Mutagenetix > Incidental Mutation

Incidental Mutation 'R9731:Rpl10a'

731430

Institutional Source

Beutler Lab

Gene Symbol

Rpl10a

Ensembl Gene

ENSMUSG00000037805

Gene Name

ribosomal protein L10A

Synonyms

Nedd6, CsA-19

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.937) question?

Stock #

R9731 (G1)

Quality Score

192.009

Status

Not validated

Chromosome

Chromosomal Location

28547557-28550007 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 28547594 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152030 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000042334

SMART Domains

Protein: ENSMUSP00000048469
Gene: ENSMUSG00000037805

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

not run
Transcript: ENSMUST00000152665
AA Change: V4A

Predicted Effect

probably benign
Transcript: ENSMUST00000129935

SMART Domains

Protein: ENSMUSP00000114141
Gene: ENSMUSG00000037805

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L1	3	57	1.3e-8	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: 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: ENSMUST00000219703

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 99.0%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	T	G	4: 109,362,918 (GRCm39)	S134R	probably damaging	Het
A930033H14Rik	T	A	10: 69,048,679 (GRCm39)	R53W	unknown	Het
Abca9	G	T	11: 110,025,024 (GRCm39)	D1006E	probably benign	Het
Abcc6	T	A	7: 45,669,660 (GRCm39)	R132*	probably null	Het
Ankrd40	C	T	11: 94,229,250 (GRCm39)	T283I	probably damaging	Het
Atr	A	G	9: 95,747,092 (GRCm39)	K125E	possibly damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Cep290	A	T	10: 100,346,404 (GRCm39)	L527F	probably damaging	Het
Cep295	T	C	9: 15,245,262 (GRCm39)	N1065D	possibly damaging	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Ddx54	C	T	5: 120,758,807 (GRCm39)	A350V	probably benign	Het
Defb23	C	T	2: 152,301,333 (GRCm39)	V80I	probably benign	Het
Dennd5b	G	A	6: 148,970,138 (GRCm39)	T127I	probably damaging	Het
Dnah6	G	T	6: 73,168,589 (GRCm39)	Q445K	probably benign	Het
Dync2h1	T	C	9: 7,141,166 (GRCm39)	H1287R	probably benign	Het
Enpp7	G	A	11: 118,879,151 (GRCm39)	G37R	probably damaging	Het
Exoc2	T	C	13: 31,061,233 (GRCm39)	T554A	probably benign	Het
Fgf8	T	C	19: 45,730,846 (GRCm39)	N60D	probably benign	Het
Gdi2	A	G	13: 3,588,299 (GRCm39)	M1V	probably null	Het
Glra3	G	T	8: 56,542,058 (GRCm39)	R267L	probably damaging	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,133,040 (GRCm39)		probably benign	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Greb1	C	T	12: 16,738,598 (GRCm39)	R1455H	probably damaging	Het
Grk6	C	A	13: 55,607,640 (GRCm39)	P575T	possibly damaging	Het
Hpgd	A	T	8: 56,751,391 (GRCm39)	D73V	probably benign	Het
Hpse	G	A	5: 100,842,022 (GRCm39)	H288Y	probably damaging	Het
Hpse2	G	A	19: 42,794,826 (GRCm39)	R506*	probably null	Het
Ing1	C	A	8: 11,611,649 (GRCm39)	T123N	probably benign	Het
Kdm2b	T	C	5: 123,125,823 (GRCm39)	D27G	probably benign	Het
Kmt2c	A	T	5: 25,577,956 (GRCm39)	D773E	probably benign	Het
Lrrc7	T	C	3: 157,880,888 (GRCm39)	D516G	probably benign	Het
Lrsam1	A	G	2: 32,835,452 (GRCm39)		probably null	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Meak7	C	A	8: 120,498,010 (GRCm39)	A165S	probably benign	Het
Ndufaf3	T	C	9: 108,443,158 (GRCm39)	*186W	probably null	Het
Ndufaf5	C	T	2: 140,012,807 (GRCm39)	A59V	possibly damaging	Het
Nphp3	T	C	9: 103,886,369 (GRCm39)	L281S	probably damaging	Het
Or10a4	T	G	7: 106,696,786 (GRCm39)	V38G	probably benign	Het
Or4c12	T	A	2: 89,774,316 (GRCm39)	I48F	possibly damaging	Het
Or8b37	A	T	9: 37,958,892 (GRCm39)	I125F	probably damaging	Het
Otogl	G	T	10: 107,735,328 (GRCm39)	T152K	probably damaging	Het
Oxgr1	C	T	14: 120,260,094 (GRCm39)	V38I	probably benign	Het
Polr2a	G	A	11: 69,638,043 (GRCm39)	T142M	possibly damaging	Het
Pou6f1	C	T	15: 100,476,206 (GRCm39)	R560Q	possibly damaging	Het
Ptgr3	T	G	18: 84,113,128 (GRCm39)	V268G	probably damaging	Het
Rbm33	A	G	5: 28,544,242 (GRCm39)	E166G	probably damaging	Het
Rgs14	T	A	13: 55,528,784 (GRCm39)	Y308*	probably null	Het
Rras2	A	C	7: 113,659,593 (GRCm39)	I57S	probably damaging	Het
Scn1b	C	T	7: 30,824,596 (GRCm39)	V31M	probably damaging	Het
Sema6d	G	A	2: 124,506,117 (GRCm39)	A642T	probably damaging	Het
Sis	T	A	3: 72,835,543 (GRCm39)	T940S	probably benign	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc22a27	G	A	19: 7,904,126 (GRCm39)	Q4*	probably null	Het
Slc44a2	T	A	9: 21,263,770 (GRCm39)	I646N	possibly damaging	Het
Sprtn	C	A	8: 125,629,704 (GRCm39)	Y332*	probably null	Het
Srpk1	A	G	17: 28,825,297 (GRCm39)	I125T	probably damaging	Het
Sv2b	G	A	7: 74,786,068 (GRCm39)	H451Y	probably benign	Het
Tec	G	A	5: 72,939,439 (GRCm39)	T192M	probably benign	Het
Tlr3	G	A	8: 45,850,944 (GRCm39)	T127M	probably damaging	Het
Trim25	C	A	11: 88,906,391 (GRCm39)	P405T	probably benign	Het
Trpm4	T	C	7: 44,958,054 (GRCm39)	D952G	probably damaging	Het
Tsc1	A	G	2: 28,566,486 (GRCm39)	D635G	probably benign	Het
Ttc7b	T	C	12: 100,461,683 (GRCm39)	E98G	possibly damaging	Het
Ubr2	A	G	17: 47,274,071 (GRCm39)		probably null	Het
Usp19	T	A	9: 108,376,885 (GRCm39)	S1153T	probably damaging	Het
Vmn2r63	A	T	7: 42,553,361 (GRCm39)	L632M	probably benign	Het
Vps13c	C	T	9: 67,826,526 (GRCm39)	T1389I	probably benign	Het
Wasf1	T	A	10: 40,806,731 (GRCm39)	Y125N	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
IGL02955:Rpl10a	APN	17	28,547,967 (GRCm39)	missense	probably damaging	0.99
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

Predicted Primers

PCR Primer
(F):5'- GGAGAAATCCAATCCCAGGG -3'
(R):5'- TCTCCAGAAACCTGAGCGAG -3'

Sequencing Primer
(F):5'- AGCCCTTGTCCCAATGCAG -3'
(R):5'- TGGTTCCCGTGCAGGACTTC -3'

Posted On

2022-11-14