Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01453:Rpl27a'

84707

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rpl27a

Ensembl Gene

ENSMUSG00000046364

Gene Name

ribosomal protein L27A

Synonyms

ribosomal protein L29 homolog (yeast), L27A, L27'

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01453

Quality Score

Status

Chromosome

Chromosomal Location

109118354-109121574 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 109118832 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 15 (V15E)

Ref Sequence

ENSEMBL: ENSMUSP00000123410 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077909] [ENSMUST00000079282] [ENSMUST00000084738] [ENSMUST00000143107] [ENSMUST00000156921] [ENSMUST00000168005]

AlphaFold

P14115

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000053298

Predicted Effect

probably benign
Transcript: ENSMUST00000077909

SMART Domains

Protein: ENSMUSP00000077067
Gene: ENSMUSG00000031024

Domain	Start	End	E-Value	Type
low complexity region	28	46	N/A	INTRINSIC
low complexity region	197	213	N/A	INTRINSIC
low complexity region	314	326	N/A	INTRINSIC
low complexity region	327	348	N/A	INTRINSIC
low complexity region	365	379	N/A	INTRINSIC
low complexity region	407	426	N/A	INTRINSIC
low complexity region	577	609	N/A	INTRINSIC
low complexity region	624	638	N/A	INTRINSIC
low complexity region	645	656	N/A	INTRINSIC
uDENN	690	781	1.16e-30	SMART
DENN	788	972	7.84e-78	SMART
low complexity region	1007	1014	N/A	INTRINSIC
dDENN	1019	1086	3.12e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000079282

SMART Domains

Protein: ENSMUSP00000078264
Gene: ENSMUSG00000031024

Domain	Start	End	E-Value	Type
low complexity region	28	46	N/A	INTRINSIC
low complexity region	197	213	N/A	INTRINSIC
low complexity region	314	326	N/A	INTRINSIC
low complexity region	327	348	N/A	INTRINSIC
low complexity region	365	379	N/A	INTRINSIC
low complexity region	407	426	N/A	INTRINSIC
low complexity region	577	609	N/A	INTRINSIC
low complexity region	624	638	N/A	INTRINSIC
low complexity region	645	656	N/A	INTRINSIC
uDENN	690	781	1.16e-30	SMART
DENN	788	972	7.84e-78	SMART
low complexity region	1007	1014	N/A	INTRINSIC
dDENN	1019	1086	3.12e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083082

Predicted Effect

probably benign
Transcript: ENSMUST00000084738

SMART Domains

Protein: ENSMUSP00000081789
Gene: ENSMUSG00000031024

Domain	Start	End	E-Value	Type
low complexity region	160	192	N/A	INTRINSIC
low complexity region	207	221	N/A	INTRINSIC
low complexity region	228	239	N/A	INTRINSIC
uDENN	273	364	1.16e-30	SMART
DENN	371	555	7.84e-78	SMART
low complexity region	590	597	N/A	INTRINSIC
dDENN	602	669	3.12e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104387

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132877

Predicted Effect

probably benign
Transcript: ENSMUST00000143107
AA Change: V15E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000123410
Gene: ENSMUSG00000046364
AA Change: V15E

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L18e	26	146	7.2e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149143

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174303

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198845

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207664

Predicted Effect

probably benign
Transcript: ENSMUST00000156921

Predicted Effect

probably benign
Transcript: ENSMUST00000168005

SMART Domains

Protein: ENSMUSP00000130119
Gene: ENSMUSG00000031024

Domain	Start	End	E-Value	Type
low complexity region	160	192	N/A	INTRINSIC
low complexity region	207	221	N/A	INTRINSIC
low complexity region	228	239	N/A	INTRINSIC
uDENN	273	364	1.16e-30	SMART
DENN	371	555	7.84e-78	SMART
low complexity region	590	597	N/A	INTRINSIC
dDENN	602	669	3.12e-22	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L15P family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, multiple processed pseudogenes derived from this gene are dispersed through the genome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for an ENU-induced allele die before E7.5. Heterozygotes show partial postnatal lethality, retarded growth, cerebellar ataxia, small cerebella, spleens and thymi, hyperpigmentation of the tail, feet, ears and genital areas, pancytopenia, anemia, and high sensitivity to gamma-irradiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,353,834 (GRCm39)	T3719A	probably damaging	Het
Abcb5	A	G	12: 118,831,705 (GRCm39)	S1216P	probably damaging	Het
Abl1	A	G	2: 31,668,989 (GRCm39)	T104A	probably damaging	Het
Adgrg6	A	T	10: 14,296,202 (GRCm39)	M1066K	possibly damaging	Het
Armc1	T	C	3: 19,198,594 (GRCm39)	N122S	probably benign	Het
Fat1	C	T	8: 45,504,307 (GRCm39)	T4600M	probably damaging	Het
Hrh1	T	A	6: 114,458,123 (GRCm39)	I468N	probably damaging	Het
Krt34	A	T	11: 99,930,916 (GRCm39)	L162Q	probably damaging	Het
Macrod2	A	T	2: 140,294,492 (GRCm39)		probably benign	Het
Mfsd9	C	A	1: 40,829,638 (GRCm39)		probably benign	Het
Nap1l1	C	T	10: 111,328,839 (GRCm39)	T256I	probably benign	Het
Or12e1	A	G	2: 87,022,192 (GRCm39)	I54V	probably benign	Het
Or5h22	T	C	16: 58,895,132 (GRCm39)	I104V	probably benign	Het
Or6k4	A	G	1: 173,964,679 (GRCm39)	Y123C	possibly damaging	Het
Pard6a	T	A	8: 106,429,309 (GRCm39)		probably null	Het
Pmm2	G	A	16: 8,466,532 (GRCm39)	R119Q	probably damaging	Het
Por	C	T	5: 135,763,040 (GRCm39)	Q517*	probably null	Het
Ppil6	T	C	10: 41,374,473 (GRCm39)	I118T	probably benign	Het
Psg26	A	G	7: 18,213,999 (GRCm39)	V221A	possibly damaging	Het
Ptpru	C	A	4: 131,496,803 (GRCm39)		probably benign	Het
Setd1b	T	C	5: 123,296,527 (GRCm39)		probably benign	Het
Slc17a1	A	G	13: 24,058,714 (GRCm39)	N56S	probably damaging	Het
Sybu	A	T	15: 44,536,201 (GRCm39)	D508E	probably damaging	Het
Tada2b	A	C	5: 36,633,686 (GRCm39)	N222K	probably damaging	Het
Tbcb	T	C	7: 29,930,627 (GRCm39)		probably null	Het
Tmprss11f	C	A	5: 86,692,691 (GRCm39)	G78*	probably null	Het
Vmn2r65	T	C	7: 84,589,708 (GRCm39)	Y736C	probably damaging	Het
Zc3h7a	G	A	16: 10,967,242 (GRCm39)	P517S	probably benign	Het
Zfp280d	A	G	9: 72,229,868 (GRCm39)	T392A	possibly damaging	Het
Zfp318	T	A	17: 46,719,942 (GRCm39)		probably null	Het

Other mutations in Rpl27a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02169:Rpl27a	APN	7	109,119,185 (GRCm39)	missense	probably benign	0.04
R9564:Rpl27a	UTSW	7	109,118,837 (GRCm39)	missense	probably benign	0.43

Posted On

2013-11-11