Mutagenetix > Incidental Mutation

Incidental Mutation 'R7671:Stk17b'

592138

Institutional Source

Beutler Lab

Gene Symbol

Stk17b

Ensembl Gene

ENSMUSG00000026094

Gene Name

serine/threonine kinase 17b (apoptosis-inducing)

Synonyms

3110009A03Rik, Drak2

Accession Numbers

Essential gene?

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

Stock #

R7671 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

53794671-53824374 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 53805159 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 134 (D134V)

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: D134V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000027263
Gene: ENSMUSG00000026094
AA Change: D134V

Domain	Start	End	E-Value	Type
S_TKc	33	293	5.77e-79	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000185920
AA Change: D6V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000139880
Gene: ENSMUSG00000026094
AA Change: D6V

Domain	Start	End	E-Value	Type
S_TKc	1	93	5.8e-5	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	C	A	7: 75,219,648 (GRCm39)	T17K	probably damaging	Het
Ankrd29	T	A	18: 12,394,043 (GRCm39)	K257I	probably damaging	Het
Bicc1	A	G	10: 70,792,997 (GRCm39)	L219P	probably benign	Het
Bltp1	T	C	3: 36,997,380 (GRCm39)	F1146L	probably damaging	Het
Boc	C	T	16: 44,312,212 (GRCm39)	V617M		Het
Ccl8	A	G	11: 82,006,033 (GRCm39)		probably benign	Het
Col18a1	A	G	10: 76,921,217 (GRCm39)	L261P	unknown	Het
Col5a3	T	A	9: 20,686,382 (GRCm39)		probably null	Het
Cryba4	A	C	5: 112,396,039 (GRCm39)		probably null	Het
Csf2rb	A	G	15: 78,223,130 (GRCm39)	Y114C	probably damaging	Het
Ctif	T	C	18: 75,605,087 (GRCm39)	D484G	probably damaging	Het
Ctnnal1	A	G	4: 56,837,848 (GRCm39)	F261L	probably damaging	Het
Defb22	A	T	2: 152,327,950 (GRCm39)	N78K	unknown	Het
Dele1	T	A	18: 38,392,978 (GRCm39)	I394N	probably damaging	Het
Efr3a	G	A	15: 65,709,283 (GRCm39)		probably null	Het
Elp4	G	T	2: 105,734,826 (GRCm39)	A3E	probably damaging	Het
Emilin2	A	G	17: 71,580,905 (GRCm39)	V607A	probably benign	Het
Epsti1	A	G	14: 78,141,930 (GRCm39)	Y2C	probably damaging	Het
Fam81b	A	C	13: 76,419,412 (GRCm39)	L46R	probably damaging	Het
Fam81b	G	T	13: 76,419,413 (GRCm39)	L46I	possibly damaging	Het
Fbxo15	T	A	18: 84,982,278 (GRCm39)	H288Q	probably damaging	Het
Gabrg1	T	A	5: 70,973,323 (GRCm39)	N77I	probably damaging	Het
Ganab	A	G	19: 8,890,216 (GRCm39)	Y715C	possibly damaging	Het
H2bc27	T	C	11: 58,840,102 (GRCm39)	S113P	possibly damaging	Het
Iqgap2	T	C	13: 95,764,627 (GRCm39)	D1539G	probably damaging	Het
Kcp	T	C	6: 29,496,516 (GRCm39)	N633S	probably benign	Het
Krt6a	C	A	15: 101,598,978 (GRCm39)	S529I	unknown	Het
Leo1	A	G	9: 75,352,844 (GRCm39)	H129R	probably benign	Het
Lmf1	G	A	17: 25,798,323 (GRCm39)	V55M	possibly damaging	Het
Mcm9	A	G	10: 53,413,665 (GRCm39)	S472P	probably benign	Het
Med27	T	A	2: 29,267,950 (GRCm39)	V33D		Het
Mgat4f	T	C	1: 134,317,800 (GRCm39)	C191R	probably benign	Het
Mup15	C	T	4: 61,356,526 (GRCm39)	E80K	probably benign	Het
Myo18a	G	A	11: 77,750,246 (GRCm39)	R199H		Het
Nebl	T	A	2: 17,395,727 (GRCm39)	R558*	probably null	Het
Or10ak8	A	T	4: 118,774,183 (GRCm39)	H160Q	probably benign	Het
Or11g7	G	T	14: 50,691,342 (GRCm39)	V278L	probably benign	Het
Or12e9	A	G	2: 87,202,613 (GRCm39)	T246A	probably damaging	Het
Or4a79	A	T	2: 89,551,603 (GRCm39)	I284K	probably damaging	Het
Or5p78	T	C	7: 108,212,198 (GRCm39)	I228T	probably damaging	Het
Or6c217	T	C	10: 129,738,222 (GRCm39)	D119G	probably damaging	Het
Or8b41	A	T	9: 38,054,736 (GRCm39)	M97L	probably benign	Het
Pde11a	A	T	2: 76,045,697 (GRCm39)	F376I	possibly damaging	Het
Prima1	A	T	12: 103,201,920 (GRCm39)	C52S	probably damaging	Het
Pxn	G	A	5: 115,686,606 (GRCm39)	R366H	not run	Het
Sgce	T	C	6: 4,691,564 (GRCm39)	Y337C	probably damaging	Het
Slc25a10	T	A	11: 120,386,286 (GRCm39)	M130K	probably benign	Het
Slc29a2	A	T	19: 5,074,290 (GRCm39)	N5I	probably benign	Het
Slc35a1	A	T	4: 34,673,875 (GRCm39)	H150Q		Het
Slc5a4a	T	A	10: 75,983,384 (GRCm39)	V7D	unknown	Het
Tex55	C	T	16: 38,648,453 (GRCm39)	D219N	possibly damaging	Het
Thbs3	T	A	3: 89,124,014 (GRCm39)	S36T	probably benign	Het
Thsd4	A	G	9: 60,335,457 (GRCm39)	S152P	probably benign	Het
Tmem67	G	T	4: 12,063,698 (GRCm39)	H422N	probably benign	Het
Tram1	C	A	1: 13,659,868 (GRCm39)	V27F	probably damaging	Het
Trim14	A	G	4: 46,507,238 (GRCm39)	V326A	possibly damaging	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
R2033:Stk17b	UTSW	1	53,800,235 (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
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'- TGCTTGTATCAACAGCACCC -3'
(R):5'- GAAGTTTGAGAGCACTGAATCC -3'

Sequencing Primer
(F):5'- TGTATCAACAGCACCCTAGCACTG -3'
(R):5'- TCTTGACAGACAGAGATGGTATACC -3'

Posted On

2019-11-12