Mutagenetix > Incidental Mutation

Incidental Mutation 'R4728:Rps6kb1'

358619

Institutional Source

Beutler Lab

Gene Symbol

Rps6kb1

Ensembl Gene

ENSMUSG00000020516

Gene Name

ribosomal protein S6 kinase, polypeptide 1

Synonyms

S6K1, 2610318I15Rik, p70S6K1, p70/85s6k, p70s6k

MMRRC Submission

042020-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.941) question?

Stock #

R4728 (G1)

Quality Score

191

Status

Validated

Chromosome

Chromosomal Location

86389697-86435631 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to C at 86435484 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130909 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020821] [ENSMUST00000058286] [ENSMUST00000069503] [ENSMUST00000108030] [ENSMUST00000138810] [ENSMUST00000154617] [ENSMUST00000167178]

AlphaFold

Q8BSK8

Predicted Effect

probably null
Transcript: ENSMUST00000020821

SMART Domains

Protein: ENSMUSP00000020821
Gene: ENSMUSG00000020513

Domain	Start	End	E-Value	Type
Tubulin	47	246	2.91e-30	SMART
Blast:Tubulin	273	323	1e-12	BLAST
SCOP:d1tubb2	289	481	6e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000020824

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058286
AA Change: R17G

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000053188
Gene: ENSMUSG00000020516
AA Change: R17G

Domain	Start	End	E-Value	Type
Pfam:Pkinase	91	202	1.2e-19	PFAM
Pfam:Pkinase_Tyr	91	253	5.9e-11	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000069503

SMART Domains

Protein: ENSMUSP00000064383
Gene: ENSMUSG00000020513

Domain	Start	End	E-Value	Type
Tubulin	47	246	2.91e-30	SMART
SCOP:d1tubb2	256	450	1e-25	SMART
Blast:Tubulin	258	292	1e-11	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000108030

SMART Domains

Protein: ENSMUSP00000103665
Gene: ENSMUSG00000020513

Domain	Start	End	E-Value	Type
Tubulin	47	246	2.91e-30	SMART
Blast:Tubulin	273	323	1e-12	BLAST
SCOP:d1tubb2	289	481	6e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000138810

SMART Domains

Protein: ENSMUSP00000122756
Gene: ENSMUSG00000020516

Domain	Start	End	E-Value	Type
SCOP:d1koba_	13	74	9e-13	SMART
PDB:4L3L\|A	21	74	6e-30	PDB
Blast:S_TKc	38	74	7e-16	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000154617
AA Change: R17G

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000119715
Gene: ENSMUSG00000020516
AA Change: R17G

Domain	Start	End	E-Value	Type
S_TKc	91	352	8.24e-107	SMART
S_TK_X	353	415	9.2e-27	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000167178

SMART Domains

Protein: ENSMUSP00000130909
Gene: ENSMUSG00000020513

Domain	Start	End	E-Value	Type
Tubulin	47	246	2.91e-30	SMART
SCOP:d1tubb2	256	450	1e-25	SMART
Blast:Tubulin	258	292	1e-11	BLAST

