Mutagenetix > Incidental Mutation

Incidental Mutation 'R1732:Rps6ka1'

199369

Institutional Source

Beutler Lab

Gene Symbol

Rps6ka1

Ensembl Gene

ENSMUSG00000003644

Gene Name

ribosomal protein S6 kinase polypeptide 1

Synonyms

Rsk1

MMRRC Submission

039764-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1732 (G1)

Quality Score

179

Status

Validated

Chromosome

Chromosomal Location

133574601-133615108 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 133587381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 531 (Y531N)

Ref Sequence

ENSEMBL: ENSMUSP00000119328 (fasta)

Gene Model

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

AlphaFold

P18653

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003741
AA Change: Y514N

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000003741
Gene: ENSMUSG00000003644
AA Change: Y514N

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 benign
Transcript: ENSMUST00000105894
AA Change: Y525N

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000101514
Gene: ENSMUSG00000003644
AA Change: Y525N

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 damaging
Transcript: ENSMUST00000137486
AA Change: Y531N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119328
Gene: ENSMUSG00000003644
AA Change: Y531N

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

possibly damaging
Transcript: ENSMUST00000157067
AA Change: Y526N

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000121341
Gene: ENSMUSG00000003644
AA Change: Y526N

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: Y509N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000126774
Gene: ENSMUSG00000003644
AA Change: Y509N

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 damaging
Transcript: ENSMUST00000174481
AA Change: Y415N

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134507
Gene: ENSMUSG00000003644
AA Change: Y415N

