Mutagenetix > Incidental Mutations

Incidental Mutation 'R4231:Rps6kc1'

320819

Institutional Source

Beutler Lab

Gene Symbol

Rps6kc1

Ensembl Gene

ENSMUSG00000089872

Gene Name

ribosomal protein S6 kinase polypeptide 1

Synonyms

RPK118

MMRRC Submission

041050-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4231 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

190700202-190911770 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 190808900 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 402 (V402A)

Ref Sequence

ENSEMBL: ENSMUSP00000061769 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061611] [ENSMUST00000159367] [ENSMUST00000159624]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000061611
AA Change: V402A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000061769
Gene: ENSMUSG00000089872
AA Change: V402A

Domain	Start	End	E-Value	Type
PX	9	128	1.26e-13	SMART
low complexity region	160	175	N/A	INTRINSIC
low complexity region	198	211	N/A	INTRINSIC
MIT	235	313	1.12e-20	SMART
low complexity region	317	332	N/A	INTRINSIC
SCOP:d1apme_	347	417	2e-5	SMART
low complexity region	443	454	N/A	INTRINSIC
low complexity region	576	587	N/A	INTRINSIC
low complexity region	669	681	N/A	INTRINSIC
Pfam:Pkinase	863	1046	4.4e-26	PFAM
Pfam:Pkinase_Tyr	876	1032	5.5e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159367

SMART Domains

Protein: ENSMUSP00000124383
Gene: ENSMUSG00000089872

Domain	Start	End	E-Value	Type
Blast:PX	9	50	4e-22	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000159624

SMART Domains

Protein: ENSMUSP00000125010
Gene: ENSMUSG00000089872

Domain	Start	End	E-Value	Type
PX	9	128	1.26e-13	SMART
low complexity region	160	175	N/A	INTRINSIC
low complexity region	198	211	N/A	INTRINSIC
Pfam:MIT	238	299	6.9e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159823

