Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02746:Rpl4'

306055

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rpl4

Ensembl Gene

ENSMUSG00000032399

Gene Name

ribosomal protein L4

Synonyms

2010004J23Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

IGL02746

Quality Score

Status

Chromosome

Chromosomal Location

64080657-64085948 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64082932 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 117 (T117A)

Ref Sequence

ENSEMBL: ENSMUSP00000034966 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034965] [ENSMUST00000034966] [ENSMUST00000176378] [ENSMUST00000176794] [ENSMUST00000122091] [ENSMUST00000130127] [ENSMUST00000177045] [ENSMUST00000176299]

AlphaFold

Q9D8E6

Predicted Effect

probably benign
Transcript: ENSMUST00000034965

SMART Domains

Protein: ENSMUSP00000034965
Gene: ENSMUSG00000032398

Domain	Start	End	E-Value	Type
Pfam:SNAPc19	7	101	5.4e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000034966
AA Change: T117A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000034966
Gene: ENSMUSG00000032399
AA Change: T117A

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L4	22	263	9.7e-47	PFAM
Pfam:Ribos_L4_asso_C	275	349	4e-34	PFAM
low complexity region	352	367	N/A	INTRINSIC
low complexity region	375	419	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082580

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082984

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083425

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083818

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083895

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151428

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217055

Predicted Effect

probably benign
Transcript: ENSMUST00000176378

SMART Domains

Protein: ENSMUSP00000134782
Gene: ENSMUSG00000032400

Domain	Start	End	E-Value	Type
PDB:3IF8\|A	3	74	1e-31	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000176794

SMART Domains

Protein: ENSMUSP00000134850
Gene: ENSMUSG00000032400

Domain	Start	End	E-Value	Type
Pfam:DUF2352	38	257	8e-67	PFAM
Pfam:DUF2352	254	568	4.4e-131	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000122091

SMART Domains

Protein: ENSMUSP00000112790
Gene: ENSMUSG00000032400

Domain	Start	End	E-Value	Type
Pfam:DUF2352	38	589	6e-206	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130127

SMART Domains

Protein: ENSMUSP00000116187
Gene: ENSMUSG00000032400

Domain	Start	End	E-Value	Type
Pfam:DUF2352	72	154	8e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177045

SMART Domains

Protein: ENSMUSP00000135328
Gene: ENSMUSG00000032400

Domain	Start	End	E-Value	Type
Pfam:DUF2352	19	303	2.2e-93	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176299

SMART Domains

Protein: ENSMUSP00000135585
Gene: ENSMUSG00000032400

Domain	Start	End	E-Value	Type
Pfam:DUF2352	1	471	2.9e-192	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124301

SMART Domains

Protein: ENSMUSP00000134966
Gene: ENSMUSG00000032400

Domain	Start	End	E-Value	Type
PDB:3IF8\|A	3	74	3e-31	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213760