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

0.9553

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.6%

Validation Efficiency

99% (78/79)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	A	12: 71,265,995 (GRCm39)	Q1445K	probably benign	Het
Acacb	A	T	5: 114,328,148 (GRCm39)	M303L	possibly damaging	Het
Actl9	T	C	17: 33,652,096 (GRCm39)	V52A	probably damaging	Het
Adam7	T	C	14: 68,735,899 (GRCm39)	T781A	probably benign	Het
Agpat4	T	C	17: 12,435,615 (GRCm39)	V293A	probably benign	Het
Ank1	T	A	8: 23,601,479 (GRCm39)		probably benign	Het
Atp1a1	C	A	3: 101,492,115 (GRCm39)	G587V	probably damaging	Het
Avpr1b	T	C	1: 131,527,992 (GRCm39)	F172L	probably damaging	Het
Bmp1	A	T	14: 70,723,705 (GRCm39)	D710E	possibly damaging	Het
Cep126	A	T	9: 8,099,762 (GRCm39)	I924N	probably benign	Het
Chek2	G	T	5: 111,019,968 (GRCm39)	A517S	probably benign	Het
Cmbl	A	T	15: 31,588,378 (GRCm39)	E165D	probably damaging	Het
Cntnap3	A	T	13: 64,888,626 (GRCm39)		probably null	Het
Col1a1	A	T	11: 94,835,241 (GRCm39)		probably benign	Het
Ctbp2	T	C	7: 132,600,653 (GRCm39)	M624V	possibly damaging	Het
Cwc15	A	G	9: 14,421,543 (GRCm39)	D203G	probably benign	Het
Cyld	C	T	8: 89,458,295 (GRCm39)		probably benign	Het
Cyp3a57	A	T	5: 145,302,455 (GRCm39)	I84F	probably damaging	Het
Dennd3	T	A	15: 73,409,267 (GRCm39)		probably benign	Het
Desi2	A	C	1: 178,084,217 (GRCm39)		probably benign	Het
Dmxl1	T	A	18: 50,026,511 (GRCm39)	L1873*	probably null	Het
Dmxl1	T	A	18: 50,036,055 (GRCm39)	H2359Q	probably benign	Het
Ephb4	A	G	5: 137,370,440 (GRCm39)	N880S	possibly damaging	Het
F10	T	C	8: 13,100,764 (GRCm39)	L214P	probably damaging	Het
F5	G	A	1: 164,001,719 (GRCm39)	V141M	probably damaging	Het
Fam135a	A	T	1: 24,065,734 (GRCm39)	S1022T	possibly damaging	Het
Fam13b	A	T	18: 34,620,187 (GRCm39)	N232K	probably benign	Het
Fyco1	T	C	9: 123,648,157 (GRCm39)	E1259G	probably benign	Het
Gak	A	T	5: 108,724,448 (GRCm39)	D1087E	probably benign	Het
Gm7138	A	T	10: 77,612,682 (GRCm39)		probably benign	Het
Gm8674	T	A	13: 50,055,962 (GRCm39)		noncoding transcript	Het
Gpr25	A	G	1: 136,187,866 (GRCm39)	V249A	probably benign	Het
Hcn3	T	C	3: 89,055,426 (GRCm39)	H607R	probably damaging	Het
Hdac4	T	A	1: 91,875,257 (GRCm39)	T905S	probably benign	Het
Itgad	T	C	7: 127,804,279 (GRCm39)	S86P	probably benign	Het
Itgb4	G	T	11: 115,879,744 (GRCm39)	R632L	probably damaging	Het
Kcnb2	A	T	1: 15,779,979 (GRCm39)	T284S	probably benign	Het
Klhl22	T	A	16: 17,594,888 (GRCm39)	M339K	probably damaging	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Mybpc2	C	A	7: 44,163,099 (GRCm39)	V484L	probably benign	Het
Noa1	A	T	5: 77,454,221 (GRCm39)	V473E	probably benign	Het
Nwd1	C	G	8: 73,393,463 (GRCm39)	S242C	possibly damaging	Het
Or55b10	C	A	7: 102,143,247 (GRCm39)	C245F	probably damaging	Het
Or7e174	A	G	9: 20,012,796 (GRCm39)	H247R	probably damaging	Het
Otof	A	T	5: 30,543,815 (GRCm39)	W535R	probably damaging	Het
Peg3	T	C	7: 6,712,084 (GRCm39)	E1046G	possibly damaging	Het
Phldb2	T	C	16: 45,577,529 (GRCm39)	E1132G	probably damaging	Het
Phtf2	A	T	5: 20,994,625 (GRCm39)		probably null	Het
Plce1	G	T	19: 38,705,282 (GRCm39)	A896S	possibly damaging	Het
Prim1	T	C	10: 127,851,193 (GRCm39)	Y26H	probably damaging	Het
Prr12	T	A	7: 44,697,780 (GRCm39)	T712S	unknown	Het
Psme4	G	A	11: 30,798,105 (GRCm39)	R1366H	probably benign	Het
Ptpdc1	T	C	13: 48,740,021 (GRCm39)	E409G	probably benign	Het
Rabep1	A	G	11: 70,795,467 (GRCm39)	N274S	probably damaging	Het
Rbm14	A	G	19: 4,853,495 (GRCm39)	S296P	probably benign	Het
Rec114	A	G	9: 58,560,389 (GRCm39)	S206P	probably damaging	Het
Slc28a2	T	C	2: 122,280,239 (GRCm39)		probably benign	Het
Slc34a1	A	G	13: 55,561,233 (GRCm39)	H566R	probably benign	Het
Slc9c1	A	G	16: 45,373,291 (GRCm39)	T290A	probably benign	Het
Smarcc1	T	A	9: 110,014,888 (GRCm39)		probably benign	Het
Srp54b	T	A	12: 55,299,544 (GRCm39)		probably null	Het
Stambpl1	C	G	19: 34,204,121 (GRCm39)	N70K	probably damaging	Het
Synj1	T	C	16: 90,761,118 (GRCm39)	K710E	probably damaging	Het
Tenm3	T	A	8: 48,763,669 (GRCm39)	D795V	probably damaging	Het
Tgm2	T	C	2: 157,976,277 (GRCm39)	Y149C	probably damaging	Het
Tmem151a	C	A	19: 5,132,895 (GRCm39)	A104S	probably damaging	Het
Top1mt	A	G	15: 75,538,100 (GRCm39)		probably null	Het
Tpgs1	T	A	10: 79,511,428 (GRCm39)	L190Q	possibly damaging	Het
Triobp	T	A	15: 78,851,428 (GRCm39)	H527Q	possibly damaging	Het
Tspan2	A	G	3: 102,676,193 (GRCm39)	I197V	probably damaging	Het
Ube3b	A	G	5: 114,525,506 (GRCm39)	I76V	probably benign	Het
Vmn1r32	A	T	6: 66,530,285 (GRCm39)	S164T	probably benign	Het
Zfp607a	G	T	7: 27,577,884 (GRCm39)	C318F	probably damaging	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
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
R2571:Rps6ka1	UTSW	4	133,587,923 (GRCm39)	splice site	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

PCR Primer
(F):5'- TGCACACAGTAGGCACTGGACAAC -3'
(R):5'- TCCAGCAAGATGGAAGCCCAGATG -3'

Sequencing Primer
(F):5'- ACTGGACAACTGGTCTTGAGTC -3'
(R):5'- CCTGAGCCTGCTTGTCTGG -3'

Posted On

2014-05-23