Mutagenetix > Incidental Mutation

Incidental Mutation 'R4677:Rps6ka4'

349705

Institutional Source

Beutler Lab

Gene Symbol

Rps6ka4

Ensembl Gene

ENSMUSG00000024952

Gene Name

ribosomal protein S6 kinase, polypeptide 4

Synonyms

90kDa, MSK2, 1110069D02Rik

MMRRC Submission

042014-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.880) question?

Stock #

R4677 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6806578-6818004 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 6816854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 107 (T107K)

Ref Sequence

ENSEMBL: ENSMUSP00000131581 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000025903
AA Change: T107K

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

SMART Domains

Protein: ENSMUSP00000025903
Gene: ENSMUSG00000024952
AA Change: T107K

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 damaging
Transcript: ENSMUST00000170516
AA Change: T107K

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

SMART Domains

Protein: ENSMUSP00000131581
Gene: ENSMUSG00000024952
AA Change: T107K

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

0.6775

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

100% (85/85)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	T	C	6: 92,793,587 (GRCm39)	M1T	probably null	Het
Akap3	T	C	6: 126,842,226 (GRCm39)	S282P	probably damaging	Het
Anxa10	A	G	8: 62,516,054 (GRCm39)	I206T	probably damaging	Het
Apobec3	A	G	15: 79,779,713 (GRCm39)	D52G	probably damaging	Het
Arl6	A	T	16: 59,439,228 (GRCm39)		probably null	Het
Calcoco1	T	C	15: 102,626,329 (GRCm39)	E87G	probably damaging	Het
Ccdc88b	C	A	19: 6,825,636 (GRCm39)	A1206S	probably damaging	Het
Ccpg1	A	G	9: 72,923,197 (GRCm39)		probably benign	Het
Cdon	A	G	9: 35,389,901 (GRCm39)	N852D	probably damaging	Het
Cobl	T	A	11: 12,336,665 (GRCm39)	Q41L	possibly damaging	Het
Cspg4b	A	G	13: 113,516,020 (GRCm39)	T145A	unknown	Het
Dcdc2b	T	C	4: 129,507,936 (GRCm39)	T39A	probably damaging	Het
Ddx55	A	T	5: 124,705,997 (GRCm39)	D474V	probably benign	Het
Dipk2a	A	T	9: 94,402,457 (GRCm39)	C402S	probably damaging	Het
Dnah17	A	G	11: 118,010,640 (GRCm39)	L521P	probably damaging	Het
Exoc1	A	G	5: 76,707,010 (GRCm39)	D497G	probably null	Het
Fam151a	A	G	4: 106,605,456 (GRCm39)	E606G	possibly damaging	Het
Fbxw11	T	A	11: 32,692,535 (GRCm39)	L502*	probably null	Het
Fcrl1	A	G	3: 87,297,563 (GRCm39)	S337G	possibly damaging	Het
G6pc1	C	A	11: 101,267,439 (GRCm39)	F296L	probably benign	Het
Gm17472	C	A	6: 42,957,809 (GRCm39)	T26N	probably damaging	Het
Grin2b	A	G	6: 135,751,870 (GRCm39)	V564A	probably benign	Het
H2-Ob	T	C	17: 34,461,618 (GRCm39)	I119T	probably benign	Het
Hhip	A	G	8: 80,771,726 (GRCm39)	Y195H	probably damaging	Het
Igkc	A	T	6: 70,703,662 (GRCm39)		probably benign	Het
Islr	A	T	9: 58,064,642 (GRCm39)	D288E	probably damaging	Het
Kdelr1	A	G	7: 45,523,197 (GRCm39)	S36G	probably benign	Het
Lama5	G	T	2: 179,821,159 (GRCm39)	H3134Q	possibly damaging	Het
Loricrin	A	G	3: 91,989,050 (GRCm39)	Y79H	unknown	Het
Lrp1b	A	G	2: 40,691,496 (GRCm39)	F3327S	probably damaging	Het
