Mutagenetix > Incidental Mutation

Incidental Mutation 'R5447:Stk10'

429139

Institutional Source

Beutler Lab

Gene Symbol

Stk10

Ensembl Gene

ENSMUSG00000020272

Gene Name

serine/threonine kinase 10

Synonyms

Lok, Gek1

MMRRC Submission

043012-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R5447 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32483305-32574587 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 32554166 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 618 (Q618*)

Ref Sequence

ENSEMBL: ENSMUSP00000099885 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102821]

AlphaFold

O55098

Predicted Effect

probably null
Transcript: ENSMUST00000102821
AA Change: Q618*

SMART Domains

Protein: ENSMUSP00000099885
Gene: ENSMUSG00000020272
AA Change: Q618*

Domain	Start	End	E-Value	Type
S_TKc	36	294	8.66e-92	SMART
low complexity region	316	334	N/A	INTRINSIC
low complexity region	544	577	N/A	INTRINSIC
Pfam:PKK	586	724	1.9e-41	PFAM
Pfam:PKK	754	894	2.2e-37	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (71/73)

MGI Phenotype

FUNCTION: This gene encodes a member of the Ste20 family of serine/threonine protein kinases, and is similar to several known polo-like kinase kinases. Mice deficient for this gene product are viable, but exhibit altered integrin-mediated lymphocyte adhesion characteristics. The orthologous gene product in humans can associate with and phosphorylate polo-like kinase 1, and overexpression of a kinase-dead version of the protein interferes with normal cell cycle progression. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted disruption of this gene results in enhanced cell adhesion in mitogen-stimulated T cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	C	12: 118,891,061 (GRCm39)	I479V	probably damaging	Het
Adam30	A	G	3: 98,068,659 (GRCm39)	D164G	probably benign	Het
Adgrl3	T	A	5: 81,613,188 (GRCm39)		probably benign	Het
Adrb1	T	C	19: 56,711,519 (GRCm39)	I239T	probably benign	Het
Albfm1	C	A	5: 90,732,169 (GRCm39)	A458E	probably damaging	Het
B4galnt3	T	C	6: 120,192,018 (GRCm39)	T572A	probably benign	Het
Baz2b	T	C	2: 59,744,332 (GRCm39)	E1391G	probably damaging	Het
BC016579	A	G	16: 45,469,252 (GRCm39)	V72A	probably benign	Het
Btnl10	A	T	11: 58,813,144 (GRCm39)	I258F	probably benign	Het
Cdh5	A	T	8: 104,855,994 (GRCm39)	D309V	probably damaging	Het
Cdhr2	A	G	13: 54,881,063 (GRCm39)	D1042G	probably damaging	Het
Clk2	G	T	3: 89,074,498 (GRCm39)	V53F	possibly damaging	Het
Cyfip2	T	C	11: 46,182,413 (GRCm39)	D15G	possibly damaging	Het
Dip2b	C	T	15: 100,109,867 (GRCm39)	R1451C	probably damaging	Het
Dmbt1	A	G	7: 130,721,240 (GRCm39)	Y1836C	probably damaging	Het
