Mutagenetix > Incidental Mutation

Incidental Mutation 'R8021:Rps6ka4'

617405

Institutional Source

Beutler Lab

Gene Symbol

Rps6ka4

Ensembl Gene

ENSMUSG00000024952

Gene Name

ribosomal protein S6 kinase, polypeptide 4

Synonyms

90kDa, MSK2, 1110069D02Rik

MMRRC Submission

067460-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.880) question?

Stock #

R8021 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6806578-6818004 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6807777 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 676 (D676G)

Ref Sequence

ENSEMBL: ENSMUSP00000025903 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025903] [ENSMUST00000170516]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000025903
AA Change: D676G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000025903
Gene: ENSMUSG00000024952
AA Change: D676G

Domain	Start	End	E-Value	Type
S_TKc	33	301	1.93e-98	SMART
S_TK_X	302	363	5.72e-14	SMART
low complexity region	381	395	N/A	INTRINSIC
S_TKc	411	674	1.15e-87	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170516
AA Change: D676G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000131581
Gene: ENSMUSG00000024952
AA Change: D676G

Domain	Start	End	E-Value	Type
S_TKc	33	301	1.93e-98	SMART
S_TK_X	302	363	5.72e-14	SMART
low complexity region	381	395	N/A	INTRINSIC
S_TKc	411	674	1.15e-87	SMART

Meta Mutation Damage Score

0.0596

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (74/76)

