Mutagenetix > Incidental Mutations

Incidental Mutation 'R6597:Rps6kc1'

524909

Institutional Source

Beutler Lab

Gene Symbol

Rps6kc1

Ensembl Gene

ENSMUSG00000089872

Gene Name

ribosomal protein S6 kinase polypeptide 1

Synonyms

RPK118

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6597 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

190700202-190911770 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 190750184 bp

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 286 (W286R)

Ref Sequence

ENSEMBL: ENSMUSP00000125010 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000159624
AA Change: W286R

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000125010
Gene: ENSMUSG00000089872
AA Change: W286R

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730559C18Rik	G	T	1: 136,226,189	A87E	probably damaging	Het
A2m	A	G	6: 121,648,121	Y486C	probably damaging	Het
Asb17	A	T	3: 153,844,684	T118S	probably damaging	Het
Atl2	T	A	17: 79,852,766	D293V	possibly damaging	Het
Bbs1	T	A	19: 4,899,306	M242L	probably benign	Het
Btg1	T	A	10: 96,618,320	S65T	probably damaging	Het
Cfap54	T	C	10: 92,999,040	D1101G	possibly damaging	Het
Cmpk2	G	T	12: 26,474,145	V314L	possibly damaging	Het
Fbxl8	A	C	8: 105,268,891	D345A	probably benign	Het
Gys2	T	A	6: 142,456,309	H268L	probably benign	Het
Hecw1	T	A	13: 14,316,818	R117*	probably null	Het
Hoxd10	G	A	2: 74,692,640	A221T	probably benign	Het
Hspa13	A	T	16: 75,765,197	L38Q	probably damaging	Het
Ipo11	A	G	13: 106,865,863		probably null	Het
Itgb8	A	G	12: 119,173,398	V390A	possibly damaging	Het
Kalrn	T	A	16: 34,182,747	I1370F	probably damaging	Het
Macf1	T	C	4: 123,382,692	N6086S	probably damaging	Het
Ms4a13	T	C	19: 11,192,939	T14A	probably benign	Het
Olfr1164	A	G	2: 88,093,069	F289S	probably damaging	Het
Olfr1500	T	A	19: 13,828,457		probably benign	Het
Olfr204	C	T	16: 59,315,350	R19H	probably benign	Het
Olfr545	A	T	7: 102,494,421	I118N	probably damaging	Het
Olfr742	T	A	14: 50,515,551	C116S	probably benign	Het
Olfr911-ps1	A	T	9: 38,524,004	I91F	probably benign	Het
Patl2	T	A	2: 122,186,164		probably benign	Het
Pcdhga7	T	C	18: 37,717,006	S689P	probably benign	Het
Pitpnc1	G	T	11: 107,226,232	Y227*	probably null	Het
Pla2g2e	T	C	4: 138,880,673	V22A	unknown	Het
Ppil1	C	A	17: 29,261,878	V24F	probably benign	Het
Prl3b1	G	A	13: 27,247,974		probably null	Het
Rabgef1	G	A	5: 130,191,044		probably null	Het
Rhot2	A	T	17: 25,840,912	W341R	probably damaging	Het
Rrs1	A	G	1: 9,546,376	T285A	probably damaging	Het
Shc3	T	A	13: 51,442,973	D338V	possibly damaging	Het
Siglech	A	T	7: 55,768,463	M60L	probably benign	Het
Slc12a6	G	T	2: 112,352,935	V756F	probably damaging	Het
Slc43a2	G	A	11: 75,571,855	G507D	probably damaging	Het
Slf1	A	G	13: 77,049,129	S789P	probably benign	Het
Spata31d1d	C	A	13: 59,726,057	M1221I	probably benign	Het
Srgap1	T	C	10: 121,792,371	N899D	probably benign	Het
Stag1	G	A	9: 100,887,420	M529I	probably benign	Het
Tekt3	A	G	11: 63,081,259	D247G	probably benign	Het
Tmppe	A	T	9: 114,405,244	M204L	probably benign	Het
Tpsg1	G	A	17: 25,369,297		probably benign	Het
Ttn	A	G	2: 76,797,971	V6288A	probably benign	Het
Ttn	A	T	2: 76,893,100		probably benign	Het
Twsg1	C	A	17: 65,937,804	V73F	probably damaging	Het
Vmn2r102	A	G	17: 19,694,188	T672A	probably damaging	Het
Vps36	A	G	8: 22,202,304	I66V	probably benign	Het
Xrcc4	A	T	13: 90,000,929	D157E	probably benign	Het
Zbbx	T	A	3: 75,136,454	Q162L	probably damaging	Het
Zfp560	T	A	9: 20,348,001	I522L	probably benign	Het
Zscan20	T	C	4: 128,585,746	N984S	probably damaging	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
R4231:Rps6kc1	UTSW	1	190808900	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GGGTTGCCAGTGAATCTGAGA -3'
(R):5'- CCTGATGGTGGGGAGTGTCC -3'

Sequencing Primer
(F):5'- TTGCCAGTGAATCTGAGATAGAGAC -3'
(R):5'- ATGGTGGGGAGTGTCCTGATG -3'

Posted On

2018-06-22