Mutagenetix > Incidental Mutation

Incidental Mutation 'R6007:Mrpl24'

479530

Institutional Source

Beutler Lab

Gene Symbol

Mrpl24

Ensembl Gene

ENSMUSG00000019710

Gene Name

mitochondrial ribosomal protein L24

Synonyms

6720473G22Rik, 2810470K06Rik, 2010005E08Rik

MMRRC Submission

044184-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R6007 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87826813-87830979 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87829705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 97 (Y97C)

Ref Sequence

ENSEMBL: ENSMUSP00000112885 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005016] [ENSMUST00000019854] [ENSMUST00000119968] [ENSMUST00000121048] [ENSMUST00000121920] [ENSMUST00000137775] [ENSMUST00000160143] [ENSMUST00000160074] [ENSMUST00000164439] [ENSMUST00000160648]

AlphaFold

Q9CQ06

Predicted Effect

probably benign
Transcript: ENSMUST00000005016

SMART Domains

Protein: ENSMUSP00000005016
Gene: ENSMUSG00000004896

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_32	133	293	1.5e-29	PFAM
low complexity region	385	402	N/A	INTRINSIC
low complexity region	412	426	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000019854
AA Change: Y97C

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000019854
Gene: ENSMUSG00000019710
AA Change: Y97C

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
KOW	55	82	7.17e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119968
AA Change: Y97C

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000114111
Gene: ENSMUSG00000019710
AA Change: Y97C

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
KOW	55	82	7.17e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121048
AA Change: Y97C

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000113959
Gene: ENSMUSG00000019710
AA Change: Y97C

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
KOW	55	82	7.17e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121920
AA Change: Y97C

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000112885
Gene: ENSMUSG00000019710
AA Change: Y97C

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
KOW	55	82	7.17e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000137775

SMART Domains

Protein: ENSMUSP00000142071
Gene: ENSMUSG00000019710

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
PDB:4CE4\|Y	17	62	5e-21	PDB
SCOP:d1jj2s_	24	54	2e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152287

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160068

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161014

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168070

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159831

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161471

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159967

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159091

Predicted Effect

probably benign
Transcript: ENSMUST00000160143

SMART Domains

Protein: ENSMUSP00000124113
Gene: ENSMUSG00000004896

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_32	133	247	5e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160074

SMART Domains

Protein: ENSMUSP00000125365
Gene: ENSMUSG00000004896

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_32	69	229	1.3e-29	PFAM
low complexity region	321	338	N/A	INTRINSIC
low complexity region	348	362	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164439