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 non-identical kinase catalytic domains and phosphorylates various substrates, including CREB1 and ATF1. The encoded protein can also phosphorylate histone H3 to regulate certain inflammatory genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
PHENOTYPE: No phenotypic information associated with mutations in this gene have been reported. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810010H24Rik	A	G	11: 106,916,753 (GRCm39)	I12V	unknown	Het
A630010A05Rik	C	T	16: 14,407,110 (GRCm39)	T13I		Het
Acsm5	A	G	7: 119,141,616 (GRCm39)	E537G	possibly damaging	Het
Adam25	C	A	8: 41,207,796 (GRCm39)	A354E	probably damaging	Het
Adamts3	T	C	5: 89,831,043 (GRCm39)	K1004E	possibly damaging	Het
Ap3d1	C	A	10: 80,550,135 (GRCm39)	V699L	probably benign	Het
Arel1	T	G	12: 84,981,732 (GRCm39)	H216P	possibly damaging	Het
Armc12	T	A	17: 28,749,879 (GRCm39)	F8I	probably benign	Het
Armh3	C	T	19: 45,945,180 (GRCm39)		probably null	Het
Ascc3	T	A	10: 50,607,744 (GRCm39)	M1416K	probably benign	Het
Catsperb	A	C	12: 101,554,322 (GRCm39)	N672T	probably benign	Het
Ccdc30	T	C	4: 119,209,876 (GRCm39)	H291R	probably benign	Het
Cd33	A	G	7: 43,178,262 (GRCm39)	V371A	unknown	Het
Cpt1b	A	T	15: 89,305,629 (GRCm39)	M362K	probably benign	Het
Dusp5	T	A	19: 53,517,929 (GRCm39)	S61T	probably benign	Het
Eogt	T	G	6: 97,111,291 (GRCm39)	D190A	probably damaging	Het
Fat3	T	A	9: 15,910,405 (GRCm39)	I1866F	probably damaging	Het
Fer1l4	T	A	2: 155,864,511 (GRCm39)	I1668F	probably damaging	Het
Foxn3	A	T	12: 99,355,161 (GRCm39)	M1K	probably null	Het
Frs3	T	A	17: 48,014,039 (GRCm39)	V244E	probably damaging	Het
Grik1	C	T	16: 87,711,110 (GRCm39)	V832I		Het
Gtf2ird2	T	A	5: 134,232,175 (GRCm39)	V242E	probably benign	Het
Gtpbp2	C	T	17: 46,475,195 (GRCm39)	R97C	possibly damaging	Het
Habp2	T	A	19: 56,302,485 (GRCm39)	V263E	probably benign	Het
Iars2	T	A	1: 185,054,654 (GRCm39)	I337L	probably benign	Het
Ifi204	T	C	1: 173,586,919 (GRCm39)		probably benign	Het
Itih2	T	C	2: 10,110,463 (GRCm39)	T543A	probably benign	Het
Kdm2b	A	G	5: 123,070,982 (GRCm39)	S372P	probably damaging	Het
Kit	T	A	5: 75,776,151 (GRCm39)	V311E	possibly damaging	Het
Kmt2c	C	G	5: 25,492,117 (GRCm39)	V4230L	possibly damaging	Het
Lao1	T	C	4: 118,825,674 (GRCm39)	I498T	probably damaging	Het
Lrp1	G	T	10: 127,384,215 (GRCm39)	D3641E	possibly damaging	Het
Mapk8ip1	A	T	2: 92,216,760 (GRCm39)	S477T	possibly damaging	Het
Mast3	C	T	8: 71,240,896 (GRCm39)	G218S	probably benign	Het
Mical1	T	C	10: 41,358,720 (GRCm39)	V546A	probably damaging	Het
Nck2	T	C	1: 43,593,420 (GRCm39)	V209A	probably benign	Het
Ndufs4	A	G	13: 114,444,351 (GRCm39)		probably null	Het
Nek3	C	T	8: 22,647,206 (GRCm39)	V139M	probably damaging	Het
Or10v5	T	C	19: 11,806,256 (GRCm39)	I45V	probably benign	Het
Or5ak24	A	T	2: 85,260,996 (GRCm39)	M59K	probably damaging	Het
Or7e171-ps1	A	C	9: 19,853,375 (GRCm39)	Y120*	probably null	Het
Or8b9	T	A	9: 37,766,592 (GRCm39)	H159Q	probably damaging	Het
Otog	A	T	7: 45,916,766 (GRCm39)	N901I	probably damaging	Het
Pclo	A	C	5: 14,589,798 (GRCm39)	Q699H	unknown	Het
Pcnx1	C	T	12: 81,965,593 (GRCm39)	R59*	probably null	Het
Pde12	A	T	14: 26,386,854 (GRCm39)	Y551*	probably null	Het
Pigg	A	G	5: 108,467,805 (GRCm39)	D268G	probably damaging	Het
Ppp1r21	A	G	17: 88,856,935 (GRCm39)	D130G	probably benign	Het
Psip1	T	C	4: 83,378,192 (GRCm39)	T435A	possibly damaging	Het
Rad54l2	T	C	9: 106,596,840 (GRCm39)	S189G	probably benign	Het
Rgs14	T	C	13: 55,531,569 (GRCm39)	C498R	probably damaging	Het
Ripply3	C	A	16: 94,129,369 (GRCm39)	A5E	probably benign	Het
Rsbn1	T	C	3: 103,835,898 (GRCm39)	L312S	possibly damaging	Het
Secisbp2	T	A	13: 51,819,664 (GRCm39)	*415R	probably null	Het
Sephs1	T	A	2: 4,911,434 (GRCm39)	F336Y	probably benign	Het
Setdb2	A	T	14: 59,660,833 (GRCm39)	Y103*	probably null	Het
Slit2	T	A	5: 48,459,834 (GRCm39)	C1371*	probably null	Het
Spata31e4	A	G	13: 50,855,130 (GRCm39)	N256S	possibly damaging	Het
Stab2	C	T	10: 86,741,403 (GRCm39)	A1239T	possibly damaging	Het
Taf4b	T	A	18: 14,937,581 (GRCm39)	V218E	probably damaging	Het
Tars2	T	C	3: 95,654,826 (GRCm39)	N393S	probably benign	Het
Tbc1d30	A	G	10: 121,103,448 (GRCm39)	M528T	probably benign	Het
Tchp	A	G	5: 114,856,478 (GRCm39)	E363G	probably damaging	Het
Tec	T	A	5: 72,914,812 (GRCm39)	N568I	probably benign	Het
Ticam1	A	G	17: 56,577,089 (GRCm39)	S669P	unknown	Het
Tnk1	A	G	11: 69,745,810 (GRCm39)	S372P	probably benign	Het
Tnpo2	G	A	8: 85,781,835 (GRCm39)	A847T	probably damaging	Het
Tsc1	A	T	2: 28,576,901 (GRCm39)	I1068F	possibly damaging	Het
Ttc14	T	A	3: 33,863,270 (GRCm39)	Y559*	probably null	Het
Ttc41	C	A	10: 86,569,578 (GRCm39)	T652N	probably benign	Het
Tut1	T	A	19: 8,932,873 (GRCm39)	S69T	probably benign	Het
Uck1	T	C	2: 32,149,929 (GRCm39)	S40G	probably benign	Het
Vmn2r76	G	A	7: 85,874,958 (GRCm39)	T673I	probably damaging	Het
Vps13d	G	T	4: 144,875,245 (GRCm39)	P1760H		Het
Zbp1	T	C	2: 173,051,003 (GRCm39)	N289S	possibly damaging	Het
Zc3hav1l	C	A	6: 38,274,882 (GRCm39)		probably benign	Het
Zzef1	A	T	11: 72,714,242 (GRCm39)	D244V	probably damaging	Het

