Mutagenetix > Incidental Mutation

Incidental Mutation 'R9003:Stk39'

685067

Institutional Source

Beutler Lab

Gene Symbol

Stk39

Ensembl Gene

ENSMUSG00000027030

Gene Name

serine/threonine kinase 39

Synonyms

SPAK, DCHT, Rnl5, RF005

MMRRC Submission

068833-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.506) question?

Stock #

R9003 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68040789-68302381 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 68222462 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 201 (I201V)

Ref Sequence

ENSEMBL: ENSMUSP00000099776 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102715]

AlphaFold

Q9Z1W9

Predicted Effect

probably damaging
Transcript: ENSMUST00000102715
AA Change: I201V

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099776
Gene: ENSMUSG00000027030
AA Change: I201V

Domain	Start	End	E-Value	Type
low complexity region	14	65	N/A	INTRINSIC
S_TKc	75	349	4.44e-80	SMART
Pfam:OSR1_C	463	494	1.3e-15	PFAM

Meta Mutation Damage Score

0.5965

Coding Region Coverage

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

Validation Efficiency

100% (57/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/threonine kinase that is thought to function in the cellular stress response pathway. The kinase is activated in response to hypotonic stress, leading to phosphorylation of several cation-chloride-coupled cotransporters. The catalytically active kinase specifically activates the p38 MAP kinase pathway, and its interaction with p38 decreases upon cellular stress, suggesting that this kinase may serve as an intermediate in the response to cellular stress. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit reduced bumetanide-sensitive thallium, a potassium tracer, uptake in dorsal root ganglion neurons and reduced fertility. Mice with an ENU mutation in intron 8 exhibit elevated albumin-creatinine (ACR) ratios. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	G	A	12: 118,850,013 (GRCm39)	H917Y	possibly damaging	Het
Acot4	A	G	12: 84,089,969 (GRCm39)	K222R	possibly damaging	Het
Akap12	A	G	10: 4,306,744 (GRCm39)	S1290G	probably benign	Het
Arid1a	T	C	4: 133,411,799 (GRCm39)	I1311V	unknown	Het
Asf1b	G	T	8: 84,682,530 (GRCm39)	E25*	probably null	Het
Atp10a	T	A	7: 58,457,203 (GRCm39)	W901R	probably damaging	Het
Aurkc	T	A	7: 6,999,547 (GRCm39)	I18N	probably damaging	Het
Carmil2	A	G	8: 106,423,905 (GRCm39)	T1253A	probably damaging	Het
Ccdc146	T	C	5: 21,508,132 (GRCm39)	T639A	possibly damaging	Het
Cdca4	A	G	12: 112,785,659 (GRCm39)	V23A	probably benign	Het
Chpt1	A	G	10: 88,312,943 (GRCm39)	F290L	probably damaging	Het
Clca3b	C	T	3: 144,533,072 (GRCm39)	W653*	probably null	Het
