Mutagenetix > Incidental Mutation

Incidental Mutation 'R4467:Rps6kl1'

329251

Institutional Source

Beutler Lab

Gene Symbol

Rps6kl1

Ensembl Gene

ENSMUSG00000019235

Gene Name

ribosomal protein S6 kinase-like 1

Synonyms

A830084F09Rik

MMRRC Submission

041724-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4467 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85182023-85198038 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 85194582 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 110 (A110T)

Ref Sequence

ENSEMBL: ENSMUSP00000152336 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019379] [ENSMUST00000221972]

AlphaFold

Q8R2S1

Predicted Effect

probably damaging
Transcript: ENSMUST00000019379
AA Change: A100T

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

SMART Domains

Protein: ENSMUSP00000019379
Gene: ENSMUSG00000019235
AA Change: A100T

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC
MIT	46	123	8.99e-25	SMART
low complexity region	155	166	N/A	INTRINSIC
Pfam:Pkinase_Tyr	178	519	1.9e-12	PFAM
Pfam:Pkinase	367	534	1.1e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000221972
AA Change: A110T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223399

Meta Mutation Damage Score

0.4742

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	T	5: 64,056,182 (GRCm39)		probably benign	Het
Atg4a-ps	A	G	3: 103,553,171 (GRCm39)	Y57H	probably damaging	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Bms1	G	A	6: 118,360,808 (GRCm39)	T1220I	probably damaging	Het
Brat1	T	C	5: 140,690,826 (GRCm39)		probably benign	Het
Cds2	T	A	2: 132,136,366 (GRCm39)	Y39*	probably null	Het
Chrnd	T	A	1: 87,125,099 (GRCm39)	L384Q	probably damaging	Het
Cpa3	A	T	3: 20,282,981 (GRCm39)	Y155*	probably null	Het
Crlf1	G	A	8: 70,953,606 (GRCm39)	W260*	probably null	Het
Cux1	C	G	5: 136,341,576 (GRCm39)	E605D	probably damaging	Het
Cylc2	C	G	4: 51,229,651 (GRCm39)	T331R	unknown	Het
Dmtf1	T	C	5: 9,186,085 (GRCm39)	N167S	probably damaging	Het
Dnaaf9	A	G	2: 130,609,567 (GRCm39)	I372T	probably damaging	Het
Dnai7	A	T	6: 145,128,944 (GRCm39)		probably null	Het
Dtx2	T	A	5: 136,040,930 (GRCm39)	W112R	probably damaging	Het
Elf3	A	G	1: 135,184,582 (GRCm39)	I138T	probably damaging	Het
F11	T	A	8: 45,694,511 (GRCm39)	I617F	probably damaging	Het
Fdps	A	T	3: 89,008,093 (GRCm39)	D8E	possibly damaging	Het
Fzd10	C	A	5: 128,678,340 (GRCm39)	T20K	probably benign	Het
Gm9978	T	A	10: 78,322,750 (GRCm39)		noncoding transcript	Het
Gpr158	T	A	2: 21,831,810 (GRCm39)	M970K	probably damaging	Het
Has1	C	T	17: 18,064,257 (GRCm39)	V461M	probably benign	Het
Hdac3	C	T	18: 38,085,566 (GRCm39)	G80D	probably benign	Het
Klk12	A	T	7: 43,422,807 (GRCm39)	R245W	probably damaging	Het
Lamp5	A	G	2: 135,900,940 (GRCm39)	I47V	probably damaging	Het
Or6c1b	T	C	10: 129,272,933 (GRCm39)	I84T	probably benign	Het
Ovgp1	A	G	3: 105,885,027 (GRCm39)	D122G	probably benign	Het
Piezo1	T	C	8: 123,213,135 (GRCm39)	E1875G	probably benign	Het
Pih1d1	A	G	7: 44,807,921 (GRCm39)	M132V	possibly damaging	Het
Pon2	C	T	6: 5,267,021 (GRCm39)	A241T	probably benign	Het
Prkce	A	G	17: 86,927,339 (GRCm39)	I538V	possibly damaging	Het
Rab36	C	T	10: 74,887,875 (GRCm39)	R249*	probably null	Het
Rsad1	T	C	11: 94,435,356 (GRCm39)	T244A	probably benign	Het
Slc22a7	T	C	17: 46,743,436 (GRCm39)	I532V	probably benign	Het
Slc2a7	T	C	4: 150,247,731 (GRCm39)	V377A	possibly damaging	Het
Slx4	A	G	16: 3,806,919 (GRCm39)	V508A	possibly damaging	Het
Stag2	A	G	X: 41,322,749 (GRCm39)	S400G	probably benign	Het
Stat6	T	G	10: 127,487,097 (GRCm39)	I201M	probably damaging	Het
Stim2	T	C	5: 54,273,536 (GRCm39)		probably null	Het
Tbc1d9	A	G	8: 83,937,107 (GRCm39)	Y63C	probably damaging	Het
Tctn2	T	C	5: 124,758,252 (GRCm39)		noncoding transcript	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Ubr5	T	A	15: 38,004,580 (GRCm39)	T1282S	probably damaging	Het
Ufl1	A	T	4: 25,254,806 (GRCm39)	I550N	probably damaging	Het
Uty	A	G	Y: 1,158,372 (GRCm39)	V557A	possibly damaging	Het
Vmn1r54	T	C	6: 90,246,253 (GRCm39)	S56P	probably damaging	Het
Zfp980	G	A	4: 145,428,653 (GRCm39)	G461S	probably benign	Het

