Mutagenetix > Incidental Mutation

Incidental Mutation 'R5450:Rps6kb1'

429293

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

043015-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.941) question?

Stock #

R5450 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86389697-86435631 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86423663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 106 (F106I)

Ref Sequence

ENSEMBL: ENSMUSP00000053188 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058286] [ENSMUST00000138810] [ENSMUST00000154617]

AlphaFold

Q8BSK8

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000020824

Predicted Effect

probably damaging
Transcript: ENSMUST00000058286
AA Change: F106I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000053188
Gene: ENSMUSG00000020516
AA Change: F106I

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

possibly damaging
Transcript: ENSMUST00000138810
AA Change: F53I

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000122756
Gene: ENSMUSG00000020516
AA Change: F53I

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

noncoding transcript
Transcript: ENSMUST00000151748

Predicted Effect

probably damaging
Transcript: ENSMUST00000154617
AA Change: F106I

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000119715
Gene: ENSMUSG00000020516
AA Change: F106I

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

Meta Mutation Damage Score

0.6379

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

97% (74/76)

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
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Arhgef4	T	G	1: 34,846,405 (GRCm39)		probably benign	Het
Atg14	T	C	14: 47,788,921 (GRCm39)	N144S	probably benign	Het
Cacna1h	A	T	17: 25,602,160 (GRCm39)	M1454K	probably damaging	Het
Catsperb	A	T	12: 101,412,327 (GRCm39)	H138L	possibly damaging	Het
Cd200r2	T	A	16: 44,729,934 (GRCm39)	D159E	probably benign	Het
Cd79a	G	T	7: 24,598,687 (GRCm39)	G79C	probably damaging	Het
Ceacam20	A	G	7: 19,712,133 (GRCm39)	H38R	possibly damaging	Het
Cers1	T	C	8: 70,770,947 (GRCm39)	L119P	probably damaging	Het
Ces1f	C	A	8: 93,992,423 (GRCm39)	V343L	probably benign	Het
Ces3a	G	A	8: 105,784,550 (GRCm39)	G511S	possibly damaging	Het
Cyfip2	A	G	11: 46,175,079 (GRCm39)	C98R	probably benign	Het
Cyp2j11	C	A	4: 96,228,113 (GRCm39)	V169L	probably benign	Het
Cyp4f17	A	G	17: 32,747,860 (GRCm39)	T523A	probably benign	Het
Ddx31	T	C	2: 28,776,981 (GRCm39)	S567P	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dsg1b	A	C	18: 20,542,121 (GRCm39)	H876P	probably damaging	Het
Edrf1	G	T	7: 133,260,339 (GRCm39)	M83I	probably damaging	Het
Eno4	T	C	19: 58,948,679 (GRCm39)	F393S	possibly damaging	Het
Eral1	C	T	11: 77,969,183 (GRCm39)	D106N	probably benign	Het
Esp18	G	T	17: 39,719,070 (GRCm39)	R23M	probably benign	Het
Fam184b	C	T	5: 45,697,143 (GRCm39)	V674I	probably benign	Het
Fbxw13	A	C	9: 109,013,225 (GRCm39)	N154K	probably benign	Het
Gtpbp6	A	G	5: 110,254,991 (GRCm39)	V130A	probably damaging	Het
Hc	T	C	2: 34,903,050 (GRCm39)	D1067G	possibly damaging	Het
Ighg1	A	T	12: 113,294,126 (GRCm39)	S6T	unknown	Het
Ikzf3	C	T	11: 98,357,912 (GRCm39)	R475H	probably damaging	Het
Itprid1	T	A	6: 55,945,796 (GRCm39)		probably null	Het
Kcmf1	A	T	6: 72,819,913 (GRCm39)	L311*	probably null	Het
Kmt2d	C	A	15: 98,752,967 (GRCm39)	E184D	probably damaging	Het
Lrguk	A	T	6: 34,047,996 (GRCm39)	I314F	probably damaging	Het
Maml2	A	C	9: 13,617,763 (GRCm39)	S370R	probably damaging	Het
Mroh1	C	A	15: 76,316,547 (GRCm39)		probably benign	Het
Mx1	A	T	16: 97,255,347 (GRCm39)	Y235*	probably null	Het
Or4x6	A	G	2: 89,949,013 (GRCm39)	*310Q	probably null	Het
Pamr1	T	G	2: 102,469,662 (GRCm39)	Y403D	probably damaging	Het
Panx2	A	G	15: 88,953,162 (GRCm39)	E551G	possibly damaging	Het
Patl2	A	G	2: 121,955,762 (GRCm39)	V258A	probably benign	Het
Ppm1m	A	G	9: 106,074,041 (GRCm39)	F255L	probably benign	Het
Prpf40a	G	T	2: 53,046,938 (GRCm39)	T266N	possibly damaging	Het
Psg18	T	A	7: 18,087,350 (GRCm39)	I103F	probably benign	Het
Rpl39-ps	A	G	15: 102,543,583 (GRCm39)		noncoding transcript	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Sardh	G	T	2: 27,129,710 (GRCm39)	T245K	possibly damaging	Het
Shprh	T	G	10: 11,088,074 (GRCm39)	I1619S	possibly damaging	Het
Skint1	G	A	4: 111,882,729 (GRCm39)	V258I	probably benign	Het
Slc27a5	T	C	7: 12,728,869 (GRCm39)	D331G	probably benign	Het
Slc29a2	A	G	19: 5,079,303 (GRCm39)	I309V	probably benign	Het
Slc30a5	C	T	13: 100,957,680 (GRCm39)	V130I	possibly damaging	Het
Slc4a3	C	A	1: 75,529,300 (GRCm39)	A531D	probably damaging	Het
Slc6a16	C	T	7: 44,910,672 (GRCm39)	T399I	probably benign	Het
Slitrk6	T	A	14: 110,987,529 (GRCm39)	H726L	probably benign	Het
Snx2	A	G	18: 53,343,784 (GRCm39)	K309R	probably damaging	Het
Speer4f2	T	A	5: 17,578,217 (GRCm39)	C4S	possibly damaging	Het
Sulf1	T	C	1: 12,867,131 (GRCm39)	V105A	probably benign	Het
Tcstv7a	A	T	13: 120,289,899 (GRCm39)	V99E	probably damaging	Het
Tmem8b	G	A	4: 43,673,992 (GRCm39)	V208I	probably benign	Het
Vmn1r47	T	C	6: 89,999,195 (GRCm39)	L109P	probably damaging	Het
Vmn1r73	C	A	7: 11,490,376 (GRCm39)	Q65K	possibly damaging	Het
Vmn1r76	T	C	7: 11,664,611 (GRCm39)	Y166C	probably damaging	Het
Vmn2r2	T	C	3: 64,034,011 (GRCm39)	T504A	probably benign	Het
Wdr75	C	A	1: 45,851,324 (GRCm39)	A300E	probably benign	Het
Yars1	A	G	4: 129,091,039 (GRCm39)	E149G	possibly damaging	Het
Zbtb18	T	C	1: 177,274,771 (GRCm39)	F35L	probably damaging	Het
Zfp366	A	G	13: 99,366,093 (GRCm39)	Y418C	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
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'- TTTCCTTTTCTGGGAAGATTAAGCCC -3'
(R):5'- AGAAAGGCCCACAGATTGCC -3'

Sequencing Primer
(F):5'- CTGGGAAGATTAAGCCCTGGATCTC -3'
(R):5'- GATTGCCCTAATCCTAAAATGTGGCC -3'

Posted On

2016-09-06