Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03386:Rps6kc1'

420879

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rps6kc1

Ensembl Gene

ENSMUSG00000089872

Gene Name

ribosomal protein S6 kinase polypeptide 1

Synonyms

RPK118

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03386

Quality Score

Status

Chromosome

Chromosomal Location

190700202-190911770 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 190799570 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 745 (L745P)

Ref Sequence

ENSEMBL: ENSMUSP00000061769 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000061611
AA Change: L745P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000061769
Gene: ENSMUSG00000089872
AA Change: L745P

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: ENSMUST00000162500

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI481877	T	C	4: 59,069,315	K704E	possibly damaging	Het
Arid2	T	C	15: 96,361,574	F236L	probably damaging	Het
AU018091	T	C	7: 3,161,267	Y274C	probably damaging	Het
BC024139	A	G	15: 76,121,745	F419L	probably benign	Het
Cd300ld	T	G	11: 114,984,172	D212A	probably benign	Het
Ces1g	T	C	8: 93,325,812	H283R	probably benign	Het
Chac2	T	A	11: 30,977,720	K66N	probably benign	Het
Emc1	T	C	4: 139,363,781		probably null	Het
Eml6	G	A	11: 29,749,934	A1734V	probably benign	Het
Erich3	G	A	3: 154,739,239	E548K	possibly damaging	Het
Gm3604	T	A	13: 62,370,167	E105D	possibly damaging	Het
Gpr158	A	G	2: 21,826,246	K719R	probably damaging	Het
Heatr6	T	C	11: 83,759,377	S220P	probably damaging	Het
Kcnip4	T	C	5: 48,482,547	Y74C	probably damaging	Het
Kmt2b	T	C	7: 30,573,971	H2380R	possibly damaging	Het
Lars2	A	T	9: 123,453,390	K680*	probably null	Het
Macc1	T	A	12: 119,445,863	M122K	probably benign	Het
Pbrm1	A	G	14: 31,050,092	D381G	probably damaging	Het
Phf11d	A	G	14: 59,361,860		probably benign	Het
Qrsl1	A	G	10: 43,876,550	Y426H	possibly damaging	Het
Riok1	T	A	13: 38,057,237	L456*	probably null	Het
Sh3tc2	A	T	18: 61,973,311	H137L	probably benign	Het
Shroom3	T	A	5: 92,948,483		probably benign	Het
Stac2	T	A	11: 98,041,140	Q103L	possibly damaging	Het
Thnsl1	G	A	2: 21,211,548	A38T	probably benign	Het
Traf3ip2	A	G	10: 39,645,708	I421V	probably benign	Het
Vmn2r14	T	C	5: 109,220,484	D214G	possibly 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
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
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

Posted On

2016-08-02