Mutagenetix > Incidental Mutation

Incidental Mutation 'R6146:Rps24'

488902

Institutional Source

Beutler Lab

Gene Symbol

Rps24

Ensembl Gene

ENSMUSG00000025290

Gene Name

ribosomal protein S24

Synonyms

MRP S24

MMRRC Submission

044293-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.826) question?

Stock #

R6146 (G1)

Quality Score

189.009

Status

Not validated

Chromosome

Chromosomal Location

24540746-24547028 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

A to T at 24540803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152944 (fasta)

Gene Model

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

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

probably null
Transcript: ENSMUST00000112384

SMART Domains

Protein: ENSMUSP00000108003
Gene: ENSMUSG00000025290

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

Predicted Effect

probably null
Transcript: ENSMUST00000169826

SMART Domains

Protein: ENSMUSP00000125977
Gene: ENSMUSG00000025290

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

probably null
Transcript: ENSMUST00000223999

Predicted Effect

probably null
Transcript: ENSMUST00000225023

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225117

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224569

Predicted Effect

probably null
Transcript: ENSMUST00000224568

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224699

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225014

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224549

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225994

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

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 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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	G	5: 8,946,587 (GRCm39)	E29G	probably benign	Het
Abi3bp	T	C	16: 56,491,628 (GRCm39)	S552P	probably damaging	Het
Adgrg7	A	G	16: 56,593,829 (GRCm39)	I129T	probably benign	Het
Adhfe1	A	G	1: 9,623,943 (GRCm39)	N148S	probably damaging	Het
AI182371	A	G	2: 34,987,983 (GRCm39)	Y77H	probably damaging	Het
Aldh5a1	C	T	13: 25,103,661 (GRCm39)		probably null	Het
Ankrd2	A	G	19: 42,028,544 (GRCm39)	T67A	possibly damaging	Het
Anln	A	T	9: 22,287,604 (GRCm39)	C232*	probably null	Het
Cchcr1	A	G	17: 35,839,475 (GRCm39)	D587G	possibly damaging	Het
Cgn	G	T	3: 94,674,435 (GRCm39)	Q901K	possibly damaging	Het
Cip2a	A	T	16: 48,814,692 (GRCm39)	K18*	probably null	Het
Cluh	G	T	11: 74,558,054 (GRCm39)		probably null	Het
Crebbp	G	A	16: 3,902,487 (GRCm39)	Q2213*	probably null	Het
Cyp2d22	T	A	15: 82,258,036 (GRCm39)		probably null	Het
Dcdc2a	T	C	13: 25,389,440 (GRCm39)	V456A	probably benign	Het
Depdc5	A	G	5: 33,126,075 (GRCm39)	E569G	probably benign	Het
Dnah5	T	C	15: 28,459,331 (GRCm39)	F4517L	probably benign	Het
Doc2b	T	C	11: 75,664,421 (GRCm39)	K317E	probably damaging	Het
Dysf	T	A	6: 84,180,181 (GRCm39)	D1951E	probably damaging	Het
Epha6	C	A	16: 60,245,198 (GRCm39)	A334S	possibly damaging	Het
F2rl2	A	C	13: 95,837,149 (GRCm39)	I65L	probably benign	Het
