Mutagenetix > Incidental Mutation

Incidental Mutation 'R4858:Rps6kc1'

372201

Institutional Source

Beutler Lab

Gene Symbol

Rps6kc1

Ensembl Gene

ENSMUSG00000089872

Gene Name

ribosomal protein S6 kinase polypeptide 1

Synonyms

B130003F20Rik, RPK118

MMRRC Submission

042469-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4858 (G1)

Quality Score

208

Status

Validated

Chromosome

Chromosomal Location

190505076-190645207 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 190532515 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 496 (W496R)

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: W496R

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

SMART Domains

Protein: ENSMUSP00000061769
Gene: ENSMUSG00000089872
AA Change: W496R

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

Meta Mutation Damage Score

0.0805

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.5%

Validation Efficiency

94% (103/109)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	C	10: 10,225,321 (GRCm39)	Y1415C	probably damaging	Het
Adgrf1	T	C	17: 43,614,563 (GRCm39)	S216P	probably damaging	Het
Ankrd12	T	C	17: 66,338,428 (GRCm39)	D197G	probably damaging	Het
Aoc3	C	A	11: 101,222,488 (GRCm39)	H198Q	probably damaging	Het
Aox1	C	A	1: 58,143,640 (GRCm39)	H1253N	probably benign	Het
Arg1	T	A	10: 24,798,536 (GRCm39)	E38V	possibly damaging	Het
Baz2b	T	A	2: 59,738,087 (GRCm39)	M1741L	probably benign	Het
Bend4	T	C	5: 67,574,915 (GRCm39)	E322G	probably damaging	Het
Brpf1	T	C	6: 113,294,639 (GRCm39)	V661A	possibly damaging	Het
C2cd3	A	T	7: 100,104,160 (GRCm39)	T2058S	probably damaging	Het
Camk4	T	C	18: 33,309,266 (GRCm39)	V223A	probably damaging	Het
Casp1	C	T	9: 5,306,742 (GRCm39)	R395C	probably damaging	Het
Ccdc180	T	G	4: 45,923,244 (GRCm39)	I1066S	probably damaging	Het
Ccne1	A	G	7: 37,798,744 (GRCm39)	F292L	probably damaging	Het
Ccz1	A	T	5: 143,949,628 (GRCm39)	M100K	probably damaging	Het
Cep128	T	C	12: 91,226,936 (GRCm39)	T678A	probably benign	Het
Cep290	G	A	10: 100,330,773 (GRCm39)	R151Q	probably benign	Het
Crip3	A	G	17: 46,741,673 (GRCm39)		probably benign	Het
Ddx60	A	G	8: 62,474,348 (GRCm39)	M1479V	possibly damaging	Het
Defb40	T	A	8: 19,025,093 (GRCm39)	I38F	probably benign	Het
Dnajb2	C	T	1: 75,220,198 (GRCm39)	T221I	possibly damaging	Het
Dpysl3	T	C	18: 43,467,079 (GRCm39)	I279V	probably damaging	Het
Echs1	G	A	7: 139,692,499 (GRCm39)		probably benign	Het
Efl1	T	A	7: 82,320,835 (GRCm39)	N89K	probably damaging	Het
Extl3	T	C	14: 65,313,443 (GRCm39)	T580A	probably benign	Het
Fam171a2	C	T	11: 102,330,982 (GRCm39)	G193E	probably damaging	Het
Fam234a	A	T	17: 26,435,591 (GRCm39)	D264E	probably benign	Het
Fbxw20	A	T	9: 109,063,763 (GRCm39)	V3D	possibly damaging	Het
Fig4	G	A	10: 41,109,586 (GRCm39)	P637L	probably benign	Het
Fnbp1l	G	A	3: 122,339,964 (GRCm39)	T496I	probably benign	Het
Fry	T	C	5: 150,325,108 (GRCm39)	V1175A	possibly damaging	Het
Gm5617	C	T	9: 48,406,968 (GRCm39)	A34V	possibly damaging	Het
