Mutagenetix > Incidental Mutation

Incidental Mutation 'BB008:Rps6kl1'

642481

Institutional Source

Beutler Lab

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 #

BB008

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85182023-85198038 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85196566 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 33 (I33V)

Ref Sequence

ENSEMBL: ENSMUSP00000152336 (fasta)

Gene Model

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

AlphaFold

Q8R2S1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019379
AA Change: I33V

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000019379
Gene: ENSMUSG00000019235
AA Change: I33V

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

possibly damaging
Transcript: ENSMUST00000221972
AA Change: I33V

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.0761

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp2	A	T	2: 91,037,060 (GRCm39)		probably null	Het
Aire	G	A	10: 77,866,130 (GRCm39)	A536V	probably damaging	Het
Aox4	A	G	1: 58,294,645 (GRCm39)	I951M	probably benign	Het
Ash1l	G	T	3: 88,950,848 (GRCm39)	C2190F	probably damaging	Het
C1s1	C	T	6: 124,510,359 (GRCm39)	V363M	probably damaging	Het
Diaph3	A	T	14: 87,352,456 (GRCm39)	D48E	possibly damaging	Het
Dnajc13	A	G	9: 104,095,763 (GRCm39)	V559A	probably benign	Het
Dzank1	T	C	2: 144,323,614 (GRCm39)	I610V	probably benign	Het
F7	A	G	8: 13,085,209 (GRCm39)	I412V	probably benign	Het
Flt1	A	G	5: 147,525,382 (GRCm39)	S919P	probably damaging	Het
Igkv4-70	C	A	6: 69,244,975 (GRCm39)	R82L	probably damaging	Het
Lnp1	T	A	16: 56,748,281 (GRCm39)	R4*	probably null	Het
Lrrc3b	T	C	14: 15,358,018 (GRCm38)	N196S	probably benign	Het
Mlxip	A	G	5: 123,588,558 (GRCm39)	D816G	probably damaging	Het
Myh7	C	T	14: 55,221,119 (GRCm39)	E935K	possibly damaging	Het
Myom3	A	T	4: 135,516,947 (GRCm39)	H839L	probably benign	Het
Nebl	C	T	2: 17,381,433 (GRCm39)		probably null	Het
Ninj1	T	C	13: 49,347,432 (GRCm39)	I99T	probably damaging	Het
Or11g1	A	C	14: 50,651,786 (GRCm39)	M262L	probably damaging	Het
Or2l5	A	G	16: 19,334,258 (GRCm39)	S43P	possibly damaging	Het
Or4a76	T	A	2: 89,460,448 (GRCm39)	I265F	possibly damaging	Het
Or8g55	A	T	9: 39,785,146 (GRCm39)	T192S	possibly damaging	Het
Otop1	A	G	5: 38,445,364 (GRCm39)	H174R	probably damaging	Het
Pcdhb16	A	G	18: 37,611,510 (GRCm39)	N157D	possibly damaging	Het
Prss44	A	C	9: 110,643,746 (GRCm39)	Q130P	probably damaging	Het
Ptpn4	T	A	1: 119,607,925 (GRCm39)	M712L	probably damaging	Het
Ptprh	C	A	7: 4,574,987 (GRCm39)	S344I	probably benign	Het
Scn1a	T	C	2: 66,148,156 (GRCm39)	S110G	probably damaging	Het
Sdk2	C	A	11: 113,784,267 (GRCm39)	K157N	possibly damaging	Het
Serpina1d	A	T	12: 103,733,815 (GRCm39)	V163D	probably damaging	Het
Serpina3g	T	C	12: 104,205,428 (GRCm39)	S56P	probably benign	Het
Slc4a4	T	C	5: 89,318,640 (GRCm39)	L636P	probably benign	Het
Slc6a1	T	C	6: 114,288,863 (GRCm39)	F474S	probably benign	Het
Slco6d1	A	G	1: 98,356,141 (GRCm39)	D235G	probably damaging	Het
Srgn	A	T	10: 62,330,763 (GRCm39)	M114K	possibly damaging	Het
Syne3	A	T	12: 104,929,491 (GRCm39)	V243E	probably damaging	Het
Tcf19	A	G	17: 35,825,804 (GRCm39)	F118L	probably damaging	Het
Tln2	A	T	9: 67,165,742 (GRCm39)		probably null	Het
Tnxb	A	G	17: 34,907,672 (GRCm39)	T1239A	probably damaging	Het
Traip	A	G	9: 107,848,241 (GRCm39)	I453M	probably benign	Het
Vmn1r157	C	T	7: 22,461,210 (GRCm39)	A30V	probably damaging	Het
Vmn1r233	G	A	17: 21,214,125 (GRCm39)	A275V	probably benign	Het
Vps13d	G	A	4: 144,822,854 (GRCm39)	R2976*	probably null	Het
Wdr75	T	C	1: 45,858,795 (GRCm39)	F655L	probably benign	Het
Wwp1	A	G	4: 19,650,114 (GRCm39)		probably null	Het
Zc3h4	T	C	7: 16,166,909 (GRCm39)	L747P	unknown	Het
Zfp268	G	A	4: 145,349,126 (GRCm39)	D188N	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- GGCAGGGTTAACACAATGCC -3'
(R):5'- AAGACGGGACCTTACCATCG -3'

Sequencing Primer
(F):5'- CAGGGTTAACACAATGCCCTAGTATG -3'
(R):5'- GATGTGAACATCTGTCTCTCCAATG -3'

Posted On

2020-08-01