Mutagenetix > Incidental Mutation

Incidental Mutation 'R2571:Rps6ka1'

252487

Institutional Source

Beutler Lab

Gene Symbol

Rps6ka1

Ensembl Gene

ENSMUSG00000003644

Gene Name

ribosomal protein S6 kinase polypeptide 1

Synonyms

Rsk1

MMRRC Submission

040429-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2571 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

133574601-133615108 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 133587923 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134507 (fasta)

Gene Model

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

AlphaFold

P18653

Predicted Effect

probably null
Transcript: ENSMUST00000003741

SMART Domains

Protein: ENSMUSP00000003741
Gene: ENSMUSG00000003644

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

probably null
Transcript: ENSMUST00000105894

SMART Domains

Protein: ENSMUSP00000101514
Gene: ENSMUSG00000003644

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: ENSMUST00000129636

Predicted Effect

probably null
Transcript: ENSMUST00000137486

SMART Domains

Protein: ENSMUSP00000119328
Gene: ENSMUSG00000003644

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 null
Transcript: ENSMUST00000137486

SMART Domains

Protein: ENSMUSP00000119328
Gene: ENSMUSG00000003644

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 null
Transcript: ENSMUST00000157067

SMART Domains

Protein: ENSMUSP00000121341
Gene: ENSMUSG00000003644

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

probably null
Transcript: ENSMUST00000168974

SMART Domains

Protein: ENSMUSP00000126774
Gene: ENSMUSG00000003644

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: ENSMUST00000173989

Predicted Effect

probably null
Transcript: ENSMUST00000174481

SMART Domains

Protein: ENSMUSP00000134507
Gene: ENSMUSG00000003644

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

Predicted Effect

probably null
Transcript: ENSMUST00000174481

SMART Domains

Protein: ENSMUSP00000134507
Gene: ENSMUSG00000003644

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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 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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,289,044 (GRCm39)	N2438S	probably benign	Het
Ago3	G	A	4: 126,257,604 (GRCm39)	R476W	probably damaging	Het
Akap8	T	C	17: 32,534,429 (GRCm39)	E339G	probably damaging	Het
Apba2	T	C	7: 64,395,498 (GRCm39)	V658A	probably damaging	Het
Bcl3	T	C	7: 19,543,452 (GRCm39)	D338G	probably damaging	Het
Bpnt2	C	T	4: 4,778,192 (GRCm39)		probably null	Het
Ccdc138	T	C	10: 58,349,044 (GRCm39)	Y197H	probably benign	Het
Ccdc162	T	A	10: 41,428,393 (GRCm39)	Q499L	probably damaging	Het
Ccser1	G	A	6: 61,399,944 (GRCm39)	C21Y	probably damaging	Het
Chil6	A	T	3: 106,297,709 (GRCm39)	Y229*	probably null	Het
Cntnap5a	C	T	1: 116,112,092 (GRCm39)	R461C	probably damaging	Het
Col19a1	T	A	1: 24,413,712 (GRCm39)	R407S	unknown	Het
Crlf3	A	T	11: 79,938,339 (GRCm39)	F433I	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Dnah10	A	T	5: 124,852,542 (GRCm39)	R1867W	probably damaging	Het
Dsg3	T	C	18: 20,673,062 (GRCm39)	V911A	probably benign	Het
Dzip3	T	C	16: 48,792,581 (GRCm39)		probably null	Het
Evpl	T	C	11: 116,128,795 (GRCm39)	Q10R	unknown	Het
