Mutagenetix > Incidental Mutation

Incidental Mutation 'R7709:Rps6kb1'

594480

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

045768-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.953) question?

Stock #

R7709 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86389697-86435631 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86404148 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 283 (M283K)

Ref Sequence

ENSEMBL: ENSMUSP00000119715 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058286] [ENSMUST00000154617]

AlphaFold

Q8BSK8

Predicted Effect

probably benign
Transcript: ENSMUST00000058286

SMART Domains

Protein: ENSMUSP00000053188
Gene: ENSMUSG00000020516

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 damaging
Transcript: ENSMUST00000154617
AA Change: M283K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119715
Gene: ENSMUSG00000020516
AA Change: M283K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,201,334 (GRCm39)	I443T	probably damaging	Het
2310002L09Rik	A	G	4: 73,861,091 (GRCm39)	C170R	possibly damaging	Het
4933415A04Rik	GTGTGTGTGTATGTGTGTGT	GTGTGTGTGT	11: 43,478,237 (GRCm39)		probably null	Het
A2m	A	C	6: 121,637,063 (GRCm39)	T809P	possibly damaging	Het
Abca12	T	C	1: 71,374,887 (GRCm39)	D340G	probably benign	Het
Abcg8	A	T	17: 84,999,919 (GRCm39)	D191V	probably damaging	Het
Acan	G	T	7: 78,739,356 (GRCm39)	V255F	probably damaging	Het
Ace	G	A	11: 105,879,663 (GRCm39)	V1248I	probably benign	Het
Adgre1	A	T	17: 57,709,519 (GRCm39)	Q87L	unknown	Het
Adgrl1	G	A	8: 84,665,617 (GRCm39)	V1435M	probably benign	Het
Ano8	T	C	8: 71,934,933 (GRCm39)	D423G	probably damaging	Het
Aox3	T	C	1: 58,219,810 (GRCm39)	Y1137H	probably damaging	Het
Arl5a	T	C	2: 52,295,068 (GRCm39)	D114G	probably benign	Het
B3galt9	T	G	2: 34,728,437 (GRCm39)	C79G	probably damaging	Het
Baiap2l2	G	T	15: 79,143,911 (GRCm39)	N394K	probably benign	Het
Cap1	A	T	4: 122,756,467 (GRCm39)	C355S	probably damaging	Het
Ccdc25	A	T	14: 66,077,933 (GRCm39)	D22V	probably damaging	Het
Ceacam2	T	C	7: 25,238,076 (GRCm39)	D116G	probably damaging	Het
Clec4b2	A	G	6: 123,149,974 (GRCm39)		probably benign	Het
CN725425	C	A	15: 91,124,930 (GRCm39)	R157S	probably benign	Het
Coq8b	T	C	7: 26,949,962 (GRCm39)	I347T	probably damaging	Het
Ctbp2	C	A	7: 132,591,789 (GRCm39)	V338L	probably benign	Het
Cyp2d22	A	G	15: 82,258,612 (GRCm39)	V83A	possibly damaging	Het
Daam1	G	A	12: 72,024,423 (GRCm39)	R797H	probably benign	Het
Dab1	C	A	4: 104,577,756 (GRCm39)	S275*	probably null	Het
Dgkz	T	C	2: 91,767,404 (GRCm39)	E863G	probably benign	Het
Dhx34	G	A	7: 15,946,789 (GRCm39)	A515V	possibly damaging	Het
Dnah14	T	C	1: 181,530,049 (GRCm39)		probably null	Het
Dnmt3b	C	A	2: 153,514,140 (GRCm39)	N384K	probably benign	Het
Dock5	A	G	14: 68,033,454 (GRCm39)	Y972H	probably benign	Het
Etv5	A	T	16: 22,231,597 (GRCm39)	Y138*	probably null	Het
Fdps	A	G	3: 89,008,397 (GRCm39)	S4P	probably damaging	Het
Gart	A	G	16: 91,419,853 (GRCm39)	F885L	possibly damaging	Het
Gm32687	A	T	10: 81,715,328 (GRCm39)	H240L	probably damaging	Het
Gm4553	C	T	7: 141,719,384 (GRCm39)	G15R	unknown	Het
Gm572	C	T	4: 148,753,408 (GRCm39)	T351M	probably damaging	Het
Gpr3	A	T	4: 132,937,748 (GRCm39)	L308Q	probably damaging	Het
