Mutagenetix > Incidental Mutation

Incidental Mutation 'R5990:Rps6ka1'

481928

Institutional Source

Beutler Lab

Gene Symbol

Rps6ka1

Ensembl Gene

ENSMUSG00000003644

Gene Name

ribosomal protein S6 kinase polypeptide 1

Synonyms

Rsk1

MMRRC Submission

044170-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5990 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

133847290-133887797 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 133866397 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 177 (I177T)

Ref Sequence

ENSEMBL: ENSMUSP00000126774 (fasta)

Gene Model

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

AlphaFold

P18653

Predicted Effect

probably damaging
Transcript: ENSMUST00000003741
AA Change: I193T

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

SMART Domains

Protein: ENSMUSP00000003741
Gene: ENSMUSG00000003644
AA Change: I193T

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 damaging
Transcript: ENSMUST00000105894
AA Change: I193T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101514
Gene: ENSMUSG00000003644
AA Change: I193T

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

probably damaging
Transcript: ENSMUST00000137486
AA Change: I199T

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

SMART Domains

Protein: ENSMUSP00000119328
Gene: ENSMUSG00000003644
AA Change: I199T

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 damaging
Transcript: ENSMUST00000157067
AA Change: I194T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121341
Gene: ENSMUSG00000003644
AA Change: I194T

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 damaging
Transcript: ENSMUST00000168974
AA Change: I177T

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

SMART Domains

Protein: ENSMUSP00000126774
Gene: ENSMUSG00000003644
AA Change: I177T

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

probably damaging
Transcript: ENSMUST00000174481
AA Change: I83T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134507
Gene: ENSMUSG00000003644
AA Change: I83T