Glra3	C	T	8: 56,563,516 (GRCm39)	A337V	probably benign	Het
H2-T5	C	T	17: 36,478,553 (GRCm39)	G132R	possibly damaging	Het
Hcfc2	T	C	10: 82,544,857 (GRCm39)	F163S	probably damaging	Het
Hells	T	C	19: 38,948,177 (GRCm39)	V701A	possibly damaging	Het
Helz	A	G	11: 107,504,778 (GRCm39)	T422A	probably benign	Het
Hhat	G	A	1: 192,235,330 (GRCm39)	T442I	probably damaging	Het
Hmces	A	T	6: 87,913,202 (GRCm39)	Q319L	possibly damaging	Het
Ighv1-62-1	T	A	12: 115,350,377 (GRCm39)	T97S	probably damaging	Het
Kcne2	C	T	16: 92,093,800 (GRCm39)	T109I	probably damaging	Het
Kcnq1	T	G	7: 142,661,433 (GRCm39)	L113R	probably benign	Het
Kdm5d	T	C	Y: 940,932 (GRCm39)	S1106P	probably benign	Het
Kel	C	A	6: 41,665,001 (GRCm39)	A588S	possibly damaging	Het
Kmt2e	T	A	5: 23,706,885 (GRCm39)	F1483I	probably benign	Het
Krt4	T	A	15: 101,829,692 (GRCm39)	N279Y	probably damaging	Het
Lama4	T	A	10: 38,918,671 (GRCm39)	M384K	possibly damaging	Het
Lepr	C	T	4: 101,625,369 (GRCm39)	T508I	possibly damaging	Het
Lypd10	A	G	7: 24,412,819 (GRCm39)	I76V	probably benign	Het
Map1lc3b	T	A	8: 122,320,213 (GRCm39)		probably null	Het
Me1	T	C	9: 86,536,751 (GRCm39)	H108R	probably damaging	Het
Mindy4	T	C	6: 55,261,770 (GRCm39)	S560P	probably damaging	Het
Mmp3	T	A	9: 7,451,844 (GRCm39)	I394N	possibly damaging	Het
Mmrn2	T	C	14: 34,124,896 (GRCm39)	S826P	probably damaging	Het
Or13n4	T	A	7: 106,422,933 (GRCm39)	M267L	probably benign	Het
Osbpl7	T	C	11: 96,945,667 (GRCm39)	L138P	probably damaging	Het
Pcdhga11	G	A	18: 37,889,921 (GRCm39)	E310K	probably damaging	Het
Pcif1	A	G	2: 164,726,131 (GRCm39)	D39G	probably damaging	Het
Ppp1r21	C	T	17: 88,852,810 (GRCm39)	T63I	probably benign	Het
Prickle2	T	C	6: 92,682,381 (GRCm39)	Q25R	probably benign	Het
Ptk2	A	G	15: 73,103,768 (GRCm39)	L94P	probably damaging	Het
Ptprg	T	C	14: 12,122,135 (GRCm38)	F333S	probably benign	Het
Rag2	T	A	2: 101,460,312 (GRCm39)	H207Q	probably damaging	Het
Rps6ka4	G	T	19: 6,815,471 (GRCm39)	H174Q	probably damaging	Het
Rreb1	C	A	13: 38,083,613 (GRCm39)	T92K	probably damaging	Het
Ryr1	A	T	7: 28,708,987 (GRCm39)	M4793K	unknown	Het
Ryr1	T	A	7: 28,735,551 (GRCm39)	M4076L	possibly damaging	Het
Sec16a	A	C	2: 26,329,343 (GRCm39)	S891A	probably benign	Het
Sgsh	A	G	11: 119,241,340 (GRCm39)	Y132H	probably damaging	Het
Sos2	T	A	12: 69,682,492 (GRCm39)	E242V	possibly damaging	Het
Spata31d1c	G	T	13: 65,184,198 (GRCm39)	R580L	probably damaging	Het
Spata9	C	A	13: 76,115,880 (GRCm39)		probably benign	Het
Tead2	T	A	7: 44,875,194 (GRCm39)	V202E	probably damaging	Het
Thada	T	C	17: 84,762,068 (GRCm39)	K168E	probably damaging	Het
Tmem64	T	C	4: 15,266,718 (GRCm39)	I256T	probably damaging	Het
Tra2a	G	T	6: 49,229,421 (GRCm39)		probably benign	Het
Trim30a	T	A	7: 104,078,533 (GRCm39)	N181I	possibly damaging	Het
Ttc13	A	C	8: 125,410,538 (GRCm39)	Y372D	probably damaging	Het
Vit	T	C	17: 78,894,174 (GRCm39)	V192A	probably benign	Het
Vmn2r69	T	C	7: 85,064,764 (GRCm39)	T41A	probably benign	Het
Vps13d	C	A	4: 144,875,706 (GRCm39)	K1600N	probably benign	Het
Xpnpep3	A	T	15: 81,335,127 (GRCm39)	H420L	probably damaging	Het
Zfp322a	A	G	13: 23,540,614 (GRCm39)	L376P	probably damaging	Het
Zfp619	T	C	7: 39,186,595 (GRCm39)	L875P	probably damaging	Het
Zic5	T	A	14: 122,696,890 (GRCm39)	Q575L	unknown	Het

