Mutagenetix > Incidental Mutation

Incidental Mutation 'R4764:Rps6ka1'

357086

Institutional Source

Beutler Lab

Gene Symbol

Rps6ka1

Ensembl Gene

ENSMUSG00000003644

Gene Name

ribosomal protein S6 kinase polypeptide 1

Synonyms

Rsk1

MMRRC Submission

042405-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4764 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

133574601-133615108 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 133587868 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 352 (I352N)

Ref Sequence

ENSEMBL: ENSMUSP00000134507 (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: I451N

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

SMART Domains

Protein: ENSMUSP00000003741
Gene: ENSMUSG00000003644
AA Change: I451N

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: I462N

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

SMART Domains

Protein: ENSMUSP00000101514
Gene: ENSMUSG00000003644
AA Change: I462N

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: I468N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000119328
Gene: ENSMUSG00000003644
AA Change: I468N

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: I463N

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

SMART Domains

Protein: ENSMUSP00000121341
Gene: ENSMUSG00000003644
AA Change: I463N

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: I446N

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

SMART Domains

Protein: ENSMUSP00000126774
Gene: ENSMUSG00000003644
AA Change: I446N

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: I352N

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

SMART Domains

Protein: ENSMUSP00000134507
Gene: ENSMUSG00000003644
AA Change: I352N

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

0.9544

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	T	G	5: 146,122,029 (GRCm39)	S18R	probably benign	Het
2010315B03Rik	A	C	9: 124,056,396 (GRCm39)	V176G	probably benign	Het
Abcb1a	T	A	5: 8,765,732 (GRCm39)		probably null	Het
Acad11	C	A	9: 103,953,076 (GRCm39)	P102T	probably damaging	Het
Aggf1	T	A	13: 95,501,221 (GRCm39)	D387V	probably damaging	Het
Akr1c13	G	A	13: 4,248,496 (GRCm39)	V234I	probably benign	Het
Alg5	A	G	3: 54,653,894 (GRCm39)	Y210C	possibly damaging	Het
Arl8a	C	A	1: 135,074,837 (GRCm39)	A41E	probably benign	Het
Axin1	C	A	17: 26,392,730 (GRCm39)	T337K	possibly damaging	Het
Bdp1	A	G	13: 100,192,775 (GRCm39)	L1353P	probably damaging	Het
Bptf	A	T	11: 106,934,520 (GRCm39)	V2851E	probably damaging	Het
C9	A	T	15: 6,489,124 (GRCm39)	E160D	probably damaging	Het
Cbx6	T	C	15: 79,712,881 (GRCm39)	D182G	probably damaging	Het
Cep57l1	T	C	10: 41,597,678 (GRCm39)	R242G	possibly damaging	Het
Chst8	T	C	7: 34,375,149 (GRCm39)	D230G	probably damaging	Het
Col3a1	A	C	1: 45,385,270 (GRCm39)	D129A	probably damaging	Het
Cst12	A	G	2: 148,631,393 (GRCm39)	E38G	possibly damaging	Het
Disp1	G	T	1: 182,869,660 (GRCm39)	A920E	probably damaging	Het
Dtna	T	G	18: 23,668,206 (GRCm39)		probably null	Het
Elp3	T	A	14: 65,820,378 (GRCm39)	H97L	probably damaging	Het
Exoc8	A	G	8: 125,624,314 (GRCm39)	F18L	possibly damaging	Het
Extl3	T	C	14: 65,314,769 (GRCm39)	T138A	probably benign	Het
