b41	A	G	9: 38,054,707 (GRCm39)	K92R	probably benign	Het
Plcb2	G	A	2: 118,547,500 (GRCm39)		probably benign	Het
Skil	A	G	3: 31,171,673 (GRCm39)	E599G	probably damaging	Het
Snx19	A	G	9: 30,343,556 (GRCm39)	N572S	possibly damaging	Het
Spata31	T	C	13: 65,068,463 (GRCm39)	S204P	probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Tenm3	A	T	8: 48,729,938 (GRCm39)	V1356E	probably benign	Het
Trpc3	T	A	3: 36,704,377 (GRCm39)	I527F	probably benign	Het
Vmn2r69	A	G	7: 85,059,416 (GRCm39)	W498R	probably damaging	Het
Vwde	T	A	6: 13,205,759 (GRCm39)	I263L	probably damaging	Het
Vwf	G	T	6: 125,619,893 (GRCm39)	V1524L	possibly damaging	Het
Wdr55	A	G	18: 36,896,435 (GRCm39)	E375G	probably benign	Het

Other mutations in Rpl13a-ps1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0453:Rpl13a-ps1	UTSW	19	50,018,645 (GRCm39)	nonsense	probably null
R2351:Rpl13a-ps1	UTSW	19	50,018,868 (GRCm39)	missense	probably benign
R5319:Rpl13a-ps1	UTSW	19	50,018,591 (GRCm39)	missense	possibly damaging	0.69
R8850:Rpl13a-ps1	UTSW	19	50,018,739 (GRCm39)	missense	probably damaging	1.00
R8898:Rpl13a-ps1	UTSW	19	50,018,747 (GRCm39)	missense	probably benign	0.00
R9562:Rpl13a-ps1	UTSW	19	50,018,612 (GRCm39)	missense	possibly damaging	0.71
Z1177:Rpl13a-ps1	UTSW	19	50,018,607 (GRCm39)	missense	probably benign

Posted On

2015-04-16