Mutagenetix > Incidental Mutation

Incidental Mutation 'R4837:Rps24'

374362

Institutional Source

Beutler Lab

Gene Symbol

Rps24

Ensembl Gene

ENSMUSG00000025290

Gene Name

ribosomal protein S24

Synonyms

MRP S24

MMRRC Submission

042452-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.826) question?

Stock #

R4837 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24540746-24547028 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 24541855 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 14 (T14I)

Ref Sequence

ENSEMBL: ENSMUSP00000152944 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026322] [ENSMUST00000112384] [ENSMUST00000169826] [ENSMUST00000223718] [ENSMUST00000223999] [ENSMUST00000224568] [ENSMUST00000225023]

AlphaFold

P62849

Predicted Effect

probably benign
Transcript: ENSMUST00000026322

SMART Domains

Protein: ENSMUSP00000026322
Gene: ENSMUSG00000025280

Domain	Start	End	E-Value	Type
Blast:RPOLA_N	122	218	5e-43	BLAST
RPOLA_N	248	553	1.09e-176	SMART
Pfam:RNA_pol_Rpb1_4	728	834	4e-35	PFAM
Pfam:RNA_pol_Rpb1_5	841	1318	1.2e-92	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112384
AA Change: T14I

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108003
Gene: ENSMUSG00000025290
AA Change: T14I

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S24e	23	108	4.4e-41	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169826
AA Change: T14I

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125977
Gene: ENSMUSG00000025290
AA Change: T14I

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S24e	24	102	1.9e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000223718

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223931

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223939

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223999
AA Change: T14I

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000224568
AA Change: T2I

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225023
AA Change: T14I

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224699

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225014

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224549

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224569

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225117

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225994

Meta Mutation Damage Score

0.3654

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

99% (75/76)

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 40S subunit. The protein belongs to the S24E family of ribosomal proteins. It is located in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Mutations in this gene result in Diamond-Blackfan anemia. [provided by RefSeq, Nov 2008]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,846,203 (GRCm39)	H618L	probably benign	Het
Adgrl3	A	G	5: 81,914,081 (GRCm39)	T1230A	probably benign	Het
Ahnak2	A	G	12: 112,749,359 (GRCm39)	S203P	probably benign	Het
Allc	A	G	12: 28,609,308 (GRCm39)	V244A	probably benign	Het
Ap3m1	G	A	14: 21,087,225 (GRCm39)	P157L	probably damaging	Het
Arhgef2	T	G	3: 88,540,250 (GRCm39)	I97S	probably damaging	Het
Btaf1	C	A	19: 36,944,185 (GRCm39)	T398K	probably benign	Het
Cabp1	T	C	5: 115,311,212 (GRCm39)	M158V	probably damaging	Het
Ccdc162	G	A	10: 41,549,863 (GRCm39)	P340L	probably benign	Het
Ccdc168	G	A	1: 44,100,594 (GRCm39)	T168I	possibly damaging	Het
Clip4	A	G	17: 72,141,217 (GRCm39)	K524E	probably damaging	Het
Cltc	A	G	11: 86,586,474 (GRCm39)	V189A	probably benign	Het
Cmc2	A	G	8: 117,620,879 (GRCm39)	F34S	probably damaging	Het
Ctcfl	G	T	2: 172,955,449 (GRCm39)	T271N	probably benign	Het
Cyp4f16	T	A	17: 32,761,738 (GRCm39)	F124I	possibly damaging	Het
Ddx41	C	A	13: 55,679,461 (GRCm39)	R479L	possibly damaging	Het
Dgcr6	C	A	16: 17,884,710 (GRCm39)	N87K	possibly damaging	Het
Dll1	A	G	17: 15,589,121 (GRCm39)	L518P	probably damaging	Het
Dnaja4	G	T	9: 54,617,928 (GRCm39)	M263I	probably benign	Het
Dusp13b	T	A	14: 21,793,593 (GRCm39)		probably benign	Het
Fam185a	T	A	5: 21,685,375 (GRCm39)	I357N	probably benign	Het
Fam186a	T	C	15: 99,838,678 (GRCm39)	Y2522C	unknown	Het
Fam222a	T	A	5: 114,732,458 (GRCm39)	C4*	probably null	Het
Filip1	T	C	9: 79,726,741 (GRCm39)	D626G	probably damaging	Het
Ghrhr	C	T	6: 55,365,172 (GRCm39)	R389C	probably damaging	Het
Gstm3	T	A	3: 107,871,531 (GRCm39)	T217S	probably benign	Het
Gucy2g	T	C	19: 55,214,485 (GRCm39)	T548A	probably benign	Het
Hectd3	T	A	4: 116,859,794 (GRCm39)	C744S	probably null	Het
Hnrnpl	T	C	7: 28,516,762 (GRCm39)	S184P	probably benign	Het
Il3	G	A	11: 54,158,083 (GRCm39)		probably benign	Het
Itga5	C	T	15: 103,262,511 (GRCm39)	G330S	probably damaging	Het
Kl	A	G	5: 150,904,312 (GRCm39)	T355A	possibly damaging	Het
Lipk	A	C	19: 34,009,720 (GRCm39)	S208R	probably damaging	Het
Mrs2	T	A	13: 25,183,040 (GRCm39)		probably null	Het
Mutyh	A	G	4: 116,674,887 (GRCm39)	E372G	probably damaging	Het
Myh4	C	A	11: 67,149,818 (GRCm39)	A1821D	probably benign	Het
Nfkb2	G	T	19: 46,296,006 (GRCm39)	E170D	probably benign	Het
Nlrp12	T	C	7: 3,279,693 (GRCm39)	E881G	probably damaging	Het
Nol9	T	C	4: 152,136,552 (GRCm39)		probably benign	Het
Nwd1	A	G	8: 73,383,759 (GRCm39)	E52G	probably damaging	Het
Opn4	A	G	14: 34,318,261 (GRCm39)	V242A	probably damaging	Het
Or4e1	A	T	14: 52,701,103 (GRCm39)	M121K	probably damaging	Het
Or4k44	T	A	2: 111,368,319 (GRCm39)	H105L	probably damaging	Het
Or5m13	A	G	2: 85,748,748 (GRCm39)	T160A	probably benign	Het
Or6b1	T	G	6: 42,814,783 (GRCm39)		probably null	Het
Or6b2b	A	G	1: 92,418,697 (GRCm39)	V260A	probably benign	Het
Paxbp1	G	A	16: 90,831,866 (GRCm39)	Q341*	probably null	Het
Pcdh7	T	C	5: 57,877,753 (GRCm39)	V436A	possibly damaging	Het
Pcdhb18	G	A	18: 37,622,867 (GRCm39)	V66M	probably damaging	Het
Pikfyve	A	G	1: 65,285,749 (GRCm39)	E951G	possibly damaging	Het
Plcg1	A	G	2: 160,592,906 (GRCm39)	N179S	probably benign	Het
Prr11	A	C	11: 86,989,517 (GRCm39)	S285A	probably benign	Het
Ranbp17	A	G	11: 33,278,451 (GRCm39)	S139P	probably damaging	Het
Rasa4	G	A	5: 136,120,664 (GRCm39)		probably null	Het
Rnf213	G	C	11: 119,333,589 (GRCm39)	G2934R	probably benign	Het
Rpap1	A	G	2: 119,608,732 (GRCm39)	V210A	probably benign	Het
Rpn1	T	A	6: 88,067,187 (GRCm39)	N182K	probably benign	Het
Rrp12	C	T	19: 41,865,944 (GRCm39)		probably null	Het
Rttn	T	A	18: 89,108,539 (GRCm39)		probably null	Het
Rufy1	A	G	11: 50,292,320 (GRCm39)	S490P	probably damaging	Het
Sec62	T	A	3: 30,864,018 (GRCm39)	M100K	unknown	Het
Spata16	A	G	3: 26,787,081 (GRCm39)	H253R	possibly damaging	Het
Srcap	T	C	7: 127,158,134 (GRCm39)		probably benign	Het
Srrm1	A	G	4: 135,072,823 (GRCm39)		probably benign	Het
Tbcd	G	A	11: 121,473,611 (GRCm39)		probably null	Het
Tedc2	C	A	17: 24,439,567 (GRCm39)	A25S	probably damaging	Het
Tnr	A	T	1: 159,512,358 (GRCm39)		probably benign	Het
Tnxb	A	C	17: 34,936,981 (GRCm39)	D3730A	probably damaging	Het
Tor2a	G	A	2: 32,650,609 (GRCm39)	G201D	probably damaging	Het
Tpp1	T	C	7: 105,395,856 (GRCm39)	T558A	probably benign	Het
Vmn1r211	G	T	13: 23,036,296 (GRCm39)	Q124K	probably benign	Het
Wasf3	T	C	5: 146,397,788 (GRCm39)	V185A	probably benign	Het
Zbtb12	A	G	17: 35,114,985 (GRCm39)	T257A	probably benign	Het

