Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00917:Rpl35a'

29139

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rpl35a

Ensembl Gene

ENSMUSG00000060636

Gene Name

ribosomal protein L35A

Synonyms

2810431L15Rik

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL00917

Quality Score

Status

Chromosome

Chromosomal Location

32876823-32880559 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32879101 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 73 (K73E)

Ref Sequence

ENSEMBL: ENSMUSP00000110731 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023497] [ENSMUST00000040309] [ENSMUST00000078804] [ENSMUST00000115075] [ENSMUST00000115076] [ENSMUST00000115078] [ENSMUST00000115079] [ENSMUST00000115100]

AlphaFold

O55142

Predicted Effect

probably benign
Transcript: ENSMUST00000023497

SMART Domains

Protein: ENSMUSP00000023497
Gene: ENSMUSG00000022802

Domain	Start	End	E-Value	Type
signal peptide	1	42	N/A	INTRINSIC
Pfam:Peptidase_M8	154	289	3.9e-16	PFAM
Pfam:Peptidase_M8	295	633	5.2e-54	PFAM
transmembrane domain	658	680	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000040309

SMART Domains

Protein: ENSMUSP00000041686
Gene: ENSMUSG00000035578

Domain	Start	End	E-Value	Type
low complexity region	38	53	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078804
AA Change: K73E

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000077857
Gene: ENSMUSG00000060636
AA Change: K73E

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L35Ae	5	104	1e-46	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000105610

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115075
AA Change: K73E

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110727
Gene: ENSMUSG00000060636
AA Change: K73E

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L35Ae	5	104	1e-46	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115076
AA Change: K73E

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110728
Gene: ENSMUSG00000060636
AA Change: K73E

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L35Ae	5	104	7e-51	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115078
AA Change: K73E

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110730
Gene: ENSMUSG00000060636
AA Change: K73E

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L35Ae	5	104	1e-46	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115079
AA Change: K73E

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110731
Gene: ENSMUSG00000060636
AA Change: K73E

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L35Ae	5	104	1e-46	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137720

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133785

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126793

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232188

Predicted Effect

probably benign
Transcript: ENSMUST00000115100

SMART Domains

Protein: ENSMUSP00000110752
Gene: ENSMUSG00000035578

Domain	Start	End	E-Value	Type
low complexity region	3	50	N/A	INTRINSIC
low complexity region	101	116	N/A	INTRINSIC
coiled coil region	248	329	N/A	INTRINSIC
IQ	371	393	1.54e-2	SMART
low complexity region	399	419	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L35AE family of ribosomal proteins. It is located in the cytoplasm. The rat protein has been shown to bind to both initiator and elongator tRNAs, and thus, it is located at the P site, or P and A sites, of the ribosome. Although this gene was originally mapped to chromosome 18, it has been established that it is located at 3q29-qter. Alternative splicing results in multiple transcript variants. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Oct 2015]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	T	16: 20,241,107 (GRCm39)	V26E	probably benign	Het
Adcy4	T	A	14: 56,011,120 (GRCm39)		probably null	Het
Adgrl3	C	T	5: 81,841,421 (GRCm39)	T766I	possibly damaging	Het
Atad2b	A	T	12: 5,015,837 (GRCm39)		probably benign	Het
Atp8b4	A	T	2: 126,216,453 (GRCm39)	S664R	probably benign	Het
Cand1	A	C	10: 119,046,841 (GRCm39)	I883S	possibly damaging	Het
Cfap53	A	G	18: 74,432,367 (GRCm39)	D85G	probably benign	Het
Chd4	G	A	6: 125,081,909 (GRCm39)	R514Q	possibly damaging	Het
Cnst	T	C	1: 179,452,557 (GRCm39)		probably benign	Het
Col6a6	T	C	9: 105,661,453 (GRCm39)		probably benign	Het
Cux2	A	C	5: 122,007,168 (GRCm39)	L831R	probably null	Het
Elf2	T	A	3: 51,215,467 (GRCm39)		probably benign	Het
Frey1	T	A	2: 92,213,563 (GRCm39)	S39T	probably benign	Het
Glp1r	A	G	17: 31,138,443 (GRCm39)		probably benign	Het
Hus1b	A	G	13: 31,131,527 (GRCm39)	M44T	probably benign	Het
Mbd6	A	G	10: 127,119,988 (GRCm39)		probably benign	Het
Med31	T	A	11: 72,102,905 (GRCm39)		probably null	Het
Mmrn1	C	T	6: 60,952,894 (GRCm39)	Q392*	probably null	Het
Mrpl3	T	G	9: 104,934,240 (GRCm39)	V121G	probably damaging	Het
Or10am5	A	G	7: 6,517,577 (GRCm39)	S284P	probably damaging	Het
Or14c46	A	T	7: 85,918,649 (GRCm39)	M116K	probably damaging	Het
Palld	A	G	8: 61,968,969 (GRCm39)	V879A	possibly damaging	Het
Pkn2	G	T	3: 142,559,386 (GRCm39)	D46E	probably damaging	Het
Prkdc	T	A	16: 15,557,428 (GRCm39)	C2244S	probably damaging	Het
Prss50	T	A	9: 110,691,474 (GRCm39)	H259Q	possibly damaging	Het
Rab8b	C	T	9: 66,761,969 (GRCm39)	W102*	probably null	Het
Rad54l2	A	T	9: 106,587,638 (GRCm39)	L709Q	possibly damaging	Het
Rapgef1	T	C	2: 29,592,535 (GRCm39)	V471A	probably benign	Het
Rbms3	A	G	9: 116,939,183 (GRCm39)	S27P	probably damaging	Het
Sugct	A	T	13: 17,032,503 (GRCm39)	Y416*	probably null	Het
Top2b	A	G	14: 16,407,354 (GRCm38)	I713V	probably benign	Het
Unc79	A	T	12: 103,054,766 (GRCm39)	R777S	possibly damaging	Het
Vps37a	T	A	8: 40,993,779 (GRCm39)	M258K	probably benign	Het
Zfp944	G	A	17: 22,558,765 (GRCm39)	L161F	probably benign	Het

Posted On

2013-04-17