Predicted Effect

probably benign
Transcript: ENSMUST00000160889

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160891

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162500

Meta Mutation Damage Score

0.1868

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

99% (75/76)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	C	T	X: 70,394,529	A53T	probably benign	Het
4932438A13Rik	C	T	3: 36,920,236	T663I	probably benign	Het
Ajuba	T	C	14: 54,569,526	R490G	probably damaging	Het
Akap6	A	T	12: 53,141,038	D1745V	probably damaging	Het
Aldh5a1	C	T	13: 24,911,653	G494R	probably damaging	Het
Ankar	T	C	1: 72,658,542	D1034G	probably benign	Het
Aox3	T	A	1: 58,114,885	N23K	probably benign	Het
Arhgef18	T	C	8: 3,450,317	I541T	possibly damaging	Het
Atg14	T	C	14: 47,551,345	K184E	probably benign	Het
Cacnb2	A	G	2: 14,981,440	K343E	probably damaging	Het
Casp8	T	C	1: 58,844,770	V432A	probably damaging	Het
Cd93	A	T	2: 148,442,960	H155Q	probably benign	Het
Cox6b2	T	C	7: 4,752,835	M1V	probably null	Het
Crat	T	C	2: 30,413,011	E88G	possibly damaging	Het
Ddx1	C	T	12: 13,223,857	V590I	possibly damaging	Het
Dip2a	G	A	10: 76,319,470	P94S	probably damaging	Het
Dtx3	A	G	10: 127,193,189	I60T	possibly damaging	Het
Fam196b	A	T	11: 34,403,143	E395V	probably benign	Het
Filip1l	T	C	16: 57,506,768	S54P	probably benign	Het
Gm12887	A	T	4: 121,622,102	M1K	probably null	Het
Gm26678	T	C	3: 54,633,083		noncoding transcript	Het
Impg1	A	G	9: 80,345,329	L523P	probably damaging	Het
Ip6k2	G	A	9: 108,805,648	R319Q	probably benign	Het
Irak2	A	G	6: 113,690,856	E466G	probably damaging	Het
Irgm2	C	T	11: 58,219,478		probably benign	Het
Jak3	T	A	8: 71,685,545	V880D	probably damaging	Het
Jmy	G	T	13: 93,498,925	P128T	probably benign	Het
Kif20a	A	G	18: 34,632,038	N775S	probably benign	Het
Kremen1	G	A	11: 5,243,881	Q50*	probably null	Het
Lrrc71	A	G	3: 87,740,991	I438T	probably benign	Het
Map3k1	T	C	13: 111,768,494	T374A	probably benign	Het
Med12l	T	G	3: 59,257,223		probably null	Het
Mrps30	T	C	13: 118,386,840	D132G	probably damaging	Het
Mta1	T	C	12: 113,135,827	M603T	possibly damaging	Het
Myo5a	A	G	9: 75,189,997	N1319S	possibly damaging	Het
Nalcn	T	A	14: 123,599,913	Q13L	probably benign	Het
Nbas	A	G	12: 13,393,343	N1133S	probably damaging	Het
Nsun2	A	G	13: 69,619,541	N205D	probably damaging	Het
Nxpe4	A	T	9: 48,398,837	T467S	probably damaging	Het
Olfr1293-ps	C	T	2: 111,528,201	R314C	probably damaging	Het
Olfr53	T	C	7: 140,652,740	Y254H	probably damaging	Het
Olfr849	T	A	9: 19,441,590	L226I	probably damaging	Het
Pam	A	G	1: 97,884,124		probably null	Het
Pcdh7	G	A	5: 57,719,289	G62D	possibly damaging	Het
Plxna2	C	T	1: 194,644,454	T232I	probably damaging	Het
Prkar1b	A	G	5: 139,108,621	S71P	probably benign	Het
Ptprq	A	T	10: 107,686,283	Y602*	probably null	Het
Rfx4	A	T	10: 84,814,694	M84L	probably benign	Het
Rfx7	A	T	9: 72,619,390	E1287D	possibly damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Rnf216	A	T	5: 143,093,090	S35T	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Sart3	A	G	5: 113,771,418	M73T	probably benign	Het
Scn10a	G	T	9: 119,631,544	T1088K	probably damaging	Het
Senp2	T	C	16: 22,011,554		probably null	Het
Setd7	T	C	3: 51,542,730	N92D	probably benign	Het
Sipa1	A	T	19: 5,654,089	L735Q	probably damaging	Het
Skint11	C	A	4: 114,244,659	Q99K	probably benign	Het
Slitrk6	A	T	14: 110,751,388	S296T	probably benign	Het
Spc24	T	C	9: 21,756,202		probably null	Het
Tex15	T	C	8: 33,572,137	S806P	probably damaging	Het
Tgm3	A	T	2: 130,044,589	K577*	probably null	Het
Wscd2	A	G	5: 113,560,984	D200G	probably benign	Het
Xpo6	T	C	7: 126,174,182	T24A	possibly damaging	Het
Zfhx2	A	G	14: 55,073,534	C568R	possibly damaging	Het
Zfp599	T	A	9: 22,249,745	K375*	probably null	Het

