Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00904:Mrpl55'

28493

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mrpl55

Ensembl Gene

ENSMUSG00000036860

Gene Name

mitochondrial ribosomal protein L55

Synonyms

2810038N09Rik

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL00904

Quality Score

Status

Chromosome

Chromosomal Location

59093312-59096960 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59096499 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 84 (S84T)

Ref Sequence

ENSEMBL: ENSMUSP00000104413 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020719] [ENSMUST00000045697] [ENSMUST00000108784] [ENSMUST00000108785] [ENSMUST00000108786] [ENSMUST00000108787]

AlphaFold

Q9CZ83

Predicted Effect

probably benign
Transcript: ENSMUST00000020719

SMART Domains

Protein: ENSMUSP00000020719
Gene: ENSMUSG00000020441

Domain	Start	End	E-Value	Type
Pfam:MMtag	8	83	5.7e-34	PFAM
low complexity region	117	135	N/A	INTRINSIC
low complexity region	180	208	N/A	INTRINSIC
low complexity region	215	224	N/A	INTRINSIC
low complexity region	250	260	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000045697
AA Change: S84T

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000048814
Gene: ENSMUSG00000036860
AA Change: S84T

Domain	Start	End	E-Value	Type
Pfam:Mitoc_L55	6	124	9.7e-56	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000101158

Predicted Effect

probably benign
Transcript: ENSMUST00000108784
AA Change: S91T

PolyPhen 2 Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000104412
Gene: ENSMUSG00000036860
AA Change: S91T

Domain	Start	End	E-Value	Type
Pfam:Mitoc_L55	16	131	6.6e-61	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108785
AA Change: S84T

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000104413
Gene: ENSMUSG00000036860
AA Change: S84T

Domain	Start	End	E-Value	Type
Pfam:Mitoc_L55	6	124	9.7e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108786
AA Change: S91T

PolyPhen 2 Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000104414
Gene: ENSMUSG00000036860
AA Change: S91T

Domain	Start	End	E-Value	Type
Pfam:Mitoc_L55	13	131	4.4e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108787
AA Change: S91T

PolyPhen 2 Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000104415
Gene: ENSMUSG00000036860
AA Change: S91T

Domain	Start	End	E-Value	Type
Pfam:Mitoc_L55	13	131	4.4e-55	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154354

Coding Region Coverage

Validation Efficiency

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. Multiple transcript variants encoding two different isoforms were identified through sequence analysis. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	G	T	6: 86,923,135 (GRCm39)	G236C	probably damaging	Het
Abi1	C	T	2: 22,831,942 (GRCm39)	R404Q	possibly damaging	Het
Atp8b3	C	T	10: 80,364,598 (GRCm39)	G532R	probably damaging	Het
Bysl	C	T	17: 47,912,796 (GRCm39)	M331I	probably benign	Het
Ccdc121rt3	G	A	5: 112,502,994 (GRCm39)	R237*	probably null	Het
Cndp1	A	G	18: 84,629,790 (GRCm39)	S468P	probably benign	Het
Esd	A	G	14: 74,987,128 (GRCm39)	*266W	probably null	Het
F5	T	C	1: 164,021,578 (GRCm39)	V1351A	probably benign	Het
Fchsd2	A	G	7: 100,920,829 (GRCm39)	D454G	probably benign	Het
Fndc1	T	A	17: 7,975,195 (GRCm39)	M1415L	probably benign	Het
Ghr	T	A	15: 3,357,602 (GRCm39)	Y222F	probably benign	Het
Gtf3c2	C	T	5: 31,330,202 (GRCm39)	S299N	probably damaging	Het
Ice1	C	T	13: 70,750,408 (GRCm39)	D93N	probably damaging	Het
Ints7	T	A	1: 191,328,276 (GRCm39)		probably null	Het
Kif18a	A	G	2: 109,122,471 (GRCm39)	D182G	probably damaging	Het
Mcm9	A	T	10: 53,499,017 (GRCm39)	H308Q	possibly damaging	Het
Mesp2	A	G	7: 79,462,401 (GRCm39)	D319G	probably benign	Het
Mybpc3	T	C	2: 90,950,374 (GRCm39)	V123A	probably benign	Het
Myom1	T	C	17: 71,406,944 (GRCm39)		probably benign	Het
Nfia	C	T	4: 97,953,623 (GRCm39)	P325S	probably damaging	Het
Notch4	T	C	17: 34,794,535 (GRCm39)		probably null	Het
Npepps	A	C	11: 97,149,132 (GRCm39)	V130G	probably damaging	Het
Or7c70	A	T	10: 78,683,597 (GRCm39)	S51T	probably damaging	Het
Pja2	G	T	17: 64,590,526 (GRCm39)	T669K	probably damaging	Het
Rnf112	G	T	11: 61,343,610 (GRCm39)	D98E	probably damaging	Het
Rsl1d1	G	A	16: 11,017,558 (GRCm39)	T136I	probably damaging	Het
Samsn1	A	T	16: 75,706,008 (GRCm39)		probably benign	Het
Slc6a9	T	C	4: 117,721,814 (GRCm39)	L280P	probably damaging	Het
Svep1	T	C	4: 58,097,398 (GRCm39)	N1382D	probably benign	Het
Vmn2r100	T	G	17: 19,746,262 (GRCm39)	C474G	probably damaging	Het
Vmn2r74	C	T	7: 85,606,788 (GRCm39)	R186H	probably benign	Het
Wdr7	T	C	18: 63,929,302 (GRCm39)	I1046T	probably benign	Het

Other mutations in Mrpl55

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R5649:Mrpl55	UTSW	11	59,095,397 (GRCm39)	nonsense	probably null
R9257:Mrpl55	UTSW	11	59,096,578 (GRCm39)	missense	probably benign	0.00
R9438:Mrpl55	UTSW	11	59,096,581 (GRCm39)	missense	probably damaging	1.00
Z1186:Mrpl55	UTSW	11	59,095,415 (GRCm39)	missense	probably benign
Z1186:Mrpl55	UTSW	11	59,094,999 (GRCm39)	critical splice acceptor site	probably null
Z1187:Mrpl55	UTSW	11	59,095,415 (GRCm39)	missense	probably benign
Z1187:Mrpl55	UTSW	11	59,094,999 (GRCm39)	critical splice acceptor site	probably null
Z1188:Mrpl55	UTSW	11	59,095,415 (GRCm39)	missense	probably benign
Z1188:Mrpl55	UTSW	11	59,094,999 (GRCm39)	critical splice acceptor site	probably null
Z1189:Mrpl55	UTSW	11	59,095,415 (GRCm39)	missense	probably benign
Z1189:Mrpl55	UTSW	11	59,094,999 (GRCm39)	critical splice acceptor site	probably null
Z1190:Mrpl55	UTSW	11	59,095,415 (GRCm39)	missense	probably benign
Z1190:Mrpl55	UTSW	11	59,094,999 (GRCm39)	critical splice acceptor site	probably null
Z1191:Mrpl55	UTSW	11	59,095,415 (GRCm39)	missense	probably benign
Z1191:Mrpl55	UTSW	11	59,094,999 (GRCm39)	critical splice acceptor site	probably null
Z1192:Mrpl55	UTSW	11	59,095,415 (GRCm39)	missense	probably benign
Z1192:Mrpl55	UTSW	11	59,094,999 (GRCm39)	critical splice acceptor site	probably null

Posted On

2013-04-17