Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02993:Stk16'

407028

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stk16

Ensembl Gene

ENSMUSG00000026201

Gene Name

serine/threonine kinase 16

Synonyms

EDPK, Embryo-Derived Protein Kinase, PKL12, Krct

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02993

Quality Score

Status

Chromosome

Chromosomal Location

75187482-75192250 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 75189648 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 69 (Q69K)

Ref Sequence

ENSEMBL: ENSMUSP00000139998 (fasta)

Gene Model

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

AlphaFold

O88697

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027401
AA Change: Q187K

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000027401
Gene: ENSMUSG00000026201
AA Change: Q187K

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: ENSMUST00000184844

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139627

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145144

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132507

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156012

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186492

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186350

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142052

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

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: 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

possibly damaging
Transcript: ENSMUST00000191108
AA Change: Q187K

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

SMART Domains

Protein: ENSMUSP00000139846
Gene: ENSMUSG00000026201
AA Change: Q187K

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

probably damaging
Transcript: ENSMUST00000188460
AA Change: Q69K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139998
Gene: ENSMUSG00000026201
AA Change: Q69K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000189698
AA Change: Q187K

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140329
Gene: ENSMUSG00000026201
AA Change: Q187K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189242

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187103

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

Predicted Effect

probably benign
Transcript: ENSMUST00000186971

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd3	A	C	3: 121,567,659 (GRCm39)	I434S	probably benign	Het
Actr2	C	T	11: 20,022,514 (GRCm39)	R319Q	probably damaging	Het
Atp13a5	G	T	16: 29,112,322 (GRCm39)	Y606*	probably null	Het
Baiap3	C	T	17: 25,469,056 (GRCm39)		probably null	Het
Cers2	A	G	3: 95,227,396 (GRCm39)	Y8C	probably benign	Het
Ces1g	T	A	8: 94,043,707 (GRCm39)	M411L	probably benign	Het
Chd6	A	G	2: 160,894,304 (GRCm39)		probably benign	Het
Cyp2d40	C	A	15: 82,645,722 (GRCm39)	K94N	probably benign	Het
Ddx51	T	C	5: 110,803,487 (GRCm39)	V323A	possibly damaging	Het
Dock1	G	A	7: 134,346,027 (GRCm39)	V190I	probably benign	Het
Evc2	A	G	5: 37,576,501 (GRCm39)	T1042A	probably benign	Het
Fat4	T	A	3: 39,011,304 (GRCm39)	S2135T	probably damaging	Het
Gpat2	T	C	2: 127,269,486 (GRCm39)	F46S	probably damaging	Het
Klhl38	T	A	15: 58,185,851 (GRCm39)	K293*	probably null	Het
Map4k4	T	C	1: 40,053,348 (GRCm39)	I916T	probably damaging	Het
Nrap	T	A	19: 56,333,965 (GRCm39)	K964M	probably damaging	Het
Osbpl5	T	C	7: 143,253,071 (GRCm39)		probably null	Het
Perm1	A	G	4: 156,302,236 (GRCm39)	Q260R	probably benign	Het
Ralgapb	T	A	2: 158,279,314 (GRCm39)	N133K	possibly damaging	Het
Scart2	A	G	7: 139,876,486 (GRCm39)	T537A	probably benign	Het
Slfn9	T	C	11: 82,872,022 (GRCm39)	S905G	probably benign	Het
Spata31g1	T	C	4: 42,971,719 (GRCm39)	Y351H	probably damaging	Het
Ssh2	C	T	11: 77,344,370 (GRCm39)	T785I	probably damaging	Het
Stk36	T	C	1: 74,661,446 (GRCm39)	L491P	probably benign	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tcp11	T	C	17: 28,289,490 (GRCm39)	N194D	probably damaging	Het
Trio	C	A	15: 27,830,325 (GRCm39)		probably benign	Het
Ugt2b1	A	G	5: 87,069,850 (GRCm39)	V297A	possibly damaging	Het
Ugt2b5	T	G	5: 87,285,091 (GRCm39)	H282P	probably damaging	Het
Usp53	A	G	3: 122,727,492 (GRCm39)	M1030T	probably damaging	Het
Vmn1r234	T	A	17: 21,449,965 (GRCm39)	I293N	probably damaging	Het
Vmn2r57	T	A	7: 41,077,498 (GRCm39)	T223S	probably benign	Het
Wdr20	G	T	12: 110,760,742 (GRCm39)	E543*	probably null	Het
Zbtb25	T	A	12: 76,396,191 (GRCm39)	N344Y	probably damaging	Het
Zcchc2	T	C	1: 105,957,898 (GRCm39)	F790L	probably 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
IGL03215:Stk16	APN	1	75,189,236 (GRCm39)	splice site	probably benign
R5342:Stk16	UTSW	1	75,189,609 (GRCm39)	missense	probably benign	0.31
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

Posted On

2016-08-02