Mutagenetix > Incidental Mutation

Incidental Mutation 'R6824:Mrpl9'

534038

Institutional Source

Beutler Lab

Gene Symbol

Mrpl9

Ensembl Gene

ENSMUSG00000028140

Gene Name

mitochondrial ribosomal protein L9

Synonyms

C330013D18Rik, 8030480E20Rik

MMRRC Submission

044936-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R6824 (G1)

Quality Score

218.009

Status

Validated

Chromosome

Chromosomal Location

94350631-94355831 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 94350677 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Histidine at position 7 (P7H)

Ref Sequence

ENSEMBL: ENSMUSP00000142859 (fasta)

Gene Model

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

AlphaFold

Q99N94

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029786
AA Change: P7H

PolyPhen 2 Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000029786
Gene: ENSMUSG00000028140
AA Change: P7H

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000196143
AA Change: P7H

PolyPhen 2 Score 0.641 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000142859
Gene: ENSMUSG00000028140
AA Change: P7H

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

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

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (47/47)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck2	A	G	6: 39,552,058 (GRCm39)	D275G	probably benign	Het
Cdh4	G	A	2: 179,439,351 (GRCm39)	R166H	probably damaging	Het
Chl1	A	G	6: 103,691,510 (GRCm39)	K1051E	probably damaging	Het
Chn2	A	T	6: 54,249,938 (GRCm39)	M16L	probably benign	Het
Cmas	A	G	6: 142,716,962 (GRCm39)	T285A	possibly damaging	Het
Cnga4	A	T	7: 105,056,036 (GRCm39)	M213L	probably benign	Het
Ctif	C	T	18: 75,654,782 (GRCm39)	R248Q	probably damaging	Het
Cyth3	T	C	5: 143,672,265 (GRCm39)	I60T	probably damaging	Het
Dach1	A	G	14: 98,256,328 (GRCm39)	I310T	possibly damaging	Het
Defb6	T	C	8: 19,278,099 (GRCm39)	I57T	probably benign	Het
Dnajc27	T	C	12: 4,156,897 (GRCm39)	V262A	possibly damaging	Het
Emsy	G	A	7: 98,242,614 (GRCm39)	T1175M	probably benign	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fam50b	G	A	13: 34,931,084 (GRCm39)	E187K	possibly damaging	Het
Fat4	T	A	3: 39,011,674 (GRCm39)	V2258E	probably benign	Het
Gm136	G	A	4: 34,746,591 (GRCm39)	T140I	probably benign	Het
Gps1	T	C	11: 120,678,254 (GRCm39)	F265S	probably damaging	Het
Grik5	C	T	7: 24,745,780 (GRCm39)	R431Q	possibly damaging	Het
Hnrnpul2	T	C	19: 8,804,081 (GRCm39)	V560A	possibly damaging	Het
Kmt2b	A	G	7: 30,285,701 (GRCm39)		probably benign	Het
Krt8	T	C	15: 101,906,875 (GRCm39)	N317S	possibly damaging	Het
Lad1	A	G	1: 135,755,479 (GRCm39)	T252A	probably benign	Het
Maml2	G	A	9: 13,608,513 (GRCm39)	S743N	possibly damaging	Het
Myb	T	A	10: 21,021,019 (GRCm39)	H470L	probably benign	Het
Nicol1	T	C	5: 34,141,069 (GRCm39)		probably benign	Het
Nr1i3	T	C	1: 171,042,542 (GRCm39)	I56T	probably benign	Het
Nrdc	A	G	4: 108,900,622 (GRCm39)	Y338C	probably damaging	Het
Or13n4	A	G	7: 106,423,664 (GRCm39)	V23A	probably benign	Het
Pcdhb20	T	A	18: 37,638,752 (GRCm39)	M426K	probably benign	Het
Pde6d	T	C	1: 86,473,485 (GRCm39)	T104A	possibly damaging	Het
Ptprz1	A	T	6: 23,002,130 (GRCm39)	T1407S	probably benign	Het
Recql5	C	T	11: 115,814,038 (GRCm39)	R369Q	possibly damaging	Het
Rnf180	T	A	13: 105,318,023 (GRCm39)	D463V	probably damaging	Het
Sart3	C	T	5: 113,882,600 (GRCm39)		probably null	Het
Sdk2	T	C	11: 113,758,760 (GRCm39)	D488G	probably benign	Het
Slc9a9	C	T	9: 95,109,251 (GRCm39)	P538S	probably damaging	Het
Snap29	A	G	16: 17,240,370 (GRCm39)	K159E	probably benign	Het
Spaca1	A	G	4: 34,049,869 (GRCm39)	V43A	probably benign	Het
Stk10	T	C	11: 32,537,363 (GRCm39)	S191P	probably damaging	Het
Tbc1d1	A	G	5: 64,414,245 (GRCm39)	H73R	probably benign	Het
Tcerg1l	A	G	7: 137,995,844 (GRCm39)		probably null	Het
Tmem67	T	C	4: 12,051,449 (GRCm39)	Y793C	probably damaging	Het
Ttll12	A	T	15: 83,475,578 (GRCm39)		probably null	Het
Vmn2r61	G	T	7: 41,949,403 (GRCm39)	V608L	probably benign	Het
Xpo4	A	T	14: 57,850,860 (GRCm39)	I348N	probably damaging	Het
Zfp941	G	A	7: 140,392,612 (GRCm39)	T249M	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
IGL02976:Mrpl9	APN	3	94,355,084 (GRCm39)	unclassified	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- AAAAGCAGTTCTCTCCGCTGTC -3'
(R):5'- AGTGTCCGCAGAGAACAAC -3'

Sequencing Primer
(F):5'- TCCTATCGTCGGCGTGCAAG -3'
(R):5'- AGTCTGAGTCTGGCACGAAC -3'

Posted On

2018-09-12