Other mutations in Rps6ka1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01060:Rps6ka1	APN	4	133,588,181 (GRCm39)	missense	probably damaging	0.99
IGL01388:Rps6ka1	APN	4	133,599,275 (GRCm39)	missense	probably damaging	0.96
IGL02314:Rps6ka1	APN	4	133,578,065 (GRCm39)	missense	probably damaging	1.00
IGL02803:Rps6ka1	APN	4	133,608,265 (GRCm39)	missense	probably benign	0.01
IGL02902:Rps6ka1	APN	4	133,599,292 (GRCm39)	missense	possibly damaging	0.82
IGL02945:Rps6ka1	APN	4	133,594,510 (GRCm39)	missense	probably damaging	1.00
R0240:Rps6ka1	UTSW	4	133,575,842 (GRCm39)	missense	probably benign	0.00
R0240:Rps6ka1	UTSW	4	133,575,842 (GRCm39)	missense	probably benign	0.00
R1512:Rps6ka1	UTSW	4	133,578,315 (GRCm39)	missense	probably damaging	0.99
R1732:Rps6ka1	UTSW	4	133,587,381 (GRCm39)	missense	probably damaging	1.00
R1883:Rps6ka1	UTSW	4	133,591,354 (GRCm39)	missense	probably damaging	1.00
R2086:Rps6ka1	UTSW	4	133,600,280 (GRCm39)	start codon destroyed	probably null
R4764:Rps6ka1	UTSW	4	133,587,868 (GRCm39)	missense	probably damaging	1.00
R5209:Rps6ka1	UTSW	4	133,593,129 (GRCm39)	missense	probably damaging	1.00
R5544:Rps6ka1	UTSW	4	133,599,326 (GRCm39)	missense	probably benign	0.07
R5930:Rps6ka1	UTSW	4	133,598,882 (GRCm39)	missense	probably damaging	0.99
R5990:Rps6ka1	UTSW	4	133,593,708 (GRCm39)	missense	probably damaging	1.00
R6211:Rps6ka1	UTSW	4	133,596,617 (GRCm39)	missense	probably damaging	0.96
R6254:Rps6ka1	UTSW	4	133,594,535 (GRCm39)	missense	possibly damaging	0.87
R7070:Rps6ka1	UTSW	4	133,588,759 (GRCm39)	missense	probably benign
R7134:Rps6ka1	UTSW	4	133,599,373 (GRCm39)	missense	probably benign
R8023:Rps6ka1	UTSW	4	133,594,506 (GRCm39)	missense	probably damaging	1.00
R8197:Rps6ka1	UTSW	4	133,592,673 (GRCm39)	missense	possibly damaging	0.95
R8266:Rps6ka1	UTSW	4	133,590,995 (GRCm39)	missense	probably damaging	1.00
R8354:Rps6ka1	UTSW	4	133,575,864 (GRCm39)	missense	probably benign	0.44
R8356:Rps6ka1	UTSW	4	133,587,368 (GRCm39)	missense	possibly damaging	0.70
R8391:Rps6ka1	UTSW	4	133,591,346 (GRCm39)	missense	probably damaging	0.96
R8454:Rps6ka1	UTSW	4	133,575,864 (GRCm39)	missense	probably benign	0.44
R8961:Rps6ka1	UTSW	4	133,587,362 (GRCm39)	critical splice donor site	probably null
R9045:Rps6ka1	UTSW	4	133,600,150 (GRCm39)	intron	probably benign
R9354:Rps6ka1	UTSW	4	133,594,432 (GRCm39)	critical splice donor site	probably null
R9429:Rps6ka1	UTSW	4	133,598,900 (GRCm39)	missense	probably damaging	0.99
R9436:Rps6ka1	UTSW	4	133,575,963 (GRCm39)	missense	probably damaging	1.00
X0020:Rps6ka1	UTSW	4	133,594,476 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-12-04