Dysf	T	C	6: 84,172,245 (GRCm39)	F1905L	probably damaging	Het
E130114P18Rik	A	G	4: 97,578,955 (GRCm39)	S7P	unknown	Het
Fam110a	T	C	2: 151,812,629 (GRCm39)	E47G	probably damaging	Het
Gemin6	T	G	17: 80,535,178 (GRCm39)	V46G	probably damaging	Het
Helb	T	A	10: 119,938,806 (GRCm39)	D556V	possibly damaging	Het
Hoxd4	A	G	2: 74,557,687 (GRCm39)	E22G	probably damaging	Het
Hsd17b8	A	T	17: 34,245,886 (GRCm39)	V202D	probably damaging	Het
Il1rl2	T	G	1: 40,368,316 (GRCm39)	I162R	probably damaging	Het
Lhfpl5	A	G	17: 28,795,071 (GRCm39)	T33A	probably damaging	Het
Mapk8ip3	G	A	17: 25,118,163 (GRCm39)	A1283V	probably benign	Het
Mettl13	A	G	1: 162,363,449 (GRCm39)	V227A	probably benign	Het
Mmgt2	T	A	11: 62,555,824 (GRCm39)	C57*	probably null	Het
Muc4	G	C	16: 32,753,919 (GRCm38)	R1265P	probably benign	Het
Mylk2	T	C	2: 152,754,430 (GRCm39)	S175P	probably damaging	Het
Neu4	C	T	1: 93,950,140 (GRCm39)	T33M	probably damaging	Het
Nfs1	C	T	2: 155,984,056 (GRCm39)	R107H	probably benign	Het
Nfxl1	C	T	5: 72,686,512 (GRCm39)	R563Q	probably benign	Het
Nid1	A	G	13: 13,612,495 (GRCm39)	D70G	probably benign	Het
Nup160	C	A	2: 90,555,959 (GRCm39)	Q1220K	possibly damaging	Het
Or1ad8	G	A	11: 50,898,170 (GRCm39)	V124M	possibly damaging	Het
Or1e22	A	G	11: 73,377,002 (GRCm39)	V216A	probably benign	Het
Or52s6	A	C	7: 103,092,147 (GRCm39)	M61R	probably damaging	Het
Or5k8	A	T	16: 58,644,846 (GRCm39)	C75*	probably null	Het
Pdgfrb	T	A	18: 61,201,180 (GRCm39)	V422E	probably damaging	Het
Pear1	G	A	3: 87,666,449 (GRCm39)	R85C	probably damaging	Het
Pkhd1	T	A	1: 20,309,609 (GRCm39)	M2780L	probably benign	Het
Ppp4r4	T	C	12: 103,550,410 (GRCm39)	V62A	possibly damaging	Het
Prol1	C	T	5: 88,476,125 (GRCm39)	P172S	unknown	Het
Proz	A	G	8: 13,122,578 (GRCm39)	I231V	probably benign	Het
Ptch1	T	G	13: 63,675,059 (GRCm39)	M718L	probably benign	Het
Ptprs	A	G	17: 56,736,128 (GRCm39)	C102R	possibly damaging	Het
Robo2	A	T	16: 73,770,654 (GRCm39)	Y490*	probably null	Het
Rptor	G	A	11: 119,734,539 (GRCm39)	G514D	probably damaging	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Skint6	T	A	4: 112,963,106 (GRCm39)	S442C	probably benign	Het
Snw1	T	C	12: 87,502,485 (GRCm39)	E303G	probably benign	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Stam2	G	A	2: 52,626,305 (GRCm39)		probably benign	Het
Tmc3	A	T	7: 83,271,569 (GRCm39)	E907V	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ttn	T	A	2: 76,729,451 (GRCm39)		probably benign	Het
Vps39	T	C	2: 120,183,413 (GRCm39)	D19G	probably benign	Het
Zan	T	C	5: 137,470,453 (GRCm39)	S229G	probably damaging	Het
Zfp141	A	T	7: 42,124,983 (GRCm39)	C496*	probably null	Het
Zgrf1	T	C	3: 127,356,768 (GRCm39)	S665P	possibly damaging	Het

