Mutagenetix > Incidental Mutation

Incidental Mutation 'R6826:Rps9'

534160

Institutional Source

Beutler Lab

Gene Symbol

Rps9

Ensembl Gene

ENSMUSG00000006333

Gene Name

ribosomal protein S9

Synonyms

3010033P07Rik

MMRRC Submission

045019-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R6826 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3707035-3709896 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 3708775 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 84 (D84E)

Ref Sequence

ENSEMBL: ENSMUSP00000116623 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006496] [ENSMUST00000038521] [ENSMUST00000108623] [ENSMUST00000108624] [ENSMUST00000108625] [ENSMUST00000108627] [ENSMUST00000108629] [ENSMUST00000108630] [ENSMUST00000126562] [ENSMUST00000139818] [ENSMUST00000146927] [ENSMUST00000205287]

AlphaFold

Q6ZWN5

Predicted Effect

probably benign
Transcript: ENSMUST00000006496
AA Change: D88E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000006496
Gene: ENSMUSG00000006333
AA Change: D88E

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S4	6	107	1.1e-33	PFAM
S4	108	179	6.84e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000038521

SMART Domains

Protein: ENSMUSP00000046911
Gene: ENSMUSG00000035585

Domain	Start	End	E-Value	Type
low complexity region	45	61	N/A	INTRINSIC
Pfam:tRNA_int_endo	219	303	2.9e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108623
AA Change: D88E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000104263
Gene: ENSMUSG00000006333
AA Change: D88E

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S4	6	107	6.7e-34	PFAM
Pfam:S4	108	137	2.8e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108624

SMART Domains

Protein: ENSMUSP00000104264
Gene: ENSMUSG00000006333

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S4	6	78	4.6e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108625
AA Change: D88E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104265
Gene: ENSMUSG00000006333
AA Change: D88E

Domain	Start	End	E-Value	Type
Ribosomal_S4	3	107	3.47e-16	SMART
S4	108	179	6.84e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108627

SMART Domains

Protein: ENSMUSP00000104267
Gene: ENSMUSG00000035585

Domain	Start	End	E-Value	Type
low complexity region	45	61	N/A	INTRINSIC
Pfam:tRNA_int_endo	223	307	4.8e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108629

SMART Domains

Protein: ENSMUSP00000104269
Gene: ENSMUSG00000035585

Domain	Start	End	E-Value	Type
low complexity region	45	61	N/A	INTRINSIC
Pfam:tRNA_int_endo	223	256	3.7e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108630

SMART Domains

Protein: ENSMUSP00000104270
Gene: ENSMUSG00000035585

Domain	Start	End	E-Value	Type
low complexity region	45	61	N/A	INTRINSIC
Pfam:tRNA_int_endo	223	307	7.9e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126562
AA Change: D88E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000120736
Gene: ENSMUSG00000006333
AA Change: D88E

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S4	6	107	1.3e-33	PFAM
Pfam:S4	108	136	2.8e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139818

SMART Domains

Protein: ENSMUSP00000114894
Gene: ENSMUSG00000006333

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S4	6	58	2.3e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000146927
AA Change: D84E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000116623
Gene: ENSMUSG00000006333
AA Change: D84E

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S4	2	103	1.3e-33	PFAM
Pfam:S4	104	133	2.5e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205287

