Mutagenetix > Incidental Mutation

Incidental Mutation 'R5955:Rps6kb1'

471134

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.941) question?

Stock #

R5955 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86389697-86435631 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86404431 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 241 (K241E)

Ref Sequence

ENSEMBL: ENSMUSP00000119715 (fasta)

Gene Model

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

AlphaFold

Q8BSK8

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000020824

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

noncoding transcript
Transcript: ENSMUST00000131194

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149392

Predicted Effect

probably damaging
Transcript: ENSMUST00000154617
AA Change: K241E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119715
Gene: ENSMUSG00000020516
AA Change: K241E

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: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.7%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	T	19: 43,801,629 (GRCm39)	D632V	probably damaging	Het
Acbd6	C	T	1: 155,463,205 (GRCm39)	A135V	probably benign	Het
Adam26a	A	T	8: 44,022,889 (GRCm39)	F200L	probably benign	Het
Ago3	A	T	4: 126,248,843 (GRCm39)	N569K	probably damaging	Het
Ak9	A	T	10: 41,234,560 (GRCm39)	L640F	probably damaging	Het
Ampd2	A	G	3: 107,987,088 (GRCm39)	V178A	probably damaging	Het
Anapc4	C	G	5: 53,023,288 (GRCm39)	H710D	probably benign	Het
Atad2	T	C	15: 57,969,055 (GRCm39)	I495V	probably benign	Het
Bhmt2	T	C	13: 93,799,705 (GRCm39)	T244A	probably benign	Het
Capg	T	C	6: 72,532,483 (GRCm39)	V16A	probably benign	Het
Capn13	A	G	17: 73,637,997 (GRCm39)	F469L	possibly damaging	Het
Ccdc149	C	T	5: 52,533,877 (GRCm39)	V430I	probably benign	Het
Cma1	A	C	14: 56,181,226 (GRCm39)	Y47D	probably benign	Het
Col6a3	A	T	1: 90,739,163 (GRCm39)	L355Q	probably damaging	Het
Cripto	C	A	9: 110,773,281 (GRCm39)	R18L	unknown	Het
Crocc	G	T	4: 140,745,229 (GRCm39)	T1796K	possibly damaging	Het
Cyp2c50	A	T	19: 40,079,387 (GRCm39)		probably null	Het
Dsp	T	C	13: 38,378,934 (GRCm39)	I1294T	possibly damaging	Het
Erbin	A	T	13: 103,966,700 (GRCm39)	F1250Y	probably benign	Het
Fbn1	A	C	2: 125,200,802 (GRCm39)	C1298W	probably damaging	Het
Fbn2	A	C	18: 58,177,328 (GRCm39)	F1990V	probably damaging	Het
Fez2	A	T	17: 78,694,472 (GRCm39)	V306D	probably damaging	Het
Gigyf1	G	A	5: 137,521,769 (GRCm39)		probably null	Het
Gjb4	A	T	4: 127,245,745 (GRCm39)	Y65*	probably null	Het
Gm26661	G	A	14: 7,791,776 (GRCm38)	A64T	unknown	Het
Igkv1-135	T	C	6: 67,587,263 (GRCm39)	S45P	possibly damaging	Het
Il27	T	C	7: 126,194,070 (GRCm39)	T5A	probably benign	Het
Il27ra	T	C	8: 84,767,451 (GRCm39)	D124G	probably benign	Het
Itgad	A	G	7: 127,788,653 (GRCm39)	H424R	probably benign	Het
Itgal	T	C	7: 126,904,161 (GRCm39)	V258A	possibly damaging	Het
Kpna4	A	G	3: 68,997,134 (GRCm39)	V351A	probably benign	Het
Lama5	T	C	2: 179,839,267 (GRCm39)	Q747R	probably damaging	Het
Map4k5	A	G	12: 69,891,164 (GRCm39)	F168L	probably damaging	Het
Mecom	A	G	3: 30,015,195 (GRCm39)	Y843H	probably damaging	Het
Mical3	T	C	6: 121,010,711 (GRCm39)	M424V	probably damaging	Het
Mtrfr	G	T	5: 124,478,837 (GRCm39)	E153*	probably null	Het
Myb	A	G	10: 21,028,398 (GRCm39)	I155T	probably damaging	Het
Nbea	A	T	3: 55,588,404 (GRCm39)	V2445E	probably benign	Het
Nlrp1b	A	T	11: 71,108,691 (GRCm39)	I270N	probably damaging	Het
Nlrp4f	A	T	13: 65,342,895 (GRCm39)	M250K	probably benign	Het
Or13c7	T	A	4: 43,854,898 (GRCm39)	N196K	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or52w1	C	T	7: 105,017,776 (GRCm39)	A72V	probably damaging	Het
P4ha1	A	G	10: 59,178,618 (GRCm39)	S96G	probably benign	Het
Pcnt	G	T	10: 76,247,456 (GRCm39)	N1025K	possibly damaging	Het
Pgap4	T	C	4: 49,586,613 (GRCm39)	E185G	probably damaging	Het
Phactr4	A	G	4: 132,114,220 (GRCm39)	F58S	probably damaging	Het
Phlpp1	T	A	1: 106,291,960 (GRCm39)		probably null	Het
Rab40c	A	C	17: 26,103,631 (GRCm39)	V144G	probably damaging	Het
Rnasel	A	G	1: 153,630,146 (GRCm39)	I221V	probably benign	Het
Rrbp1	C	G	2: 143,791,597 (GRCm39)	E1370Q	probably benign	Het
Rttn	T	C	18: 89,139,133 (GRCm39)	Y2111H	probably damaging	Het
Samd8	A	G	14: 21,843,152 (GRCm39)	H364R	probably damaging	Het
Scnm1	T	C	3: 95,037,596 (GRCm39)	I157V	probably benign	Het
Setdb1	A	G	3: 95,246,153 (GRCm39)	Y590H	probably damaging	Het
Shkbp1	T	C	7: 27,041,949 (GRCm39)	N635S	probably benign	Het
Trpm6	A	G	19: 18,869,383 (GRCm39)	D1990G	possibly damaging	Het
Usp48	A	G	4: 137,343,129 (GRCm39)	N426S	probably benign	Het
Vmn2r16	G	A	5: 109,511,613 (GRCm39)	V607M	possibly damaging	Het
Xdh	A	T	17: 74,205,315 (GRCm39)	V1050D	probably damaging	Het
Zfp110	C	T	7: 12,582,672 (GRCm39)	T440I	possibly 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
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'- AAGATTTCAGGGGCCCTACAATG -3'
(R):5'- AGTAGATATGGCATCTAGTTCTCAGC -3'

Sequencing Primer
(F):5'- GGGCCCTACAATGAGAAAAATAAC -3'
(R):5'- ATATGGCATCTAGTTCTCAGCATTTC -3'

Posted On

2017-03-31