Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00493:Rps6kl1'

5970

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rps6kl1

Ensembl Gene

ENSMUSG00000019235

Gene Name

ribosomal protein S6 kinase-like 1

Synonyms

A830084F09Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00493

Quality Score

Status

Chromosome

Chromosomal Location

85182023-85198038 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 85186157 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 291 (P291L)

Ref Sequence

ENSEMBL: ENSMUSP00000019379 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019379] [ENSMUST00000221357] [ENSMUST00000221972]

AlphaFold

Q8R2S1

Predicted Effect

probably benign
Transcript: ENSMUST00000019379
AA Change: P291L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000019379
Gene: ENSMUSG00000019235
AA Change: P291L

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 benign
Transcript: ENSMUST00000221357

Predicted Effect

probably benign
Transcript: ENSMUST00000221972
AA Change: P317L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222232

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb2	A	G	13: 8,751,761 (GRCm39)	T509A	probably benign	Het
Arhgap23	T	C	11: 97,337,379 (GRCm39)		probably null	Het
Astn1	A	T	1: 158,427,889 (GRCm39)	I687F	possibly damaging	Het
Atg4d	T	C	9: 21,178,217 (GRCm39)	F112L	probably damaging	Het
Bltp3b	A	C	10: 89,615,846 (GRCm39)	D163A	probably damaging	Het
Cd200	T	A	16: 45,217,409 (GRCm39)	D94V	probably damaging	Het
Cfap46	T	C	7: 139,194,359 (GRCm39)	K2285R	probably benign	Het
Clhc1	T	A	11: 29,521,745 (GRCm39)	I426N	probably damaging	Het
Cnnm2	T	A	19: 46,751,659 (GRCm39)	V483E	probably damaging	Het
Dennd2b	G	A	7: 109,126,915 (GRCm39)	A932V	possibly damaging	Het
Dlc1	A	T	8: 37,037,436 (GRCm39)		probably benign	Het
Fpgs	T	C	2: 32,578,009 (GRCm39)	I138V	possibly damaging	Het
Gpr152	T	C	19: 4,193,506 (GRCm39)	V349A	probably benign	Het
Hk1	C	A	10: 62,122,127 (GRCm39)	E523*	probably null	Het
Ift70a1	C	A	2: 75,812,085 (GRCm39)		probably benign	Het
Krt6a	T	G	15: 101,601,229 (GRCm39)	K241N	probably damaging	Het
Mcm3ap	A	G	10: 76,307,011 (GRCm39)	S375G	probably benign	Het
Meikin	C	T	11: 54,289,320 (GRCm39)	P231L	probably damaging	Het
Micall1	G	A	15: 78,999,221 (GRCm39)		probably benign	Het
Mvk	G	A	5: 114,583,502 (GRCm39)	V14I	probably benign	Het
Myo6	C	T	9: 80,199,754 (GRCm39)	S1021L	probably damaging	Het
N4bp2l2	G	A	5: 150,585,401 (GRCm39)	T193M	probably benign	Het
Naip5	G	T	13: 100,367,279 (GRCm39)	D272E	probably damaging	Het
Nptn	T	A	9: 58,550,922 (GRCm39)	N316K	probably damaging	Het
Pde6c	T	C	19: 38,151,324 (GRCm39)		probably benign	Het
Prg4	T	A	1: 150,327,671 (GRCm39)	I850L	probably damaging	Het
Rdm1	T	G	11: 101,526,580 (GRCm39)	C251G	possibly damaging	Het
Relch	A	G	1: 105,624,324 (GRCm39)		probably benign	Het
Sel1l	A	G	12: 91,781,387 (GRCm39)		probably benign	Het
Serpinb1b	T	C	13: 33,277,850 (GRCm39)	F361S	probably damaging	Het
Sirpb1a	G	A	3: 15,475,788 (GRCm39)		probably benign	Het
Smpd1	T	G	7: 105,205,848 (GRCm39)	V405G	probably damaging	Het
Spmip11	T	C	15: 98,486,425 (GRCm39)		probably benign	Het
Tead3	T	C	17: 28,551,780 (GRCm39)	T438A	possibly damaging	Het
Treh	A	T	9: 44,595,197 (GRCm39)	D89V	probably damaging	Het
Trim10	A	T	17: 37,188,140 (GRCm39)	H452L	probably benign	Het
Ugt2b1	A	G	5: 87,073,817 (GRCm39)	C181R	probably benign	Het
Xdh	A	T	17: 74,230,101 (GRCm39)	F277I	possibly damaging	Het
Zswim4	T	G	8: 84,938,769 (GRCm39)	T1038P	probably damaging	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
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
R4467:Rps6kl1	UTSW	12	85,194,582 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2012-04-20