Mutagenetix > Incidental Mutation

Incidental Mutation 'R4726:Stk39'

401825

Institutional Source

Beutler Lab

Gene Symbol

Stk39

Ensembl Gene

ENSMUSG00000027030

Gene Name

serine/threonine kinase 39

Synonyms

SPAK, DCHT, Rnl5, RF005

MMRRC Submission

041989-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.506) question?

Stock #

R4726 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

68040789-68302381 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 68093647 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 488 (D488V)

Ref Sequence

ENSEMBL: ENSMUSP00000099776 (fasta)

Gene Model

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

AlphaFold

Q9Z1W9

Predicted Effect

probably damaging
Transcript: ENSMUST00000102715
AA Change: D488V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099776
Gene: ENSMUSG00000027030
AA Change: D488V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123781

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126663

Meta Mutation Damage Score

0.5737

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

99% (74/75)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930583I09Rik	T	C	17: 65,141,448 (GRCm39)	S52G	probably null	Het
Abcc2	T	C	19: 43,820,553 (GRCm39)	S1351P	probably benign	Het
Acp2	T	A	2: 91,034,622 (GRCm39)	L87Q	probably damaging	Het
Adgrl3	C	A	5: 81,794,425 (GRCm39)	T550K	possibly damaging	Het
Amotl2	A	G	9: 102,601,018 (GRCm39)	R329G	probably benign	Het
Angel1	T	C	12: 86,768,649 (GRCm39)	N278S	probably damaging	Het
Ankrd12	A	C	17: 66,277,319 (GRCm39)	M1985R	probably damaging	Het
Apob	T	A	12: 8,040,267 (GRCm39)	F535I	probably damaging	Het
Art3	A	G	5: 92,559,002 (GRCm39)	K313R	probably benign	Het
Asxl2	C	T	12: 3,551,872 (GRCm39)	H1205Y	possibly damaging	Het
Bsph1	A	T	7: 13,206,920 (GRCm39)	M99L	probably benign	Het
Ccdc153	T	C	9: 44,154,963 (GRCm39)		probably null	Het
Cdh16	A	T	8: 105,342,664 (GRCm39)	M28K	probably damaging	Het
Cdhr2	T	C	13: 54,866,352 (GRCm39)	F353L	probably damaging	Het
Chrna2	G	T	14: 66,386,345 (GRCm39)	V164L	possibly damaging	Het
Cip2a	A	G	16: 48,834,433 (GRCm39)	T672A	probably benign	Het
Ckmt1	T	C	2: 121,191,712 (GRCm39)		probably null	Het
Col25a1	A	T	3: 130,313,430 (GRCm39)	E280V	possibly damaging	Het
Dnajc12	A	G	10: 63,233,087 (GRCm39)	D76G	probably damaging	Het
Drd3	G	T	16: 43,643,164 (GRCm39)	E467*	probably null	Het
Ecpas	A	G	4: 58,844,191 (GRCm39)	V525A	probably damaging	Het
Ehbp1l1	C	A	19: 5,769,204 (GRCm39)	A700S	possibly damaging	Het
Gab1	T	C	8: 81,515,682 (GRCm39)	D212G	possibly damaging	Het
Gm26996	A	G	6: 130,557,134 (GRCm39)		noncoding transcript	Het
Gm28113	A	G	15: 75,198,577 (GRCm39)		noncoding transcript	Het
Has3	T	C	8: 107,604,718 (GRCm39)	F308S	probably damaging	Het
Ifit3b	T	A	19: 34,588,860 (GRCm39)	I12N	probably benign	Het
Ifna4	C	A	4: 88,760,519 (GRCm39)	T141K	probably benign	Het
Ints3	A	G	3: 90,301,084 (GRCm39)	S840P	probably damaging	Het