Gnai1	A	T	5: 18,496,596 (GRCm39)	V109E	probably benign	Het
H2-K2	A	T	17: 34,216,298 (GRCm39)	Y283N	probably benign	Het
Hectd2	A	T	19: 36,582,682 (GRCm39)	I471F	probably damaging	Het
Hsdl2	T	C	4: 59,612,812 (GRCm39)		probably null	Het
Igkv3-1	T	C	6: 70,681,028 (GRCm39)	S76P	probably damaging	Het
Krt15	A	T	11: 100,022,897 (GRCm39)	S439R	probably benign	Het
Lama2	TTTGCGCATT	TTT	10: 26,919,639 (GRCm39)		probably null	Het
Lima1	G	A	15: 99,717,457 (GRCm39)	T23I	probably benign	Het
Map4k1	C	A	7: 28,688,195 (GRCm39)	H248Q	probably damaging	Het
Mcf2l	C	A	8: 13,063,972 (GRCm39)	T1004K	probably damaging	Het
Meak7	T	G	8: 120,499,262 (GRCm39)	T77P	probably benign	Het
Micall1	T	A	15: 79,007,146 (GRCm39)		probably benign	Het
Ms4a14	A	G	19: 11,278,976 (GRCm39)	I1194T	probably benign	Het
Mtor	T	C	4: 148,539,273 (GRCm39)	*257Q	probably null	Het
Mucl3	G	A	17: 35,948,468 (GRCm39)	T377I	possibly damaging	Het
Ncan	T	A	8: 70,556,705 (GRCm39)	T961S	probably benign	Het
Odad4	A	G	11: 100,441,147 (GRCm39)	N126S	probably damaging	Het
Or10z1	A	T	1: 174,078,262 (GRCm39)	I77N	probably damaging	Het
Or1e29	T	A	11: 73,667,372 (GRCm39)	L260F	probably benign	Het
Or1f19	T	C	16: 3,410,706 (GRCm39)	S149P	probably damaging	Het
Or2t49	T	A	11: 58,392,735 (GRCm39)	I216F	probably damaging	Het
Or8h10	T	G	2: 86,808,693 (GRCm39)	Y149S	probably damaging	Het
Or9e1	T	A	11: 58,732,033 (GRCm39)	L31H	possibly damaging	Het
Pcdhgb2	A	G	18: 37,825,153 (GRCm39)	R715G	probably benign	Het
Pik3c3	T	C	18: 30,477,131 (GRCm39)		probably null	Het
Pkhd1l1	A	T	15: 44,354,497 (GRCm39)	D296V	probably damaging	Het
Plekhh2	A	G	17: 84,908,125 (GRCm39)	I1189V	probably damaging	Het
Psg18	A	T	7: 18,087,409 (GRCm39)	L83Q	possibly damaging	Het
Setd5	C	T	6: 113,126,527 (GRCm39)	T1188I	probably damaging	Het
Slc4a3	T	C	1: 75,531,729 (GRCm39)	F899L	probably damaging	Het
Slitrk6	T	C	14: 110,989,315 (GRCm39)	T131A	probably damaging	Het
Speg	G	T	1: 75,398,379 (GRCm39)	R1942L	probably damaging	Het
Sulf2	C	A	2: 165,923,524 (GRCm39)	R565L	probably benign	Het
Tcerg1	T	C	18: 42,657,046 (GRCm39)	M176T	unknown	Het
Tfcp2l1	T	C	1: 118,597,239 (GRCm39)	I440T	possibly damaging	Het
Tgm7	A	T	2: 120,929,445 (GRCm39)		probably null	Het
Tjp2	C	A	19: 24,099,484 (GRCm39)	G433V	probably damaging	Het
Tmc7	C	T	7: 118,142,565 (GRCm39)	G608R	probably damaging	Het
Tmed4	A	G	11: 6,224,456 (GRCm39)	F68S	possibly damaging	Het
Tmem30b	G	A	12: 73,592,686 (GRCm39)	P143L	probably damaging	Het
Tnfrsf23	C	T	7: 143,235,217 (GRCm39)	C49Y	probably damaging	Het
Tnni3k	A	T	3: 154,492,445 (GRCm39)		probably null	Het
Trav12-2	G	T	14: 53,854,150 (GRCm39)	M41I	probably benign	Het
Trim6	T	A	7: 103,881,692 (GRCm39)	Y314*	probably null	Het
Utp25	A	G	1: 192,796,072 (GRCm39)	Y686H	probably damaging	Het
Vmn2r118	A	G	17: 55,899,894 (GRCm39)	V670A	probably damaging	Het
Zfp438	A	T	18: 5,213,154 (GRCm39)	D601E	probably benign	Het
Zfp606	T	A	7: 12,226,983 (GRCm39)	I310N	possibly damaging	Het

