Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02496:Rpl37a'

295860

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rpl37a

Ensembl Gene

ENSMUSG00000046330

Gene Name

ribosomal protein L37a

Synonyms

Accession Numbers

Is this an essential gene?

Not available question?

Stock #

IGL02496

Quality Score

Status

Chromosome

Chromosomal Location

72711290-72713813 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 72711726 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 20 (A20T)

Ref Sequence

ENSEMBL: ENSMUSP00000058919 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059980]

Predicted Effect

probably null
Transcript: ENSMUST00000059980
AA Change: A20T

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000058919
Gene: ENSMUSG00000046330
AA Change: A20T

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L37ae	2	91	1.7e-42	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211963

Predicted Effect

probably benign
Transcript: ENSMUST00000212335

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212432

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 L37AE family of ribosomal proteins. It is located in the cytoplasm. The protein contains a C4-type zinc finger-like domain. 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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	G	1: 71,288,553	H1456P	possibly damaging	Het
Abcg1	C	A	17: 31,105,604	H274Q	probably damaging	Het
Adamts4	G	A	1: 171,250,943	R44Q	probably benign	Het
Amigo2	A	T	15: 97,245,613	C309*	probably null	Het
Ccdc88c	A	C	12: 100,953,293	S446A	probably benign	Het
Cd9	A	T	6: 125,472,495	V28E	probably damaging	Het
Cops2	A	T	2: 125,836,243		probably benign	Het
Csn1s1	C	T	5: 87,677,594		probably benign	Het
Cul9	G	T	17: 46,540,376	R373S	possibly damaging	Het
D630045J12Rik	G	T	6: 38,149,705	H1457N	probably damaging	Het
Dnah9	A	G	11: 66,029,363	S2235P	probably damaging	Het
Efr3b	C	T	12: 3,983,391	V139I	probably benign	Het
Fbxo10	A	T	4: 45,043,883	W647R	probably damaging	Het
Flnb	T	A	14: 7,930,919		probably benign	Het
Flnc	G	T	6: 29,440,685	V301L	probably damaging	Het
Hfm1	T	C	5: 106,901,761	S445G	probably benign	Het
Hif3a	A	G	7: 17,039,678		probably benign	Het
Hsd17b4	T	C	18: 50,155,153	Y217H	probably damaging	Het
Iba57	T	C	11: 59,158,946	T192A	probably benign	Het
Igkv5-48	A	T	6: 69,726,687	I78N	probably damaging	Het
Inhbe	A	T	10: 127,350,928	W128R	probably damaging	Het
Ism1	T	C	2: 139,757,201	C365R	probably damaging	Het
Kif19a	A	T	11: 114,779,644	T127S	probably damaging	Het
Kmt2d	C	A	15: 98,857,558		probably benign	Het
Mmp20	A	G	9: 7,654,041	R321G	probably damaging	Het
Msl2	T	C	9: 101,100,655	M76T	possibly damaging	Het
Nme9	T	C	9: 99,469,631	C223R	probably damaging	Het
Nucb1	G	T	7: 45,495,043		probably benign	Het
Ocrl	G	A	X: 47,933,438	D262N	probably benign	Het
Olfr1450	T	A	19: 12,954,192	I201N	possibly damaging	Het
Olfr449	A	C	6: 42,838,804	I308L	probably benign	Het
Olfr46	A	C	7: 140,610,168	M1L	probably benign	Het
P4ha1	A	G	10: 59,371,002		probably null	Het
Parp8	T	C	13: 116,862,302		probably benign	Het
Pcdhb6	A	G	18: 37,335,454	D476G	probably damaging	Het
Pikfyve	A	G	1: 65,264,376	E1685G	possibly damaging	Het
Plod2	T	A	9: 92,607,094	L714Q	probably damaging	Het
Plscr2	A	G	9: 92,289,663	I103V	probably benign	Het
Plscr3	C	A	11: 69,847,383		probably benign	Het
Pmaip1	A	G	18: 66,463,299	R80G	probably damaging	Het
Ppm1d	C	T	11: 85,339,666	P370L	possibly damaging	Het
Prr36	C	A	8: 4,216,407	E48*	probably null	Het
Ptgir	G	A	7: 16,907,484	V234I	possibly damaging	Het
Ptk7	A	T	17: 46,590,144	V219E	probably benign	Het
Rab39b	T	A	X: 75,575,003	I74F	probably damaging	Het
Rasal2	A	T	1: 157,149,879	M1075K	possibly damaging	Het
Serpinb10	A	C	1: 107,538,425		probably null	Het
Sipa1l1	T	A	12: 82,425,094	Y1283N	probably damaging	Het
Slc22a23	T	A	13: 34,344,485	I105F	possibly damaging	Het
Slc25a20	T	A	9: 108,682,400	I221N	probably damaging	Het
Smarcal1	A	T	1: 72,620,088	H691L	probably damaging	Het
Smo	A	C	6: 29,758,481	T542P	probably damaging	Het
Spats2	T	A	15: 99,173,448	I51N	probably damaging	Het
Spon1	G	T	7: 114,036,662	V704L	probably benign	Het
St5	C	A	7: 109,556,235	R436L	possibly damaging	Het
Tex9	T	A	9: 72,482,492	Q112L	probably benign	Het
Tgfbr2	T	C	9: 116,090,418	E580G	probably benign	Het
Top2b	T	A	14: 16,387,335	V141E	probably benign	Het
Trhde	A	T	10: 114,800,561	L247*	probably null	Het
Umodl1	G	T	17: 30,998,654	V1145F	probably damaging	Het
Vasp	C	A	7: 19,258,823		probably benign	Het
Vmn1r8	G	T	6: 57,036,571	L202F	probably damaging	Het
Vmn2r111	T	C	17: 22,568,856	T505A	probably benign	Het
Wdr27	A	G	17: 14,892,431		probably benign	Het
Wfdc1	T	G	8: 119,680,170	V109G	probably damaging	Het
Zan	C	A	5: 137,464,794	E708*	probably null	Het
Zbtb1	T	A	12: 76,385,395	F52I	possibly damaging	Het
Zfp236	A	G	18: 82,629,992	S1015P	probably damaging	Het
Zfp532	T	C	18: 65,624,042	S349P	probably damaging	Het
Znfx1	A	T	2: 167,047,630	C731S	possibly damaging	Het

Other mutations in Rpl37a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R5223:Rpl37a	UTSW	1	72712149	missense	probably benign	0.00

Posted On

2015-04-16