Coa8	A	G	12: 111,688,189 (GRCm39)	*45W	probably null	Het
Cpb2	A	T	14: 75,479,868 (GRCm39)		probably benign	Het
Cul9	A	G	17: 46,836,001 (GRCm39)	V1215A	possibly damaging	Het
Cxxc4	A	T	3: 133,945,431 (GRCm39)	N4I	unknown	Het
Eps8l1	G	T	7: 4,464,016 (GRCm39)	V47F	possibly damaging	Het
Exoc6	T	C	19: 37,587,097 (GRCm39)	I537T	probably damaging	Het
Fbn2	T	C	18: 58,176,591 (GRCm39)	Y2040C	probably damaging	Het
Gfm2	T	G	13: 97,282,889 (GRCm39)		probably benign	Het
Jak2	A	T	19: 29,254,240 (GRCm39)	M187L	probably benign	Het
Kif5b	A	G	18: 6,224,047 (GRCm39)	V247A	probably benign	Het
Klhl22	T	C	16: 17,589,612 (GRCm39)	V91A	probably damaging	Het
Ldhd	T	C	8: 112,356,894 (GRCm39)	S17G	probably benign	Het
Madd	C	A	2: 90,988,359 (GRCm39)	E1223*	probably null	Het
Mecom	T	C	3: 30,034,639 (GRCm39)	I346V	probably benign	Het
Mthfd1	C	T	12: 76,350,754 (GRCm39)	T712M	probably benign	Het
Nek4	C	T	14: 30,704,471 (GRCm39)	T662M	probably benign	Het
Or10g3b	T	A	14: 52,586,768 (GRCm39)	H245L	probably damaging	Het
Or2y1b	C	T	11: 49,209,155 (GRCm39)	P261S	possibly damaging	Het
Or4c117	T	A	2: 88,956,024 (GRCm39)	Q17L	possibly damaging	Het
Or4k42	A	G	2: 111,320,411 (GRCm39)	F31L	probably benign	Het
Or5ac19	A	T	16: 59,089,263 (GRCm39)	F256I	probably benign	Het
Or8c18	C	T	9: 38,203,343 (GRCm39)	T34I	probably benign	Het
Phc3	G	A	3: 31,020,007 (GRCm39)	T19I	possibly damaging	Het
Pla2g4e	T	A	2: 120,007,282 (GRCm39)	Q472L	probably benign	Het
Plcg2	C	T	8: 118,342,002 (GRCm39)	T1121I		Het
Plin2	T	C	4: 86,580,324 (GRCm39)	T146A	probably benign	Het
Pum1	T	G	4: 130,474,393 (GRCm39)	S488A	probably benign	Het
Robo1	A	G	16: 72,539,002 (GRCm39)		probably benign	Het
Rsbn1	T	C	3: 103,822,188 (GRCm39)	L102P	probably damaging	Het
Sbno2	A	T	10: 79,896,049 (GRCm39)	V939E	probably damaging	Het
Scarf1	A	T	11: 75,406,069 (GRCm39)	T118S	possibly damaging	Het
Sdcbp2	G	A	2: 151,429,113 (GRCm39)	V171M	probably benign	Het
Sh3pxd2b	T	C	11: 32,361,571 (GRCm39)	I261T	probably damaging	Het
Slc4a9	A	G	18: 36,673,787 (GRCm39)		probably null	Het
Smpdl3a	A	G	10: 57,683,977 (GRCm39)	Y245C	probably damaging	Het
Timm44	A	G	8: 4,324,204 (GRCm39)	L25P	possibly damaging	Het
Tinf2	T	C	14: 55,917,859 (GRCm39)	H210R	probably benign	Het
Tmem168	A	T	6: 13,591,446 (GRCm39)	Y457N	probably benign	Het
Topbp1	T	C	9: 103,200,727 (GRCm39)	S587P	probably benign	Het
Tpp1	T	A	7: 105,398,156 (GRCm39)	I336F	probably benign	Het
Ttc28	G	A	5: 111,424,896 (GRCm39)	V1574I	probably benign	Het
Tut4	A	G	4: 108,400,029 (GRCm39)	K1277E	probably damaging	Het
Vmn2r52	A	T	7: 9,905,181 (GRCm39)	D219E	probably benign	Het
Zbtb40	G	T	4: 136,745,904 (GRCm39)	A43E	probably damaging	Het
Zfp970	G	A	2: 177,167,010 (GRCm39)	A195T	probably damaging	Het

