Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R2033 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53794671-53824374 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53800235 bp (GRCm39)

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]

AlphaFold

Q8BG48

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: 144,182,953 (GRCm39)	T172A	probably benign	Het
Atp6v1c1	T	C	15: 38,674,210 (GRCm39)		probably null	Het
Bpifc	G	A	10: 85,836,496 (GRCm39)	T3I	possibly damaging	Het
Car12	A	G	9: 66,624,840 (GRCm39)		probably null	Het
Ccrl2	A	G	9: 110,884,938 (GRCm39)	F187L	possibly damaging	Het
Cep250	G	A	2: 155,812,812 (GRCm39)	R544H	probably damaging	Het
Col4a3	T	G	1: 82,695,732 (GRCm39)		probably benign	Het
Cyb5r2	T	C	7: 107,356,114 (GRCm39)		probably null	Het
Elfn2	A	G	15: 78,556,096 (GRCm39)	V817A	probably damaging	Het
Eln	C	T	5: 134,738,960 (GRCm39)		probably null	Het
Eml5	T	C	12: 98,757,645 (GRCm39)	E1896G	possibly damaging	Het
G530012D18Rik	CACAGA	CA	1: 85,504,875 (GRCm39)		probably null	Het
Galnt11	C	T	5: 25,452,536 (GRCm39)	T16I	probably damaging	Het
Gars1	C	T	6: 55,054,708 (GRCm39)	H672Y	probably benign	Het
Gpr155	T	A	2: 73,178,526 (GRCm39)	H726L	probably benign	Het
Inpp1	T	A	1: 52,829,332 (GRCm39)	N229I	possibly damaging	Het
Isg20	A	C	7: 78,566,281 (GRCm39)	I77L	probably damaging	Het
Kit	G	C	5: 75,797,977 (GRCm39)	D422H	possibly damaging	Het
Lonp2	A	G	8: 87,435,570 (GRCm39)	E602G	possibly damaging	Het
Mink1	T	C	11: 70,503,334 (GRCm39)	V1143A	probably damaging	Het
Myh6	A	C	14: 55,201,102 (GRCm39)	L120R	probably benign	Het
Myo18a	T	A	11: 77,733,925 (GRCm39)		probably null	Het
Nphs2	T	C	1: 156,151,308 (GRCm39)	V249A	probably damaging	Het
Npsr1	A	G	9: 24,224,648 (GRCm39)	K342E	probably benign	Het
Nrros	C	T	16: 31,962,975 (GRCm39)	W311*	probably null	Het
Nudt18	G	T	14: 70,817,056 (GRCm39)	G162V	possibly damaging	Het
Odam	A	G	5: 88,040,278 (GRCm39)	D248G	probably benign	Het
Or1e30	T	C	11: 73,678,264 (GRCm39)	S167P	probably benign	Het
Or4c119	A	G	2: 88,987,498 (GRCm39)	V7A	probably damaging	Het
Or51d1	A	G	7: 102,348,369 (GRCm39)	E308G	probably benign	Het
Or51h5	T	C	7: 102,577,615 (GRCm39)	V260A	probably benign	Het
Or8b3	G	T	9: 38,314,669 (GRCm39)	M166I	probably damaging	Het
Pde4b	G	T	4: 102,462,492 (GRCm39)	D723Y	probably benign	Het
Pdzrn3	T	C	6: 101,127,915 (GRCm39)	E917G	probably damaging	Het
Ppip5k1	C	T	2: 121,168,108 (GRCm39)	R715H	probably damaging	Het
Prkdc	T	A	16: 15,505,216 (GRCm39)		probably benign	Het
Ptp4a3	A	G	15: 73,625,618 (GRCm39)	Y21C	probably damaging	Het
Ptprk	C	A	10: 28,468,763 (GRCm39)		probably benign	Het
Rfesd	C	A	13: 76,150,991 (GRCm39)		probably null	Het
Rtel1	A	T	2: 180,993,656 (GRCm39)	K592*	probably null	Het
Siah1a	T	A	8: 87,451,898 (GRCm39)	K195N	probably damaging	Het
Slc5a5	G	T	8: 71,341,231 (GRCm39)	D369E	probably damaging	Het
Slc6a6	A	T	6: 91,701,891 (GRCm39)	I100F	probably benign	Het
Smtn	T	C	11: 3,467,781 (GRCm39)	I913V	probably benign	Het
Sun1	C	T	5: 139,211,193 (GRCm39)	H149Y	probably damaging	Het
Taar5	T	C	10: 23,846,992 (GRCm39)	I130T	possibly damaging	Het
Tmem132b	G	T	5: 125,826,353 (GRCm39)	V448F	probably damaging	Het
Tmem94	C	A	11: 115,685,154 (GRCm39)	N888K	possibly damaging	Het
Trpc1	T	C	9: 95,588,896 (GRCm39)	N742S	probably damaging	Het
Ttbk2	T	C	2: 120,637,330 (GRCm39)	T112A	probably damaging	Het
Tubb2a	A	T	13: 34,259,439 (GRCm39)	L117Q	probably damaging	Het
Vmn1r60	T	A	7: 5,547,819 (GRCm39)	M94L	probably benign	Het
Vmn2r83	A	G	10: 79,327,653 (GRCm39)	T754A	probably benign	Het