Itih4	T	C	14: 30,611,792 (GRCm39)	V132A	probably damaging	Het
Itprid2	T	A	2: 79,493,101 (GRCm39)	I1216N	probably damaging	Het
Kcnj10	A	G	1: 172,196,639 (GRCm39)	Y51C	probably damaging	Het
Klk1b24	G	A	7: 43,839,820 (GRCm39)	V60I	probably damaging	Het
Klra14-ps	C	A	6: 130,134,626 (GRCm39)		noncoding transcript	Het
Krt6b	A	G	15: 101,586,520 (GRCm39)	I323T	probably damaging	Het
Lilra5	A	C	7: 4,240,957 (GRCm39)	Q17P	probably benign	Het
Lrrc7	GAAGTTGTTTGGAGATTCTTATCTTA	GA	3: 158,024,045 (GRCm39)		probably benign	Het
Map3k4	T	C	17: 12,451,851 (GRCm39)	N1479S	possibly damaging	Het
Mbd3l2	A	T	9: 18,356,256 (GRCm39)	I194F	probably damaging	Het
Megf10	T	C	18: 57,420,864 (GRCm39)	I834T	probably benign	Het
Mterf4	G	A	1: 93,229,471 (GRCm39)	T251M	probably damaging	Het
Mtmr3	A	T	11: 4,457,634 (GRCm39)	D170E	probably damaging	Het
Myom3	C	T	4: 135,534,586 (GRCm39)		probably null	Het
Nemp1	G	A	10: 127,530,462 (GRCm39)	V305I	probably benign	Het
Nlrp1b	G	T	11: 71,072,232 (GRCm39)	T537K	probably benign	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Or5b3	T	A	19: 13,388,469 (GRCm39)	C179S	probably damaging	Het
Or6c206	A	G	10: 129,097,045 (GRCm39)	T72A	possibly damaging	Het
Or8k28	A	G	2: 86,286,580 (GRCm39)	F12L	possibly damaging	Het
Pias1	A	G	9: 62,827,771 (GRCm39)	V212A	probably damaging	Het
Plscr1	T	A	9: 92,145,221 (GRCm39)	V77D	probably damaging	Het
Plxna1	T	C	6: 89,299,798 (GRCm39)	N1657S	probably damaging	Het
Ptprf	A	G	4: 118,069,414 (GRCm39)	V1551A	possibly damaging	Het
Ptprn2	C	A	12: 117,211,393 (GRCm39)	Y857*	probably null	Het
Puf60	A	T	15: 75,944,183 (GRCm39)		probably null	Het
Rnf20	C	T	4: 49,654,579 (GRCm39)	R879*	probably null	Het
Robo1	G	A	16: 72,768,931 (GRCm39)	A499T	probably damaging	Het
Slc39a14	A	G	14: 70,551,048 (GRCm39)		probably null	Het
Smarcad1	A	T	6: 65,052,025 (GRCm39)	H6L	probably damaging	Het
Smg5	A	G	3: 88,243,758 (GRCm39)	S10G	possibly damaging	Het
Stx19	A	G	16: 62,642,495 (GRCm39)	N104D	probably benign	Het
Tcstv1b	A	T	13: 120,635,173 (GRCm39)	S152C	possibly damaging	Het
Tmem222	T	C	4: 133,004,975 (GRCm39)	M21V	probably benign	Het
Trim43b	T	A	9: 88,971,538 (GRCm39)	N205I	possibly damaging	Het
Ubr4	C	A	4: 139,209,890 (GRCm39)	H5017N	possibly damaging	Het
Vmn2r93	A	G	17: 18,536,960 (GRCm39)	T548A	probably damaging	Het
Vps8	G	A	16: 21,267,154 (GRCm39)		probably null	Het
Wasl	A	G	6: 24,633,110 (GRCm39)	V176A	probably benign	Het
Wbp2nl	T	A	15: 82,190,255 (GRCm39)	V61E	probably damaging	Het
Zfp959	T	A	17: 56,205,260 (GRCm39)		probably null	Het
Zmiz1	T	C	14: 25,644,098 (GRCm39)		probably null	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
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
R9003:Stk39	UTSW	2	68,222,462 (GRCm39)	missense	probably damaging	0.98
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'- GGAAATACACGAGACACCTTTGAAG -3'
(R):5'- TTGTGGGAAAATATACCTCCTGG -3'

Sequencing Primer
(F):5'- GCAACAAAATGATACTGCA -3'
(R):5'- GATGGATTAAAGTCATTGGGT -3'

Posted On

2016-07-08