Mutagenetix > Incidental Mutation

Incidental Mutation 'R6636:Stk17b'

525423

Institutional Source

Beutler Lab

Gene Symbol

Stk17b

Ensembl Gene

ENSMUSG00000026094

Gene Name

serine/threonine kinase 17b (apoptosis-inducing)

Synonyms

3110009A03Rik, Drak2

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R6636 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53755506-53785224 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53761088 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 244 (Y244N)

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: Y244N

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

SMART Domains

Protein: ENSMUSP00000027263
Gene: ENSMUSG00000026094
AA Change: Y244N

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.7%
20x: 92.8%

Validation Efficiency

98% (41/42)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	A	G	15: 64,787,402	V513A	probably damaging	Het
Adgrl4	G	A	3: 151,517,773	W621*	probably null	Het
Ap4m1	A	G	5: 138,172,175		probably benign	Het
Atp6v1b2	T	C	8: 69,101,374	Y68H	probably damaging	Het
AY761185	T	A	8: 20,944,540		probably null	Het
C3ar1	T	C	6: 122,851,054	D68G	probably damaging	Het
Cdh10	A	T	15: 18,985,173	I308F	probably damaging	Het
Coq8a	A	T	1: 180,178,987	S112T	probably benign	Het
Diexf	A	T	1: 193,113,767	F197I	probably damaging	Het
Dmgdh	A	T	13: 93,709,198	E453D	probably benign	Het
Fryl	C	A	5: 73,133,312	R83L	probably benign	Het
Gm4861	C	T	3: 137,550,999		probably null	Het
Gnai1	T	C	5: 18,273,474	D231G	probably damaging	Het
Hfe	C	G	13: 23,706,795	E120D	possibly damaging	Het
Hfe	T	C	13: 23,706,796	E120G	possibly damaging	Het
Hgd	A	G	16: 37,615,374	N149S	possibly damaging	Het
Kcnb1	T	C	2: 167,105,854	D358G	probably damaging	Het
Lama2	C	A	10: 27,124,568	V1653L	probably benign	Het
Lamc1	A	T	1: 153,241,975	I947N	possibly damaging	Het
Lamp3	A	G	16: 19,701,233	F67L	probably benign	Het
Ltbp2	T	C	12: 84,875,838	I132V	probably benign	Het
Muc4	C	T	16: 32,753,964	P1280L	probably benign	Het
Muc5ac	T	C	7: 141,818,605	Y2659H	possibly damaging	Het
Nmbr	T	C	10: 14,770,234	S168P	probably benign	Het
Nsl1	A	G	1: 191,075,127	T168A	probably benign	Het
Olfr1197	T	C	2: 88,728,841	I253V	probably benign	Het
Olfr130	G	A	17: 38,067,224	D18N	probably damaging	Het
Olfr1467	T	C	19: 13,365,225	V199A	probably benign	Het
Olfr284	A	G	15: 98,340,950	F13S	probably benign	Het
Pde1c	A	C	6: 56,180,102	V191G	probably damaging	Het
Proc	T	A	18: 32,123,760	I285F	probably benign	Het
R3hdm1	GAA	GAAA	1: 128,162,811		probably null	Het
Rsf1	G	GACGGCGGCT	7: 97,579,909		probably benign	Homo
Spa17	A	T	9: 37,611,974	S6T	probably benign	Het
Spp1	T	C	5: 104,440,530	V267A	possibly damaging	Het
Tal1	A	G	4: 115,068,592	N286S	probably damaging	Het
Tgm7	T	A	2: 121,101,090	R197S	probably damaging	Het
Tmcc3	T	A	10: 94,578,424	V27E	probably benign	Het
Topaz1	A	T	9: 122,749,786	Q587L	probably benign	Het
Trim33	C	T	3: 103,353,719	A1061V	probably damaging	Het
Ttll1	C	G	15: 83,499,946	W160S	probably damaging	Het
Wnt7a	A	G	6: 91,394,558	Y141H	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
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
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'- TGCGTCTTTAGCAGGCACAC -3'
(R):5'- TCTGTGGTACAGTAATCTCTAGAAG -3'

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

Posted On

2018-06-22