Predicted Effect

probably benign
Transcript: ENSMUST00000160648

Meta Mutation Damage Score

0.2445

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.1%
20x: 90.6%

Validation Efficiency

100% (54/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein which is more than twice the size of its E.coli counterpart (EcoL24). Sequence analysis identified two transcript variants that encode the same protein. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	G	T	6: 83,137,900 (GRCm39)	A9S	possibly damaging	Het
4930407I10Rik	C	G	15: 81,946,940 (GRCm39)	T279S	probably benign	Het
A830018L16Rik	A	G	1: 11,582,140 (GRCm39)		probably null	Het
Abcg5	T	G	17: 84,976,392 (GRCm39)	I482L	probably benign	Het
Adgrf5	T	A	17: 43,748,462 (GRCm39)	D44E	probably damaging	Het
Amh	A	G	10: 80,641,305 (GRCm39)	N75S	probably benign	Het
Arl8a	T	C	1: 135,080,606 (GRCm39)		probably null	Het
Bpifb4	T	C	2: 153,784,480 (GRCm39)	Y63H	possibly damaging	Het
Chd5	A	T	4: 152,463,878 (GRCm39)	E1449V	probably null	Het
Chml	A	G	1: 175,515,594 (GRCm39)	V109A	probably benign	Het
Crybg3	G	T	16: 59,374,837 (GRCm39)	S2139*	probably null	Het
Cyp2c68	T	C	19: 39,722,780 (GRCm39)	D256G	probably damaging	Het
Dchs2	G	T	3: 83,253,534 (GRCm39)	V2315L	probably damaging	Het
Ddx20	T	C	3: 105,590,736 (GRCm39)	I227V	possibly damaging	Het
Drg2	T	C	11: 60,353,451 (GRCm39)	V266A	possibly damaging	Het
Flcn	C	A	11: 59,683,448 (GRCm39)	E576D	probably benign	Het
Fstl5	T	A	3: 76,317,899 (GRCm39)	D188E	probably damaging	Het
Gm14496	A	G	2: 181,639,323 (GRCm39)	Q471R	probably benign	Het
Gm43772	T	C	5: 66,332,334 (GRCm39)		probably benign	Het
Gpc6	C	T	14: 118,188,673 (GRCm39)	H436Y	probably damaging	Het
Gpr179	A	T	11: 97,226,628 (GRCm39)	C1842*	probably null	Het
Ints8	G	A	4: 11,208,845 (GRCm39)	T934I	possibly damaging	Het
Iqsec1	G	T	6: 90,637,969 (GRCm39)	C1050*	probably null	Het
Larp4b	T	C	13: 9,218,793 (GRCm39)	V510A	probably benign	Het
Map3k13	A	T	16: 21,723,933 (GRCm39)	D305V	possibly damaging	Het
Mc5r	A	T	18: 68,472,318 (GRCm39)	I226F	possibly damaging	Het
Mme	G	A	3: 63,250,929 (GRCm39)	W323*	probably null	Het
Mslnl	G	A	17: 25,965,749 (GRCm39)	S541N	probably benign	Het
Npepl1	T	C	2: 173,962,850 (GRCm39)	V412A	probably benign	Het
Nrg3	T	A	14: 39,194,409 (GRCm39)	K117*	probably null	Het
Or11j4	G	T	14: 50,630,948 (GRCm39)	C245F	probably damaging	Het
Or4f52	T	C	2: 111,061,275 (GRCm39)	T288A	probably benign	Het
Orc2	A	T	1: 58,506,851 (GRCm39)	M447K	probably benign	Het
Phf3	A	T	1: 30,843,426 (GRCm39)	H1844Q	probably damaging	Het
Plxnc1	T	C	10: 94,629,152 (GRCm39)	I1541V	possibly damaging	Het
Rapgef4	T	C	2: 72,010,293 (GRCm39)	Y284H	possibly damaging	Het
Rnf180	C	A	13: 105,317,957 (GRCm39)		probably null	Het
Secisbp2	T	C	13: 51,819,395 (GRCm39)	I325T	probably damaging	Het
Sertad2	G	A	11: 20,597,884 (GRCm39)	G27S	probably benign	Het
Slc4a10	A	G	2: 62,099,216 (GRCm39)	M625V	probably benign	Het
Synpo	T	A	18: 60,736,687 (GRCm39)	M420L	probably benign	Het
Tmem116	A	C	5: 121,655,955 (GRCm39)	*147C	probably null	Het
Top2b	G	A	14: 16,423,779 (GRCm38)		probably null	Het
Trp53bp2	T	A	1: 182,283,305 (GRCm39)	C1014S	probably damaging	Het
Unc5b	A	G	10: 60,601,139 (GRCm39)	F896L	probably damaging	Het
Vil1	T	C	1: 74,459,026 (GRCm39)	W177R	probably damaging	Het
Vmn2r107	A	T	17: 20,595,316 (GRCm39)	Y623F	probably benign	Het
Vmn2r86	T	C	10: 130,289,535 (GRCm39)	Y120C	probably damaging	Het
Wdr18	A	G	10: 79,801,177 (GRCm39)	T197A	possibly damaging	Het
Ylpm1	A	G	12: 85,076,064 (GRCm39)	M472V	probably benign	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zfp677	A	G	17: 21,617,918 (GRCm39)	Y325C	probably damaging	Het
Zfyve1	A	G	12: 83,605,478 (GRCm39)	F407S	probably damaging	Het

Other mutations in Mrpl24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00955:Mrpl24	APN	3	87,829,526 (GRCm39)	nonsense	probably null
R1466:Mrpl24	UTSW	3	87,829,235 (GRCm39)	nonsense	probably null
R1466:Mrpl24	UTSW	3	87,829,235 (GRCm39)	nonsense	probably null
R1467:Mrpl24	UTSW	3	87,829,744 (GRCm39)	missense	probably benign	0.00
R1467:Mrpl24	UTSW	3	87,829,744 (GRCm39)	missense	probably benign	0.00
R2070:Mrpl24	UTSW	3	87,830,374 (GRCm39)	critical splice donor site	probably null
R2071:Mrpl24	UTSW	3	87,830,374 (GRCm39)	critical splice donor site	probably null
R4537:Mrpl24	UTSW	3	87,829,719 (GRCm39)	missense	probably benign	0.30
R4628:Mrpl24	UTSW	3	87,829,436 (GRCm39)	splice site	probably null
R4785:Mrpl24	UTSW	3	87,829,357 (GRCm39)	critical splice donor site	probably null
R5841:Mrpl24	UTSW	3	87,830,292 (GRCm39)	missense	probably damaging	1.00
R7513:Mrpl24	UTSW	3	87,829,734 (GRCm39)	missense	probably benign	0.07
R8826:Mrpl24	UTSW	3	87,829,701 (GRCm39)	nonsense	probably null
X0064:Mrpl24	UTSW	3	87,829,735 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AGTAGTCCAAGTCGTTCGGC -3'
(R):5'- AACACATTAGTCTGATGTACCCC -3'

Sequencing Primer
(F):5'- AGCGAAACTGGGTTGTCC -3'
(R):5'- GATGTACCCCACCCTGTCTGAAC -3'

Posted On

2017-06-26