Other mutations in Stk39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00946:Stk39	APN	2	68,144,908 (GRCm39)	missense	possibly damaging	0.81
IGL00966:Stk39	APN	2	68,042,302 (GRCm39)	missense	probably benign	0.01
IGL01936:Stk39	APN	2	68,144,908 (GRCm39)	missense	probably benign	0.21
IGL02301:Stk39	APN	2	68,042,306 (GRCm39)	missense	probably damaging	1.00
IGL02940:Stk39	APN	2	68,051,243 (GRCm39)	splice site	probably null
claimjumper	UTSW	2	68,144,923 (GRCm39)	missense	probably damaging	0.96
outlaw	UTSW	2	68,137,383 (GRCm39)	critical splice donor site	probably null
rustler	UTSW	2	68,093,647 (GRCm39)	missense	probably damaging	1.00
R0570:Stk39	UTSW	2	68,240,392 (GRCm39)	missense	probably damaging	1.00
R0609:Stk39	UTSW	2	68,196,511 (GRCm39)	missense	probably damaging	1.00
R0670:Stk39	UTSW	2	68,196,526 (GRCm39)	missense	possibly damaging	0.93
R0980:Stk39	UTSW	2	68,222,515 (GRCm39)	missense	probably damaging	1.00
R1024:Stk39	UTSW	2	68,240,390 (GRCm39)	missense	probably damaging	1.00
R1573:Stk39	UTSW	2	68,221,293 (GRCm39)	missense	probably damaging	1.00
R1713:Stk39	UTSW	2	68,137,460 (GRCm39)	splice site	probably benign
R2223:Stk39	UTSW	2	68,144,923 (GRCm39)	missense	probably damaging	0.96
R3700:Stk39	UTSW	2	68,222,462 (GRCm39)	missense	probably damaging	1.00
R4207:Stk39	UTSW	2	68,051,264 (GRCm39)	missense	probably benign	0.42
R4298:Stk39	UTSW	2	68,221,284 (GRCm39)	missense	probably damaging	1.00
R4726:Stk39	UTSW	2	68,093,647 (GRCm39)	missense	probably damaging	1.00
R4975:Stk39	UTSW	2	68,051,336 (GRCm39)	intron	probably benign
R5057:Stk39	UTSW	2	68,051,292 (GRCm39)	missense	probably damaging	0.99
R5384:Stk39	UTSW	2	68,240,383 (GRCm39)	missense	probably damaging	1.00
R5921:Stk39	UTSW	2	68,196,449 (GRCm39)	missense	probably damaging	0.97
R6125:Stk39	UTSW	2	68,222,468 (GRCm39)	missense	probably damaging	1.00
R6251:Stk39	UTSW	2	68,137,383 (GRCm39)	critical splice donor site	probably null
R6332:Stk39	UTSW	2	68,240,387 (GRCm39)	missense	possibly damaging	0.93
R6375:Stk39	UTSW	2	68,222,582 (GRCm39)	missense	probably benign	0.34
R7057:Stk39	UTSW	2	68,240,471 (GRCm39)	missense	possibly damaging	0.88
R7064:Stk39	UTSW	2	68,189,156 (GRCm39)	critical splice donor site	probably null
R7691:Stk39	UTSW	2	68,301,983 (GRCm39)	missense	probably damaging	0.97
R7921:Stk39	UTSW	2	68,137,383 (GRCm39)	critical splice donor site	probably null
R8155:Stk39	UTSW	2	68,097,410 (GRCm39)	missense	probably damaging	1.00
R8920:Stk39	UTSW	2	68,302,191 (GRCm39)	missense	unknown
R9530:Stk39	UTSW	2	68,198,755 (GRCm39)	missense	probably damaging	1.00
R9682:Stk39	UTSW	2	68,196,449 (GRCm39)	missense	probably damaging	0.97
R9784:Stk39	UTSW	2	68,198,775 (GRCm39)	missense	probably damaging	1.00
Z1176:Stk39	UTSW	2	68,222,542 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACACAGCTCTTAACACATTTTGC -3'
(R):5'- GATGCAATGCTTCTGGCCTG -3'

Sequencing Primer
(F):5'- TTCAGTTTAACCATATAAACCAGCC -3'
(R):5'- GGGTTCTTAATCTAAAACAGACTGG -3'

Posted On

2021-10-11