Lrrc41	C	T	4: 115,952,332 (GRCm39)	H637Y	probably benign	Het
Map2k6	C	T	11: 110,290,220 (GRCm39)		probably benign	Het
Mcm3ap	T	G	10: 76,306,404 (GRCm39)	F172L	probably damaging	Het
Muc19	G	A	15: 91,772,411 (GRCm39)		noncoding transcript	Het
Muc21	T	A	17: 35,930,599 (GRCm39)		probably benign	Het
Muc6	T	A	7: 141,224,212 (GRCm39)		probably benign	Het
Nek1	A	T	8: 61,481,840 (GRCm39)	I252L	probably damaging	Het
Nrg2	A	T	18: 36,154,152 (GRCm39)	H588Q	possibly damaging	Het
Nt5dc2	T	C	14: 30,860,878 (GRCm39)	V351A	possibly damaging	Het
Or1j12	A	G	2: 36,343,062 (GRCm39)	N155S	probably benign	Het
Or51b17	T	C	7: 103,542,615 (GRCm39)	E109G	probably damaging	Het
Or5m5	A	G	2: 85,814,315 (GRCm39)	T44A	possibly damaging	Het
Or8k1	A	T	2: 86,048,032 (GRCm39)	S7R	probably benign	Het
Pde3a	A	G	6: 141,411,865 (GRCm39)	N480D	probably benign	Het
Pde6c	A	G	19: 38,145,833 (GRCm39)	K374E	probably damaging	Het
Pdhx	G	A	2: 102,903,811 (GRCm39)		probably null	Het
Pi4ka	A	G	16: 17,100,237 (GRCm39)	Y1888H	probably damaging	Het
Pnpla2	T	A	7: 141,038,356 (GRCm39)	M203K	probably damaging	Het
Prrc2c	C	T	1: 162,532,748 (GRCm39)		probably benign	Het
Ptcd3	G	T	6: 71,870,498 (GRCm39)	H321N	probably benign	Het
Ptprt	A	G	2: 161,743,366 (GRCm39)		probably null	Het
Ptx4	A	G	17: 25,342,100 (GRCm39)	T192A	probably benign	Het
Qars1	A	G	9: 108,386,889 (GRCm39)		probably benign	Het
Ralgapa2	G	A	2: 146,187,387 (GRCm39)	P1372S	possibly damaging	Het
Rsf1	A	G	7: 97,329,980 (GRCm39)	T1169A	possibly damaging	Het
Ryr2	C	A	13: 11,721,553 (GRCm39)	W2626L	probably damaging	Het
Scn4a	C	T	11: 106,214,788 (GRCm39)	V1270I	probably damaging	Het
Serpinb9b	T	C	13: 33,223,806 (GRCm39)	S333P	probably damaging	Het
Sned1	A	G	1: 93,224,019 (GRCm39)		probably benign	Het
Sult1c2	C	T	17: 54,137,137 (GRCm39)	V262M	possibly damaging	Het
Tll1	A	T	8: 64,504,411 (GRCm39)	F662I	probably benign	Het
Tmem161a	A	T	8: 70,633,597 (GRCm39)		probably null	Het
Top1mt	A	C	15: 75,535,907 (GRCm39)	V465G	possibly damaging	Het
Trcg1	A	G	9: 57,153,144 (GRCm39)	K596E	possibly damaging	Het
Trim27	T	A	13: 21,365,086 (GRCm39)		probably null	Het
Trpm3	A	G	19: 22,964,752 (GRCm39)	I1406V	possibly damaging	Het
Tssc4	T	A	7: 142,624,246 (GRCm39)	S254T	probably damaging	Het
Ttc7	C	A	17: 87,678,163 (GRCm39)		probably benign	Het
Usp30	A	G	5: 114,257,705 (GRCm39)	T288A	probably damaging	Het
Usp48	C	A	4: 137,343,692 (GRCm39)	R441S	probably benign	Het
Vmn1r29	T	C	6: 58,284,285 (GRCm39)	S2P	probably benign	Het
Vmn2r65	T	A	7: 84,613,082 (GRCm39)	I46L	possibly damaging	Het
Zeb1	A	T	18: 5,766,775 (GRCm39)	I429F	probably damaging	Het
Zfp943	A	G	17: 22,212,176 (GRCm39)	R421G	probably benign	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
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
R8021:Rps6ka4	UTSW	19	6,807,777 (GRCm39)	missense	probably benign	0.01
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'- CATTAGGTTCAGGGCAGTCC -3'
(R):5'- ACAGCCTATGGGAAGGTGTTC -3'

Sequencing Primer
(F):5'- CAGCCTCCTTGAAGTACTGG -3'
(R):5'- GTTCCTGGTGCGGAAGAC -3'

Posted On

2015-10-08