Mutagenetix > Incidental Mutation

Incidental Mutation 'R1771:Rps24'

196626

Institutional Source

Beutler Lab

Gene Symbol

Rps24

Ensembl Gene

ENSMUSG00000025290

Gene Name

ribosomal protein S24

Synonyms

MRP S24

MMRRC Submission

039802-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.840) question?

Stock #

R1771 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24540746-24547028 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24541830 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 6 (T6A)

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 damaging
Transcript: ENSMUST00000112384
AA Change: T6A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108003
Gene: ENSMUSG00000025290
AA Change: T6A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000169826
AA Change: T6A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125977
Gene: ENSMUSG00000025290
AA Change: T6A

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 damaging
Transcript: ENSMUST00000223999
AA Change: T6A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000225023
AA Change: T6A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225994

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224699

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225014

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224569

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225117

Predicted Effect

probably benign
Transcript: ENSMUST00000224568

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224549

Meta Mutation Damage Score

0.2687

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.2%
20x: 92.0%

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 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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss3	A	G	10: 106,773,061 (GRCm39)	S642P	probably damaging	Het
Adam30	T	C	3: 98,068,835 (GRCm39)	S95P	possibly damaging	Het
Ahnak	G	A	19: 8,991,117 (GRCm39)	V4134I	probably benign	Het
Ankrd13a	T	C	5: 114,941,649 (GRCm39)	V512A	probably benign	Het
Asph	A	T	4: 9,598,773 (GRCm39)	S149R	probably damaging	Het
Atp2b4	C	A	1: 133,660,131 (GRCm39)	V384L	probably damaging	Het
Atp8a1	A	G	5: 67,805,074 (GRCm39)	W1014R	probably damaging	Het
Cand1	A	C	10: 119,044,211 (GRCm39)	N1054K	probably benign	Het
Car15	A	T	16: 17,654,730 (GRCm39)	V96E	probably damaging	Het
Cd1d1	T	C	3: 86,905,972 (GRCm39)	E101G	possibly damaging	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Ceacam1	T	A	7: 25,171,469 (GRCm39)	T332S	probably benign	Het
Clca3a2	A	T	3: 144,787,171 (GRCm39)	V500E	probably benign	Het
Cul9	A	T	17: 46,848,738 (GRCm39)	M666K	probably benign	Het
Dennd3	A	G	15: 73,426,950 (GRCm39)	T776A	possibly damaging	Het
Dennd5a	T	C	7: 109,517,893 (GRCm39)	D581G	probably damaging	Het
Dgkh	A	G	14: 78,846,967 (GRCm39)	V371A	probably damaging	Het
Dhcr24	A	G	4: 106,435,450 (GRCm39)	T314A	probably benign	Het
Diaph1	G	T	18: 38,024,071 (GRCm39)	P589Q	unknown	Het
Disp2	C	T	2: 118,621,778 (GRCm39)	Q837*	probably null	Het
Dusp3	A	T	11: 101,875,561 (GRCm39)	M1K	probably null	Het
Ecpas	A	G	4: 58,879,100 (GRCm39)	I63T	probably damaging	Het
Eddm13	G	T	7: 6,280,541 (GRCm39)		probably null	Het
Erich3	A	C	3: 154,454,109 (GRCm39)	D625A	possibly damaging	Het
Fat2	G	A	11: 55,201,691 (GRCm39)	S461L	probably benign	Het
Fmn2	A	G	1: 174,436,342 (GRCm39)		probably benign	Het
Foxi1	A	G	11: 34,157,594 (GRCm39)	Y144H	probably damaging	Het
Ftcd	G	A	10: 76,423,202 (GRCm39)	V458M	probably damaging	Het
Gm3604	C	A	13: 62,517,888 (GRCm39)	G157*	probably null	Het
Gnpda1	C	T	18: 38,466,380 (GRCm39)	R79Q	probably benign	Het
Gpr65	T	A	12: 98,242,259 (GRCm39)	I304K	probably damaging	Het
Grem1	T	C	2: 113,580,021 (GRCm39)	E160G	probably benign	Het
Gria2	T	A	3: 80,599,608 (GRCm39)	K759*	probably null	Het
Gsg1l	A	G	7: 125,557,745 (GRCm39)	S128P	probably damaging	Het
Hdac1	A	T	4: 129,415,221 (GRCm39)	I240N	probably damaging	Het
Hic2	C	T	16: 17,076,578 (GRCm39)	T469M	probably benign	Het
Hoxc10	A	C	15: 102,875,522 (GRCm39)	D77A	probably damaging	Het
Itprid1	T	C	6: 55,875,132 (GRCm39)	S361P	probably benign	Het
Klhl14	T	A	18: 21,784,677 (GRCm39)	H250L	probably damaging	Het
