Mutagenetix > Incidental Mutation

Incidental Mutation 'R3839:Rps9'

277047

Institutional Source

Beutler Lab

Gene Symbol

Rps9

Ensembl Gene

ENSMUSG00000006333

Gene Name

ribosomal protein S9

Synonyms

3010033P07Rik

MMRRC Submission

040892-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R3839 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3707035-3709896 bp(+) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to G at 3709823 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116623 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006496] [ENSMUST00000078451] [ENSMUST00000108623] [ENSMUST00000108624] [ENSMUST00000108625] [ENSMUST00000126562] [ENSMUST00000146927] [ENSMUST00000139818]

AlphaFold

Q6ZWN5

Predicted Effect

unknown
Transcript: ENSMUST00000006496
AA Change: D194G

SMART Domains

Protein: ENSMUSP00000006496
Gene: ENSMUSG00000006333
AA Change: D194G

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: ENSMUST00000078451

SMART Domains

Protein: ENSMUSP00000077546
Gene: ENSMUSG00000058818

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IG	34	118	1.8e-3	SMART
IG	129	315	1.2e-4	SMART
IG_like	237	302	6.2e-4	SMART
IG_like	328	415	3.4e-2	SMART
IG_like	435	502	1e-2	SMART
IG	529	618	3.6e-5	SMART
low complexity region	624	637	N/A	INTRINSIC
transmembrane domain	641	663	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108623

SMART Domains

Protein: ENSMUSP00000104263
Gene: ENSMUSG00000006333

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

unknown
Transcript: ENSMUST00000108625
AA Change: D194G

SMART Domains

Protein: ENSMUSP00000104265
Gene: ENSMUSG00000006333
AA Change: D194G

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: ENSMUST00000126562

SMART Domains

Protein: ENSMUSP00000120736
Gene: ENSMUSG00000006333

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

noncoding transcript
Transcript: ENSMUST00000128729

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136858

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146303

Predicted Effect

probably benign
Transcript: ENSMUST00000146927

SMART Domains

Protein: ENSMUSP00000116623
Gene: ENSMUSG00000006333

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: ENSMUST00000139818

SMART Domains

Protein: ENSMUSP00000114894
Gene: ENSMUSG00000006333

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

Meta Mutation Damage Score

0.1019

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.8%
20x: 96.4%

Validation Efficiency

98% (48/49)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028I16Rik	A	G	10: 82,648,219 (GRCm39)		noncoding transcript	Het
Abraxas2	T	A	7: 132,484,867 (GRCm39)	S303R	probably benign	Het
Ackr3	G	A	1: 90,141,850 (GRCm39)	S103N	probably damaging	Het
Arhgef25	T	C	10: 127,025,605 (GRCm39)	T12A	probably benign	Het
Aspm	C	T	1: 139,405,792 (GRCm39)	H1560Y	probably benign	Het
Atg10	A	T	13: 91,085,499 (GRCm39)	I150K	probably damaging	Het
AW551984	T	C	9: 39,509,204 (GRCm39)		probably benign	Het
Cald1	A	T	6: 34,722,700 (GRCm39)	D122V	probably damaging	Het
Cc2d2a	T	C	5: 43,876,056 (GRCm39)	V1011A	probably benign	Het
Cdh9	G	T	15: 16,823,524 (GRCm39)	E169*	probably null	Het
Cmbl	T	C	15: 31,582,144 (GRCm39)	V47A	probably damaging	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Ctnnd2	T	A	15: 31,009,174 (GRCm39)		probably null	Het
Cyp4a10	A	C	4: 115,382,544 (GRCm39)	E278A	possibly damaging	Het
Ddx56	T	C	11: 6,217,712 (GRCm39)	D3G	probably benign	Het
Dnajb2	G	A	1: 75,218,124 (GRCm39)		probably null	Het
Eif3d	T	A	15: 77,848,300 (GRCm39)	T211S	probably benign	Het
Fam13c	C	T	10: 70,378,478 (GRCm39)	S336L	probably damaging	Het
Garnl3	C	T	2: 32,879,558 (GRCm39)	G923S	probably benign	Het
Gcnt4	A	T	13: 97,083,522 (GRCm39)	R273*	probably null	Het
Gldc	T	A	19: 30,096,075 (GRCm39)		probably benign	Het
Glra2	C	T	X: 164,072,612 (GRCm39)	V85I	probably benign	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Gpam	T	C	19: 55,068,890 (GRCm39)	N450S	probably benign	Het
Gpr156	T	A	16: 37,808,962 (GRCm39)	V228D	probably damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hmgcr	A	G	13: 96,795,597 (GRCm39)	I324T	probably benign	Het
Itga3	A	G	11: 94,948,095 (GRCm39)		probably null	Het
Itih1	T	A	14: 30,657,785 (GRCm39)	N429Y	probably damaging	Het
Klhl40	A	G	9: 121,609,482 (GRCm39)	Y453C	possibly damaging	Het
Mid1ip1	T	C	X: 10,584,620 (GRCm39)	V51A	possibly damaging	Het
Msn	C	A	X: 95,203,805 (GRCm39)	Q303K	probably damaging	Het
Nap1l1	T	A	10: 111,331,183 (GRCm39)		probably null	Het
Rala	A	T	13: 18,067,759 (GRCm39)	C91S	probably damaging	Het
Sdr16c5	C	A	4: 4,006,601 (GRCm39)	M230I	probably damaging	Het
Sec14l3	A	G	11: 4,021,544 (GRCm39)		probably null	Het
Senp2	T	C	16: 21,828,485 (GRCm39)	S32P	probably damaging	Het
Skor1	A	C	9: 63,051,730 (GRCm39)	S746R	probably damaging	Het
Slc17a4	C	T	13: 24,085,752 (GRCm39)	R387H	probably benign	Het
Slc47a1	G	T	11: 61,243,884 (GRCm39)		probably benign	Het
Slit3	A	T	11: 35,399,064 (GRCm39)	N143I	probably benign	Het
Tpbg	T	C	9: 85,725,167 (GRCm39)		probably benign	Het
Tubb2a	G	T	13: 34,259,294 (GRCm39)	N165K	probably benign	Het
Usp14	A	G	18: 10,024,532 (GRCm39)		probably null	Het
Vmn2r109	A	G	17: 20,774,704 (GRCm39)	V217A	probably damaging	Het
Zfp108	A	G	7: 23,959,981 (GRCm39)	I191V	probably benign	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
R4950:Rps9	UTSW	7	3,707,758 (GRCm39)	frame shift	probably null
R6826:Rps9	UTSW	7	3,708,775 (GRCm39)	missense	probably benign	0.00
Z1177:Rps9	UTSW	7	3,709,727 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- AAGCAGGTGGTGAACATCCC -3'
(R):5'- TCACTAGAGACTGGCTCCAAATGG -3'

Sequencing Primer
(F):5'- AGGTGGTGAACATCCCATCCTTC -3'
(R):5'- ACTGGCTCCAAATGGCTTGC -3'

Posted On

2015-04-06