Mutagenetix > Incidental Mutation

Incidental Mutation 'R6924:Stk17b'

539765

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

Is this an essential gene?

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

Stock #

R6924 (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 53761059 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 253 (D253E)

Ref Sequence

ENSEMBL: ENSMUSP00000027263 (fasta)

Gene Model

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

AlphaFold

Q8BG48

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027263
AA Change: D253E

PolyPhen 2 Score 0.537 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000027263
Gene: ENSMUSG00000026094
AA Change: D253E

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

Meta Mutation Damage Score

0.0698

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

98% (54/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	C	4: 39,450,884	H30P	probably damaging	Het
Abhd6	A	T	14: 8,049,850	H213L	possibly damaging	Het
Adam22	T	A	5: 8,367,322	N40I	possibly damaging	Het
Ankrd42	A	G	7: 92,582,016		probably benign	Het
Arhgap40	C	T	2: 158,527,146	R63C	probably benign	Het
Atf7ip	T	G	6: 136,559,757		probably null	Het
Atg7	T	C	6: 114,709,211		probably null	Het
Car6	A	C	4: 150,189,256		probably null	Het
Carmil1	A	T	13: 24,075,684	C302*	probably null	Het
Ccdc117	A	T	11: 5,534,255	M195K	probably benign	Het
Cep95	T	C	11: 106,811,197	M383T	probably damaging	Het
Col20a1	A	G	2: 180,996,850	E419G	probably damaging	Het
Cyp2d9	C	G	15: 82,455,212	R272G	probably damaging	Het
Dhx57	A	T	17: 80,238,815	M1380K	possibly damaging	Het
Dnah14	A	G	1: 181,627,952	S881G	probably benign	Het
Fam126a	T	C	5: 23,986,135		probably null	Het
Fcgbp	T	A	7: 28,093,823	I1084N	probably benign	Het
Fgf17	A	T	14: 70,641,541	C21*	probably null	Het
Gemin4	A	G	11: 76,212,336	L533P	probably damaging	Het
Gkn3	T	C	6: 87,388,802	R12G	probably benign	Het
Gpr161	G	T	1: 165,321,619	R519L	possibly damaging	Het
Grin2a	A	G	16: 9,663,228	V535A	possibly damaging	Het
Gys1	G	A	7: 45,443,635		probably null	Het
Hfm1	C	T	5: 106,850,410		probably null	Het
Hmcn2	T	A	2: 31,350,505		probably null	Het
Hnrnpul2	T	C	19: 8,831,509	Y738H	unknown	Het
Igsf23	A	G	7: 19,941,759	S141P	possibly damaging	Het
Lamc3	A	C	2: 31,938,069	M1423L	probably benign	Het
Lcmt2	T	C	2: 121,140,003	T200A	probably benign	Het
Lgr4	T	C	2: 110,012,439	V899A	probably damaging	Het
Macf1	T	A	4: 123,527,352	R36S	possibly damaging	Het
Mrgprb8	A	G	7: 48,389,123	K181E	possibly damaging	Het
Muc2	G	A	7: 141,697,834	V786M	possibly damaging	Het
Nacc2	T	C	2: 26,090,029	T132A	probably damaging	Het
Nsmce2	T	A	15: 59,378,925	I15K	probably damaging	Het
Olfr726	A	G	14: 50,083,850	I277T	possibly damaging	Het
Olfr9	T	G	10: 128,990,091	Y60D	probably damaging	Het
Otoa	A	T	7: 121,131,501		probably null	Het
Otogl	A	G	10: 107,808,641	I1248T	probably damaging	Het
Ppp1r17	T	A	6: 56,026,022	D32E	probably damaging	Het
Relt	A	C	7: 100,847,261	V427G	probably damaging	Het
Ric1	T	A	19: 29,569,388	V256D	probably damaging	Het
Samhd1	T	C	2: 157,109,483	T445A	probably benign	Het
Sepsecs	T	C	5: 52,664,304	I189V	probably benign	Het
Shroom3	T	A	5: 92,964,403	D1793E	probably damaging	Het
Sim1	C	T	10: 50,908,539	T137I	probably benign	Het
Stmnd1	T	C	13: 46,299,493	V215A	probably benign	Het
Tcl1	A	G	12: 105,218,756	L65P	probably damaging	Het
Tiam2	A	C	17: 3,507,795	K1231N	probably damaging	Het
Tm9sf3	T	C	19: 41,218,278	Y476C	probably damaging	Het
Trim63	T	C	4: 134,321,261	S194P	probably damaging	Het
Ugt1a10	T	A	1: 88,055,657	I59N	probably damaging	Het
Vmn2r65	A	G	7: 84,963,990	F7S	probably benign	Het
Zfp775	T	A	6: 48,619,655	H154Q	probably damaging	Het
Zfp804b	C	T	5: 6,769,902	V1018I	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
R6636:Stk17b	UTSW	1	53761088	missense	probably damaging	1.00
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'- GAGAATCTCGCAACAGTTTCCAAAC -3'
(R):5'- AACTTTGCCAGACTTGTGGAC -3'

Sequencing Primer
(F):5'- AGCCATAAGTGACATTTTGGGTAG -3'
(R):5'- GCCAGACTTGTGGACTATTAATTG -3'

Posted On

2018-11-06