Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02142:Rpl4'

281624

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 #

IGL02142

Quality Score

Status

Chromosome

Chromosomal Location

64080657-64085948 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64083488 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 179 (D179G)

Ref Sequence

ENSEMBL: ENSMUSP00000034966 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000034966
AA Change: D179G

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000034966
Gene: ENSMUSG00000032399
AA Change: D179G

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

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

noncoding transcript
Transcript: ENSMUST00000213760

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: 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: 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: ENSMUST00000217055

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

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,963,575 (GRCm39)	S2060P	probably benign	Het
Abcg4	A	G	9: 44,189,014 (GRCm39)	F426S	probably benign	Het
Actn1	C	T	12: 80,222,929 (GRCm39)		probably null	Het
Adgrd1	T	A	5: 129,208,648 (GRCm39)	H251Q	probably benign	Het
Adgrg3	C	T	8: 95,766,483 (GRCm39)	P385S	probably damaging	Het
Ampd2	G	T	3: 107,987,660 (GRCm39)		probably benign	Het
Arhgap42	A	G	9: 9,155,360 (GRCm39)	S86P	probably damaging	Het
Art5	C	T	7: 101,747,123 (GRCm39)	E121K	probably null	Het
Atad5	G	A	11: 79,985,023 (GRCm39)	E37K	probably benign	Het
Atp13a5	A	G	16: 29,053,315 (GRCm39)	V1084A	probably benign	Het
Cfap44	T	C	16: 44,241,507 (GRCm39)	I626T	probably benign	Het
Col16a1	T	A	4: 129,945,440 (GRCm39)		probably null	Het
Defa22	T	G	8: 21,653,130 (GRCm39)	C81G	possibly damaging	Het
Dnm2	A	G	9: 21,411,649 (GRCm39)	Y622C	probably damaging	Het
Efna5	T	A	17: 62,914,340 (GRCm39)	L201F	unknown	Het
Elac1	T	C	18: 73,871,991 (GRCm39)	R335G	probably benign	Het
Enpp5	T	C	17: 44,396,468 (GRCm39)	V460A	probably benign	Het
Esr2	A	G	12: 76,169,969 (GRCm39)	V453A	probably benign	Het
Fam210b	T	A	2: 172,194,497 (GRCm39)		probably benign	Het
Fcgr1	T	C	3: 96,191,893 (GRCm39)	Y305C	probably benign	Het
Fcrlb	A	G	1: 170,736,248 (GRCm39)	V176A	probably damaging	Het
Gabrq	T	A	X: 71,879,783 (GRCm39)	V256E	possibly damaging	Het
Gba1	T	C	3: 89,113,148 (GRCm39)	L193P	probably damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Helq	A	G	5: 100,930,960 (GRCm39)	F597L	probably benign	Het
Hrh1	A	T	6: 114,457,204 (GRCm39)	I162L	probably damaging	Het
Jph1	A	T	1: 17,161,884 (GRCm39)	F259L	probably damaging	Het
Kdm2b	C	T	5: 123,085,898 (GRCm39)	E238K	probably damaging	Het
Kdm4c	T	A	4: 74,225,253 (GRCm39)		probably null	Het
Kif13a	T	C	13: 46,925,011 (GRCm39)	T308A	probably benign	Het
Lars1	C	T	18: 42,360,345 (GRCm39)	V704M	probably benign	Het
Lcmt2	A	G	2: 120,969,394 (GRCm39)	L343P	possibly damaging	Het
Lhfpl1	A	G	X: 144,123,733 (GRCm39)	F125L	probably benign	Het
Lmbrd2	C	A	15: 9,186,772 (GRCm39)	D582E	probably damaging	Het
Lrrn2	T	A	1: 132,866,983 (GRCm39)	S683T	possibly damaging	Het
Macf1	T	C	4: 123,365,842 (GRCm39)	D1408G	probably benign	Het
Magi3	T	C	3: 103,923,219 (GRCm39)	K1166R	probably benign	Het
Marchf5	T	C	19: 37,197,892 (GRCm39)		probably benign	Het
Ms4a20	G	A	19: 11,087,695 (GRCm39)	Q79*	probably null	Het
Naa25	A	G	5: 121,564,825 (GRCm39)	Q555R	possibly damaging	Het
Npat	A	G	9: 53,481,207 (GRCm39)	T1005A	probably benign	Het
Nt5c3	G	A	6: 56,863,670 (GRCm39)	A108V	probably damaging	Het
Ocrl	T	A	X: 47,024,995 (GRCm39)	M322K	probably damaging	Het
Odad2	C	A	18: 7,214,601 (GRCm39)	W733C	probably damaging	Het
Or8g2	A	G	9: 39,821,935 (GRCm39)	T279A	possibly damaging	Het
Psg23	A	T	7: 18,344,345 (GRCm39)	V370E	probably benign	Het
Rassf2	A	T	2: 131,838,353 (GRCm39)	M311K	possibly damaging	Het
Rhobtb3	A	G	13: 76,025,614 (GRCm39)	Y501H	probably damaging	Het
Scn2a	T	A	2: 65,546,182 (GRCm39)	I915N	probably damaging	Het
Scn3a	T	A	2: 65,356,965 (GRCm39)	T160S	possibly damaging	Het
Slx4ip	T	G	2: 136,909,942 (GRCm39)	N242K	possibly damaging	Het
Spidr	T	A	16: 15,865,945 (GRCm39)	Q288L	probably benign	Het
Sun1	A	T	5: 139,216,918 (GRCm39)	H255L	possibly damaging	Het
Tacc1	C	T	8: 25,665,233 (GRCm39)	G51S	probably damaging	Het
Tet2	T	A	3: 133,185,900 (GRCm39)	N1179I	possibly damaging	Het
Tgfbrap1	T	C	1: 43,101,752 (GRCm39)	Y349C	probably damaging	Het
Tnrc6a	T	C	7: 122,751,414 (GRCm39)		probably benign	Het
Trim32	T	C	4: 65,532,736 (GRCm39)	L431P	probably damaging	Het
Vmn1r35	A	G	6: 66,656,334 (GRCm39)	L112S	probably damaging	Het
Vmn2r100	A	C	17: 19,742,583 (GRCm39)	H319P	probably damaging	Het
Wdr20rt	A	G	12: 65,274,039 (GRCm39)	T328A	probably benign	Het
Zbtb17	T	C	4: 141,192,293 (GRCm39)	Y413H	probably benign	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
IGL02746:Rpl4	APN	9	64,082,932 (GRCm39)	missense	probably benign	0.00
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