Mutagenetix > Incidental Mutation

Incidental Mutation 'R9429:Rps6ka1'

712797

Institutional Source

Beutler Lab

Gene Symbol

Rps6ka1

Ensembl Gene

ENSMUSG00000003644

Gene Name

ribosomal protein S6 kinase polypeptide 1

Synonyms

Rsk1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9429 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

133574601-133615108 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 133598900 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Valine at position 90 (L90V)

Ref Sequence

ENSEMBL: ENSMUSP00000101514 (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: L90V

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000003741
Gene: ENSMUSG00000003644
AA Change: L90V

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: L90V

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

SMART Domains

Protein: ENSMUSP00000101514
Gene: ENSMUSG00000003644
AA Change: L90V

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: L96V

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000119328
Gene: ENSMUSG00000003644
AA Change: L96V

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: L91V

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

SMART Domains

Protein: ENSMUSP00000121341
Gene: ENSMUSG00000003644
AA Change: L91V

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: L74V

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000126774
Gene: ENSMUSG00000003644
AA Change: L74V

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

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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
5930422O12Rik	A	T	8: 33,919,165 (GRCm39)		probably benign	Het
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Adam7	G	C	14: 68,771,080 (GRCm39)	H15Q	probably null	Het
Adgrv1	A	T	13: 81,567,468 (GRCm39)	I5235N	probably damaging	Het
Adgrv1	A	C	13: 81,741,165 (GRCm39)	C100G	probably damaging	Het
Aebp1	A	G	11: 5,821,649 (GRCm39)	T1063A	probably benign	Het
Atmin	A	G	8: 117,670,307 (GRCm39)	R48G	probably benign	Het
Atxn10	A	G	15: 85,346,565 (GRCm39)	E441G	probably benign	Het
Catsper1	T	C	19: 5,389,755 (GRCm39)	V505A	possibly damaging	Het
Chd5	T	C	4: 152,447,364 (GRCm39)	V471A	probably damaging	Het
Cma2	A	G	14: 56,210,276 (GRCm39)	I110V	possibly damaging	Het
Cnst	A	C	1: 179,432,566 (GRCm39)	N243T	probably damaging	Het
Col15a1	A	T	4: 47,310,439 (GRCm39)	N1203I	probably damaging	Het
Col6a3	T	A	1: 90,731,585 (GRCm39)	H1556L	probably benign	Het
Crybg3	T	A	16: 59,375,556 (GRCm39)	K185N	probably benign	Het
Dnah1	G	A	14: 30,997,499 (GRCm39)	Q2620*	probably null	Het
Dusp10	A	C	1: 183,801,091 (GRCm39)	D286A	probably benign	Het
Erich6	A	G	3: 58,536,935 (GRCm39)	V252A	possibly damaging	Het
Fhod1	A	G	8: 106,057,139 (GRCm39)	L945P	probably damaging	Het
Foxh1	C	T	15: 76,553,442 (GRCm39)	R120Q	probably null	Het
Frmd4b	T	C	6: 97,279,252 (GRCm39)	D591G	probably damaging	Het
Gbe1	G	A	16: 70,292,203 (GRCm39)	V512I	probably benign	Het
Ghitm	A	G	14: 36,852,655 (GRCm39)	S142P	probably damaging	Het