Gpsm2	A	G	3: 108,609,097 (GRCm39)	V174A	probably benign	Het
Gucy1a1	T	C	3: 82,002,096 (GRCm39)	H661R	unknown	Het
Heatr4	A	T	12: 84,004,499 (GRCm39)	M774K	probably damaging	Het
Hmgcr	A	G	13: 96,799,605 (GRCm39)	I163T	possibly damaging	Het
Ift81	C	T	5: 122,747,394 (GRCm39)	V91M	probably damaging	Het
Igsf10	G	T	3: 59,238,964 (GRCm39)	Q406K	probably damaging	Het
Il10ra	A	G	9: 45,171,697 (GRCm39)	V257A	probably benign	Het
Ina	A	T	19: 47,012,082 (GRCm39)	K500I		Het
Lce1i	A	T	3: 92,685,066 (GRCm39)	C37S	unknown	Het
Lrrc59	A	T	11: 94,525,811 (GRCm39)	D133V	probably damaging	Het
Magi3	A	G	3: 103,941,354 (GRCm39)	I867T	probably damaging	Het
Mmaa	T	A	8: 79,995,830 (GRCm39)	R298W	probably damaging	Het
Mon1a	G	T	9: 107,777,327 (GRCm39)	V77F	probably benign	Het
Mrc2	A	G	11: 105,237,285 (GRCm39)	T1030A	probably benign	Het
Mrps27	T	A	13: 99,541,504 (GRCm39)	S162T	probably benign	Het
Mtmr12	T	A	15: 12,245,097 (GRCm39)	M204K	probably damaging	Het
Mtus1	A	G	8: 41,507,687 (GRCm39)	I21T	possibly damaging	Het
Myh2	T	C	11: 67,085,690 (GRCm39)	V1844A	probably benign	Het
Myh7	C	G	14: 55,226,258 (GRCm39)	D461H	probably damaging	Het
Nbr1	T	G	11: 101,447,067 (GRCm39)	F18V	probably damaging	Het
Npy2r	T	C	3: 82,447,689 (GRCm39)	N362S	probably benign	Het
Ocln	T	A	13: 100,676,106 (GRCm39)	Y129F	probably damaging	Het
Or2t1	T	C	14: 14,328,384 (GRCm38)	I91T	probably damaging	Het
Or4c10	T	C	2: 89,760,225 (GRCm39)	I24T	probably benign	Het
Or8c20	A	G	9: 38,260,573 (GRCm39)	M59V	probably benign	Het
Pik3c2b	T	G	1: 133,007,579 (GRCm39)		probably null	Het
Prss39	A	G	1: 34,541,709 (GRCm39)	D262G	probably damaging	Het
Ptk7	T	A	17: 46,882,569 (GRCm39)	D886V	possibly damaging	Het
Ptprg	T	A	14: 12,226,452 (GRCm38)	D1348E	probably damaging	Het
Rabgap1	T	C	2: 37,427,339 (GRCm39)	I640T	possibly damaging	Het
Rogdi	A	G	16: 4,827,098 (GRCm39)	Y303H	probably damaging	Het
Sardh	T	A	2: 27,131,529 (GRCm39)	T188S	possibly damaging	Het
Sebox	A	G	11: 78,394,919 (GRCm39)	E87G	probably damaging	Het
Smchd1	A	T	17: 71,665,193 (GRCm39)	M1830K	probably damaging	Het
Spata31h1	A	C	10: 82,126,366 (GRCm39)	S2215A	possibly damaging	Het
Spink8	G	A	9: 109,645,848 (GRCm39)	V7I	probably benign	Het
Src	G	A	2: 157,299,164 (GRCm39)	V54M	probably benign	Het
Taar2	A	G	10: 23,816,621 (GRCm39)	I54V	probably benign	Het
Tpo	A	T	12: 30,181,859 (GRCm39)	V12E	possibly damaging	Het
Txk	T	C	5: 72,864,918 (GRCm39)	D373G	probably damaging	Het
Ubr5	G	A	15: 37,980,076 (GRCm39)	A2434V	probably null	Het
Vil1	C	T	1: 74,465,754 (GRCm39)	T515M	probably benign	Het
Wdr47	G	T	3: 108,525,837 (GRCm39)	C120F	probably damaging	Het
Ylpm1	C	T	12: 85,059,799 (GRCm39)	P335L	unknown	Het
Zfp148	T	A	16: 33,288,545 (GRCm39)	I220N	probably damaging	Het
Zfp992	A	T	4: 146,551,622 (GRCm39)	K448*	probably null	Het
Zfp994	T	C	17: 22,419,406 (GRCm39)	I514M	probably benign	Het
Zp2	A	T	7: 119,734,998 (GRCm39)	I429N	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
R4728: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
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'- GGAATGCCTCAAAATCATAAGCTAC -3'
(R):5'- TGTGAGAGCTGCATGTTAAAAG -3'

Sequencing Primer
(F):5'- GCCTCAAAATCATAAGCTACCTAATG -3'
(R):5'- GGGGGTAATATCTAACTTTTACCTGG -3'

Posted On

2019-11-12