Mutagenetix > Incidental Mutations

Incidental Mutation 'R2033:Stk17b'

221432

Institutional Source

Beutler Lab

Gene Symbol

Stk17b

Ensembl Gene

ENSMUSG00000026094

Gene Name

serine/threonine kinase 17b (apoptosis-inducing)

Synonyms

3110009A03Rik, Drak2

MMRRC Submission

040040-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R2033 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53755506-53785224 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53761076 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 248 (S248P)

Ref Sequence

ENSEMBL: ENSMUSP00000027263 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000027263
AA Change: S248P

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

SMART Domains

Protein: ENSMUSP00000027263
Gene: ENSMUSG00000026094
AA Change: S248P

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

0.3341

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.5%

Validation Efficiency

96% (53/55)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	T	C	4: 144,456,383	T172A	probably benign	Het
Atp6v1c1	T	C	15: 38,673,966		probably null	Het
Bpifc	G	A	10: 86,000,632	T3I	possibly damaging	Het
Car12	A	G	9: 66,717,558		probably null	Het
Ccrl2	A	G	9: 111,055,870	F187L	possibly damaging	Het
Cep250	G	A	2: 155,970,892	R544H	probably damaging	Het
Col4a3	T	G	1: 82,718,011		probably benign	Het
Cyb5r2	T	C	7: 107,756,907		probably null	Het
Elfn2	A	G	15: 78,671,896	V817A	probably damaging	Het
Eln	C	T	5: 134,710,106		probably null	Het
Eml5	T	C	12: 98,791,386	E1896G	possibly damaging	Het
G530012D18Rik	CACAGA	CA	1: 85,577,154		probably null	Het
Galnt11	C	T	5: 25,247,538	T16I	probably damaging	Het
Gars	C	T	6: 55,077,723	H672Y	probably benign	Het
Gpr155	T	A	2: 73,348,182	H726L	probably benign	Het
Inpp1	T	A	1: 52,790,173	N229I	possibly damaging	Het
Isg20	A	C	7: 78,916,533	I77L	probably damaging	Het
Kit	G	C	5: 75,637,317	D422H	possibly damaging	Het
Lonp2	A	G	8: 86,708,942	E602G	possibly damaging	Het
Mink1	T	C	11: 70,612,508	V1143A	probably damaging	Het
Myh6	A	C	14: 54,963,645	L120R	probably benign	Het
Myo18a	T	A	11: 77,843,099		probably null	Het
Nphs2	T	C	1: 156,323,738	V249A	probably damaging	Het
Npsr1	A	G	9: 24,313,352	K342E	probably benign	Het
Nrros	C	T	16: 32,144,157	W311*	probably null	Het
Nudt18	G	T	14: 70,579,616	G162V	possibly damaging	Het
Odam	A	G	5: 87,892,419	D248G	probably benign	Het
Olfr1224-ps1	A	G	2: 89,157,154	V7A	probably damaging	Het
Olfr147	G	T	9: 38,403,373	M166I	probably damaging	Het
Olfr390	T	C	11: 73,787,438	S167P	probably benign	Het
Olfr557	A	G	7: 102,699,162	E308G	probably benign	Het
Olfr572	T	C	7: 102,928,408	V260A	probably benign	Het
Pde4b	G	T	4: 102,605,295	D723Y	probably benign	Het
Pdzrn3	T	C	6: 101,150,954	E917G	probably damaging	Het
Ppip5k1	C	T	2: 121,337,627	R715H	probably damaging	Het
Prkdc	T	A	16: 15,687,352		probably benign	Het
Ptp4a3	A	G	15: 73,753,769	Y21C	probably damaging	Het
Ptprk	C	A	10: 28,592,767		probably benign	Het
Rfesd	C	A	13: 76,002,872		probably null	Het
Rtel1	A	T	2: 181,351,863	K592*	probably null	Het
Siah1a	T	A	8: 86,725,270	K195N	probably damaging	Het
Slc5a5	G	T	8: 70,888,587	D369E	probably damaging	Het
Slc6a6	A	T	6: 91,724,910	I100F	probably benign	Het
Smtn	T	C	11: 3,517,781	I913V	probably benign	Het
Sun1	C	T	5: 139,225,438	H149Y	probably damaging	Het
Taar5	T	C	10: 23,971,094	I130T	possibly damaging	Het
Tmem132b	G	T	5: 125,749,289	V448F	probably damaging	Het
Tmem94	C	A	11: 115,794,328	N888K	possibly damaging	Het
Trpc1	T	C	9: 95,706,843	N742S	probably damaging	Het
Ttbk2	T	C	2: 120,806,849	T112A	probably damaging	Het
Tubb2a	A	T	13: 34,075,456	L117Q	probably damaging	Het
Vmn1r60	T	A	7: 5,544,820	M94L	probably benign	Het
Vmn2r83	A	G	10: 79,491,819	T754A	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
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
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	unclassified	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

Predicted Primers

PCR Primer
(F):5'- TGCGTCTTTAGCAGGCACAC -3'
(R):5'- TCTGTGGTACAGTAATCTCTAGAAG -3'

Sequencing Primer
(F):5'- GTCTTTAGCAGGCACACATTATTTGG -3'
(R):5'- AAACTTTGCCAGACTTGTGGAC -3'

Posted On

2014-08-25