Meta Mutation Damage Score

0.0720

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

94% (73/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ribosomal S6 kinase family of serine/threonine kinases. The encoded protein responds to mTOR (mammalian target of rapamycin) signaling to promote protein synthesis, cell growth, and cell proliferation. Activity of this gene has been associated with human cancer. Alternatively spliced transcript variants have been observed. The use of alternative translation start sites results in isoforms with longer or shorter N-termini which may differ in their subcellular localizations. There are two pseudogenes for this gene on chromosome 17. [provided by RefSeq, Jan 2013]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced prenatal growth, glucose intolerance, and hypoinsulinemia associated with diminished pancreatic beta cell size. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bicc1	C	T	10: 70,771,661 (GRCm39)		probably null	Het
Bpifc	T	A	10: 85,827,063 (GRCm39)	H162L	possibly damaging	Het
Ccdc163	C	T	4: 116,566,209 (GRCm39)		probably benign	Het
Cldn12	A	G	5: 5,558,385 (GRCm39)	F14S	probably damaging	Het
Cyth4	G	A	15: 78,486,913 (GRCm39)	G14R	probably benign	Het
Ddhd2	C	T	8: 26,242,294 (GRCm39)	V194I	probably damaging	Het
Ddx23	A	T	15: 98,548,106 (GRCm39)	V433E	probably damaging	Het
Defb34	A	G	8: 19,176,434 (GRCm39)	N42D	possibly damaging	Het
Dennd6a	A	G	14: 26,348,575 (GRCm39)	E313G	probably null	Het
Dhx30	A	G	9: 109,916,718 (GRCm39)	F570S	probably damaging	Het
Dnah3	T	C	7: 119,658,589 (GRCm39)	E864G	probably damaging	Het
Eps8	G	A	6: 137,486,160 (GRCm39)	Q451*	probably null	Het
Fmo9	A	T	1: 166,490,880 (GRCm39)	Y533N	possibly damaging	Het
Fut8	T	A	12: 77,521,973 (GRCm39)	D537E	probably damaging	Het
Gm5407	T	C	16: 49,117,283 (GRCm39)		noncoding transcript	Het
Gm9916	A	G	3: 118,228,690 (GRCm39)		noncoding transcript	Het
Grm5	T	A	7: 87,624,496 (GRCm39)	F354L	probably damaging	Het
Hira	C	T	16: 18,741,654 (GRCm39)	A353V	probably damaging	Het
Ifna4	C	A	4: 88,760,519 (GRCm39)	T141K	probably benign	Het
Igf1r	T	C	7: 67,839,372 (GRCm39)	L628P	probably damaging	Het
Kcnh5	A	T	12: 75,054,555 (GRCm39)	I463N	probably damaging	Het
Kcnh8	C	A	17: 53,032,898 (GRCm39)	Q62K	probably damaging	Het
Kif3c	A	T	12: 3,415,873 (GRCm39)		probably benign	Het
Kmo	A	G	1: 175,484,329 (GRCm39)	D353G	possibly damaging	Het
Lrp1	T	C	10: 127,399,606 (GRCm39)	T2301A	probably damaging	Het
Lrrc7	GAAGTTGTTTGGAGATTCTTATCTTA	GA	3: 158,024,045 (GRCm39)		probably benign	Het
Map3k9	C	T	12: 81,769,147 (GRCm39)	R967Q	probably damaging	Het
Mcm8	A	G	2: 132,674,774 (GRCm39)	H414R	probably damaging	Het
Mier1	A	G	4: 102,997,402 (GRCm39)	E145G	probably damaging	Het
Mlc1	A	T	15: 88,862,234 (GRCm39)		probably null	Het
Napb	T	C	2: 148,551,245 (GRCm39)	D96G	probably damaging	Het
Nbas	T	A	12: 13,338,740 (GRCm39)	S193R	probably damaging	Het
Nlrp4a	T	C	7: 26,174,515 (GRCm39)	V967A	probably benign	Het
Nlrp4e	T	A	7: 23,020,989 (GRCm39)	I492K	probably benign	Het
Notch4	A	G	17: 34,789,179 (GRCm39)	T497A	probably benign	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Ogdh	T	A	11: 6,292,549 (GRCm39)	Y417N	probably damaging	Het
Or5w19	T	C	2: 87,698,779 (GRCm39)	V148A	probably benign	Het
Ovol1	A	T	19: 5,603,690 (GRCm39)	Y70*	probably null	Het
P2ry1	A	G	3: 60,911,641 (GRCm39)	Y260C	probably damaging	Het
Pcx	G	T	19: 4,653,124 (GRCm39)	R263L	probably damaging	Het
Pla2g4f	T	A	2: 120,131,402 (GRCm39)	T774S	probably benign	Het
Prdm15	T	G	16: 97,622,986 (GRCm39)	K289Q	probably benign	Het
Prl7c1	A	T	13: 27,960,268 (GRCm39)	H91Q	probably benign	Het
Prmt5	C	T	14: 54,745,364 (GRCm39)	R601H	probably benign	Het
Prrc2b	T	A	2: 32,120,637 (GRCm39)	D2192E	probably damaging	Het
Ptdss2	A	G	7: 140,734,372 (GRCm39)	I299V	probably benign	Het
Rbm28	A	G	6: 29,143,591 (GRCm39)	V354A	probably damaging	Het
Sema3f	A	G	9: 107,582,639 (GRCm39)	S35P	probably benign	Het
Serpina3n	A	T	12: 104,375,422 (GRCm39)	T165S	probably benign	Het
Serpinb13	C	T	1: 106,910,574 (GRCm39)	S66L	probably damaging	Het
Sh2d4b	T	A	14: 40,564,389 (GRCm39)	R267*	probably null	Het
Slc5a12	A	T	2: 110,474,769 (GRCm39)	K554*	probably null	Het
Snrnp200	T	C	2: 127,059,334 (GRCm39)	L409P	probably damaging	Het
Snrnp200	T	A	2: 127,069,798 (GRCm39)	V981E	possibly damaging	Het
Spon2	T	A	5: 33,374,682 (GRCm39)	R41S	probably benign	Het
Sptb	A	T	12: 76,630,153 (GRCm39)	M2279K	probably benign	Het
Srcap	T	G	7: 127,140,096 (GRCm39)		probably null	Het
Tctn3	A	G	19: 40,594,186 (GRCm39)	V409A	probably damaging	Het
Tg	A	C	15: 66,554,676 (GRCm39)	Q697P	probably damaging	Het
Tmem181a	A	G	17: 6,340,874 (GRCm39)	D141G	probably benign	Het
Tmem82	A	G	4: 141,341,963 (GRCm39)	S334P	probably benign	Het
Ubr4	A	G	4: 139,151,190 (GRCm39)	Y1875C	probably damaging	Het
Vmn1r63	C	A	7: 5,806,362 (GRCm39)	R90L	probably damaging	Het
Zfp330	A	C	8: 83,497,475 (GRCm39)	Y56D	probably damaging	Het

