Mutagenetix > Incidental Mutation

Incidental Mutation 'R5621:Stk17b'

441540

Institutional Source

Beutler Lab

Gene Symbol

Stk17b

Ensembl Gene

ENSMUSG00000026094

Gene Name

serine/threonine kinase 17b (apoptosis-inducing)

Synonyms

3110009A03Rik, Drak2

MMRRC Submission

043279-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R5621 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53755506-53785224 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 53771784 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 54 (S54*)

Ref Sequence

ENSEMBL: ENSMUSP00000027263 (fasta)

Gene Model

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

AlphaFold

Q8BG48

Predicted Effect

probably null
Transcript: ENSMUST00000027263
AA Change: S54*

SMART Domains

Protein: ENSMUSP00000027263
Gene: ENSMUSG00000026094
AA Change: S54*

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

0.9755

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (63/64)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	T	G	17: 84,695,993	L417R	probably damaging	Het
Als2	A	G	1: 59,191,890	V854A	probably benign	Het
Bbox1	C	T	2: 110,292,523	W140*	probably null	Het
Ccdc28a	A	T	10: 18,216,268	N110K	probably benign	Het
Chrna6	C	T	8: 27,407,040	E270K	probably damaging	Het
Cilp	A	G	9: 65,278,791	K723E	possibly damaging	Het
Ciz1	C	A	2: 32,371,741	A455E	probably damaging	Het
Csmd3	T	G	15: 48,313,978	H388P	possibly damaging	Het
Dnajc8	A	G	4: 132,553,252		probably benign	Het
Dnase1	G	T	16: 4,039,118	C164F	probably benign	Het
Dync2h1	A	T	9: 7,120,909	I2126K	possibly damaging	Het
Epha4	G	T	1: 77,515,049		probably benign	Het
Fer1l6	T	C	15: 58,558,326	C201R	probably damaging	Het
Fgf8	T	C	19: 45,742,382	Y68C	probably benign	Het
Gabrb1	A	T	5: 72,108,728	I243F	probably damaging	Het
Gm13762	T	C	2: 88,973,466	I142V	probably benign	Het
Gm9774	G	A	3: 92,428,357	A346V	probably damaging	Het
Gpam	A	C	19: 55,079,260	S484A	probably damaging	Het
Hectd2	T	A	19: 36,618,751	N745K	probably damaging	Het
Hspa13	T	C	16: 75,766,763		probably benign	Het
Ints2	A	G	11: 86,242,947	F426L	probably benign	Het
Ism1	A	G	2: 139,678,721	T18A	probably damaging	Het
Itih2	T	A	2: 10,102,805	Q650L	probably benign	Het
Jmjd4	T	C	11: 59,450,393	F50S	probably damaging	Het
Kif5b	T	C	18: 6,226,883	N125S	probably benign	Het
Lonp1	G	C	17: 56,620,263	A330G	probably benign	Het
Lrfn1	A	G	7: 28,466,836	I552V	probably damaging	Het
Mcph1	A	G	8: 18,632,170	E441G	probably damaging	Het
Mdn1	T	A	4: 32,716,371	H2144Q	possibly damaging	Het
Mms19	A	G	19: 41,966,313	S56P	probably benign	Het
Mrgprb3	A	G	7: 48,643,368	I145T	probably benign	Het
Myh11	G	A	16: 14,244,855	T287I	probably damaging	Het
Npas2	A	G	1: 39,359,713	T730A	probably benign	Het
Olfr1229	G	A	2: 89,282,353	P281L	probably damaging	Het
Pcdhgb1	A	G	18: 37,682,169	E571G	possibly damaging	Het
Pcx	T	A	19: 4,619,167	V731E	possibly damaging	Het
Pgm1	T	A	5: 64,112,038	Y489*	probably null	Het
Rrp12	T	C	19: 41,880,417	T541A	probably benign	Het
Ryr3	C	T	2: 112,900,984	W660*	probably null	Het
Sertad2	T	A	11: 20,648,061	F86I	possibly damaging	Het
Slc11a1	G	A	1: 74,380,906	G191D	probably damaging	Het
Slc22a22	G	T	15: 57,259,151	F143L	probably benign	Het
Slc22a28	C	T	19: 8,071,011	V424I	probably benign	Het
Slc7a11	T	G	3: 50,438,875	K106N	probably damaging	Het
Smgc	A	T	15: 91,844,420	D121V	probably damaging	Het
Sphk1	C	T	11: 116,536,366		probably benign	Het
Spock3	A	T	8: 63,144,006	T118S	probably benign	Het
Sycp2	A	G	2: 178,381,918	I435T	probably benign	Het
Tm2d3	G	T	7: 65,701,618	D207Y	probably damaging	Het
Top2b	A	T	14: 16,387,280	N123Y	probably damaging	Het
Unc80	A	G	1: 66,638,043	T2044A	possibly damaging	Het
Usp6nl	A	G	2: 6,440,432	S407G	probably benign	Het
Vmn1r195	G	A	13: 22,278,389	V10I	probably benign	Het
Zfp292	C	T	4: 34,811,703	R447H	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
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
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'- GACATTCTGCATCGTATTCCAC -3'
(R):5'- GCCTACACTTACACAGTAACATTGTAG -3'

Sequencing Primer
(F):5'- CTGCATCGTATTCCACCAATTAC -3'
(R):5'- CTAATGGCACAGATACGTG -3'

Posted On

2016-11-08