Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02976:Mrpl9'

406411

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mrpl9

Ensembl Gene

ENSMUSG00000028140

Gene Name

mitochondrial ribosomal protein L9

Synonyms

C330013D18Rik, 8030480E20Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

IGL02976

Quality Score

Status

Chromosome

Chromosomal Location

94350631-94355831 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 94355084 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145079 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029786] [ENSMUST00000196143] [ENSMUST00000203883] [ENSMUST00000204548]

AlphaFold

Q99N94

Predicted Effect

probably benign
Transcript: ENSMUST00000029786

SMART Domains

Protein: ENSMUSP00000029786
Gene: ENSMUSG00000028140

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L9_N	91	138	4.3e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196143

SMART Domains

Protein: ENSMUSP00000142859
Gene: ENSMUSG00000028140

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L9_N	91	138	5.2e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199009

Predicted Effect

probably benign
Transcript: ENSMUST00000203883

SMART Domains

Protein: ENSMUSP00000145484
Gene: ENSMUSG00000028141

Domain	Start	End	E-Value	Type
low complexity region	26	44	N/A	INTRINSIC
Pfam:ODC_AZ	91	189	4.3e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204548

SMART Domains

Protein: ENSMUSP00000145079
Gene: ENSMUSG00000028141

Domain	Start	End	E-Value	Type
low complexity region	26	44	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This is a nuclear gene encoding a protein component of the 39S subunit of the mitochondrial ribosome. Alternative splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8. [provided by RefSeq, Jul 2014]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	A	G	9: 101,816,845 (GRCm39)	T84A	possibly damaging	Het
Adgrd1	T	A	5: 129,208,661 (GRCm39)	S288T	probably benign	Het
Ano7	T	A	1: 93,330,395 (GRCm39)	D806E	possibly damaging	Het
Arl6	A	G	16: 59,444,259 (GRCm39)	L79P	probably damaging	Het
Card6	A	T	15: 5,129,310 (GRCm39)	C695*	probably null	Het
Carmil1	T	C	13: 24,276,534 (GRCm39)	N610S	possibly damaging	Het
Cdc40	A	G	10: 40,758,917 (GRCm39)	V52A	probably benign	Het
Chd4	G	A	6: 125,098,331 (GRCm39)	R369H	probably damaging	Het
Clasp2	C	T	9: 113,735,204 (GRCm39)	P1031L	probably damaging	Het
Cldn34d	C	T	X: 75,626,690 (GRCm39)	A121T	probably benign	Het
Clmp	A	C	9: 40,692,520 (GRCm39)	Y263S	possibly damaging	Het
Cntn5	A	G	9: 10,419,104 (GRCm39)		probably benign	Het
Folh1	A	T	7: 86,412,126 (GRCm39)	M215K	probably benign	Het
Fut1	C	T	7: 45,268,744 (GRCm39)	R233C	probably damaging	Het
Gcdh	A	C	8: 85,615,207 (GRCm39)	Y398D	probably damaging	Het
Gm26741	T	G	10: 52,234,910 (GRCm39)	S16R	possibly damaging	Het
Jph3	T	A	8: 122,479,823 (GRCm39)	L167Q	probably damaging	Het
Jup	A	G	11: 100,269,192 (GRCm39)	V407A	probably benign	Het
Kif17	C	T	4: 137,996,374 (GRCm39)	A117V	probably damaging	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Magi2	C	T	5: 20,739,473 (GRCm39)	P349S	probably damaging	Het
Mlycd	T	C	8: 120,128,224 (GRCm39)	M177T	possibly damaging	Het
Mocos	A	G	18: 24,799,626 (GRCm39)	K287E	possibly damaging	Het
Morc2b	T	A	17: 33,356,497 (GRCm39)	H425L	possibly damaging	Het
Myo3a	G	A	2: 22,434,494 (GRCm39)	W825*	probably null	Het
Npas2	T	C	1: 39,326,565 (GRCm39)	S17P	probably damaging	Het
Nrk	A	G	X: 137,892,817 (GRCm39)	I1174V	probably benign	Het
Or1e32	A	G	11: 73,705,143 (GRCm39)	I255T	probably damaging	Het
Or4d11	A	T	19: 12,013,337 (GRCm39)	Y256*	probably null	Het
Or4k2	G	A	14: 50,423,889 (GRCm39)	Q262*	probably null	Het
Parpbp	A	G	10: 87,947,456 (GRCm39)		probably null	Het
Pcdh10	T	C	3: 45,334,448 (GRCm39)	V254A	possibly damaging	Het
Plod1	C	T	4: 147,997,778 (GRCm39)	V644I	probably damaging	Het
Ptpn1	T	C	2: 167,813,704 (GRCm39)	V149A	probably benign	Het
Rassf4	T	C	6: 116,615,209 (GRCm39)	E320G	probably damaging	Het
Rgl2	T	A	17: 34,152,936 (GRCm39)	D448E	possibly damaging	Het
Rnf32	C	T	5: 29,411,710 (GRCm39)		probably null	Het
Rpa1	T	A	11: 75,203,628 (GRCm39)	D358V	probably damaging	Het
Sdk2	T	C	11: 113,742,668 (GRCm39)	N747S	probably damaging	Het
Slc17a4	A	C	13: 24,089,407 (GRCm39)	M170R	probably damaging	Het
Slc5a4a	G	A	10: 76,006,527 (GRCm39)	V310M	possibly damaging	Het
Spag9	G	A	11: 93,974,779 (GRCm39)	R463H	probably benign	Het
Spmip5	A	T	19: 58,777,552 (GRCm39)	V78E	probably benign	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Syt10	A	G	15: 89,698,682 (GRCm39)	S221P	probably benign	Het
Tlk1	T	A	2: 70,551,935 (GRCm39)	K579*	probably null	Het
Tubgcp3	T	C	8: 12,682,300 (GRCm39)	Y673C	probably damaging	Het
Vmn1r223	T	C	13: 23,434,165 (GRCm39)	F253S	probably damaging	Het
Vmn2r83	T	C	10: 79,304,832 (GRCm39)	M14T	probably benign	Het
Zfp59	A	G	7: 27,552,821 (GRCm39)	D91G	probably benign	Het