Other mutations in Rps6kc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01296:Rps6kc1	APN	1	190,505,875 (GRCm39)	missense	probably damaging	1.00
IGL01310:Rps6kc1	APN	1	190,515,822 (GRCm39)	missense	probably benign	0.45
IGL01331:Rps6kc1	APN	1	190,532,549 (GRCm39)	missense	possibly damaging	0.49
IGL01551:Rps6kc1	APN	1	190,505,837 (GRCm39)	missense	possibly damaging	0.70
IGL01665:Rps6kc1	APN	1	190,643,854 (GRCm39)	missense	possibly damaging	0.66
IGL02178:Rps6kc1	APN	1	190,604,033 (GRCm39)	missense	possibly damaging	0.63
IGL02550:Rps6kc1	APN	1	190,604,059 (GRCm39)	missense	probably damaging	1.00
IGL02986:Rps6kc1	APN	1	190,566,258 (GRCm39)	missense	probably damaging	1.00
IGL03010:Rps6kc1	APN	1	190,643,803 (GRCm39)	nonsense	probably null
IGL03087:Rps6kc1	APN	1	190,603,908 (GRCm39)	missense	probably damaging	1.00
IGL03130:Rps6kc1	APN	1	190,532,008 (GRCm39)	missense	probably damaging	1.00
IGL03264:Rps6kc1	APN	1	190,604,026 (GRCm39)	missense	probably benign
IGL03386:Rps6kc1	APN	1	190,531,767 (GRCm39)	missense	probably damaging	0.97
R0184:Rps6kc1	UTSW	1	190,531,290 (GRCm39)	missense	probably null	1.00
R0280:Rps6kc1	UTSW	1	190,541,197 (GRCm39)	missense	probably damaging	1.00
R0482:Rps6kc1	UTSW	1	190,531,627 (GRCm39)	missense	probably benign	0.00
R0651:Rps6kc1	UTSW	1	190,531,693 (GRCm39)	missense	possibly damaging	0.51
R0785:Rps6kc1	UTSW	1	190,541,142 (GRCm39)	missense	probably damaging	1.00
R1398:Rps6kc1	UTSW	1	190,532,212 (GRCm39)	missense	probably damaging	0.99
R1428:Rps6kc1	UTSW	1	190,530,923 (GRCm39)	missense	probably damaging	1.00
R1484:Rps6kc1	UTSW	1	190,531,672 (GRCm39)	missense	possibly damaging	0.63
R1536:Rps6kc1	UTSW	1	190,603,965 (GRCm39)	missense	possibly damaging	0.89
R1709:Rps6kc1	UTSW	1	190,532,533 (GRCm39)	missense	possibly damaging	0.72
R2060:Rps6kc1	UTSW	1	190,542,305 (GRCm39)	missense	possibly damaging	0.94
R2153:Rps6kc1	UTSW	1	190,530,920 (GRCm39)	missense	probably damaging	1.00
R2871:Rps6kc1	UTSW	1	190,631,766 (GRCm39)	missense	probably damaging	1.00
R2871:Rps6kc1	UTSW	1	190,631,766 (GRCm39)	missense	probably damaging	1.00
R4177:Rps6kc1	UTSW	1	190,532,616 (GRCm39)	missense	possibly damaging	0.92
R4231:Rps6kc1	UTSW	1	190,541,097 (GRCm39)	missense	probably damaging	1.00
R4401:Rps6kc1	UTSW	1	190,532,155 (GRCm39)	missense	probably benign	0.32
R4402:Rps6kc1	UTSW	1	190,530,802 (GRCm39)	intron	probably benign
R4785:Rps6kc1	UTSW	1	190,482,385 (GRCm39)	missense	probably benign	0.00
R4810:Rps6kc1	UTSW	1	190,541,160 (GRCm39)	missense	probably damaging	1.00
R4887:Rps6kc1	UTSW	1	190,530,891 (GRCm39)	missense	probably benign	0.13
R4976:Rps6kc1	UTSW	1	190,530,924 (GRCm39)	missense	probably damaging	0.99
R5134:Rps6kc1	UTSW	1	190,505,845 (GRCm39)	missense	probably damaging	1.00
R5217:Rps6kc1	UTSW	1	190,515,802 (GRCm39)	missense	probably damaging	1.00
R5350:Rps6kc1	UTSW	1	190,531,663 (GRCm39)	missense	probably benign
R5952:Rps6kc1	UTSW	1	190,617,617 (GRCm39)	missense	probably benign	0.05
R5979:Rps6kc1	UTSW	1	190,532,632 (GRCm39)	missense	probably damaging	1.00
R6597:Rps6kc1	UTSW	1	190,482,381 (GRCm39)	missense	probably benign	0.20
R7024:Rps6kc1	UTSW	1	190,532,407 (GRCm39)	missense	probably benign	0.00
R7192:Rps6kc1	UTSW	1	190,532,556 (GRCm39)	missense	probably damaging	0.98
R7423:Rps6kc1	UTSW	1	190,531,293 (GRCm39)	missense	probably damaging	1.00
R7493:Rps6kc1	UTSW	1	190,532,254 (GRCm39)	missense	probably benign	0.26
R7718:Rps6kc1	UTSW	1	190,604,022 (GRCm39)	missense	probably benign	0.13
R7783:Rps6kc1	UTSW	1	190,505,851 (GRCm39)	missense	probably benign	0.39
R7794:Rps6kc1	UTSW	1	190,515,825 (GRCm39)	missense	probably benign	0.05
R7972:Rps6kc1	UTSW	1	190,531,321 (GRCm39)	missense	probably benign	0.14
R9236:Rps6kc1	UTSW	1	190,532,200 (GRCm39)	missense	probably damaging	1.00
R9370:Rps6kc1	UTSW	1	190,531,222 (GRCm39)	missense	probably damaging	1.00
R9586:Rps6kc1	UTSW	1	190,514,774 (GRCm39)	missense	probably benign	0.03
R9756:Rps6kc1	UTSW	1	190,604,021 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTCTAGATCCTCACCTCCAGAG -3'
(R):5'- GCTCTCAGGAAAGCTTGGAC -3'

Sequencing Primer
(F):5'- CTCCAGAGAAGACCCTGAGG -3'
(R):5'- CTCTCAGGAAAGCTTGGACATTAAG -3'

Posted On

2016-03-01