Mutagenetix > Incidental Mutation

Incidental Mutation 'R4736:Rpl36al'

359278

Institutional Source

Beutler Lab

Gene Symbol

Rpl36al

Ensembl Gene

ENSMUSG00000049751

Gene Name

ribosomal protein L36A-like

Synonyms

2410038A03Rik, RPL36A

MMRRC Submission

041963-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.758) question?

Stock #

R4736 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69229508-69230841 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 69229732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 60 (A60V)

Ref Sequence

ENSEMBL: ENSMUSP00000106250 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054544] [ENSMUST00000060579] [ENSMUST00000110619] [ENSMUST00000110620] [ENSMUST00000110621] [ENSMUST00000222520]

AlphaFold

P83882

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054544
AA Change: A60V

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000059766
Gene: ENSMUSG00000049751
AA Change: A60V

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L44	17	94	6.3e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000060579

SMART Domains

Protein: ENSMUSP00000057905
Gene: ENSMUSG00000043998

Domain	Start	End	E-Value	Type
transmembrane domain	12	29	N/A	INTRINSIC
Pfam:MGAT2	87	435	2.4e-158	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110619
AA Change: A60V

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000106249
Gene: ENSMUSG00000049751
AA Change: A60V

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L44	17	95	1.3e-35	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110620
AA Change: A60V

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000106250
Gene: ENSMUSG00000049751
AA Change: A60V

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L44	17	95	1.3e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110621

SMART Domains

Protein: ENSMUSP00000106251
Gene: ENSMUSG00000034883

Domain	Start	End	E-Value	Type
LRR	184	206	8.09e-1	SMART
LRR	207	230	4.57e0	SMART
LRR	234	255	7.17e1	SMART
LRR	256	278	1.71e2	SMART
LRR	279	301	6.05e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000222520

