Mutagenetix > Incidental Mutation

Incidental Mutation 'R6211:Rps6ka1'

503444

Institutional Source

Beutler Lab

Gene Symbol

Rps6ka1

Ensembl Gene

ENSMUSG00000003644

Gene Name

ribosomal protein S6 kinase polypeptide 1

Synonyms

Rsk1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6211 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

133847290-133887797 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 133869306 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 33 (F33Y)

Ref Sequence

ENSEMBL: ENSMUSP00000134507 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003741] [ENSMUST00000105894] [ENSMUST00000137486] [ENSMUST00000157067] [ENSMUST00000168974] [ENSMUST00000174481]

AlphaFold

P18653

Predicted Effect

probably benign
Transcript: ENSMUST00000003741
AA Change: F143Y

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000003741
Gene: ENSMUSG00000003644
AA Change: F143Y

Domain	Start	End	E-Value	Type
S_TKc	62	310	9.36e-88	SMART
S_TK_X	311	372	7.03e-23	SMART
S_TKc	407	664	1.05e-104	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105894
AA Change: F143Y

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101514
Gene: ENSMUSG00000003644
AA Change: F143Y

Domain	Start	End	E-Value	Type
S_TKc	62	321	6.4e-104	SMART
S_TK_X	322	383	7.03e-23	SMART
S_TKc	418	675	1.05e-104	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133742

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134799

Predicted Effect

probably benign
Transcript: ENSMUST00000137486
AA Change: F149Y

PolyPhen 2 Score 0.324 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000119328
Gene: ENSMUSG00000003644
AA Change: F149Y

Domain	Start	End	E-Value	Type
low complexity region	5	20	N/A	INTRINSIC
low complexity region	32	38	N/A	INTRINSIC
S_TKc	68	327	6.4e-104	SMART
S_TK_X	328	389	7.03e-23	SMART
S_TKc	424	681	1.05e-104	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000157067
AA Change: F144Y

PolyPhen 2 Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000121341
Gene: ENSMUSG00000003644
AA Change: F144Y

Domain	Start	End	E-Value	Type
low complexity region	21	31	N/A	INTRINSIC
S_TKc	63	322	6.4e-104	SMART
S_TK_X	323	384	7.03e-23	SMART
S_TKc	419	676	1.05e-104	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168974
AA Change: F127Y

PolyPhen 2 Score 0.726 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000126774
Gene: ENSMUSG00000003644
AA Change: F127Y

Domain	Start	End	E-Value	Type
S_TKc	46	305	6.4e-104	SMART
S_TK_X	306	367	7.03e-23	SMART
S_TKc	402	659	1.05e-104	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173961

Predicted Effect

probably damaging
Transcript: ENSMUST00000174481
AA Change: F33Y

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134507
Gene: ENSMUSG00000003644
AA Change: F33Y

Domain	Start	End	E-Value	Type
S_TKc	1	211	2.13e-68	SMART
S_TK_X	212	273	7.03e-23	SMART
S_TKc	308	565	1.05e-104	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.6%

Validation Efficiency

100% (54/54)

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 RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 nonidentical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	A	T	7: 34,239,004	H1035Q	possibly damaging	Het
Acin1	A	T	14: 54,644,046	W391R	probably damaging	Het
Arl6ip1	A	T	7: 118,127,250	S18R	probably benign	Het
Armc3	G	A	2: 19,296,803		probably null	Het
Casc1	C	T	6: 145,200,491	R95Q	probably damaging	Het
Ccdc162	G	T	10: 41,630,145	S883*	probably null	Het
Cd300lg	A	G	11: 102,054,169	M358V	possibly damaging	Het
Cdh23	A	G	10: 60,410,821	V949A	possibly damaging	Het
Cenpo	C	T	12: 4,216,733	S126N	probably benign	Het
Chd3	A	T	11: 69,352,677	D1366E	probably damaging	Het
Chd4	A	G	6: 125,101,285	E169G	possibly damaging	Het
Clec1b	A	G	6: 129,401,477	T24A	possibly damaging	Het
Clhc1	A	G	11: 29,578,145	I558V	probably damaging	Het
Col5a2	T	A	1: 45,376,666	R1440S	probably damaging	Het
Cops3	A	G	11: 59,817,901		probably benign	Het
Cxcr4	A	G	1: 128,589,450	V158A	probably damaging	Het
Dnah7a	A	G	1: 53,419,636	M3781T	probably damaging	Het
Elovl5	C	A	9: 77,981,502	T217K	probably damaging	Het
Fbln7	G	T	2: 128,895,340	M358I	probably damaging	Het
Fbxl13	C	T	5: 21,484,021	R763Q	possibly damaging	Het
Gabrr3	C	A	16: 59,448,108	N361K	probably benign	Het
Gbp7	A	G	3: 142,545,993	M534V	probably benign	Het
Hcar2	G	A	5: 123,864,954	T162I	probably benign	Het
Hdc	A	T	2: 126,593,977	L658Q	probably damaging	Het
Hivep3	A	G	4: 120,098,405	Y1306C	probably damaging	Het
Homer3	C	T	8: 70,285,524	R49C	probably damaging	Het
Hspa4	C	T	11: 53,262,939	E702K	probably benign	Het
Iqgap3	A	G	3: 88,091,515	N308D	probably benign	Het
Itga8	G	A	2: 12,193,509	T555M	probably damaging	Het
Lrfn5	G	T	12: 61,839,470	V15L	probably benign	Het
Lrrk1	T	C	7: 66,302,710	K493E	possibly damaging	Het
Lyzl6	A	G	11: 103,635,063	I77T	probably damaging	Het
Mavs	G	T	2: 131,240,391	R65L	probably damaging	Het
Mdn1	T	G	4: 32,696,269	D1217E	probably benign	Het
Olfr103	A	T	17: 37,336,708	F175I	possibly damaging	Het
Olfr1502	A	G	19: 13,862,574	I260M	probably benign	Het
Olfr648	A	T	7: 104,179,747	Y220*	probably null	Het
Otof	C	A	5: 30,371,900	V1762L	probably damaging	Het
Pcdha12	T	C	18: 37,020,321	L31P	probably damaging	Het
Pxk	C	A	14: 8,163,952	P515T	probably damaging	Het
Qrich2	A	T	11: 116,453,542	D1759E	probably benign	Het
Rxfp2	G	A	5: 150,044,126		probably null	Het
Slc23a4	A	T	6: 34,956,961	I202N	probably damaging	Het
Slc24a5	A	T	2: 125,088,251	I491F	probably benign	Het
Slco1a1	T	A	6: 141,909,049	K625N	probably benign	Het
Snx31	A	G	15: 36,546,885	V51A	probably damaging	Het
Sox6	G	T	7: 115,801,462	H48Q	probably damaging	Het
Tas2r109	A	T	6: 132,980,624	Y114*	probably null	Het
Tbc1d2	C	T	4: 46,629,912	G252R	probably benign	Het
Timm13	A	C	10: 80,900,480		probably null	Het
Tpsb2	G	A	17: 25,367,763	A250T	possibly damaging	Het
Trpm6	T	C	19: 18,783,128	I131T	probably damaging	Het
Vars2	A	T	17: 35,665,662		probably null	Het
Vmn2r35	T	A	7: 7,786,528	I737F	probably damaging	Het
Wdr46	C	A	17: 33,944,485	T339K	probably damaging	Het