Other mutations in Mrpl9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00590:Mrpl9	APN	3	94,351,003 (GRCm39)	missense	probably damaging	1.00
IGL01609:Mrpl9	APN	3	94,352,001 (GRCm39)	missense	probably damaging	1.00
IGL02131:Mrpl9	APN	3	94,352,020 (GRCm39)	critical splice donor site	probably null
IGL02212:Mrpl9	APN	3	94,351,124 (GRCm39)	splice site	probably null
PIT4382001:Mrpl9	UTSW	3	94,355,136 (GRCm39)	missense	probably benign
R0445:Mrpl9	UTSW	3	94,352,198 (GRCm39)	unclassified	probably benign
R2424:Mrpl9	UTSW	3	94,351,113 (GRCm39)	missense	probably benign	0.08
R2914:Mrpl9	UTSW	3	94,351,108 (GRCm39)	missense	probably damaging	0.99
R3119:Mrpl9	UTSW	3	94,355,097 (GRCm39)	missense	probably damaging	1.00
R3724:Mrpl9	UTSW	3	94,355,073 (GRCm39)	splice site	probably null
R5801:Mrpl9	UTSW	3	94,355,103 (GRCm39)	missense	possibly damaging	0.91
R6286:Mrpl9	UTSW	3	94,351,097 (GRCm39)	missense	probably benign	0.07
R6767:Mrpl9	UTSW	3	94,357,528 (GRCm39)	unclassified	probably benign
R6824:Mrpl9	UTSW	3	94,350,677 (GRCm39)	missense	possibly damaging	0.64
R7130:Mrpl9	UTSW	3	94,354,597 (GRCm39)	missense	probably benign	0.09
R7705:Mrpl9	UTSW	3	94,351,075 (GRCm39)	missense	possibly damaging	0.52
R8052:Mrpl9	UTSW	3	94,351,050 (GRCm39)	missense	probably damaging	0.96
R8744:Mrpl9	UTSW	3	94,355,082 (GRCm39)	unclassified	probably benign
R8765:Mrpl9	UTSW	3	94,355,129 (GRCm39)	missense	possibly damaging	0.95
R9084:Mrpl9	UTSW	3	94,354,558 (GRCm39)	unclassified	probably benign
R9214:Mrpl9	UTSW	3	94,355,126 (GRCm39)	missense	possibly damaging	0.95
R9701:Mrpl9	UTSW	3	94,351,892 (GRCm39)	critical splice acceptor site	probably null
Z1177:Mrpl9	UTSW	3	94,350,680 (GRCm39)	missense	probably benign	0.01

Posted On

2016-08-02