Other mutations in Rps6kc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01296:Rps6kc1	APN	1	190773678	missense	probably damaging	1.00
IGL01310:Rps6kc1	APN	1	190783625	missense	probably benign	0.45
IGL01331:Rps6kc1	APN	1	190800352	missense	possibly damaging	0.49
IGL01551:Rps6kc1	APN	1	190773640	missense	possibly damaging	0.70
IGL01665:Rps6kc1	APN	1	190911657	missense	possibly damaging	0.66
IGL02178:Rps6kc1	APN	1	190871836	missense	possibly damaging	0.63
IGL02550:Rps6kc1	APN	1	190871862	missense	probably damaging	1.00
IGL02986:Rps6kc1	APN	1	190834061	missense	probably damaging	1.00
IGL03010:Rps6kc1	APN	1	190911606	nonsense	probably null
IGL03087:Rps6kc1	APN	1	190871711	missense	probably damaging	1.00
IGL03130:Rps6kc1	APN	1	190799811	missense	probably damaging	1.00
IGL03264:Rps6kc1	APN	1	190871829	missense	probably benign
IGL03386:Rps6kc1	APN	1	190799570	missense	probably damaging	0.97
R0184:Rps6kc1	UTSW	1	190799093	missense	probably null	1.00
R0280:Rps6kc1	UTSW	1	190809000	missense	probably damaging	1.00
R0482:Rps6kc1	UTSW	1	190799430	missense	probably benign	0.00
R0651:Rps6kc1	UTSW	1	190799496	missense	possibly damaging	0.51
R0785:Rps6kc1	UTSW	1	190808945	missense	probably damaging	1.00
R1398:Rps6kc1	UTSW	1	190800015	missense	probably damaging	0.99
R1428:Rps6kc1	UTSW	1	190798726	missense	probably damaging	1.00
R1484:Rps6kc1	UTSW	1	190799475	missense	possibly damaging	0.63
R1536:Rps6kc1	UTSW	1	190871768	missense	possibly damaging	0.89
R1709:Rps6kc1	UTSW	1	190800336	missense	possibly damaging	0.72
R2060:Rps6kc1	UTSW	1	190810108	missense	possibly damaging	0.94
R2153:Rps6kc1	UTSW	1	190798723	missense	probably damaging	1.00
R2871:Rps6kc1	UTSW	1	190899569	missense	probably damaging	1.00
R2871:Rps6kc1	UTSW	1	190899569	missense	probably damaging	1.00
R4177:Rps6kc1	UTSW	1	190800419	missense	possibly damaging	0.92
R4401:Rps6kc1	UTSW	1	190799958	missense	probably benign	0.32
R4402:Rps6kc1	UTSW	1	190798605	intron	probably benign
R4785:Rps6kc1	UTSW	1	190750188	missense	probably benign	0.00
R4810:Rps6kc1	UTSW	1	190808963	missense	probably damaging	1.00
R4858:Rps6kc1	UTSW	1	190800318	missense	probably damaging	1.00
R4887:Rps6kc1	UTSW	1	190798694	missense	probably benign	0.13
R4976:Rps6kc1	UTSW	1	190798727	missense	probably damaging	0.99
R5134:Rps6kc1	UTSW	1	190773648	missense	probably damaging	1.00
R5217:Rps6kc1	UTSW	1	190783605	missense	probably damaging	1.00
R5350:Rps6kc1	UTSW	1	190799466	missense	probably benign
R5952:Rps6kc1	UTSW	1	190885420	missense	probably benign	0.05
R5979:Rps6kc1	UTSW	1	190800435	missense	probably damaging	1.00
R6597:Rps6kc1	UTSW	1	190750184	missense	probably benign	0.20
R7024:Rps6kc1	UTSW	1	190800210	missense	probably benign	0.00
R7192:Rps6kc1	UTSW	1	190800359	missense	probably damaging	0.98
R7423:Rps6kc1	UTSW	1	190799096	missense	probably damaging	1.00
R7493:Rps6kc1	UTSW	1	190800057	missense	probably benign	0.26
R7718:Rps6kc1	UTSW	1	190871825	missense	probably benign	0.13
R7783:Rps6kc1	UTSW	1	190773654	missense	probably benign	0.39
R7794:Rps6kc1	UTSW	1	190783628	missense	probably benign	0.05
R7972:Rps6kc1	UTSW	1	190799124	missense	probably benign	0.14
R9236:Rps6kc1	UTSW	1	190800003	missense	probably damaging	1.00
R9370:Rps6kc1	UTSW	1	190799025	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGGTCAGTGAGTGATGCTG -3'
(R):5'- GATGAGTGGTTTCTCGAGCC -3'

Sequencing Primer
(F):5'- AGTGAGTGATGCTGGCCCATC -3'
(R):5'- TTGGTTGATAAACACTGAGCACAGC -3'

Posted On

2015-06-12