Other mutations in Rps6ka1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01060:Rps6ka1	APN	4	133860870	missense	probably damaging	0.99
IGL01388:Rps6ka1	APN	4	133871964	missense	probably damaging	0.96
IGL02314:Rps6ka1	APN	4	133850754	missense	probably damaging	1.00
IGL02803:Rps6ka1	APN	4	133880954	missense	probably benign	0.01
IGL02902:Rps6ka1	APN	4	133871981	missense	possibly damaging	0.82
IGL02945:Rps6ka1	APN	4	133867199	missense	probably damaging	1.00
R0240:Rps6ka1	UTSW	4	133848531	missense	probably benign	0.00
R0240:Rps6ka1	UTSW	4	133848531	missense	probably benign	0.00
R1512:Rps6ka1	UTSW	4	133851004	missense	probably damaging	0.99
R1732:Rps6ka1	UTSW	4	133860070	missense	probably damaging	1.00
R1883:Rps6ka1	UTSW	4	133864043	missense	probably damaging	1.00
R2086:Rps6ka1	UTSW	4	133872969	start codon destroyed	probably null
R2571:Rps6ka1	UTSW	4	133860612	splice site	probably null
R4764:Rps6ka1	UTSW	4	133860557	missense	probably damaging	1.00
R5209:Rps6ka1	UTSW	4	133865818	missense	probably damaging	1.00
R5544:Rps6ka1	UTSW	4	133872015	missense	probably benign	0.07
R5930:Rps6ka1	UTSW	4	133871571	missense	probably damaging	0.99
R5990:Rps6ka1	UTSW	4	133866397	missense	probably damaging	1.00
R6254:Rps6ka1	UTSW	4	133867224	missense	possibly damaging	0.87
R7070:Rps6ka1	UTSW	4	133861448	missense	probably benign
R7134:Rps6ka1	UTSW	4	133872062	missense	probably benign
R8023:Rps6ka1	UTSW	4	133867195	missense	probably damaging	1.00
R8197:Rps6ka1	UTSW	4	133865362	missense	possibly damaging	0.95
R8266:Rps6ka1	UTSW	4	133863684	missense	probably damaging	1.00
R8354:Rps6ka1	UTSW	4	133848553	missense	probably benign	0.44
R8356:Rps6ka1	UTSW	4	133860057	missense	possibly damaging	0.70
R8391:Rps6ka1	UTSW	4	133864035	missense	probably damaging	0.96
R8454:Rps6ka1	UTSW	4	133848553	missense	probably benign	0.44
R8961:Rps6ka1	UTSW	4	133860051	critical splice donor site	probably null
R9045:Rps6ka1	UTSW	4	133872839	intron	probably benign
R9354:Rps6ka1	UTSW	4	133867121	critical splice donor site	probably null
R9429:Rps6ka1	UTSW	4	133871589	missense	probably damaging	0.99
R9436:Rps6ka1	UTSW	4	133848652	missense	probably damaging	1.00
X0020:Rps6ka1	UTSW	4	133867165	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTAGGCCCAGTCATCCTCAG -3'
(R):5'- AGCTACATTATGGTGAGGCC -3'

Sequencing Primer
(F):5'- AGTCATCCTCAGCACATCCTG -3'
(R):5'- GTGAGGCCACCGACCCC -3'

Posted On

2018-02-27