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

Meta Mutation Damage Score

0.7772

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.2%

Validation Efficiency

99% (77/78)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	T	10: 76,449,289	M11L	probably benign	Het
Acad10	A	G	5: 121,645,405	L319P	probably damaging	Het
Adam12	C	A	7: 133,931,736	C471F	probably damaging	Het
Arfgef1	A	G	1: 10,172,921	Y1065H	probably damaging	Het
Atp8b3	G	A	10: 80,525,697	T797M	possibly damaging	Het
Auts2	G	A	5: 131,476,895		probably benign	Het
AW209491	C	T	13: 14,637,780	A406V	probably benign	Het
Ccdc146	A	G	5: 21,318,182	S286P	probably benign	Het
Chsy3	GT	G	18: 59,176,166	163	probably null	Het
Cmtr1	T	C	17: 29,702,161	Y794H	probably benign	Het
Copb2	A	G	9: 98,570,325	E54G	probably damaging	Het
Ctsk	A	T	3: 95,501,456	H77L	probably damaging	Het
Dnah3	T	C	7: 120,073,541	Y546C	probably benign	Het
Ephb2	A	T	4: 136,696,055	V304E	probably benign	Het
Ern1	C	T	11: 106,411,769	V420I	probably benign	Het
Esrrg	A	T	1: 188,198,798	E339V	probably damaging	Het
Fbxo10	A	C	4: 45,061,960	F189V	probably damaging	Het
Foxl1	G	T	8: 121,128,421	A154S	probably damaging	Het
Frs3	A	G	17: 47,701,677	D103G	possibly damaging	Het
Gdpd4	A	G	7: 98,040,930	T610A	probably benign	Het
Gm10271	A	T	10: 116,972,592	F6L	probably damaging	Het
Gm4847	C	T	1: 166,643,373	S36N	probably benign	Het
Grm8	G	T	6: 27,363,624	L631I	probably damaging	Het
Ints9	T	A	14: 65,039,328	L648Q	probably damaging	Het
Kansl1l	T	C	1: 66,735,726	H647R	probably damaging	Het
Kcnq1	T	A	7: 143,261,368	H501Q	probably damaging	Het
Kctd20	T	C	17: 28,966,910	L409P	probably benign	Het
Kiss1r	A	G	10: 79,918,707	T12A	probably benign	Het
Kndc1	T	A	7: 139,927,420	V1173E	probably damaging	Het
Kprp	T	C	3: 92,824,774	E323G	probably damaging	Het
Krtap10-4	A	T	10: 77,826,607		probably benign	Het
Lrrc37a	A	G	11: 103,500,958	Y1214H	probably benign	Het
Lysmd3	G	A	13: 81,669,588	G228D	probably damaging	Het
Muc16	G	A	9: 18,659,243	A660V	unknown	Het
Muc5b	T	C	7: 141,858,161	C1615R	unknown	Het
Nans	A	T	4: 46,489,441	N28I	probably damaging	Het
Nlrp4b	C	T	7: 10,714,491	S207L	possibly damaging	Het
Nrd1	T	G	4: 109,019,071	F355V	probably damaging	Het
Nrip2	C	T	6: 128,400,016		probably benign	Het
Nufip1	C	T	14: 76,114,188	P161L	probably damaging	Het
Ogdhl	C	T	14: 32,327,114	H114Y	possibly damaging	Het
Olfr1295	T	A	2: 111,564,674	I257F	probably damaging	Het
Olfr160	G	T	9: 37,712,110	H56Q	probably damaging	Het
Opa1	T	A	16: 29,587,018	W134R	probably damaging	Het
Parp14	G	A	16: 35,841,457	P1403S	probably benign	Het
Patl2	T	C	2: 122,124,484	D361G	probably damaging	Het
Pcx	A	G	19: 4,621,266	D1172G	probably damaging	Het
Phax	A	G	18: 56,575,603	T58A	probably benign	Het
Phf11b	T	A	14: 59,324,926	I177L	possibly damaging	Het
Pole	T	A	5: 110,302,144	V819D	probably damaging	Het
Poll	T	C	19: 45,553,155	D458G	possibly damaging	Het
Polr2m	G	A	9: 71,479,320		probably null	Het
Ppp1r9a	C	A	6: 5,134,660	H928N	probably benign	Het
Prdm2	T	C	4: 143,170,113	N102D	probably damaging	Het
Rbm45	A	T	2: 76,370,412	D95V	probably benign	Het
Rdh19	A	G	10: 127,859,594	M226V	probably benign	Het
Rev3l	T	G	10: 39,823,811	S1435A	probably benign	Het
Rgs20	A	G	1: 4,912,330	I305T	probably benign	Het
Rhobtb2	T	C	14: 69,796,369	N469S	probably damaging	Het
Rif1	C	G	2: 52,095,844	L614V	probably damaging	Het
Samd12	T	A	15: 53,719,623	D105V	probably damaging	Het
Setd3	A	T	12: 108,160,335	D88E	probably benign	Het
Sfmbt2	G	T	2: 10,579,381	V850L	possibly damaging	Het
Slc26a10	C	A	10: 127,178,758	A195S	possibly damaging	Het
Smcp	C	A	3: 92,584,250	A97S	unknown	Het
Stxbp5	G	A	10: 9,835,933	H248Y	probably damaging	Het
Syne2	T	C	12: 76,024,144	L4457P	probably benign	Het
Tbx3	A	G	5: 119,680,529	T390A	probably benign	Het
Tmeff2	G	A	1: 50,979,442	W194*	probably null	Het
Tmem120b	G	A	5: 123,104,481	R174Q	probably damaging	Het
Trio	A	G	15: 27,891,459	V402A	probably benign	Het
Ttll2	C	A	17: 7,352,367	G54W	possibly damaging	Het
Uba7	G	A	9: 107,981,234	V786M	probably damaging	Het
Vmn2r32	T	C	7: 7,479,810	E55G	probably damaging	Het
Wdr35	A	G	12: 9,016,511	D724G	probably damaging	Het
Xrcc1	G	A	7: 24,567,868	V381M	probably damaging	Het
Zdhhc11	T	A	13: 73,979,184	W227R	probably benign	Het
Zfp341	T	C	2: 154,645,659	S681P	probably damaging	Het
Zfp735	T	A	11: 73,690,348	D70E	possibly damaging	Het
Zmat4	G	A	8: 23,929,263	A104T	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
R6211:Rps6ka1	UTSW	4	133869306	missense	probably damaging	0.96
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'- TCAGTCTGCTCTGAGACCTAGG -3'
(R):5'- AGACAAGTTCCCTAGCCATTC -3'

Sequencing Primer
(F):5'- GCTCAGCAGTTAAGAATATTGGCTG -3'
(R):5'- CTAAAGGAGTTACTTTCCCGAGC -3'

Posted On

2017-06-26