Other mutations in Rps6kb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01010:Rps6kb1	APN	11	86,393,592 (GRCm39)	missense	probably benign
IGL02707:Rps6kb1	APN	11	86,426,236 (GRCm39)	critical splice donor site	probably null
IGL03101:Rps6kb1	APN	11	86,393,708 (GRCm39)	missense	probably benign	0.23
IGL03331:Rps6kb1	APN	11	86,423,656 (GRCm39)	missense	probably damaging	1.00
Cobb	UTSW	11	86,410,757 (GRCm39)	missense	possibly damaging	0.83
R0025:Rps6kb1	UTSW	11	86,402,413 (GRCm39)	critical splice donor site	probably null
R1797:Rps6kb1	UTSW	11	86,393,634 (GRCm39)	nonsense	probably null
R1931:Rps6kb1	UTSW	11	86,423,647 (GRCm39)	missense	possibly damaging	0.52
R2214:Rps6kb1	UTSW	11	86,424,896 (GRCm39)	missense	possibly damaging	0.71
R3196:Rps6kb1	UTSW	11	86,397,633 (GRCm39)	missense	probably benign	0.01
R3699:Rps6kb1	UTSW	11	86,423,620 (GRCm39)	missense	probably damaging	1.00
R4171:Rps6kb1	UTSW	11	86,435,405 (GRCm39)	missense	possibly damaging	0.68
R4291:Rps6kb1	UTSW	11	86,410,702 (GRCm39)	intron	probably benign
R4685:Rps6kb1	UTSW	11	86,410,713 (GRCm39)	splice site	probably null
R4727:Rps6kb1	UTSW	11	86,435,484 (GRCm39)	splice site	probably null
R5450:Rps6kb1	UTSW	11	86,423,663 (GRCm39)	missense	probably damaging	1.00
R5648:Rps6kb1	UTSW	11	86,403,697 (GRCm39)	missense	possibly damaging	0.54
R5796:Rps6kb1	UTSW	11	86,402,677 (GRCm39)	missense	probably benign	0.26
R5955:Rps6kb1	UTSW	11	86,404,431 (GRCm39)	missense	probably damaging	1.00
R7080:Rps6kb1	UTSW	11	86,397,666 (GRCm39)	missense	probably damaging	1.00
R7450:Rps6kb1	UTSW	11	86,393,657 (GRCm39)	missense	probably benign	0.11
R7709:Rps6kb1	UTSW	11	86,404,148 (GRCm39)	missense	probably damaging	1.00
R8084:Rps6kb1	UTSW	11	86,426,262 (GRCm39)	missense	probably benign	0.00
R8366:Rps6kb1	UTSW	11	86,402,655 (GRCm39)	missense	probably damaging	1.00
R8723:Rps6kb1	UTSW	11	86,410,757 (GRCm39)	missense	possibly damaging	0.83
R9192:Rps6kb1	UTSW	11	86,404,381 (GRCm39)	missense	probably damaging	1.00
R9484:Rps6kb1	UTSW	11	86,408,443 (GRCm39)	missense	probably damaging	1.00
R9525:Rps6kb1	UTSW	11	86,410,746 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- AGAAACACATTGCTCCGGG -3'
(R):5'- CAGAAGACTTTGTACGCATGC -3'

Sequencing Primer
(F):5'- TCAGCTAGGGATCAGGGC -3'
(R):5'- TTTGTACGCATGCGCCGG -3'

Posted On

2015-11-11