Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02955:Rpl10a'

365093

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rpl10a

Ensembl Gene

ENSMUSG00000037805

Gene Name

ribosomal protein L10A

Synonyms

Nedd6, CsA-19

Accession Numbers

Essential gene?

Probably essential (E-score: 0.937) question?

Stock #

IGL02955

Quality Score

Status

Chromosome

Chromosomal Location

28547557-28550007 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28547967 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 36 (I36T)

Ref Sequence

ENSEMBL: ENSMUSP00000114141 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042334] [ENSMUST00000088007] [ENSMUST00000114799] [ENSMUST00000114801] [ENSMUST00000114803] [ENSMUST00000114804] [ENSMUST00000123248] [ENSMUST00000129935] [ENSMUST00000146104] [ENSMUST00000156505] [ENSMUST00000154873] [ENSMUST00000156862] [ENSMUST00000219703]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042334
AA Change: I36T

PolyPhen 2 Score 0.616 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000048469
Gene: ENSMUSG00000037805
AA Change: I36T

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L1	12	213	3.5e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000088007

SMART Domains

Protein: ENSMUSP00000085322
Gene: ENSMUSG00000007570

Domain	Start	End	E-Value	Type
Pfam:FA_FANCE	1	212	5.9e-93	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114799

SMART Domains

Protein: ENSMUSP00000110447
Gene: ENSMUSG00000002249

Domain	Start	End	E-Value	Type
low complexity region	8	19	N/A	INTRINSIC
TEA	52	123	9.04e-52	SMART
low complexity region	150	165	N/A	INTRINSIC
low complexity region	181	202	N/A	INTRINSIC
low complexity region	208	222	N/A	INTRINSIC
low complexity region	227	244	N/A	INTRINSIC
PDB:3KYS\|C	248	465	1e-120	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000114801

SMART Domains

Protein: ENSMUSP00000110449
Gene: ENSMUSG00000007570

Domain	Start	End	E-Value	Type
Pfam:FA_FANCE	7	98	1.8e-32	PFAM
Pfam:FA_FANCE	93	125	7.6e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114803

SMART Domains

Protein: ENSMUSP00000110451
Gene: ENSMUSG00000007570

Domain	Start	End	E-Value	Type
Pfam:FA_FANCE	7	167	1.5e-68	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114804

SMART Domains

Protein: ENSMUSP00000110452
Gene: ENSMUSG00000007570

Domain	Start	End	E-Value	Type
Pfam:FA_FANCE	1	140	3.7e-56	PFAM
Pfam:FA_FANCE	137	170	6e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123248

SMART Domains

Protein: ENSMUSP00000119663
Gene: ENSMUSG00000007570

Domain	Start	End	E-Value	Type
Pfam:FA_FANCE	1	154	3.1e-67	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000129935
AA Change: I36T

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114141
Gene: ENSMUSG00000037805
AA Change: I36T

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L1	3	57	1.3e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150103

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152665

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143443

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124870

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127212

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146668

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128758

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156569

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141049

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151557

Predicted Effect

probably benign
Transcript: ENSMUST00000146104

SMART Domains

Protein: ENSMUSP00000114386
Gene: ENSMUSG00000007570

Domain	Start	End	E-Value	Type
Pfam:FA_FANCE	1	96	7.2e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156505

SMART Domains

Protein: ENSMUSP00000118622
Gene: ENSMUSG00000007570

Domain	Start	End	E-Value	Type
Pfam:FA_FANCE	1	67	4e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154873

SMART Domains

Protein: ENSMUSP00000118582
Gene: ENSMUSG00000002249

Domain	Start	End	E-Value	Type
Pfam:TEA	1	366	3.8e-149	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156862

SMART Domains

Protein: ENSMUSP00000115443
Gene: ENSMUSG00000002249

Domain	Start	End	E-Value	Type
Pfam:TEA	1	366	3.8e-149	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000219703

