Mutagenetix > Incidental Mutation

Incidental Mutation 'R7070:Rps6ka1'

548822

Institutional Source

Beutler Lab

Gene Symbol

Rps6ka1

Ensembl Gene

ENSMUSG00000003644

Gene Name

ribosomal protein S6 kinase polypeptide 1

Synonyms

Rsk1

MMRRC Submission

045166-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7070 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

133574601-133615108 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 133588759 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 285 (T285A)

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: T384A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000003741
Gene: ENSMUSG00000003644
AA Change: T384A

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: T395A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101514
Gene: ENSMUSG00000003644
AA Change: T395A

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 benign
Transcript: ENSMUST00000137486
AA Change: T401A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000119328
Gene: ENSMUSG00000003644
AA Change: T401A

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: T396A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000121341
Gene: ENSMUSG00000003644
AA Change: T396A

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 benign
Transcript: ENSMUST00000168974
AA Change: T379A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126774
Gene: ENSMUSG00000003644
AA Change: T379A

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 benign
Transcript: ENSMUST00000174481
AA Change: T285A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000134507
Gene: ENSMUSG00000003644
AA Change: T285A

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: 99.7%
20x: 99.1%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544G11Rik	T	C	6: 65,930,232 (GRCm39)	Y156H	probably damaging	Het
Abca13	T	A	11: 9,240,701 (GRCm39)	F855I	probably benign	Het
Abca2	T	G	2: 25,333,007 (GRCm39)	F1569V	probably benign	Het
Adcy8	T	A	15: 64,792,404 (GRCm39)	N184I	probably damaging	Het
Akap3	T	C	6: 126,850,987 (GRCm39)	V835A	probably damaging	Het
Atg5	T	A	10: 44,162,150 (GRCm39)	L22H	probably damaging	Het
Atp13a5	A	G	16: 29,152,879 (GRCm39)	F196L	possibly damaging	Het
C1qtnf9	A	G	14: 61,017,232 (GRCm39)	H254R	probably damaging	Het
Capza3	C	T	6: 139,987,646 (GRCm39)	R82C	probably damaging	Het
Ccdc126	A	G	6: 49,316,796 (GRCm39)	D92G	probably damaging	Het
Cdh12	T	A	15: 21,583,915 (GRCm39)	M585K	probably benign	Het
Chrnb3	A	T	8: 27,883,989 (GRCm39)	Y242F	probably damaging	Het
Cngb3	T	C	4: 19,425,593 (GRCm39)	V467A	possibly damaging	Het
Cnot8	A	G	11: 58,008,278 (GRCm39)	D248G	probably benign	Het
Cntn1	C	T	15: 92,151,917 (GRCm39)	T452M	probably damaging	Het
Cygb	C	A	11: 116,544,851 (GRCm39)		probably benign	Het
D930020B18Rik	G	A	10: 121,477,879 (GRCm39)	V35M	probably damaging	Het
Dcaf17	C	T	2: 70,918,857 (GRCm39)	T477M	probably benign	Het
Dpp3	A	T	19: 4,968,356 (GRCm39)	F239I	probably benign	Het
Dst	T	A	1: 34,314,383 (GRCm39)	V6442E	probably damaging	Het
Enpp2	T	A	15: 54,762,685 (GRCm39)	I188F	probably damaging	Het
Galnt5	A	G	2: 57,888,621 (GRCm39)	M74V	probably benign	Het
Grin2a	T	C	16: 9,397,288 (GRCm39)	D933G	possibly damaging	Het
