Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00951:Rpl7a'

26950

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rpl7a

Ensembl Gene

ENSMUSG00000062647

Gene Name

ribosomal protein L7A

Synonyms

surfeit 3, Surf-3

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

IGL00951

Quality Score

Status

Chromosome

Chromosomal Location

26800776-26803330 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26802441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 160 (D160G)

Ref Sequence

ENSEMBL: ENSMUSP00000099962 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015017] [ENSMUST00000015920] [ENSMUST00000015934] [ENSMUST00000102898] [ENSMUST00000133513] [ENSMUST00000102899] [ENSMUST00000139815] [ENSMUST00000129682] [ENSMUST00000147110] [ENSMUST00000167661]

AlphaFold

P12970

Predicted Effect

probably benign
Transcript: ENSMUST00000015017

SMART Domains

Protein: ENSMUSP00000015017
Gene: ENSMUSG00000014873

Domain	Start	End	E-Value	Type
Pfam:SURF2	4	251	5.7e-98	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000015920

SMART Domains

Protein: ENSMUSP00000015920
Gene: ENSMUSG00000015776

Domain	Start	End	E-Value	Type
Pfam:Med22	20	125	5.7e-40	PFAM
low complexity region	127	141	N/A	INTRINSIC
low complexity region	156	174	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000015934

SMART Domains

Protein: ENSMUSP00000015934
Gene: ENSMUSG00000015790

Domain	Start	End	E-Value	Type
low complexity region	8	21	N/A	INTRINSIC
low complexity region	83	98	N/A	INTRINSIC
Pfam:SURF1	106	321	6.7e-50	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082895

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083324

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083361

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102898
AA Change: D160G

PolyPhen 2 Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099962
Gene: ENSMUSG00000062647
AA Change: D160G

Domain	Start	End	E-Value	Type
low complexity region	2	28	N/A	INTRINSIC
Pfam:Ribosomal_L7Ae	122	216	1.2e-25	PFAM
low complexity region	251	262	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143098

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135506

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136269

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126947

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125408

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128665

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142967

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137376

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129673

Predicted Effect

probably benign
Transcript: ENSMUST00000129822

Predicted Effect

probably benign
Transcript: ENSMUST00000133513

SMART Domains

Protein: ENSMUSP00000141317
Gene: ENSMUSG00000015790

Domain	Start	End	E-Value	Type
low complexity region	8	23	N/A	INTRINSIC
Pfam:SURF1	30	63	7.2e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102899

SMART Domains

Protein: ENSMUSP00000099963
Gene: ENSMUSG00000015776

Domain	Start	End	E-Value	Type
Pfam:Med22	14	130	5.6e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139815

SMART Domains

Protein: ENSMUSP00000116442
Gene: ENSMUSG00000015776

Domain	Start	End	E-Value	Type
Pfam:Med22	14	72	3e-14	PFAM
Pfam:Med22	96	166	2.7e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129682

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157066

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147143

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149339

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143678

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150776

Predicted Effect

probably benign
Transcript: ENSMUST00000183520

Predicted Effect

probably benign
Transcript: ENSMUST00000147110

SMART Domains

Protein: ENSMUSP00000141238
Gene: ENSMUSG00000015790

Domain	Start	End	E-Value	Type
low complexity region	8	23	N/A	INTRINSIC
Pfam:SURF1	30	240	5.1e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167661