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 L1P family of ribosomal proteins. It is located in the cytoplasm. The expression of this gene is downregulated in the thymus by cyclosporin-A (CsA), an immunosuppressive drug. Studies in mice have shown that the expression of the ribosomal protein L10a gene is downregulated in neural precursor cells during development. This gene previously was referred to as NEDD6 (neural precursor cell expressed, developmentally downregulated 6), but it has been renamed RPL10A (ribosomal protein 10a). 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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abr	T	A	11: 76,309,991 (GRCm39)	H840L	probably damaging	Het
Anks1	A	G	17: 28,273,291 (GRCm39)	D970G	probably damaging	Het
B4galnt4	A	G	7: 140,644,591 (GRCm39)	K162R	probably null	Het
Bicd2	T	C	13: 49,531,691 (GRCm39)	V311A	probably benign	Het
Cblif	T	C	19: 11,725,027 (GRCm39)	L6P	possibly damaging	Het
Ccdc162	A	G	10: 41,437,123 (GRCm39)	L489P	probably damaging	Het
Cd55	G	T	1: 130,377,219 (GRCm39)	T38K	probably damaging	Het
Cep250	C	A	2: 155,817,676 (GRCm39)	A749E	probably benign	Het
Cntn3	G	T	6: 102,255,262 (GRCm39)	T212N	probably damaging	Het
Cntnap5c	T	A	17: 58,199,097 (GRCm39)		probably benign	Het
Dclre1c	A	G	2: 3,439,089 (GRCm39)	E83G	probably damaging	Het
Dok4	T	C	8: 95,592,256 (GRCm39)	N244S	probably damaging	Het
Dync2h1	T	C	9: 7,142,864 (GRCm39)	T1151A	probably benign	Het
Fer	G	A	17: 64,298,712 (GRCm39)		probably null	Het
Hexb	A	G	13: 97,317,584 (GRCm39)		probably benign	Het
Ints5	T	C	19: 8,875,014 (GRCm39)	L991P	probably damaging	Het
Itga5	T	C	15: 103,259,261 (GRCm39)	D722G	possibly damaging	Het
Jup	A	G	11: 100,267,565 (GRCm39)	I586T	probably benign	Het
Lig1	G	A	7: 13,030,273 (GRCm39)	G417R	probably damaging	Het
Lig4	A	G	8: 10,022,103 (GRCm39)	I559T	possibly damaging	Het
Mcm3ap	A	G	10: 76,343,300 (GRCm39)	I1731V	probably benign	Het
Mfsd13a	T	G	19: 46,356,192 (GRCm39)	V99G	possibly damaging	Het
Nelfcd	A	G	2: 174,264,391 (GRCm39)	H153R	probably damaging	Het
Nlrp1b	A	G	11: 71,060,637 (GRCm39)	Y724H	possibly damaging	Het
Npas3	C	A	12: 53,548,048 (GRCm39)	N101K	probably damaging	Het
Nuf2	A	G	1: 169,334,807 (GRCm39)		probably benign	Het
Or10am5	T	C	7: 6,517,682 (GRCm39)	T249A	probably damaging	Het
Or11g7	C	T	14: 50,691,442 (GRCm39)	T311I	probably damaging	Het
Or5c1	A	T	2: 37,222,013 (GRCm39)	M85L	probably benign	Het
Polr3c	A	G	3: 96,621,628 (GRCm39)	Y423H	probably damaging	Het
Pomgnt2	A	G	9: 121,811,956 (GRCm39)	L275P	probably damaging	Het
Ptprj	T	G	2: 90,298,808 (GRCm39)		probably null	Het
Pxdn	T	C	12: 30,053,156 (GRCm39)	I931T	probably damaging	Het
Rad51b	C	T	12: 79,371,856 (GRCm39)	Q190*	probably null	Het
Tagap1	T	C	17: 7,223,781 (GRCm39)	H305R	probably damaging	Het
Tmem154	A	G	3: 84,591,508 (GRCm39)		probably benign	Het
Vil1	A	G	1: 74,457,682 (GRCm39)	E105G	probably benign	Het
Wdfy4	C	A	14: 32,798,241 (GRCm39)	C2055F	probably damaging	Het
Zfat	T	C	15: 68,052,963 (GRCm39)	N277S	probably damaging	Het

Other mutations in Rpl10a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00930:Rpl10a	APN	17	28,547,981 (GRCm39)	missense	probably damaging	1.00
R4106:Rpl10a	UTSW	17	28,549,933 (GRCm39)	missense	probably benign	0.01
R4921:Rpl10a	UTSW	17	28,549,826 (GRCm39)	missense	probably benign	0.15
R5057:Rpl10a	UTSW	17	28,549,607 (GRCm39)	missense	probably benign	0.00
R6352:Rpl10a	UTSW	17	28,549,820 (GRCm39)	missense	possibly damaging	0.56
R6932:Rpl10a	UTSW	17	28,548,424 (GRCm39)	missense	probably benign
R9374:Rpl10a	UTSW	17	28,548,006 (GRCm39)	missense	possibly damaging	0.50
R9731:Rpl10a	UTSW	17	28,547,594 (GRCm39)	unclassified	probably benign

Posted On

2015-12-18