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 L4E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	G	A	6: 121,646,462 (GRCm39)		probably benign	Het
Adck5	A	T	15: 76,473,354 (GRCm39)	M68L	probably benign	Het
Aox3	T	C	1: 58,222,701 (GRCm39)	S1165P	possibly damaging	Het
Arhgap23	A	G	11: 97,345,030 (GRCm39)		probably benign	Het
Brdt	T	C	5: 107,518,190 (GRCm39)	L771P	probably benign	Het
Ccdc134	T	A	15: 82,015,938 (GRCm39)		probably benign	Het
Cdc42bpa	T	A	1: 179,939,312 (GRCm39)	D41E	possibly damaging	Het
Cdkn2aipnl	A	G	11: 51,861,047 (GRCm39)	T106A	probably damaging	Het
Cox10	G	A	11: 63,855,357 (GRCm39)		probably benign	Het
Cubn	C	A	2: 13,449,851 (GRCm39)	C891F	probably damaging	Het
Cyb5rl	A	G	4: 106,925,836 (GRCm39)	E6G	probably benign	Het
Dhrs2	T	C	14: 55,478,628 (GRCm39)	S258P	probably damaging	Het
Dnah10	T	C	5: 124,807,150 (GRCm39)	L145P	possibly damaging	Het
Epc1	A	G	18: 6,454,317 (GRCm39)	I129T	probably benign	Het
Gkn3	A	G	6: 87,364,339 (GRCm39)		probably benign	Het
Gls2	A	G	10: 128,036,825 (GRCm39)	D202G	probably damaging	Het
Gm45844	A	G	7: 7,243,178 (GRCm39)	F24S	probably damaging	Het
Golph3	C	T	15: 12,349,501 (GRCm39)	R174W	probably damaging	Het
Gpatch4	A	C	3: 87,961,698 (GRCm39)	E119A	possibly damaging	Het
Hemgn	A	G	4: 46,400,740 (GRCm39)	L40P	probably damaging	Het
Ifi27l2b	A	T	12: 103,417,493 (GRCm39)	D231E	unknown	Het
Klf12	T	C	14: 100,137,656 (GRCm39)	I297V	probably benign	Het
Lzts3	T	C	2: 130,478,261 (GRCm39)	N165S	probably damaging	Het
Nlrp4e	G	A	7: 23,021,264 (GRCm39)	V584I	probably benign	Het
Npas4	T	C	19: 5,036,695 (GRCm39)	T490A	probably damaging	Het
Pikfyve	C	A	1: 65,273,431 (GRCm39)	H615Q	probably damaging	Het
Plce1	T	A	19: 38,686,916 (GRCm39)	L608Q	probably damaging	Het
Pou2f3	T	G	9: 43,058,143 (GRCm39)	Q67H	probably benign	Het
Rev3l	T	C	10: 39,700,585 (GRCm39)	L1694P	probably damaging	Het
Scn5a	T	C	9: 119,379,703 (GRCm39)	N194D	probably damaging	Het
Sec16b	T	A	1: 157,373,859 (GRCm39)		probably benign	Het
Slc12a5	A	T	2: 164,816,836 (GRCm39)	M97L	probably benign	Het
Stard13	A	G	5: 150,970,322 (GRCm39)		probably benign	Het
Stau1	A	C	2: 166,796,818 (GRCm39)		probably null	Het
Thg1l	A	T	11: 45,839,054 (GRCm39)	C219*	probably null	Het
Togaram1	G	T	12: 65,013,270 (GRCm39)	E174*	probably null	Het
Vmn1r237	T	C	17: 21,534,480 (GRCm39)	S68P	possibly damaging	Het
Vmn2r3	A	T	3: 64,167,239 (GRCm39)	S631T	possibly damaging	Het

Other mutations in Rpl4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01761:Rpl4	APN	9	64,082,221 (GRCm39)	missense	probably damaging	1.00
IGL02142:Rpl4	APN	9	64,083,488 (GRCm39)	missense	possibly damaging	0.86
IGL03084:Rpl4	APN	9	64,085,599 (GRCm39)	unclassified	probably benign
IGL03332:Rpl4	APN	9	64,083,370 (GRCm39)	unclassified	probably benign
R2320:Rpl4	UTSW	9	64,082,881 (GRCm39)	missense	probably damaging	1.00
R4990:Rpl4	UTSW	9	64,082,167 (GRCm39)	missense	probably benign	0.15
R6880:Rpl4	UTSW	9	64,084,335 (GRCm39)	missense	probably damaging	1.00
R7734:Rpl4	UTSW	9	64,084,661 (GRCm39)	missense	probably benign	0.29
R7985:Rpl4	UTSW	9	64,085,212 (GRCm39)	missense	probably damaging	1.00
R8754:Rpl4	UTSW	9	64,082,242 (GRCm39)	missense	probably damaging	1.00
R8941:Rpl4	UTSW	9	64,082,245 (GRCm39)	missense	probably benign

Posted On

2015-04-16