Predicted Effect

probably benign
Transcript: ENSMUST00000223192

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 94.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cytoplasmic ribosomes, 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, which shares sequence similarity with yeast ribosomal protein L44, belongs to the L44E (L36AE) family of ribosomal proteins. This gene and the human gene officially named ribosomal protein L36a (RPL36A) encode nearly identical proteins; however, they are distinct genes. Although the name of this gene has been referred to as ribosomal protein L36a (RPL36A), its official name is ribosomal protein L36a-like (RPL36AL). 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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,774,246 (GRCm39)	I1145T	probably damaging	Het
Aadat	T	C	8: 60,993,140 (GRCm39)	V360A	probably benign	Het
Abhd16a	A	T	17: 35,320,859 (GRCm39)	T436S	probably benign	Het
Acbd5	G	T	2: 22,989,596 (GRCm39)	L406F	probably damaging	Het
Agrn	G	A	4: 156,256,858 (GRCm39)	T1142M	probably benign	Het
Aig1	C	A	10: 13,677,674 (GRCm39)	W106L	probably damaging	Het
Akr1d1	T	C	6: 37,534,535 (GRCm39)		probably null	Het
Ap1g1	G	A	8: 110,581,714 (GRCm39)	D658N	possibly damaging	Het
Arhgap45	A	G	10: 79,862,006 (GRCm39)	Y520C	probably damaging	Het
Arhgap5	A	T	12: 52,565,860 (GRCm39)	M944L	probably benign	Het
Asic5	C	T	3: 81,907,116 (GRCm39)	T47I	possibly damaging	Het
Cabp5	A	G	7: 13,134,664 (GRCm39)		probably null	Het
Ccr6	A	T	17: 8,474,896 (GRCm39)	R34*	probably null	Het
Cdin1	A	G	2: 115,412,369 (GRCm39)	I2V	probably benign	Het
Clec4a2	T	C	6: 123,117,622 (GRCm39)	I180T	probably damaging	Het
Cmtr1	A	G	17: 29,919,216 (GRCm39)	E704G	possibly damaging	Het
Cyth3	G	A	5: 143,670,234 (GRCm39)		probably null	Het
Dbt	T	C	3: 116,332,781 (GRCm39)	I200T	probably damaging	Het
Dennd6b	T	C	15: 89,069,795 (GRCm39)	H468R	probably benign	Het
Depdc5	A	G	5: 33,132,666 (GRCm39)	M1237V	probably benign	Het
Dpp6	A	G	5: 27,917,657 (GRCm39)	Y616C	probably damaging	Het
Dync2h1	A	T	9: 7,006,862 (GRCm39)	S3710T	probably benign	Het
Eif4g3	T	A	4: 137,925,408 (GRCm39)	S1584T	probably benign	Het
Emc3	G	A	6: 113,508,310 (GRCm39)	T45I	possibly damaging	Het
Esf1	T	A	2: 139,966,891 (GRCm39)	D685V	probably damaging	Het
Ezr	A	G	17: 7,008,975 (GRCm39)	S366P	probably benign	Het
Gbe1	C	T	16: 70,292,141 (GRCm39)	A491V	probably damaging	Het
Haus6	A	G	4: 86,518,986 (GRCm39)		probably null	Het
Heca	G	A	10: 17,790,935 (GRCm39)	Q12*	probably null	Het
Hpdl	T	C	4: 116,678,221 (GRCm39)	N80S	probably damaging	Het
Hydin	A	T	8: 111,249,840 (GRCm39)	Q2261L	probably benign	Het
Itgae	G	T	11: 73,005,706 (GRCm39)	R290L	possibly damaging	Het
Kcna10	C	A	3: 107,102,808 (GRCm39)	L480I	probably benign	Het
Kif27	T	C	13: 58,476,785 (GRCm39)	T622A	probably benign	Het
Lama2	T	C	10: 27,080,925 (GRCm39)	N966S	probably damaging	Het
Mdfic	A	G	6: 15,741,019 (GRCm39)	K38E	possibly damaging	Het
Med25	G	A	7: 44,541,712 (GRCm39)	A26V	probably damaging	Het
Mrpl19	A	T	6: 81,941,329 (GRCm39)	S77R	probably damaging	Het
Mtcl2	T	A	2: 156,862,474 (GRCm39)	D1485V	probably damaging	Het
Mybpc2	T	C	7: 44,161,971 (GRCm39)	D493G	probably damaging	Het
Myh4	A	G	11: 67,131,746 (GRCm39)	T69A	probably benign	Het
Myo16	G	T	8: 10,423,527 (GRCm39)	G288W	probably damaging	Het
Myo9b	T	C	8: 71,809,236 (GRCm39)	L1815P	probably damaging	Het
Myom2	T	A	8: 15,131,271 (GRCm39)	L323Q	probably damaging	Het
Naip1	T	C	13: 100,581,034 (GRCm39)	D71G	possibly damaging	Het
Nktr	T	A	9: 121,578,805 (GRCm39)		probably benign	Het
Nol10	A	G	12: 17,405,288 (GRCm39)	K88E	probably damaging	Het
Nol4	T	C	18: 22,852,050 (GRCm39)	D505G	probably damaging	Het
Nynrin	T	A	14: 56,101,454 (GRCm39)	N374K	probably damaging	Het
Obscn	A	T	11: 58,954,362 (GRCm39)	L3740Q	probably damaging	Het
Or5g23	T	C	2: 85,438,327 (GRCm39)	H309R	probably benign	Het
Otub2	T	A	12: 103,359,103 (GRCm39)	L64Q	probably benign	Het
Pgm5	G	A	19: 24,812,169 (GRCm39)	A121V	probably damaging	Het
Pi4ka	A	T	16: 17,195,039 (GRCm39)	Y120N	probably benign	Het
Rspo4	T	C	2: 151,685,054 (GRCm39)	Y21H	probably benign	Het
Scube2	A	G	7: 109,430,412 (GRCm39)	V455A	probably benign	Het
Serpina1f	T	C	12: 103,659,805 (GRCm39)	D159G	probably damaging	Het
Sf1	A	G	19: 6,415,694 (GRCm39)	D11G	probably damaging	Het
Siglecg	T	C	7: 43,067,332 (GRCm39)	F633S	probably benign	Het
Skic2	A	G	17: 35,067,173 (GRCm39)	S89P	possibly damaging	Het
Slc22a13	T	C	9: 119,022,698 (GRCm39)	E501G	probably damaging	Het
Slc44a3	A	G	3: 121,303,855 (GRCm39)	S294P	probably damaging	Het
Smad3	T	G	9: 63,664,842 (GRCm39)	K40Q	probably damaging	Het
Stt3a	T	A	9: 36,661,008 (GRCm39)	M268L	probably benign	Het
Taf4	A	T	2: 179,566,287 (GRCm39)	V817E	probably damaging	Het
Tgfbr1	A	G	4: 47,383,835 (GRCm39)	T58A	probably benign	Het
Trpc6	T	C	9: 8,609,871 (GRCm39)	V113A	probably damaging	Het
Ttll13	T	A	7: 79,898,024 (GRCm39)		probably null	Het
Uba7	T	C	9: 107,857,364 (GRCm39)	L742P	probably benign	Het
Ulk2	A	G	11: 61,724,261 (GRCm39)	L174P	probably damaging	Het
Unc5c	A	T	3: 141,522,692 (GRCm39)	Y706F	probably benign	Het
Unc80	A	T	1: 66,688,831 (GRCm39)		probably null	Het
Usp34	T	A	11: 23,343,749 (GRCm39)		probably null	Het
Vmn1r71	A	T	7: 10,481,791 (GRCm39)	V233D	possibly damaging	Het
Xpo6	T	C	7: 125,739,755 (GRCm39)	K439R	probably benign	Het
Xrn1	G	T	9: 95,915,689 (GRCm39)	G1271C	probably damaging	Het
Yes1	A	T	5: 32,818,121 (GRCm39)	E386V	probably damaging	Het
Zfp759	C	A	13: 67,287,408 (GRCm39)	H320N	probably damaging	Het
Zfp990	A	T	4: 145,263,512 (GRCm39)	H170L	possibly damaging	Het

Other mutations in Rpl36al

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1872:Rpl36al	UTSW	12	69,229,697 (GRCm39)	missense	probably damaging	1.00
R5667:Rpl36al	UTSW	12	69,229,897 (GRCm39)	missense	possibly damaging	0.86
R6638:Rpl36al	UTSW	12	69,229,708 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGCAGGTCATTTCTCTACTGC -3'
(R):5'- CAGTTCTCATCGCAGACACTTCTAC -3'

Sequencing Primer
(F):5'- GCTTCAGTATTTTCCTCTCAGAGAAC -3'
(R):5'- TTCTACTGCAAACATGGTCAACG -3'

Posted On

2015-11-11