Other mutations in Stk10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01105:Stk10	APN	11	32,527,740 (GRCm39)	missense	probably benign	0.33
IGL01285:Stk10	APN	11	32,560,653 (GRCm39)	missense	possibly damaging	0.91
IGL01983:Stk10	APN	11	32,539,460 (GRCm39)	missense	probably benign	0.05
IGL03177:Stk10	APN	11	32,564,592 (GRCm39)	missense	probably damaging	1.00
IGL03183:Stk10	APN	11	32,554,143 (GRCm39)	missense	possibly damaging	0.50
coquet	UTSW	11	32,527,764 (GRCm39)	missense
legacy	UTSW	11	32,554,166 (GRCm39)	nonsense	probably null
mignon	UTSW	11	32,537,363 (GRCm39)	missense	probably damaging	1.00
R0481_stk10_383	UTSW	11	32,564,708 (GRCm39)	missense	probably damaging	1.00
FR4976:Stk10	UTSW	11	32,564,520 (GRCm39)	critical splice acceptor site	probably benign
R0003:Stk10	UTSW	11	32,539,460 (GRCm39)	missense	probably benign	0.05
R0008:Stk10	UTSW	11	32,537,305 (GRCm39)	splice site	probably benign
R0056:Stk10	UTSW	11	32,567,851 (GRCm39)	missense	possibly damaging	0.95
R0076:Stk10	UTSW	11	32,553,722 (GRCm39)	missense	probably benign
R0227:Stk10	UTSW	11	32,567,859 (GRCm39)	missense	probably damaging	1.00
R0440:Stk10	UTSW	11	32,554,190 (GRCm39)	missense	probably damaging	1.00
R0454:Stk10	UTSW	11	32,546,724 (GRCm39)	missense	probably damaging	0.99
R0481:Stk10	UTSW	11	32,564,708 (GRCm39)	missense	probably damaging	1.00
R0504:Stk10	UTSW	11	32,567,882 (GRCm39)	missense	probably benign	0.04
R0790:Stk10	UTSW	11	32,548,653 (GRCm39)	missense	probably benign	0.00
R1439:Stk10	UTSW	11	32,567,919 (GRCm39)	missense	probably damaging	0.98
R1539:Stk10	UTSW	11	32,483,440 (GRCm39)	missense	possibly damaging	0.85
R1770:Stk10	UTSW	11	32,572,464 (GRCm39)	missense	possibly damaging	0.94
R4304:Stk10	UTSW	11	32,560,634 (GRCm39)	missense	probably damaging	0.97
R4430:Stk10	UTSW	11	32,483,552 (GRCm39)	missense	possibly damaging	0.81
R4702:Stk10	UTSW	11	32,505,172 (GRCm39)	missense	probably benign	0.28
R4797:Stk10	UTSW	11	32,548,471 (GRCm39)	missense	probably benign	0.01
R5801:Stk10	UTSW	11	32,546,748 (GRCm39)	missense	probably benign	0.01
R5802:Stk10	UTSW	11	32,546,748 (GRCm39)	missense	probably benign	0.01
R6129:Stk10	UTSW	11	32,565,871 (GRCm39)	missense	probably damaging	1.00
R6154:Stk10	UTSW	11	32,553,654 (GRCm39)	splice site	probably null
R6175:Stk10	UTSW	11	32,553,761 (GRCm39)	missense	possibly damaging	0.46
R6185:Stk10	UTSW	11	32,527,749 (GRCm39)	missense	probably benign	0.13
R6520:Stk10	UTSW	11	32,538,839 (GRCm39)	missense	probably damaging	1.00
R6824:Stk10	UTSW	11	32,537,363 (GRCm39)	missense	probably damaging	1.00
R7259:Stk10	UTSW	11	32,548,497 (GRCm39)	missense	probably benign	0.00
R7649:Stk10	UTSW	11	32,527,764 (GRCm39)	missense
R8331:Stk10	UTSW	11	32,538,928 (GRCm39)	missense
R8847:Stk10	UTSW	11	32,539,427 (GRCm39)	missense
R9252:Stk10	UTSW	11	32,538,915 (GRCm39)	missense
R9367:Stk10	UTSW	11	32,538,878 (GRCm39)	missense
X0027:Stk10	UTSW	11	32,537,361 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AAATCCCCTGTGTGGAGTGC -3'
(R):5'- ATAGCTTTGTGGCTGGGCAC -3'

Sequencing Primer
(F):5'- ACAGAGAGGTTAAGTAACTTGCCCTG -3'
(R):5'- TCATTTGGAAAGCTGGACCC -3'

Posted On

2016-09-06