Other mutations in Stk17b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00722:Stk17b	APN	1	53,803,299 (GRCm39)	missense	probably damaging	0.99
IGL00767:Stk17b	APN	1	53,803,182 (GRCm39)	splice site	probably benign
IGL01012:Stk17b	APN	1	53,800,196 (GRCm39)	missense	probably benign	0.06
IGL01431:Stk17b	APN	1	53,805,074 (GRCm39)	splice site	probably benign
IGL01914:Stk17b	APN	1	53,800,226 (GRCm39)	missense	probably damaging	0.98
IGL02236:Stk17b	APN	1	53,803,247 (GRCm39)	missense	probably damaging	1.00
IGL02827:Stk17b	APN	1	53,815,701 (GRCm39)	missense	probably benign	0.03
R0013:Stk17b	UTSW	1	53,803,291 (GRCm39)	missense	probably benign	0.36
R0545:Stk17b	UTSW	1	53,801,742 (GRCm39)	splice site	probably benign
R0831:Stk17b	UTSW	1	53,796,651 (GRCm39)	missense	probably damaging	1.00
R1035:Stk17b	UTSW	1	53,801,758 (GRCm39)	missense	probably benign	0.22
R1375:Stk17b	UTSW	1	53,805,106 (GRCm39)	missense	possibly damaging	0.83
R1576:Stk17b	UTSW	1	53,796,749 (GRCm39)	missense	probably damaging	1.00
R1809:Stk17b	UTSW	1	53,805,140 (GRCm39)	missense	possibly damaging	0.80
R1988:Stk17b	UTSW	1	53,800,241 (GRCm39)	missense	probably damaging	1.00
R2105:Stk17b	UTSW	1	53,815,764 (GRCm39)	missense	probably benign	0.01
R2255:Stk17b	UTSW	1	53,815,731 (GRCm39)	missense	probably benign	0.00
R4395:Stk17b	UTSW	1	53,803,274 (GRCm39)	missense	probably damaging	0.98
R4521:Stk17b	UTSW	1	53,803,197 (GRCm39)	missense	probably damaging	1.00
R4777:Stk17b	UTSW	1	53,810,867 (GRCm39)	missense	probably damaging	1.00
R4871:Stk17b	UTSW	1	53,796,693 (GRCm39)	missense	probably benign	0.14
R4892:Stk17b	UTSW	1	53,810,770 (GRCm39)	missense	probably damaging	0.99
R4999:Stk17b	UTSW	1	53,800,306 (GRCm39)	splice site	probably null
R5122:Stk17b	UTSW	1	53,815,717 (GRCm39)	missense	probably damaging	1.00
R5621:Stk17b	UTSW	1	53,810,943 (GRCm39)	nonsense	probably null
R6636:Stk17b	UTSW	1	53,800,247 (GRCm39)	missense	probably damaging	1.00
R6924:Stk17b	UTSW	1	53,800,218 (GRCm39)	missense	possibly damaging	0.54
R7283:Stk17b	UTSW	1	53,796,674 (GRCm39)	missense	probably benign
R7322:Stk17b	UTSW	1	53,805,104 (GRCm39)	missense	probably benign	0.16
R7671:Stk17b	UTSW	1	53,805,159 (GRCm39)	missense	probably damaging	0.99
R8984:Stk17b	UTSW	1	53,796,784 (GRCm39)	missense	probably benign	0.05
R9476:Stk17b	UTSW	1	53,796,898 (GRCm39)	missense	probably damaging	1.00
R9510:Stk17b	UTSW	1	53,796,898 (GRCm39)	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'- AAACTTTGCCAGACTTGTGGAC -3'

Posted On

2014-08-25