Mutagenetix > Incidental Mutation

Incidental Mutation 'R5120:Rps6kl1'

392955

Institutional Source

Beutler Lab

Gene Symbol

Rps6kl1

Ensembl Gene

ENSMUSG00000019235

Gene Name

ribosomal protein S6 kinase-like 1

Synonyms

A830084F09Rik

MMRRC Submission

042708-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5120 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85182023-85198038 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 85186122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 329 (G329C)

Ref Sequence

ENSEMBL: ENSMUSP00000152336 (fasta)

Gene Model

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

AlphaFold

Q8R2S1

Predicted Effect

probably damaging
Transcript: ENSMUST00000019379
AA Change: G303C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000019379
Gene: ENSMUSG00000019235
AA Change: G303C

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 damaging
Transcript: ENSMUST00000221972
AA Change: G329C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222232

Meta Mutation Damage Score

0.2574

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 90.6%

Validation Efficiency

100% (97/97)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310033P09Rik	A	G	11: 59,101,061 (GRCm39)	H225R	probably benign	Het
Abcc9	T	A	6: 142,602,344 (GRCm39)	I690F	probably benign	Het
Acp4	A	T	7: 43,906,395 (GRCm39)	D52E	probably damaging	Het
Adam17	T	C	12: 21,393,020 (GRCm39)		probably benign	Het
Adamts15	T	C	9: 30,832,872 (GRCm39)	E221G	probably damaging	Het
Aoc2	A	G	11: 101,216,540 (GRCm39)	T208A	probably benign	Het
Apoa4	T	G	9: 46,154,035 (GRCm39)	I212S	probably damaging	Het
Bptf	A	T	11: 106,964,211 (GRCm39)	M1598K	probably damaging	Het
Camsap3	G	A	8: 3,650,680 (GRCm39)	R209Q	probably damaging	Het
Ccdc171	C	A	4: 83,476,763 (GRCm39)		probably benign	Het
Celsr2	G	C	3: 108,300,436 (GRCm39)	P2875A	probably benign	Het
Cenpb	A	G	2: 131,021,738 (GRCm39)	V20A	probably benign	Het
Cfap61	A	T	2: 145,985,080 (GRCm39)	K975*	probably null	Het
Cfhr4	T	C	1: 139,680,841 (GRCm39)	S226G	probably benign	Het
Col9a2	G	T	4: 120,896,969 (GRCm39)	A20S	unknown	Het
Crnn	A	T	3: 93,056,203 (GRCm39)	I330F	probably benign	Het
Csf3r	C	A	4: 125,929,620 (GRCm39)	P381Q	probably benign	Het
Csmd3	G	A	15: 48,536,891 (GRCm39)	Q104*	probably null	Het
Ctnna1	G	A	18: 35,315,607 (GRCm39)		probably null	Het
Cwf19l2	C	T	9: 3,418,761 (GRCm39)	Q183*	probably null	Het
Ddx60	T	C	8: 62,398,940 (GRCm39)	Y220H	probably benign	Het
Dhh	T	C	15: 98,796,038 (GRCm39)	Q39R	probably benign	Het
Dynlrb2	T	A	8: 117,242,437 (GRCm39)	I89N	possibly damaging	Het
Dytn	T	C	1: 63,662,202 (GRCm39)	E645G	probably benign	Het
Efcab7	A	G	4: 99,754,688 (GRCm39)	T287A	probably damaging	Het
Eogt	A	G	6: 97,111,276 (GRCm39)	V195A	probably benign	Het
Ep400	G	T	5: 110,904,224 (GRCm39)	P125Q	probably damaging	Het
Fasn	A	G	11: 120,702,217 (GRCm39)	V1815A	probably benign	Het
Gm5866	T	C	5: 52,740,224 (GRCm39)		noncoding transcript	Het
Gm8674	C	A	13: 50,055,984 (GRCm39)		noncoding transcript	Het
Gpat4	G	T	8: 23,670,218 (GRCm39)	H270Q	possibly damaging	Het
Grik5	A	G	7: 24,710,065 (GRCm39)	L890P	probably damaging	Het
Gsap	A	G	5: 21,474,934 (GRCm39)	N500S	probably damaging	Het
H2-M10.1	T	C	17: 36,636,048 (GRCm39)	D173G	probably benign	Het
Igfn1	T	A	1: 135,901,240 (GRCm39)	I413F	possibly damaging	Het