Other mutations in Rps6kl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Rps6kl1	APN	12	85,186,203 (GRCm39)	missense	probably benign	0.43
IGL00493:Rps6kl1	APN	12	85,186,157 (GRCm39)	missense	probably benign	0.01
IGL01372:Rps6kl1	APN	12	85,193,663 (GRCm39)	missense	probably damaging	1.00
IGL02378:Rps6kl1	APN	12	85,185,448 (GRCm39)	missense	probably damaging	0.98
IGL02930:Rps6kl1	APN	12	85,196,548 (GRCm39)	missense	probably benign
BB008:Rps6kl1	UTSW	12	85,196,566 (GRCm39)	missense	possibly damaging	0.92
BB018:Rps6kl1	UTSW	12	85,196,566 (GRCm39)	missense	possibly damaging	0.92
R2059:Rps6kl1	UTSW	12	85,186,397 (GRCm39)	missense	probably benign	0.17
R4738:Rps6kl1	UTSW	12	85,187,161 (GRCm39)	missense	probably benign	0.40
R5120:Rps6kl1	UTSW	12	85,186,122 (GRCm39)	missense	probably damaging	1.00
R5415:Rps6kl1	UTSW	12	85,186,155 (GRCm39)	missense	probably benign	0.00
R5593:Rps6kl1	UTSW	12	85,193,675 (GRCm39)	missense	possibly damaging	0.88
R5669:Rps6kl1	UTSW	12	85,194,641 (GRCm39)	missense	probably damaging	1.00
R7931:Rps6kl1	UTSW	12	85,196,566 (GRCm39)	missense	possibly damaging	0.92
R8681:Rps6kl1	UTSW	12	85,194,629 (GRCm39)	missense	probably damaging	1.00
R9081:Rps6kl1	UTSW	12	85,185,881 (GRCm39)	missense	probably damaging	0.96
R9406:Rps6kl1	UTSW	12	85,186,280 (GRCm39)	missense	probably benign
R9681:Rps6kl1	UTSW	12	85,183,599 (GRCm39)	missense	probably damaging	0.97
Z1176:Rps6kl1	UTSW	12	85,186,129 (GRCm39)	missense	probably benign	0.06
Z1177:Rps6kl1	UTSW	12	85,194,588 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ACCTTGCTTCACACTCAGAC -3'
(R):5'- CTGTCTGAGAAGTAGGAGCCATG -3'

Sequencing Primer
(F):5'- AGACTCACATCCTCTGCTGC -3'
(R):5'- CATGGGCGGTGGTGACAG -3'

Posted On

2015-07-21