Mutagenetix > Incidental Mutation

Incidental Mutation 'R5342:Stk16'

422365

Institutional Source

Beutler Lab

Gene Symbol

Stk16

Ensembl Gene

ENSMUSG00000026201

Gene Name

serine/threonine kinase 16

Synonyms

EDPK, Embryo-Derived Protein Kinase, PKL12, Krct

MMRRC Submission

042921-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5342 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75187482-75192250 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75189609 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 174 (C174S)

Ref Sequence

ENSEMBL: ENSMUSP00000139846 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027401] [ENSMUST00000113623] [ENSMUST00000123825] [ENSMUST00000186213] [ENSMUST00000155716] [ENSMUST00000185448] [ENSMUST00000144355] [ENSMUST00000188460] [ENSMUST00000189698] [ENSMUST00000191108] [ENSMUST00000188593] [ENSMUST00000190717] [ENSMUST00000186758] [ENSMUST00000189131]

AlphaFold

O88697

Predicted Effect

probably benign
Transcript: ENSMUST00000027401
AA Change: C174S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000027401
Gene: ENSMUSG00000026201
AA Change: C174S

Domain	Start	End	E-Value	Type
Pfam:Pkinase	20	290	3.3e-47	PFAM
Pfam:Pkinase_Tyr	21	290	3e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000079464

SMART Domains

Protein: ENSMUSP00000078429
Gene: ENSMUSG00000026202

Domain	Start	End	E-Value	Type
Tubulin	49	246	4.34e-79	SMART
Tubulin_C	248	393	7.88e-59	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113623

SMART Domains

Protein: ENSMUSP00000109253
Gene: ENSMUSG00000026200

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
Pfam:Glyco_hydro_35	34	351	4.1e-123	PFAM
Pfam:Glyco_hydro_42	48	209	6.6e-12	PFAM
low complexity region	355	371	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123825

SMART Domains

Protein: ENSMUSP00000122688
Gene: ENSMUSG00000026201

Domain	Start	End	E-Value	Type
Pfam:Pkinase	20	122	9.1e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126328

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131408

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131738

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135484

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145144

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186350

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132507

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139627

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184844

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142052

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186492

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156012

Predicted Effect

probably benign
Transcript: ENSMUST00000186213

SMART Domains

Protein: ENSMUSP00000140657
Gene: ENSMUSG00000026202

Domain	Start	End	E-Value	Type
Tubulin	49	246	4.34e-79	SMART
Tubulin_C	248	393	7.88e-59	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000155716

SMART Domains

Protein: ENSMUSP00000136285
Gene: ENSMUSG00000026200

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
Pfam:Glyco_hydro_35	34	351	4.2e-125	PFAM
Pfam:Glyco_hydro_42	48	209	6.6e-12	PFAM
low complexity region	355	371	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000185448

SMART Domains

Protein: ENSMUSP00000140820
Gene: ENSMUSG00000026200

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Glyco_hydro_35	34	188	1.6e-71	PFAM
Pfam:Glyco_hydro_42	48	188	6.4e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186173

Predicted Effect

probably benign
Transcript: ENSMUST00000144355

SMART Domains

Protein: ENSMUSP00000115964
Gene: ENSMUSG00000026201

Domain	Start	End	E-Value	Type
Pfam:Pkinase	20	122	9.1e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189242

Predicted Effect

probably benign
Transcript: ENSMUST00000188460
AA Change: C56S

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000139998
Gene: ENSMUSG00000026201
AA Change: C56S

Domain	Start	End	E-Value	Type
S_TKc	20	172	1e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000189698
AA Change: C174S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000140329
Gene: ENSMUSG00000026201
AA Change: C174S

Domain	Start	End	E-Value	Type
S_TKc	20	203	1.1e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000191108
AA Change: C174S

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000139846
Gene: ENSMUSG00000026201
AA Change: C174S

Domain	Start	End	E-Value	Type
Pfam:Pkinase	20	186	8.6e-29	PFAM
Pfam:Pkinase_Tyr	21	184	2.1e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187103

Predicted Effect

probably benign
Transcript: ENSMUST00000188593

SMART Domains

Protein: ENSMUSP00000140881
Gene: ENSMUSG00000026202

Domain	Start	End	E-Value	Type
Pfam:Tubulin	2	75	2e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000190717

SMART Domains

Protein: ENSMUSP00000141097
Gene: ENSMUSG00000026202

Domain	Start	End	E-Value	Type
Pfam:Tubulin	1	89	1.4e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186758

SMART Domains

Protein: ENSMUSP00000140552
Gene: ENSMUSG00000026202

Domain	Start	End	E-Value	Type
Pfam:Tubulin	1	100	1.1e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186971

