Mutagenetix > Incidental Mutation

Incidental Mutation 'R1576:Stk17b'

171140

Institutional Source

Beutler Lab

Gene Symbol

Stk17b

Ensembl Gene

ENSMUSG00000026094

Gene Name

serine/threonine kinase 17b (apoptosis-inducing)

Synonyms

3110009A03Rik, Drak2

MMRRC Submission

039614-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1576 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53755506-53785224 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 53757590 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 339 (D339E)

Ref Sequence

ENSEMBL: ENSMUSP00000027263 (fasta)

Gene Model

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

AlphaFold

Q8BG48

Predicted Effect

probably damaging
Transcript: ENSMUST00000027263
AA Change: D339E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027263
Gene: ENSMUSG00000026094
AA Change: D339E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187066

Meta Mutation Damage Score

0.0803

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.1%

Validation Efficiency

100% (49/49)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap3m2	G	A	8: 22,808,467		probably benign	Het
Apol11a	T	A	15: 77,516,931	I206N	probably damaging	Het
Arfgap3	A	G	15: 83,313,563	S331P	possibly damaging	Het
Arhgef16	A	C	4: 154,291,312	L75R	probably damaging	Het
Cfi	T	C	3: 129,873,050	V474A	probably damaging	Het
Dhx8	T	C	11: 101,752,319	V739A	probably damaging	Het
Dpy19l2	T	A	9: 24,584,502	H640L	probably benign	Het
Eif4g3	T	A	4: 138,096,870	M57K	probably damaging	Het
Emilin2	A	G	17: 71,255,117		probably null	Het
Epc1	T	C	18: 6,452,366	E281G	possibly damaging	Het
Fancd2	G	T	6: 113,578,405	S1125I	probably damaging	Het
Fh1	G	A	1: 175,607,819	P366L	probably null	Het
Gata3	A	T	2: 9,863,196	S316T	probably damaging	Het
Hmcn1	A	T	1: 150,657,241	S3064T	possibly damaging	Het
Inpp5d	A	T	1: 87,669,685	T193S	probably benign	Het
Inpp5d	A	T	1: 87,681,558	I277F	probably damaging	Het
Itga5	T	C	15: 103,351,617	D616G	probably damaging	Het
Jade1	T	A	3: 41,591,807	V89E	probably damaging	Het
Lamb2	T	C	9: 108,480,307	S81P	probably damaging	Het
Lrrc19	G	A	4: 94,639,353	P207L	probably damaging	Het
Maea	A	G	5: 33,362,696	D147G	probably damaging	Het
Muc6	T	A	7: 141,634,524	E2767V	possibly damaging	Het
Myom2	A	G	8: 15,084,556	Y453C	probably damaging	Het
Naip2	A	T	13: 100,155,021	D1136E	probably benign	Het
Naip2	G	A	13: 100,155,029		probably benign	Het
Nap1l1	A	G	10: 111,494,820	D362G	probably damaging	Het
Nap1l4	C	T	7: 143,538,216		probably null	Het
Nudt21	A	C	8: 94,028,833		probably null	Het
Nufip1	A	G	14: 76,134,870	N475D	probably benign	Het
Pcdhb8	A	G	18: 37,356,703	D478G	probably damaging	Het
Pla2g4d	A	G	2: 120,284,167	S28P	probably damaging	Het
Polr2j	C	A	5: 136,120,028	N29K	probably damaging	Het
Ppp2r2a	A	G	14: 67,038,869		probably benign	Het
Ptprk	A	G	10: 28,551,651	D742G	probably damaging	Het
Pum2	A	G	12: 8,713,524	D227G	probably benign	Het
Rfxank	C	A	8: 70,134,303	R221L	possibly damaging	Het
Shank3	C	A	15: 89,503,663	Q317K	probably benign	Het
Slc22a17	A	G	14: 54,907,990	V460A	probably damaging	Het
Slc39a11	G	T	11: 113,559,535	D41E	probably damaging	Het
Spag17	T	C	3: 99,939,363	S68P	possibly damaging	Het
Sstr5	C	T	17: 25,491,298	C319Y	possibly damaging	Het
Tagln2	A	G	1: 172,505,221	D25G	probably benign	Het
Ttn	C	T	2: 76,794,850	V13417I	probably benign	Het
Vps50	A	G	6: 3,545,568	E334G	possibly damaging	Het
Zfp316	T	C	5: 143,264,094	E138G	unknown	Het
Zfp879	T	A	11: 50,833,549	T227S	probably benign	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
IGL02827:Stk17b	APN	1	53776542	missense	probably benign	0.03
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
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

Predicted Primers

PCR Primer
(F):5'- TGACAGCATTTCCCCAAACAGATTCTC -3'
(R):5'- TCTCTGCTTTCTGCCAAAGGAAAAGAC -3'

Sequencing Primer
(F):5'- GGTATAGGGCTTACCTTAGAACC -3'
(R):5'- AGACCAACAGCAGAATCCTG -3'

Posted On

2014-04-13