Other mutations in Rps6ka4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01146:Rps6ka4	APN	19	6,808,496 (GRCm39)	missense	probably damaging	1.00
IGL01548:Rps6ka4	APN	19	6,809,691 (GRCm39)	missense	probably benign	0.02
IGL02536:Rps6ka4	APN	19	6,809,439 (GRCm39)	missense	probably damaging	1.00
IGL02902:Rps6ka4	APN	19	6,809,623 (GRCm39)	critical splice donor site	probably null
IGL03299:Rps6ka4	APN	19	6,809,615 (GRCm39)	splice site	probably benign
R0510:Rps6ka4	UTSW	19	6,817,866 (GRCm39)	missense	probably benign	0.13
R1104:Rps6ka4	UTSW	19	6,808,364 (GRCm39)	missense	probably damaging	1.00
R1620:Rps6ka4	UTSW	19	6,815,517 (GRCm39)	missense	probably damaging	1.00
R1647:Rps6ka4	UTSW	19	6,816,730 (GRCm39)	missense	probably benign	0.15
R1648:Rps6ka4	UTSW	19	6,816,730 (GRCm39)	missense	probably benign	0.15
R1939:Rps6ka4	UTSW	19	6,816,834 (GRCm39)	missense	probably damaging	1.00
R2370:Rps6ka4	UTSW	19	6,807,468 (GRCm39)	missense	possibly damaging	0.93
R2412:Rps6ka4	UTSW	19	6,807,309 (GRCm39)	makesense	probably null
R2571:Rps6ka4	UTSW	19	6,815,471 (GRCm39)	missense	probably damaging	1.00
R2698:Rps6ka4	UTSW	19	6,814,720 (GRCm39)	missense	probably benign	0.08
R3427:Rps6ka4	UTSW	19	6,815,123 (GRCm39)	critical splice donor site	probably null
R3721:Rps6ka4	UTSW	19	6,816,645 (GRCm39)	missense	possibly damaging	0.73
R3844:Rps6ka4	UTSW	19	6,815,171 (GRCm39)	nonsense	probably null
R4092:Rps6ka4	UTSW	19	6,809,623 (GRCm39)	critical splice donor site	probably null
R4169:Rps6ka4	UTSW	19	6,809,188 (GRCm39)	missense	possibly damaging	0.92
R4677:Rps6ka4	UTSW	19	6,816,854 (GRCm39)	missense	probably damaging	1.00
R4897:Rps6ka4	UTSW	19	6,815,467 (GRCm39)	missense	probably benign	0.02
R4975:Rps6ka4	UTSW	19	6,817,678 (GRCm39)	splice site	probably null
R5631:Rps6ka4	UTSW	19	6,808,345 (GRCm39)	splice site	probably benign
R6462:Rps6ka4	UTSW	19	6,814,957 (GRCm39)	missense	possibly damaging	0.90
R6643:Rps6ka4	UTSW	19	6,809,731 (GRCm39)	missense	probably damaging	1.00
R6939:Rps6ka4	UTSW	19	6,815,437 (GRCm39)	missense	probably damaging	1.00
R7030:Rps6ka4	UTSW	19	6,816,992 (GRCm39)	missense	probably damaging	1.00
R7902:Rps6ka4	UTSW	19	6,808,679 (GRCm39)	missense	possibly damaging	0.81
R8166:Rps6ka4	UTSW	19	6,814,811 (GRCm39)	missense	possibly damaging	0.78
R8988:Rps6ka4	UTSW	19	6,808,667 (GRCm39)	missense	possibly damaging	0.58
R9481:Rps6ka4	UTSW	19	6,809,372 (GRCm39)	missense	possibly damaging	0.62
R9664:Rps6ka4	UTSW	19	6,809,354 (GRCm39)	missense	possibly damaging	0.95
R9723:Rps6ka4	UTSW	19	6,816,663 (GRCm39)	missense	probably damaging	0.99
U24488:Rps6ka4	UTSW	19	6,809,724 (GRCm39)	missense	probably damaging	1.00
X0019:Rps6ka4	UTSW	19	6,815,508 (GRCm39)	missense	probably damaging	0.97
X0027:Rps6ka4	UTSW	19	6,815,140 (GRCm39)	missense	probably benign	0.37

Predicted Primers

PCR Primer
(F):5'- GGAGAGAATGAATGTCCCCAC -3'
(R):5'- TGTGCAAGATCCGTGAAGGG -3'

Sequencing Primer
(F):5'- TGCAGTGCCCAGATCGACAAG -3'
(R):5'- AAGCCTGGCAAGGTGTGTC -3'

Posted On

2020-01-23