Fbxw17	A	G	13: 50,586,548 (GRCm39)	K417E	probably benign	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Fxr2	A	G	11: 69,532,165 (GRCm39)	M96V	possibly damaging	Het
Kcnj10	C	A	1: 172,196,892 (GRCm39)	Y135*	probably null	Het
Kidins220	G	A	12: 25,102,812 (GRCm39)	R1238Q	probably damaging	Het
Krt31	T	C	11: 99,939,056 (GRCm39)	N255S	probably benign	Het
Lrp2	T	C	2: 69,341,345 (GRCm39)	D945G	probably benign	Het
Lrrc66	T	C	5: 73,765,432 (GRCm39)	D537G	probably benign	Het
Ltbp4	T	A	7: 27,019,149 (GRCm39)	I992F	probably damaging	Het
Lzts1	A	G	8: 69,593,524 (GRCm39)	S28P	probably benign	Het
Mrc2	C	A	11: 105,216,470 (GRCm39)	N86K	probably damaging	Het
Mroh6	C	A	15: 75,758,486 (GRCm39)	A302S	possibly damaging	Het
Muc16	T	A	9: 18,409,093 (GRCm39)	N198Y	probably damaging	Het
Myo9a	T	C	9: 59,778,512 (GRCm39)	S1423P	probably benign	Het
Or10ag58	A	T	2: 87,265,662 (GRCm39)	D277V	possibly damaging	Het
Or2b28	A	T	13: 21,531,164 (GRCm39)	Y22F	possibly damaging	Het
Or5h22	A	G	16: 58,895,077 (GRCm39)	V122A	probably benign	Het
Or5p56	G	T	7: 107,589,620 (GRCm39)	G16V	probably damaging	Het
Or5w17	A	C	2: 87,583,602 (GRCm39)	L245R	probably damaging	Het
Or9g4	T	A	2: 85,504,938 (GRCm39)	K186*	probably null	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Polg	T	C	7: 79,100,260 (GRCm39)	M1184V	probably benign	Het
Prl8a8	T	C	13: 27,694,463 (GRCm39)	Y108C	probably damaging	Het
Proser1	T	A	3: 53,385,540 (GRCm39)	I474N	probably damaging	Het
Rab44	A	G	17: 29,354,391 (GRCm39)		probably benign	Het
Rbp1	C	A	9: 98,307,669 (GRCm39)	D79E	possibly damaging	Het
Rnf213	T	C	11: 119,326,825 (GRCm39)	V1605A	probably benign	Het
Setd5	T	C	6: 113,098,773 (GRCm39)		probably null	Het
Skic3	A	G	13: 76,333,359 (GRCm39)	E1536G	probably damaging	Het
Slc38a3	T	C	9: 107,532,228 (GRCm39)	I435V	probably benign	Het
Slco1a5	T	A	6: 142,180,534 (GRCm39)	M623L	probably benign	Het
Spaca9	G	A	2: 28,583,793 (GRCm39)	R64W	probably damaging	Het
Spn	A	G	7: 126,735,479 (GRCm39)	S343P	possibly damaging	Het
Sptan1	A	G	2: 29,894,535 (GRCm39)	T1168A	probably benign	Het
Sptbn4	A	T	7: 27,064,012 (GRCm39)	L2138*	probably null	Het
Tg	T	A	15: 66,545,216 (GRCm39)		probably null	Het
Tigd5	T	A	15: 75,782,094 (GRCm39)	L152Q	probably damaging	Het
Tmem163	C	T	1: 127,447,126 (GRCm39)	V170I	probably benign	Het
Tpr	T	C	1: 150,298,913 (GRCm39)	C1068R	possibly damaging	Het
Ubr1	A	T	2: 120,723,690 (GRCm39)	Y1290N	probably damaging	Het
Vmn1r184	T	A	7: 25,966,817 (GRCm39)	F188I	probably benign	Het
Vmn2r100	G	A	17: 19,742,522 (GRCm39)	V299I	probably benign	Het
Vmn2r91	T	G	17: 18,356,518 (GRCm39)	H728Q	probably benign	Het
Vta1	T	C	10: 14,581,096 (GRCm39)	Y37C	probably damaging	Het
Wbp2	C	A	11: 115,974,728 (GRCm39)	M35I	probably benign	Het
Zcchc9	G	A	13: 91,953,986 (GRCm39)	Q90*	probably null	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
R4837:Rps24	UTSW	14	24,541,855 (GRCm39)	missense	possibly damaging	0.93
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'- GAGTGGATCCAATTCAGGCCAG -3'
(R):5'- AGCTCCACAGGGGTTTCCATAG -3'

Sequencing Primer
(F):5'- ATTCAGGCCAGCCAGAGC -3'
(R):5'- ACAGGGGTTTCCATAGCCGAG -3'

Posted On

2017-10-10