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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 40S subunit. The protein belongs to the S4P 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]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,107,431 (GRCm39)	N728S	probably benign	Het
Acaca	T	C	11: 84,086,362 (GRCm39)	S63P	probably damaging	Het
Akr1c12	A	G	13: 4,325,733 (GRCm39)	V120A	probably benign	Het
Ap4b1	G	A	3: 103,720,224 (GRCm39)		probably null	Het
Apol7e	T	A	15: 77,602,491 (GRCm39)	V363D	probably damaging	Het
Bmpr1b	A	T	3: 141,563,167 (GRCm39)	L259Q	probably damaging	Het
Cdhr17	A	G	5: 17,013,292 (GRCm39)	I219V	unknown	Het
Clca3a2	T	C	3: 144,523,815 (GRCm39)	T57A	possibly damaging	Het
Copb1	T	C	7: 113,825,954 (GRCm39)	T677A	probably benign	Het
Crhr2	T	C	6: 55,094,725 (GRCm39)		probably benign	Het
Cyp11a1	A	G	9: 57,932,370 (GRCm39)	T228A	probably damaging	Het
Dnah1	T	C	14: 31,008,247 (GRCm39)	I2084V	probably benign	Het
Dnajc17	T	C	2: 119,011,408 (GRCm39)	K174R	probably damaging	Het
Dnm2	T	A	9: 21,415,767 (GRCm39)	Y646*	probably null	Het
Dock9	G	A	14: 121,860,330 (GRCm39)	P866L	probably damaging	Het
Elmo3	A	T	8: 106,033,378 (GRCm39)	I115F	probably damaging	Het
Elmod1	T	C	9: 53,826,883 (GRCm39)	T268A	probably benign	Het
F10	T	C	8: 13,096,165 (GRCm39)		probably null	Het
Fmo4	C	T	1: 162,631,338 (GRCm39)	V210M	probably damaging	Het
Foxred2	G	T	15: 77,831,285 (GRCm39)	H509Q	probably benign	Het
Hyal6	A	G	6: 24,734,371 (GRCm39)	I101M	probably damaging	Het
Igkv5-48	T	C	6: 69,703,584 (GRCm39)	Y107C	probably damaging	Het
Jag1	A	G	2: 136,958,095 (GRCm39)		probably null	Het
Leng8	T	A	7: 4,148,319 (GRCm39)	V697E	probably damaging	Het
Mdga1	T	C	17: 30,189,000 (GRCm39)	N21S	unknown	Het
Midn	T	A	10: 79,989,961 (GRCm39)	C126*	probably null	Het
Mlh3	A	T	12: 85,292,598 (GRCm39)	V1303E	probably benign	Het
Myh4	T	C	11: 67,137,357 (GRCm39)	L526P	probably damaging	Het
Or10ag55-ps1	G	A	2: 87,114,672 (GRCm39)	E13K	probably benign	Het
Or5b3	T	A	19: 13,388,452 (GRCm39)	V173E	probably benign	Het
Pde6b	C	T	5: 108,578,458 (GRCm39)	R799*	probably null	Het
Pde9a	A	G	17: 31,685,414 (GRCm39)	D382G	probably benign	Het
Pdrg1	A	C	2: 152,852,176 (GRCm39)		probably null	Het
Peg10	C	CATCAGGATG	6: 4,756,353 (GRCm39)		probably benign	Het
Ppp1r3a	C	A	6: 14,718,980 (GRCm39)	E645*	probably null	Het
Prrc2b	A	G	2: 32,112,300 (GRCm39)		probably null	Het
Ptprb	T	A	10: 116,153,277 (GRCm39)	M578K	probably benign	Het
Rasgrp3	G	T	17: 75,810,241 (GRCm39)	V314F	probably damaging	Het
Sdf2l1	C	G	16: 16,950,158 (GRCm39)	R6P	probably benign	Het
Serpina1e	A	G	12: 103,915,397 (GRCm39)	F270L	probably benign	Het
Slc24a5	G	A	2: 124,910,778 (GRCm39)	V70I	probably benign	Het
Slfn14	C	A	11: 83,172,644 (GRCm39)		probably null	Het
Smcr8	G	T	11: 60,669,688 (GRCm39)	D279Y	possibly damaging	Het
Snx16	A	T	3: 10,503,148 (GRCm39)	V33D	probably damaging	Het
Tesc	A	G	5: 118,194,483 (GRCm39)	T131A	probably damaging	Het
Tnfaip8l3	G	T	9: 53,934,783 (GRCm39)	T64K	possibly damaging	Het
Vmn2r1	T	A	3: 64,012,567 (GRCm39)	Y809*	probably null	Het
Vmn2r25	A	G	6: 123,800,071 (GRCm39)	V757A	probably damaging	Het
Vmn2r3	A	T	3: 64,182,327 (GRCm39)	Y457*	probably null	Het
Wee1	T	C	7: 109,723,870 (GRCm39)		probably null	Het
Wfdc3	C	T	2: 164,576,178 (GRCm39)	G38R	possibly damaging	Het
Zfp541	A	G	7: 15,812,907 (GRCm39)	E520G	probably damaging	Het
Zfp579	G	T	7: 4,997,425 (GRCm39)	A162D	probably benign	Het
Zfp811	A	G	17: 33,016,762 (GRCm39)	F425S	probably damaging	Het

Other mutations in Rps9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1809:Rps9	UTSW	7	3,707,726 (GRCm39)	missense	probably damaging	1.00
R3839:Rps9	UTSW	7	3,709,823 (GRCm39)	utr 3 prime	probably benign
R4950:Rps9	UTSW	7	3,707,758 (GRCm39)	frame shift	probably null
Z1177:Rps9	UTSW	7	3,709,727 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- AACTGTAAGCCTGCGTGATG -3'
(R):5'- TTTACAGGCCCAGCTGCAAC -3'

Sequencing Primer
(F):5'- TGGCCATGTCAGGGTCTCAAG -3'
(R):5'- GCTGCAACTCACCTAATGTG -3'

Posted On

2018-09-12