Other mutations in Rps24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02049:Rps24	APN	14	24,541,823 (GRCm39)	missense	probably benign
R1209:Rps24	UTSW	14	24,541,830 (GRCm39)	missense	probably damaging	1.00
R1317:Rps24	UTSW	14	24,541,830 (GRCm39)	missense	probably damaging	1.00
R1363:Rps24	UTSW	14	24,541,830 (GRCm39)	missense	probably damaging	1.00
R1365:Rps24	UTSW	14	24,541,830 (GRCm39)	missense	probably damaging	1.00
R1393:Rps24	UTSW	14	24,541,830 (GRCm39)	missense	probably damaging	1.00
R1427:Rps24	UTSW	14	24,541,830 (GRCm39)	missense	probably damaging	1.00
R1429:Rps24	UTSW	14	24,541,830 (GRCm39)	missense	probably damaging	1.00
R1771:Rps24	UTSW	14	24,541,830 (GRCm39)	missense	probably damaging	1.00
R1776:Rps24	UTSW	14	24,541,830 (GRCm39)	missense	probably damaging	1.00
R2916:Rps24	UTSW	14	24,542,009 (GRCm39)	missense	probably benign	0.02
R6146:Rps24	UTSW	14	24,540,803 (GRCm39)	start gained	probably null
R6249:Rps24	UTSW	14	24,543,530 (GRCm39)	missense	possibly damaging	0.92
R6386:Rps24	UTSW	14	24,542,116 (GRCm39)	missense	possibly damaging	0.79
R7316:Rps24	UTSW	14	24,540,757 (GRCm39)	unclassified	probably benign
R8402:Rps24	UTSW	14	24,540,829 (GRCm39)	splice site	probably benign
V7732:Rps24	UTSW	14	24,541,830 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCAGTGTCAGGTGATCAGG -3'
(R):5'- ACCGAAGTGGGTTCTGAATCC -3'

Sequencing Primer
(F):5'- GTCAGGTGATCAGGGATTCTCAAATC -3'
(R):5'- CCGAAGTGGGTTCTGAATCCAAATAC -3'

Posted On

2016-03-01