Gldc	C	T	19: 30,091,172 (GRCm39)	A808T	possibly damaging	Het
Gm14496	C	T	2: 181,637,934 (GRCm39)	T336I	possibly damaging	Het
Ido2	T	C	8: 25,037,194 (GRCm39)	T171A	probably damaging	Het
Kctd19	A	T	8: 106,109,652 (GRCm39)	I930N	probably damaging	Het
Kctd2	T	C	11: 115,318,277 (GRCm39)	Y187H	probably damaging	Het
L3hypdh	T	C	12: 72,124,203 (GRCm39)	T246A	probably damaging	Het
Lama1	A	G	17: 68,118,449 (GRCm39)	M2554V		Het
Laptm5	A	G	4: 130,655,961 (GRCm39)	Y93C		Het
Mroh2b	T	A	15: 4,963,907 (GRCm39)	L833Q	probably damaging	Het
Ms4a12	T	C	19: 11,193,424 (GRCm39)	D187G	probably damaging	Het
Muc4	C	T	16: 32,576,098 (GRCm39)	T1866I	unknown	Het
Myo1a	G	T	10: 127,543,247 (GRCm39)	D168Y	probably damaging	Het
Nek1	C	T	8: 61,559,892 (GRCm39)	S1005L	probably benign	Het
Nrg1	T	A	8: 32,308,592 (GRCm39)	M523L	probably benign	Het
Nt5c2	T	A	19: 46,877,459 (GRCm39)	H494L	probably benign	Het
Oasl2	G	A	5: 115,043,040 (GRCm39)	V271I	probably benign	Het
Or13a1	T	G	6: 116,471,292 (GRCm39)	S241A	probably damaging	Het
Or52s1	C	T	7: 102,861,871 (GRCm39)	A268V	possibly damaging	Het
Or5e1	G	T	7: 108,354,412 (GRCm39)	M116I	probably damaging	Het
Per2	T	C	1: 91,351,489 (GRCm39)	T1006A	probably benign	Het
Phyhd1	C	A	2: 30,156,917 (GRCm39)	F19L	probably benign	Het
Pter	T	A	2: 12,985,112 (GRCm39)	D147E	probably benign	Het
Rrp15	A	T	1: 186,481,368 (GRCm39)	D46E	probably benign	Het
Ryr2	A	G	13: 11,809,459 (GRCm39)	F789L	probably damaging	Het
Sepsecs	T	C	5: 52,801,294 (GRCm39)	K456R	probably benign	Het
Septin11	G	A	5: 93,321,397 (GRCm39)		probably null	Het
Sowahb	T	C	5: 93,191,080 (GRCm39)	I546M	possibly damaging	Het
Spata31	C	A	13: 65,070,336 (GRCm39)	T828K	probably benign	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm39)		probably benign	Het
Ston1	A	G	17: 88,943,034 (GRCm39)	T147A	probably benign	Het
Tcf3	G	A	10: 80,252,436 (GRCm39)	P350S	probably benign	Het
Tek	A	G	4: 94,715,515 (GRCm39)	D402G	probably benign	Het
Themis3	T	C	17: 66,866,665 (GRCm39)	R192G	probably damaging	Het
Tmc1	T	A	19: 20,793,548 (GRCm39)	I538F	possibly damaging	Het
Trpc3	T	G	3: 36,705,777 (GRCm39)	I473L	probably benign	Het
Ttll2	A	T	17: 7,620,085 (GRCm39)	L4Q	probably damaging	Het
Urb2	T	A	8: 124,750,226 (GRCm39)	Y5*	probably null	Het
Vav3	T	A	3: 109,564,561 (GRCm39)	Y673*	probably null	Het
Vmn1r32	T	A	6: 66,530,237 (GRCm39)	T180S	probably benign	Het
Vmn1r90	A	T	7: 14,295,647 (GRCm39)	N150K	probably damaging	Het
Zbed6	A	C	1: 133,585,453 (GRCm39)	I628R	probably damaging	Het
Zfp1007	A	T	5: 109,824,334 (GRCm39)	L372*	probably null	Het
Zfp750	G	A	11: 121,404,693 (GRCm39)	R61C	probably damaging	Het
Zfp87	A	G	13: 74,520,703 (GRCm39)	I125T	probably damaging	Het
Zfta	T	C	19: 7,399,594 (GRCm39)	L447P	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
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
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'- GCAAGGGCAGCTTGTTTTCC -3'
(R):5'- TTGGAATGCACCAAAGGATCAG -3'

Sequencing Primer
(F):5'- TTCCACCTCCATGCCAGAG -3'
(R):5'- TCCCCTTGATCTACTGAGGGAGAG -3'

Posted On

2022-05-16