Foxi2	G	T	7: 135,012,396 (GRCm39)	G95C	probably damaging	Het
Foxj2	G	T	6: 122,810,230 (GRCm39)	Q196H	probably benign	Het
Frem1	A	T	4: 82,907,426 (GRCm39)	D811E	probably damaging	Het
Frmd4a	A	T	2: 4,608,259 (GRCm39)	E709V	probably damaging	Het
Fscn3	T	A	6: 28,436,200 (GRCm39)	*499K	probably null	Het
Galc	C	T	12: 98,209,003 (GRCm39)	G217D	possibly damaging	Het
Gm5592	G	T	7: 40,865,542 (GRCm39)		probably benign	Het
Gm57858	T	G	3: 36,064,809 (GRCm39)	*521C	probably null	Het
Hnrnpul1	A	G	7: 25,442,436 (GRCm39)	S269P	probably benign	Het
Hrh1	T	C	6: 114,457,496 (GRCm39)	V259A	probably benign	Het
Lef1	T	C	3: 130,978,382 (GRCm39)	S167P	probably benign	Het
Mtf2	T	C	5: 108,241,218 (GRCm39)	I248T	probably benign	Het
Muc2	C	T	7: 141,299,345 (GRCm39)	T130M	possibly damaging	Het
Myo16	T	C	8: 10,485,880 (GRCm39)	F653S	probably damaging	Het
Myo1e	T	C	9: 70,250,417 (GRCm39)		probably null	Het
Myo5a	G	T	9: 75,023,618 (GRCm39)		probably benign	Het
Nlrp1b	T	A	11: 71,073,489 (GRCm39)	D118V	probably damaging	Het
Npat	T	C	9: 53,483,920 (GRCm39)	F1412S	probably damaging	Het
Onecut3	G	T	10: 80,331,541 (GRCm39)	A234S	unknown	Het
Or1ad1	G	A	11: 50,875,602 (GRCm39)	E25K	probably benign	Het
Or8b37	T	G	9: 37,959,436 (GRCm39)	L306R	probably benign	Het
Osbpl6	T	A	2: 76,376,344 (GRCm39)	I73K	probably damaging	Het
Otog	C	T	7: 45,937,943 (GRCm39)	T1884I	probably benign	Het
Pax6	C	A	2: 105,526,847 (GRCm39)	P251Q	probably benign	Het
Pias4	A	G	10: 80,999,868 (GRCm39)	Y62H	possibly damaging	Het
Pknox1	T	A	17: 31,809,687 (GRCm39)	V97D	possibly damaging	Het
Plekhf1	A	G	7: 37,921,022 (GRCm39)	V182A	probably damaging	Het
Plscr4	T	C	9: 92,366,833 (GRCm39)	V149A	probably damaging	Het
Polr2l	A	T	7: 141,053,309 (GRCm39)	L35Q	probably damaging	Het
Ppp3ca	T	C	3: 136,596,250 (GRCm39)	I305T	probably damaging	Het
Ptprg	G	A	14: 12,122,068 (GRCm38)	A311T	probably benign	Het
Raet1e	T	G	10: 22,057,231 (GRCm39)	I185R	probably damaging	Het
Rims1	A	C	1: 22,518,543 (GRCm39)	V520G	probably damaging	Het
Rp1	A	T	1: 4,416,101 (GRCm39)	D1670E	probably damaging	Het
Rtp3	T	C	9: 110,816,418 (GRCm39)		probably benign	Het
Ryr3	T	A	2: 112,563,376 (GRCm39)		probably null	Het
Sall3	A	G	18: 81,017,691 (GRCm39)	V79A	probably damaging	Het
Sdsl	C	T	5: 120,600,119 (GRCm39)	V93M	probably damaging	Het
Slc7a13	A	G	4: 19,819,390 (GRCm39)	N197D	probably benign	Het
Slit1	T	A	19: 41,709,483 (GRCm39)	R137*	probably null	Het
Stxbp5	C	A	10: 9,646,367 (GRCm39)	R115L	probably damaging	Het
Tcea1	G	A	1: 4,965,167 (GRCm39)	R290H	probably damaging	Het
Tmem132e	A	T	11: 82,325,338 (GRCm39)	T113S	probably damaging	Het
Tpp1	A	T	7: 105,398,458 (GRCm39)	I286N	probably damaging	Het
Trio	G	A	15: 27,732,624 (GRCm39)	R3086*	probably null	Het
Usp22	T	A	11: 61,051,462 (GRCm39)	N294Y	probably damaging	Het
Usp44	T	A	10: 93,681,933 (GRCm39)	S128T	probably benign	Het
Zc3h7b	T	C	15: 81,653,384 (GRCm39)		probably null	Het
Zfhx2	T	C	14: 55,304,372 (GRCm39)	Y1204C	possibly 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
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'- GGGCTTCCATCTTGCTGGATAG -3'
(R):5'- AATGACAGGTGAACGGCTGC -3'

Sequencing Primer
(F):5'- TGCTGACATCATGGGTGACGAC -3'
(R):5'- TGAACGGCTGCTCAGTTC -3'

Posted On

2015-11-11