Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01386:Mrpl11'

79053

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mrpl11

Ensembl Gene

ENSMUSG00000024902

Gene Name

mitochondrial ribosomal protein L11

Synonyms

2410001P07Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.909) question?

Stock #

IGL01386

Quality Score

Status

Chromosome

Chromosomal Location

5012180-5017023 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 5013409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Threonine at position 92 (K92T)

Ref Sequence

ENSEMBL: ENSMUSP00000025836 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025836]

AlphaFold

Q9CQF0

Predicted Effect

probably null
Transcript: ENSMUST00000025836
AA Change: K92T

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

SMART Domains

Protein: ENSMUSP00000025836
Gene: ENSMUSG00000024902
AA Change: K92T

Domain	Start	End	E-Value	Type
RL11	20	156	7e-66	SMART
low complexity region	175	191	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 nuclear gene encodes a 39S subunit component of the mitochondial ribosome. Alternative splicing results in multiple transcript variants. Pseudogenes for this gene are found on chromosomes 5 and 12. [provided by RefSeq, May 2014]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	T	C	12: 80,240,446 (GRCm39)	R214G	probably benign	Het
Cacna1e	T	A	1: 154,348,123 (GRCm39)	K817N	probably benign	Het
Cyp3a16	A	G	5: 145,377,244 (GRCm39)	F448L	probably damaging	Het
Dpp6	T	A	5: 27,869,760 (GRCm39)		probably null	Het
Eif2ak3	C	T	6: 70,869,710 (GRCm39)	T799M	probably damaging	Het
Erbb4	A	T	1: 68,383,090 (GRCm39)	S302R	probably damaging	Het
Fam217a	T	A	13: 35,099,632 (GRCm39)		probably benign	Het
Flt4	C	A	11: 49,528,162 (GRCm39)	A995D	probably benign	Het
Fpr-rs7	G	A	17: 20,334,454 (GRCm39)	S12L	probably damaging	Het
Fsd1	C	T	17: 56,303,733 (GRCm39)	S491F	probably damaging	Het
Hpcal4	T	C	4: 123,083,035 (GRCm39)		probably null	Het
Intu	A	T	3: 40,647,017 (GRCm39)	D630V	probably damaging	Het
Jak3	A	G	8: 72,136,933 (GRCm39)	D703G	probably damaging	Het
Lama4	A	G	10: 38,887,060 (GRCm39)	I122V	probably benign	Het
Mtarc2	A	G	1: 184,551,413 (GRCm39)		probably benign	Het
Mylk	A	G	16: 34,791,610 (GRCm39)		probably null	Het
Or52ab4	A	T	7: 102,987,974 (GRCm39)	K238*	probably null	Het
Parpbp	A	C	10: 87,975,848 (GRCm39)	Y88*	probably null	Het
Plod2	G	A	9: 92,488,655 (GRCm39)	R627Q	probably damaging	Het
Rapsn	G	T	2: 90,867,144 (GRCm39)	A149S	probably damaging	Het
Ripk3	T	G	14: 56,023,484 (GRCm39)	Q109P	probably damaging	Het
Scaf11	T	C	15: 96,318,361 (GRCm39)	D401G	probably damaging	Het
Serpine2	G	A	1: 79,779,268 (GRCm39)	T150I	probably damaging	Het
Sh2d6	T	A	6: 72,495,945 (GRCm39)	T98S	probably benign	Het
Slc28a1	G	T	7: 80,814,427 (GRCm39)	A513S	probably benign	Het
Tanc2	T	C	11: 105,777,207 (GRCm39)	F795S	probably damaging	Het
Tcim	T	A	8: 24,928,705 (GRCm39)	I70F	probably benign	Het
Thbd	G	A	2: 148,249,602 (GRCm39)	Q89*	probably null	Het
Tmem115	C	T	9: 107,411,859 (GRCm39)	T61I	probably damaging	Het
Tsc2	A	T	17: 24,832,259 (GRCm39)	V650E	probably damaging	Het
Tubgcp6	A	T	15: 88,992,199 (GRCm39)	Y595*	probably null	Het
Uroc1	C	T	6: 90,323,747 (GRCm39)	A398V	probably damaging	Het
Vmn1r31	T	C	6: 58,449,587 (GRCm39)	T93A	probably benign	Het
Vmn2r113	A	G	17: 23,175,024 (GRCm39)	E545G	possibly damaging	Het
Vps13a	A	G	19: 16,678,516 (GRCm39)	V1155A	possibly damaging	Het
Zfp667	A	G	7: 6,307,869 (GRCm39)	H179R	probably benign	Het

Other mutations in Mrpl11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01538:Mrpl11	APN	19	5,013,449 (GRCm39)	critical splice donor site	probably null
IGL02001:Mrpl11	APN	19	5,013,680 (GRCm39)	nonsense	probably null
R1013:Mrpl11	UTSW	19	5,013,651 (GRCm39)	missense	possibly damaging	0.76
R2155:Mrpl11	UTSW	19	5,012,497 (GRCm39)	missense	probably damaging	1.00
R2156:Mrpl11	UTSW	19	5,012,497 (GRCm39)	missense	probably damaging	1.00
R6061:Mrpl11	UTSW	19	5,013,397 (GRCm39)	missense	possibly damaging	0.92
R6209:Mrpl11	UTSW	19	5,014,743 (GRCm39)	missense	probably damaging	0.96
R7672:Mrpl11	UTSW	19	5,012,424 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-11-05