Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02827:Stk17b'

361259

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stk17b

Ensembl Gene

ENSMUSG00000026094

Gene Name

serine/threonine kinase 17b (apoptosis-inducing)

Synonyms

3110009A03Rik, Drak2

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

IGL02827

Quality Score

Status

Chromosome

Chromosomal Location

53755506-53785224 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53776542 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 33 (T33A)

Ref Sequence

ENSEMBL: ENSMUSP00000027263 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027263] [ENSMUST00000185920]

AlphaFold

Q8BG48

Predicted Effect

probably benign
Transcript: ENSMUST00000027263
AA Change: T33A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000027263
Gene: ENSMUSG00000026094
AA Change: T33A

Domain	Start	End	E-Value	Type
S_TKc	33	293	5.77e-79	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000185920

SMART Domains

Protein: ENSMUSP00000139880
Gene: ENSMUSG00000026094

Domain	Start	End	E-Value	Type
S_TKc	1	93	5.8e-5	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice display abnormal T cell numbers, increased T cell proliferation, abnormal cytokine physiology, and decreased susceptibility to experimental autoimmune encephalomyelitis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 80,009,865	S1554P	probably damaging	Het
Actn2	A	T	13: 12,275,199	L152Q	probably damaging	Het
Afg3l2	T	C	18: 67,425,945	I369V	probably damaging	Het
Aqp6	G	A	15: 99,603,011	G199S	probably damaging	Het
Asgr2	A	G	11: 70,096,897	I74V	probably benign	Het
Cebpz	T	C	17: 78,929,331	R702G	probably damaging	Het
Cers1	C	T	8: 70,321,527	P145S	probably damaging	Het
Ddx21	T	C	10: 62,598,374	K202R	probably benign	Het
Gm13119	C	T	4: 144,363,761	A457V	probably damaging	Het
Gphn	A	T	12: 78,609,220	D407V	probably damaging	Het
Hnf1b	A	G	11: 83,855,926	K123E	probably damaging	Het
Ifitm10	T	C	7: 142,328,580	D151G	unknown	Het
Ifna14	T	A	4: 88,571,364	K145N	probably benign	Het
Lamc2	C	T	1: 153,139,781	C602Y	probably damaging	Het
Mrps25	T	C	6: 92,175,182	E119G	probably benign	Het
Olfr1331	A	T	4: 118,868,960	M60L	probably damaging	Het
Olfr1366	A	G	13: 21,537,358	S216P	probably benign	Het
Pgm5	C	A	19: 24,709,295	R516L	probably benign	Het
Rmnd5b	A	G	11: 51,628,022	L48P	possibly damaging	Het
Samd4b	G	A	7: 28,414,121	R140C	probably damaging	Het
Sema3d	T	C	5: 12,585,118	I717T	probably benign	Het
Sh3tc2	G	A	18: 62,013,159	S1203N	probably benign	Het
Smpdl3a	A	G	10: 57,802,496	T132A	probably damaging	Het
Stard13	T	C	5: 151,063,126	I188M	probably benign	Het
Stxbp3	A	T	3: 108,809,895	I264N	probably damaging	Het
Tmem60	T	A	5: 20,886,624	F129Y	probably damaging	Het
Trpm1	A	G	7: 64,219,160	D404G	probably null	Het
Unc79	A	C	12: 103,074,846	S713R	possibly damaging	Het
Uox	A	C	3: 146,597,196		probably benign	Het
Vmn2r68	T	C	7: 85,237,592	D38G	probably damaging	Het
Vps13a	T	C	19: 16,641,634	D2856G	possibly damaging	Het
Vsig10l	T	C	7: 43,464,869	L205P	probably damaging	Het

Other mutations in Stk17b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00722:Stk17b	APN	1	53764140	missense	probably damaging	0.99
IGL00767:Stk17b	APN	1	53764023	splice site	probably benign
IGL01012:Stk17b	APN	1	53761037	missense	probably benign	0.06
IGL01431:Stk17b	APN	1	53765915	splice site	probably benign
IGL01914:Stk17b	APN	1	53761067	missense	probably damaging	0.98
IGL02236:Stk17b	APN	1	53764088	missense	probably damaging	1.00
R0013:Stk17b	UTSW	1	53764132	missense	probably benign	0.36
R0545:Stk17b	UTSW	1	53762583	splice site	probably benign
R0831:Stk17b	UTSW	1	53757492	missense	probably damaging	1.00
R1035:Stk17b	UTSW	1	53762599	missense	probably benign	0.22
R1375:Stk17b	UTSW	1	53765947	missense	possibly damaging	0.83
R1576:Stk17b	UTSW	1	53757590	missense	probably damaging	1.00
R1809:Stk17b	UTSW	1	53765981	missense	possibly damaging	0.80
R1988:Stk17b	UTSW	1	53761082	missense	probably damaging	1.00
R2033:Stk17b	UTSW	1	53761076	missense	probably damaging	1.00
R2105:Stk17b	UTSW	1	53776605	missense	probably benign	0.01
R2255:Stk17b	UTSW	1	53776572	missense	probably benign	0.00
R4395:Stk17b	UTSW	1	53764115	missense	probably damaging	0.98
R4521:Stk17b	UTSW	1	53764038	missense	probably damaging	1.00
R4777:Stk17b	UTSW	1	53771708	missense	probably damaging	1.00
R4871:Stk17b	UTSW	1	53757534	missense	probably benign	0.14
R4892:Stk17b	UTSW	1	53771611	missense	probably damaging	0.99
R4999:Stk17b	UTSW	1	53761147	splice site	probably null
R5122:Stk17b	UTSW	1	53776558	missense	probably damaging	1.00
R5621:Stk17b	UTSW	1	53771784	nonsense	probably null
R6636:Stk17b	UTSW	1	53761088	missense	probably damaging	1.00
R6924:Stk17b	UTSW	1	53761059	missense	possibly damaging	0.54
R7283:Stk17b	UTSW	1	53757515	missense	probably benign
R7322:Stk17b	UTSW	1	53765945	missense	probably benign	0.16
R7671:Stk17b	UTSW	1	53766000	missense	probably damaging	0.99
R8984:Stk17b	UTSW	1	53757625	missense	probably benign	0.05
R9476:Stk17b	UTSW	1	53757739	missense	probably damaging	1.00
R9510:Stk17b	UTSW	1	53757739	missense	probably damaging	1.00

Posted On

2015-12-18