Gtf2i	T	A	5: 134,311,657 (GRCm39)	E223D	probably damaging	Het
H2-M5	C	A	17: 37,300,051 (GRCm39)	G41V	possibly damaging	Het
Hars2	C	T	18: 36,924,165 (GRCm39)	R501*	probably null	Het
Heatr4	A	G	12: 84,016,632 (GRCm39)	V545A	probably benign	Het
Hsd3b3	T	A	3: 98,649,787 (GRCm39)	T179S	possibly damaging	Het
Ighv5-6	A	G	12: 113,589,429 (GRCm39)	V17A	probably damaging	Het
Jak3	A	G	8: 72,137,255 (GRCm39)	D772G	probably damaging	Het
Jakmip2	A	T	18: 43,690,393 (GRCm39)		probably null	Het
Kcnj15	C	G	16: 95,096,690 (GRCm39)	T104S	probably damaging	Het
Kndc1	A	G	7: 139,501,744 (GRCm39)	E927G	probably damaging	Het
Larp1b	G	T	3: 40,931,086 (GRCm39)	G275C	probably damaging	Het
Lyst	C	A	13: 13,932,029 (GRCm39)	H3552Q	probably benign	Het
Mast2	A	T	4: 116,168,052 (GRCm39)	I960N	probably benign	Het
Mcee	G	A	7: 64,050,078 (GRCm39)	V70I	possibly damaging	Het
Muc16	G	A	9: 18,557,219 (GRCm39)	Q3025*	probably null	Het
Nrg1	T	A	8: 32,339,465 (GRCm39)	T45S	probably damaging	Het
Nutm1	T	A	2: 112,079,806 (GRCm39)	H703L	probably benign	Het
Or5m10	G	A	2: 85,718,034 (GRCm39)	V297I	probably benign	Het
Or7a38	A	T	10: 78,753,102 (GRCm39)	I143L	probably benign	Het
Pbx1	A	C	1: 168,023,337 (GRCm39)	C273G	probably damaging	Het
Peg10	ACATCAGGATCC	ACATCAGGATCCCCATCAGGATCC	6: 4,756,454 (GRCm39)		probably benign	Het
Phf1	A	G	17: 27,153,307 (GRCm39)	T42A	possibly damaging	Het
Pigm	T	A	1: 172,205,233 (GRCm39)	I323N	probably damaging	Het
Plcg2	G	A	8: 118,323,045 (GRCm39)	R700H	probably benign	Het
Ptx4	G	A	17: 25,341,971 (GRCm39)	A149T	probably benign	Het
Rab6a	A	G	7: 100,279,064 (GRCm39)	D68G	probably damaging	Het
Rcan3	C	T	4: 135,143,898 (GRCm39)	E185K	probably damaging	Het
Rnf14	A	G	18: 38,434,781 (GRCm39)	N76S	possibly damaging	Het
Rpf1	A	T	3: 146,217,939 (GRCm39)	F192I	probably damaging	Het
Rrp8	T	C	7: 105,384,083 (GRCm39)	K94E	possibly damaging	Het
Rsbn1	A	G	3: 103,836,299 (GRCm39)	K122E	probably damaging	Het
Senp1	T	C	15: 97,980,187 (GRCm39)	T53A	possibly damaging	Het
Slc23a1	T	G	18: 35,754,834 (GRCm39)	D519A	probably damaging	Het
Slfn14	T	G	11: 83,167,531 (GRCm39)	R661S	probably benign	Het
Snta1	T	C	2: 154,222,979 (GRCm39)	E248G	probably benign	Het
Son	CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG	CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG	16: 91,453,729 (GRCm39)		probably benign	Het
Spmap2l	G	T	5: 77,195,124 (GRCm39)		probably null	Het
Stk11ip	C	T	1: 75,504,259 (GRCm39)	H297Y	probably benign	Het
Synpr	T	A	14: 13,493,628 (GRCm38)	F76I	probably damaging	Het
Tns2	A	G	15: 102,012,968 (GRCm39)	R27G	possibly damaging	Het
Trav5-4	C	T	14: 53,941,912 (GRCm39)	S95F	possibly damaging	Het
Ttyh1	T	C	7: 4,136,363 (GRCm39)	Y330H	probably damaging	Het
Ugt1a2	T	A	1: 88,129,224 (GRCm39)		probably null	Het
Vmn2r69	T	C	7: 85,060,688 (GRCm39)	I299V	probably damaging	Het
Vmn2r90	T	A	17: 17,924,313 (GRCm39)	D37E	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
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
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
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'- ACTAGCGGGTTTACATATGGGG -3'
(R):5'- AGATGAGCCTTCAACATGCTC -3'

Sequencing Primer
(F):5'- TTCTGTTTAGGGCAACCG -3'
(R):5'- TCAACATGCTCCCTCCAGG -3'

Posted On

2019-05-13