Mutagenetix > Incidental Mutation

Incidental Mutation 'R8723:Rps6kb1'

662235

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

068615-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.953) question?

Stock #

R8723 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86389697-86435631 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86410757 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 164 (T164A)

Ref Sequence

ENSEMBL: ENSMUSP00000119715 (fasta)

Gene Model

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

AlphaFold

Q8BSK8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058286
AA Change: T164A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000053188
Gene: ENSMUSG00000020516
AA Change: T164A

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: ENSMUST00000154617
AA Change: T164A

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000119715
Gene: ENSMUSG00000020516
AA Change: T164A

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

0.5772

Coding Region Coverage

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

Validation Efficiency

100% (55/55)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,360,897 (GRCm39)	H465Q	probably benign	Het
Adam29	T	C	8: 56,324,513 (GRCm39)	H647R	probably damaging	Het
Adamtsl4	C	T	3: 95,584,426 (GRCm39)	R990Q	possibly damaging	Het
Adgrg7	T	G	16: 56,582,282 (GRCm39)	R285S	probably benign	Het
Alkbh1	A	G	12: 87,485,278 (GRCm39)	V115A	probably benign	Het
Ankrd50	A	C	3: 38,511,453 (GRCm39)	F305V	probably damaging	Het
Anpep	A	G	7: 79,488,686 (GRCm39)	S414P	probably damaging	Het
Anxa3	A	G	5: 96,986,206 (GRCm39)	I282V	probably benign	Het
Aoah	T	G	13: 21,184,180 (GRCm39)	Y415D	possibly damaging	Het
Cacna1b	A	G	2: 24,548,510 (GRCm39)	V1188A	probably damaging	Het
Cnot1	A	G	8: 96,462,907 (GRCm39)	I1651T	probably benign	Het
Col6a3	C	G	1: 90,695,328 (GRCm39)		probably benign	Het
Ctnnd1	G	A	2: 84,450,384 (GRCm39)	P279S	probably benign	Het
Dnah10	A	T	5: 124,891,685 (GRCm39)	E3298V	probably damaging	Het
Ear14	C	T	14: 51,441,513 (GRCm39)	T123I	possibly damaging	Het
Elf3	A	G	1: 135,185,385 (GRCm39)	L43P	possibly damaging	Het
Exoc3l4	T	A	12: 111,397,092 (GRCm39)		probably benign	Het
Figla	A	G	6: 85,997,724 (GRCm39)	T151A	probably benign	Het
Fsd1l	A	G	4: 53,647,001 (GRCm39)	E56G	unknown	Het
Gm49359	A	T	13: 62,602,410 (GRCm39)	H263Q	probably damaging	Het
Gprc6a	A	T	10: 51,491,518 (GRCm39)	C744S	probably damaging	Het
Grhl1	G	A	12: 24,662,244 (GRCm39)		probably benign	Het
Gtf2h5	C	CA	17: 6,134,833 (GRCm39)		probably null	Het
Itih3	T	A	14: 30,630,761 (GRCm39)	Q850L	probably damaging	Het
Kcnq5	A	G	1: 21,575,591 (GRCm39)	V285A	probably damaging	Het
Klc4	T	G	17: 46,951,626 (GRCm39)	E165A	probably benign	Het
Lrp2	T	C	2: 69,316,648 (GRCm39)	Y2111C	probably damaging	Het
Lyst	A	G	13: 13,887,342 (GRCm39)	E3057G	possibly damaging	Het
Macf1	G	A	4: 123,348,910 (GRCm39)	Q4006*	probably null	Het
Map4k1	G	A	7: 28,686,542 (GRCm39)	D155N	probably damaging	Het
Ms4a20	A	G	19: 11,083,055 (GRCm39)	Y122H	probably damaging	Het
Myh14	A	G	7: 44,272,407 (GRCm39)	F1466S	probably damaging	Het
Nrip1	T	C	16: 76,089,553 (GRCm39)	D668G	probably damaging	Het
Or5w17	T	C	2: 87,583,501 (GRCm39)	T279A	possibly damaging	Het
Or8k3	A	T	2: 86,058,786 (GRCm39)	H176Q	probably damaging	Het
P2rx1	C	A	11: 72,899,756 (GRCm39)	N120K	probably benign	Het
Pif1	T	A	9: 65,501,673 (GRCm39)	M569K	probably damaging	Het
Prkd2	G	A	7: 16,591,702 (GRCm39)	V578I	possibly damaging	Het
Rhobtb1	A	G	10: 69,106,101 (GRCm39)	Y284C	probably damaging	Het
Rxfp1	T	C	3: 79,557,802 (GRCm39)	T559A	probably benign	Het
Sag	G	A	1: 87,751,175 (GRCm39)		probably null	Het
Smoc1	G	A	12: 81,182,586 (GRCm39)	V138I	possibly damaging	Het
Spag5	T	A	11: 78,212,215 (GRCm39)	I1081N	probably damaging	Het
Stk25	A	G	1: 93,553,666 (GRCm39)	I203T	probably damaging	Het
Strip2	T	A	6: 29,941,863 (GRCm39)	V611E	probably damaging	Het
Sulf1	A	T	1: 12,856,911 (GRCm39)	D54V	probably damaging	Het
Tacr2	A	G	10: 62,094,107 (GRCm39)	D188G	probably damaging	Het
Tmem237	A	T	1: 59,145,731 (GRCm39)	Y358N	probably damaging	Het
Trim27	A	C	13: 21,374,807 (GRCm39)		probably benign	Het
Tsen34	A	G	7: 3,698,149 (GRCm39)	E139G	probably benign	Het
Ttc39a	T	A	4: 109,300,700 (GRCm39)		probably benign	Het
Tubgcp3	A	T	8: 12,671,899 (GRCm39)	I781N	probably damaging	Het
Uqcc1	C	T	2: 155,729,100 (GRCm39)	W21*	probably null	Het
Vmn2r117	A	T	17: 23,696,343 (GRCm39)	W355R	probably damaging	Het
Vmn2r89	T	C	14: 51,693,910 (GRCm39)	V420A	probably benign	Het
Zdhhc21	A	T	4: 82,762,439 (GRCm39)	I52K	probably benign	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
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
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'- GTGGATTACAATAGATAACCCAGC -3'
(R):5'- GTGAGTAGCCTCCATTACCC -3'

Sequencing Primer
(F):5'- AACCCAGCTTATTACTGTGTTAATAC -3'
(R):5'- CTGGTAGAAACTATTGTGTATTAGCC -3'

Posted On

2021-03-08