Klk1b24	A	G	7: 43,837,653 (GRCm39)		probably null	Het
Letm1	T	A	5: 33,926,811 (GRCm39)	H162L	probably damaging	Het
Loxl3	A	T	6: 83,026,890 (GRCm39)	Y573F	probably damaging	Het
Macf1	A	T	4: 123,405,901 (GRCm39)	I330N	probably damaging	Het
Mchr1	T	A	15: 81,121,436 (GRCm39)	I62N	probably damaging	Het
Mcm8	C	T	2: 132,685,476 (GRCm39)	Q803*	probably null	Het
Msh3	T	G	13: 92,349,004 (GRCm39)	D1075A	probably benign	Het
Msh6	T	A	17: 88,291,950 (GRCm39)	V235D	probably benign	Het
Mthfd2l	A	T	5: 91,122,254 (GRCm39)	D253V	probably damaging	Het
Mtor	T	C	4: 148,555,081 (GRCm39)	V901A	possibly damaging	Het
Muc20	A	T	16: 32,614,222 (GRCm39)	I385N	probably damaging	Het
Myo6	G	T	9: 80,193,082 (GRCm39)	C829F	probably damaging	Het
Nbea	T	C	3: 55,841,940 (GRCm39)	I1914V	probably benign	Het
Ncor1	T	C	11: 62,217,938 (GRCm39)	E1462G	probably damaging	Het
Necab1	A	G	4: 15,111,267 (GRCm39)	Y54H	probably damaging	Het
Nlrp4b	A	G	7: 10,452,520 (GRCm39)	K15R	probably damaging	Het
Ntrk1	A	G	3: 87,696,937 (GRCm39)	S139P	probably benign	Het
Oas1d	T	C	5: 121,053,900 (GRCm39)	F120S	probably damaging	Het
Ofd1	A	G	X: 165,189,002 (GRCm39)	Y755H	probably benign	Het
Or10al2	A	G	17: 37,983,554 (GRCm39)	I213M	probably damaging	Het
Or13a25	A	G	7: 140,248,048 (GRCm39)	T276A	probably benign	Het
Or4f47	T	G	2: 111,973,065 (GRCm39)	Y258*	probably null	Het
Or5c1	T	A	2: 37,222,430 (GRCm39)	F224I	probably benign	Het
Or5p58	A	C	7: 107,694,816 (GRCm39)		probably null	Het
Or9s27	A	G	1: 92,516,837 (GRCm39)	I262V	probably benign	Het
Plekha6	T	C	1: 133,201,651 (GRCm39)	S355P	probably benign	Het
Prdm14	T	C	1: 13,189,082 (GRCm39)	K421E	probably damaging	Het
Prss36	A	G	7: 127,532,625 (GRCm39)	L731P	probably damaging	Het
Rad51d	A	G	11: 82,774,764 (GRCm39)	L97P	probably damaging	Het
Rbl1	C	A	2: 157,005,454 (GRCm39)		probably null	Het
Rnh1	G	T	7: 140,744,519 (GRCm39)	A52D	possibly damaging	Het
Ryr2	A	C	13: 11,760,062 (GRCm39)		probably null	Het
Samd4	A	T	14: 47,326,532 (GRCm39)	N454I	probably damaging	Het
Sap130	T	C	18: 31,769,135 (GRCm39)	I32T	probably benign	Het
Sap30l	A	T	11: 57,696,925 (GRCm39)	N85I	probably damaging	Het
Sbf2	G	A	7: 110,060,353 (GRCm39)	Q204*	probably null	Het
Slc45a3	T	C	1: 131,904,694 (GRCm39)	W6R	possibly damaging	Het
Snx16	A	G	3: 10,484,221 (GRCm39)	V334A	probably damaging	Het
Soat1	C	T	1: 156,269,991 (GRCm39)	V143I	probably benign	Het
Sp8	T	A	12: 118,813,302 (GRCm39)	F386I	probably damaging	Het
Spag6	C	T	2: 18,738,928 (GRCm39)	S286L	probably benign	Het
Srpra	A	T	9: 35,124,147 (GRCm39)	N31I	possibly damaging	Het
Ssbp4	A	G	8: 71,051,502 (GRCm39)		probably null	Het
Stxbp2	G	T	8: 3,684,064 (GRCm39)	A124S	probably benign	Het
Tacc2	A	G	7: 130,343,970 (GRCm39)	K700R	probably damaging	Het
Tatdn2	A	T	6: 113,679,060 (GRCm39)		probably null	Het
Tecrl	G	A	5: 83,439,134 (GRCm39)	T226I	probably damaging	Het
Timeless	T	G	10: 128,083,477 (GRCm39)	V702G	probably benign	Het
Tjp1	A	T	7: 64,962,753 (GRCm39)	S1061R	probably benign	Het
Tmem39b	A	T	4: 129,587,011 (GRCm39)	C67S	probably damaging	Het
Tstd3	T	C	4: 21,759,475 (GRCm39)	Y99C	probably damaging	Het
Ttc39c	T	A	18: 12,817,881 (GRCm39)		probably null	Het
Ttll7	C	T	3: 146,600,160 (GRCm39)	P23S	probably benign	Het
Uba5	A	G	9: 103,927,107 (GRCm39)	F290S	probably damaging	Het
Ubap2l	T	C	3: 89,926,538 (GRCm39)	Y623C	probably damaging	Het
Ube3a	A	G	7: 58,925,714 (GRCm39)	E164G	probably damaging	Het
Ugcg	A	G	4: 59,207,775 (GRCm39)	N38S	probably benign	Het
Ugp2	G	A	11: 21,279,915 (GRCm39)	T283I	probably damaging	Het
Vmn1r55	A	T	7: 5,149,919 (GRCm39)	I168N	probably benign	Het
Wdr27	A	C	17: 15,112,703 (GRCm39)	S668A	probably damaging	Het
Wnt2	T	A	6: 18,008,696 (GRCm39)	N247I	probably damaging	Het
Zfp850	A	T	7: 27,684,700 (GRCm39)	C15*	probably null	Het
Zfp959	A	G	17: 56,204,677 (GRCm39)		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
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
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'- AAGCTCGCTGAATGCCAGCTAC -3'
(R):5'- CCCAGGATGAAGGACATCAATGACC -3'

Sequencing Primer
(F):5'- TCTCCAAGCACTAGAGGCATTG -3'
(R):5'- TGACCTATAAAGAGGTGTAAGAGTC -3'

Posted On

2014-05-23