Ighv1-52	G	T	12: 115,109,406 (GRCm39)	H17N	probably benign	Het
Kcnu1	T	A	8: 26,424,516 (GRCm39)	D270E	possibly damaging	Het
Kif16b	A	C	2: 142,690,259 (GRCm39)	N274K	probably damaging	Het
Klk1b11	C	T	7: 43,648,446 (GRCm39)	T151I	probably benign	Het
Krtap13	A	G	16: 88,548,458 (GRCm39)	F10S	probably damaging	Het
Large1	A	T	8: 73,585,969 (GRCm39)	I379N	probably damaging	Het
Lhx8	T	C	3: 154,017,332 (GRCm39)	H301R	probably damaging	Het
Lrriq3	T	C	3: 154,835,021 (GRCm39)	V252A	probably benign	Het
Lysmd3	T	A	13: 81,817,311 (GRCm39)	I96N	probably damaging	Het
Mpeg1	C	T	19: 12,438,793 (GRCm39)	Q84*	probably null	Het
Myoz1	C	T	14: 20,700,722 (GRCm39)	G165D	probably benign	Het
Myt1	G	A	2: 181,439,413 (GRCm39)	V312I	probably benign	Het
Ndufb7	T	C	8: 84,293,606 (GRCm39)		probably benign	Het
Numa1	C	T	7: 101,626,644 (GRCm39)	T10M	probably damaging	Het
Or10d1b	T	A	9: 39,613,366 (GRCm39)	H233L	probably benign	Het
Or1e30	A	C	11: 73,677,790 (GRCm39)	I9L	probably benign	Het
Or2g7	A	T	17: 38,378,157 (GRCm39)	I32F	probably damaging	Het
Or4f14d	A	T	2: 111,960,903 (GRCm39)	D84E	probably damaging	Het
Or4k39	T	C	2: 111,239,585 (GRCm39)		noncoding transcript	Het
Osmr	A	T	15: 6,856,756 (GRCm39)	S464T	probably benign	Het
Pak5	G	A	2: 135,925,149 (GRCm39)	H718Y	probably damaging	Het
Pan2	T	A	10: 128,150,864 (GRCm39)		probably null	Het
Pik3r4	T	C	9: 105,546,208 (GRCm39)	S853P	probably benign	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Polr3gl	T	A	3: 96,485,795 (GRCm39)		probably benign	Het
Psd2	G	A	18: 36,112,863 (GRCm39)	R186Q	possibly damaging	Het
Psd4	T	C	2: 24,295,450 (GRCm39)	V868A	probably benign	Het
Ralgapa2	G	T	2: 146,254,004 (GRCm39)	T852K	probably benign	Het
Rbm43	T	C	2: 51,822,435 (GRCm39)		probably benign	Het
Scaf11	T	C	15: 96,317,423 (GRCm39)	T714A	probably benign	Het
Selenoo	C	A	15: 88,978,508 (GRCm39)	N310K	possibly damaging	Het
Sepsecs	T	C	5: 52,818,003 (GRCm39)	Q258R	probably damaging	Het
Sgcz	T	C	8: 37,993,420 (GRCm39)	S226G	probably benign	Het
Slfn5	A	G	11: 82,851,754 (GRCm39)	K627E	probably damaging	Het
Sos1	A	T	17: 80,715,677 (GRCm39)	F1027I	probably damaging	Het
Ssh1	C	G	5: 114,095,459 (GRCm39)	V228L	possibly damaging	Het
Sugp1	C	A	8: 70,501,317 (GRCm39)	P65T	probably benign	Het
Tas2r106	T	A	6: 131,655,779 (GRCm39)	N24I	probably damaging	Het
Tex10	T	C	4: 48,459,272 (GRCm39)	E534G	possibly damaging	Het
Tmem182	C	T	1: 40,894,061 (GRCm39)	T192I	possibly damaging	Het
Traf7	T	A	17: 24,737,718 (GRCm39)	K51*	probably null	Het
Trap1	C	A	16: 3,861,952 (GRCm39)	R604L	probably damaging	Het
Trim6	T	A	7: 103,877,447 (GRCm39)	L179Q	probably damaging	Het
Ubfd1	T	C	7: 121,670,973 (GRCm39)	S264P	probably damaging	Het
Upk3bl	T	C	5: 136,093,045 (GRCm39)		probably benign	Het
Wdfy3	T	A	5: 102,015,972 (GRCm39)	Q2601L	possibly damaging	Het
Wdr89	A	G	12: 75,679,412 (GRCm39)	Y281H	probably damaging	Het
Zfp286	A	T	11: 62,671,551 (GRCm39)	M174K	probably benign	Het
Zmym1	T	C	4: 126,945,230 (GRCm39)		probably null	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
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
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'- TGATGCAGCGCCTCTAATGC -3'
(R):5'- GTTCAGGAGAAGTCGCAAGC -3'

Sequencing Primer
(F):5'- AGCGCCTCTAATGCCAGCAG -3'
(R):5'- GGCCATACCCTGAGGCAGAAC -3'

Posted On

2016-06-15