SMART Domains

Protein: ENSMUSP00000128488
Gene: ENSMUSG00000015790

Domain	Start	End	E-Value	Type
low complexity region	51	66	N/A	INTRINSIC
Pfam:SURF1	73	290	5.9e-64	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cytoplasmic ribosomes, 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 L7AE family of ribosomal proteins. It can interact with a subclass of nuclear hormone receptors, including thyroid hormone receptor, and inhibit their ability to transactivate by preventing their binding to their DNA response elements. This gene is included in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity. It is co-transcribed with the U24, U36a, U36b, and U36c small nucleolar RNA genes, which are located in its second, fifth, fourth, and sixth introns, respectively. This gene rearranges with the trk proto-oncogene to form the chimeric oncogene trk-2h, which encodes an oncoprotein consisting of the N terminus of ribosomal protein L7a fused to the receptor tyrosine kinase domain of trk. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Armc8	C	A	9: 99,387,757 (GRCm39)	R388L	probably benign	Het
Bcan	T	C	3: 87,901,481 (GRCm39)	E407G	probably damaging	Het
Brms1l	A	G	12: 55,912,834 (GRCm39)	I276V	possibly damaging	Het
Brpf1	C	A	6: 113,299,514 (GRCm39)	D1182E	probably damaging	Het
Clpb	A	G	7: 101,400,467 (GRCm39)	M268V	probably benign	Het
Cpne8	A	T	15: 90,486,096 (GRCm39)		probably benign	Het
Ddx25	A	T	9: 35,464,131 (GRCm39)		probably null	Het
Dgki	A	G	6: 36,977,094 (GRCm39)	M672T	probably damaging	Het
Fhdc1	T	C	3: 84,371,620 (GRCm39)	T112A	possibly damaging	Het
Galnt7	A	T	8: 58,036,858 (GRCm39)	M177K	probably damaging	Het
Gucy1a1	T	C	3: 82,018,498 (GRCm39)	D113G	probably benign	Het
Hp	T	C	8: 110,304,129 (GRCm39)	D24G	possibly damaging	Het
Jak2	A	G	19: 29,276,983 (GRCm39)	R847G	probably damaging	Het
Lama2	A	T	10: 26,906,281 (GRCm39)	D2391E	probably benign	Het
Mpzl1	A	G	1: 165,433,391 (GRCm39)	F87L	probably damaging	Het
Ms4a4d	A	T	19: 11,532,285 (GRCm39)	I144F	probably benign	Het
Or5h18	G	A	16: 58,848,216 (GRCm39)	T18I	probably benign	Het
Or5h23	A	C	16: 58,906,756 (GRCm39)	L30R	possibly damaging	Het
Or5i1	A	T	2: 87,612,883 (GRCm39)	I2F	probably benign	Het
Or6c219	A	G	10: 129,781,581 (GRCm39)	S2P	probably damaging	Het
Or6d14	G	A	6: 116,534,027 (GRCm39)	V214I	probably benign	Het
Prr16	A	G	18: 51,436,411 (GRCm39)	R297G	probably damaging	Het
Ralgps1	A	C	2: 33,163,614 (GRCm39)	L148V	probably damaging	Het
Rara	A	G	11: 98,858,992 (GRCm39)	D150G	probably benign	Het
Rb1	A	T	14: 73,559,512 (GRCm39)	V64D	probably damaging	Het
Ros1	A	G	10: 52,019,348 (GRCm39)	Y742H	probably damaging	Het
Sdccag8	A	G	1: 176,705,568 (GRCm39)	M461V	possibly damaging	Het
Tagln	T	A	9: 45,842,170 (GRCm39)	N141I	probably benign	Het
Tas2r140	A	T	6: 40,468,913 (GRCm39)	R248*	probably null	Het
Ube2j2	C	T	4: 156,030,834 (GRCm39)		probably benign	Het
Ulk1	A	G	5: 110,940,270 (GRCm39)	C384R	possibly damaging	Het
Ush2a	A	T	1: 187,995,662 (GRCm39)	E144D	probably benign	Het
Vkorc1l1	C	T	5: 130,011,108 (GRCm39)	T144I	probably benign	Het
Zfp235	T	C	7: 23,836,505 (GRCm39)	F17S	probably damaging	Het

Other mutations in Rpl7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00932:Rpl7a	APN	2	26,801,067 (GRCm39)	unclassified	probably benign
R0041:Rpl7a	UTSW	2	26,801,563 (GRCm39)	splice site	probably null
R1491:Rpl7a	UTSW	2	26,801,127 (GRCm39)	missense	probably damaging	0.98
R2102:Rpl7a	UTSW	2	26,801,473 (GRCm39)	missense	possibly damaging	0.93
R6601:Rpl7a	UTSW	2	26,801,536 (GRCm39)	missense	probably benign	0.36
R7378:Rpl7a	UTSW	2	26,802,019 (GRCm39)	splice site	probably null
R8926:Rpl7a	UTSW	2	26,801,557 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-04-17