Mutagenetix > Incidental Mutation

Incidental Mutation 'R6249:Rps24'

505874

Institutional Source

Beutler Lab

Gene Symbol

Rps24

Ensembl Gene

ENSMUSG00000025290

Gene Name

ribosomal protein S24

Synonyms

MRP S24

Accession Numbers

Essential gene?

Probably essential (E-score: 0.840) question?

Stock #

R6249 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24540746-24547028 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 24543530 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 108 (T108M)

Ref Sequence

ENSEMBL: ENSMUSP00000153637 (fasta)

Gene Model

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

AlphaFold

P62849

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112384
AA Change: T120M

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108003
Gene: ENSMUSG00000025290
AA Change: T120M

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169826
AA Change: T120M

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125977
Gene: ENSMUSG00000025290
AA Change: T120M

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223931

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223939

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223999
AA Change: T120M

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224549

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224568
AA Change: T108M

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225023
AA Change: T120M

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224569

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225117

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225994

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224699

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004F10Rik	A	T	7: 115,702,505 (GRCm39)	S90C	probably damaging	Het
Abca9	T	C	11: 110,036,453 (GRCm39)	D552G	probably benign	Het
Adgrb3	A	G	1: 25,471,639 (GRCm39)	L502P	probably damaging	Het
Agmo	T	C	12: 37,293,837 (GRCm39)		probably null	Het
Ank3	A	G	10: 69,658,906 (GRCm39)		probably null	Het
Apol11b	G	T	15: 77,519,537 (GRCm39)	T181K	probably benign	Het
Arap2	G	T	5: 62,803,536 (GRCm39)	H1244N	probably damaging	Het
Arid1b	A	T	17: 5,329,636 (GRCm39)	M838L	possibly damaging	Het
Aste1	G	A	9: 105,273,816 (GRCm39)	V19I	probably benign	Het
B3gnt3	A	T	8: 72,145,306 (GRCm39)	M354K	probably damaging	Het
Calcr	A	T	6: 3,692,711 (GRCm39)	M381K	possibly damaging	Het
Ccdc63	A	C	5: 122,263,062 (GRCm39)	L160W	probably benign	Het
Cerkl	A	G	2: 79,199,122 (GRCm39)	L156P	probably damaging	Het
Csnk2a1-ps3	A	G	1: 156,352,800 (GRCm39)	M334V	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Ddb1	C	A	19: 10,583,084 (GRCm39)	Y5*	probably null	Het
Fignl2	T	C	15: 100,952,060 (GRCm39)	E74G	possibly damaging	Het
Glb1l2	C	T	9: 26,676,850 (GRCm39)		probably benign	Het
Gm16503	A	G	4: 147,625,508 (GRCm39)	M1V	probably null	Het
Gm2696	A	C	10: 77,630,646 (GRCm39)		probably benign	Het
Gm45844	A	G	7: 7,243,092 (GRCm39)	S20P	probably benign	Het
Gm7579	C	T	7: 141,765,743 (GRCm39)	P50S	unknown	Het
Idh1	A	G	1: 65,205,378 (GRCm39)	S196P	probably damaging	Het
Il1rap	T	C	16: 26,511,598 (GRCm39)	V214A	possibly damaging	Het
Kctd17	C	G	15: 78,314,239 (GRCm39)		probably null	Het
Lama1	G	T	17: 68,105,599 (GRCm39)	V2036L	probably benign	Het
Lars1	G	T	18: 42,390,271 (GRCm39)		probably null	Het
Mdn1	T	A	4: 32,708,484 (GRCm39)	V1670E	possibly damaging	Het
Mtmr7	A	T	8: 41,034,524 (GRCm39)	I266N	probably damaging	Het
Ncapd3	GGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTG	9: 26,999,349 (GRCm39)		probably benign	Het
Nckap5	T	C	1: 125,952,667 (GRCm39)	E1295G	probably benign	Het
Nrxn3	T	A	12: 89,221,448 (GRCm39)	V409D	probably damaging	Het
Or13p3	A	G	4: 118,566,910 (GRCm39)	Y102C	probably damaging	Het
Or2a5	G	T	6: 42,874,238 (GRCm39)	L284F	probably damaging	Het
Or2aj4	T	A	16: 19,384,725 (GRCm39)	N303Y	probably damaging	Het
Or51q1	A	T	7: 103,628,818 (GRCm39)	S140C	possibly damaging	Het
Or5h22	T	C	16: 58,894,795 (GRCm39)	Y216C	probably damaging	Het
Or8b44	T	G	9: 38,410,880 (GRCm39)	I305R	unknown	Het
Pcdha4	T	A	18: 37,086,729 (GRCm39)	V304E	probably damaging	Het
Pde6c	T	C	19: 38,147,008 (GRCm39)		probably null	Het
Pebp4	A	T	14: 70,297,099 (GRCm39)	T213S	possibly damaging	Het
Phf2	C	A	13: 48,959,348 (GRCm39)	R886L	unknown	Het
Pik3ca	A	T	3: 32,515,712 (GRCm39)	H795L	probably damaging	Het
Pisd	G	T	5: 32,896,188 (GRCm39)	T379N	probably damaging	Het
Pld2	T	C	11: 70,446,196 (GRCm39)	L732P	probably damaging	Het
Pskh1	A	G	8: 106,639,617 (GRCm39)	D99G	possibly damaging	Het
Rest	A	G	5: 77,429,071 (GRCm39)	T497A	probably benign	Het
Rtel1	C	T	2: 180,993,475 (GRCm39)	R566C	probably damaging	Het
Scyl2	A	G	10: 89,493,719 (GRCm39)	S350P	possibly damaging	Het
Slc38a7	G	T	8: 96,564,302 (GRCm39)		probably null	Het
Sox5	A	G	6: 143,779,009 (GRCm39)	I674T	probably benign	Het
Spata31f1a	A	T	4: 42,850,528 (GRCm39)	W543R	probably benign	Het
Surf4	C	A	2: 26,816,899 (GRCm39)	E39D	probably damaging	Het
Tas2r144	T	A	6: 42,192,291 (GRCm39)	Y10*	probably null	Het
Thbs4	C	T	13: 92,911,215 (GRCm39)	G323R	probably damaging	Het
Top2b	A	G	14: 16,399,006 (GRCm38)	Y542C	probably damaging	Het
Trim61	A	G	8: 65,467,108 (GRCm39)	V51A	probably benign	Het
Tyrp1	T	A	4: 80,769,009 (GRCm39)	I501N	possibly damaging	Het
U2surp	C	T	9: 95,382,869 (GRCm39)	D32N	probably benign	Het
Ush1c	T	C	7: 45,864,383 (GRCm39)	Y411C	probably damaging	Het
Vwa7	G	A	17: 35,242,365 (GRCm39)	V490I	probably benign	Het
Xylt1	G	T	7: 117,266,528 (GRCm39)	A849S	probably benign	Het
Ythdc1	T	A	5: 86,979,815 (GRCm39)	N599K	possibly damaging	Het
Zbtb38	T	A	9: 96,568,045 (GRCm39)	Y1013F	probably damaging	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		probably benign	Het
Zswim9	T	C	7: 12,994,903 (GRCm39)	S418G	probably damaging	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
R6146:Rps24	UTSW	14	24,540,803 (GRCm39)	start gained	probably null
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'- ACAAGATGCTGAGCAGTGTTG -3'
(R):5'- CAGAGCTTCTCAAAACGTTACC -3'

Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- AGAGCTTCTCAAAACGTTACCTTCTG -3'

Posted On

2018-02-28