Predicted Effect

probably benign
Transcript: ENSMUST00000189131

SMART Domains

Protein: ENSMUSP00000140970
Gene: ENSMUSG00000026202

Domain	Start	End	E-Value	Type
Pfam:Tubulin	1	81	3.6e-15	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrb3	A	C	8: 27,716,809 (GRCm39)	Y392*	probably null	Het
Arap1	G	A	7: 101,054,167 (GRCm39)	E1330K	probably benign	Het
Atg2b	G	T	12: 105,625,175 (GRCm39)	D600E	possibly damaging	Het
Atp1b2	C	T	11: 69,493,654 (GRCm39)	V142I	probably damaging	Het
AW551984	A	T	9: 39,505,847 (GRCm39)	M450K	probably damaging	Het
Bcar3	A	G	3: 122,220,298 (GRCm39)	D65G	probably damaging	Het
Ccnt2	T	C	1: 127,719,470 (GRCm39)		silent	Het
Cdca7l	A	G	12: 117,840,768 (GRCm39)	Y430C	probably damaging	Het
Ces4a	A	G	8: 105,872,775 (GRCm39)	T343A	probably benign	Het
Clec2g	C	T	6: 128,925,714 (GRCm39)	A41V	probably benign	Het
Crybg3	A	T	16: 59,342,512 (GRCm39)	Y2708N	probably damaging	Het
Cspg4b	T	C	13: 113,502,803 (GRCm39)		probably null	Het
Dmxl1	A	T	18: 50,084,302 (GRCm39)	E2758V	probably damaging	Het
Eci2	C	T	13: 35,162,707 (GRCm39)	E283K	probably benign	Het
Edrf1	T	A	7: 133,253,639 (GRCm39)		probably null	Het
Eif3b	T	C	5: 140,411,035 (GRCm39)	L162P	probably damaging	Het
Ercc3	A	G	18: 32,378,648 (GRCm39)	I210V	probably benign	Het
Exoc1	A	G	5: 76,714,861 (GRCm39)	N739S	probably damaging	Het
Gm7334	A	G	17: 51,005,782 (GRCm39)	K23E	probably benign	Het
Gm7356	T	G	17: 14,221,360 (GRCm39)	D223A	possibly damaging	Het
Klhl26	A	G	8: 70,908,215 (GRCm39)	L47P	probably damaging	Het
Klhl42	C	T	6: 146,993,784 (GRCm39)	T252I	possibly damaging	Het
Morc1	G	T	16: 48,438,872 (GRCm39)	G756W	probably damaging	Het
Mroh2b	G	T	15: 4,943,615 (GRCm39)	E384*	probably null	Het
Nol10	G	A	12: 17,419,621 (GRCm39)		probably null	Het
Nxpe5	T	C	5: 138,237,503 (GRCm39)	L9P	probably damaging	Het
Or2r3	A	G	6: 42,448,836 (GRCm39)	I92T	probably damaging	Het
Or52z12	C	T	7: 103,234,035 (GRCm39)	R269C	probably benign	Het
Or7e166	A	G	9: 19,624,333 (GRCm39)	D70G	probably damaging	Het
Pak2	T	C	16: 31,863,306 (GRCm39)	E94G	probably damaging	Het
Pcdha7	A	G	18: 37,107,724 (GRCm39)	K250E	possibly damaging	Het
Pde8b	T	C	13: 95,178,498 (GRCm39)	T541A	probably damaging	Het
Peg3	A	T	7: 6,712,969 (GRCm39)	I751N	probably damaging	Het
Prpsap2	T	C	11: 61,622,396 (GRCm39)	D269G	probably damaging	Het
Raver2	C	A	4: 100,959,889 (GRCm39)	T123K	possibly damaging	Het
Rpgrip1	G	A	14: 52,382,666 (GRCm39)	D600N	possibly damaging	Het
Scn2b	A	G	9: 45,036,816 (GRCm39)	Y108C	probably damaging	Het
Sdr16c6	T	C	4: 4,069,923 (GRCm39)	E139G	probably damaging	Het
Sgpp2	A	G	1: 78,336,825 (GRCm39)	I68V	probably benign	Het
Sorbs2	T	A	8: 46,249,050 (GRCm39)	I687N	probably damaging	Het
Sorcs3	G	A	19: 48,784,911 (GRCm39)		probably null	Het
Styxl2	T	C	1: 165,937,819 (GRCm39)	E80G	probably benign	Het
Ttll9	C	A	2: 152,833,572 (GRCm39)	N198K	possibly damaging	Het
Unc13c	A	T	9: 73,838,105 (GRCm39)	D915E	probably benign	Het
Unc5b	T	A	10: 60,614,046 (GRCm39)	K268*	probably null	Het
Vim	T	A	2: 13,584,824 (GRCm39)		probably null	Het
Xirp2	T	A	2: 67,343,805 (GRCm39)	N2015K	probably damaging	Het
Zfp160	T	G	17: 21,240,995 (GRCm39)	M21R	possibly damaging	Het

Other mutations in Stk16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01992:Stk16	APN	1	75,189,835 (GRCm39)	missense	probably benign
IGL02993:Stk16	APN	1	75,189,648 (GRCm39)	missense	probably damaging	1.00
IGL03215:Stk16	APN	1	75,189,236 (GRCm39)	splice site	probably benign
R5699:Stk16	UTSW	1	75,190,248 (GRCm39)	missense	probably damaging	1.00
R7445:Stk16	UTSW	1	75,190,296 (GRCm39)	missense	probably damaging	1.00
R7737:Stk16	UTSW	1	75,187,995 (GRCm39)	missense	probably damaging	1.00
R7878:Stk16	UTSW	1	75,189,589 (GRCm39)	nonsense	probably null
R8699:Stk16	UTSW	1	75,188,682 (GRCm39)	missense	probably benign	0.12
R9456:Stk16	UTSW	1	75,187,804 (GRCm39)	critical splice donor site	probably benign

Predicted Primers

PCR Primer
(F):5'- CGCAGTGCCAAGAGAATTG -3'
(R):5'- AAAGTTCAGGTGCCCGGTAG -3'

Sequencing Primer
(F):5'- AGAATTGGGGTTTCTCTGCAC -3'
(R):5'- TAGGAGATGGTGCACCGCTG -3'

Posted On

2016-08-04