Mutagenetix > Incidental Mutation

Incidental Mutation 'R4975:Stk39'

448950

Institutional Source

Beutler Lab

Gene Symbol

Stk39

Ensembl Gene

ENSMUSG00000027030

Gene Name

serine/threonine kinase 39

Synonyms

SPAK, DCHT, Rnl5, RF005

MMRRC Submission

042570-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.491) question?

Stock #

R4975 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

68040789-68302381 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 68051336 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099776 (fasta)

Gene Model

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

AlphaFold

Q9Z1W9

Predicted Effect

probably benign
Transcript: ENSMUST00000102715

SMART Domains

Protein: ENSMUSP00000099776
Gene: ENSMUSG00000027030

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: ENSMUST00000126663

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130380

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134442

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139407

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144457

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 92.8%

Validation Efficiency

100% (81/81)

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
Aadacl2fm1	A	C	3: 59,840,161 (GRCm39)	T78P	probably damaging	Het
Abcc8	T	C	7: 45,800,291 (GRCm39)	K497R	probably damaging	Het
Aldh1a3	C	T	7: 66,068,927 (GRCm39)	R19Q	possibly damaging	Het
Bmp2k	A	G	5: 97,234,944 (GRCm39)		probably benign	Het
Ccni	A	T	5: 93,335,553 (GRCm39)	L195Q	possibly damaging	Het
Cdkl4	C	A	17: 80,832,764 (GRCm39)	G327*	probably null	Het
Cdsn	T	C	17: 35,866,326 (GRCm39)	V285A	possibly damaging	Het
Cfap20dc	A	G	14: 8,518,736 (GRCm38)	V240A	probably benign	Het
Chtf18	T	C	17: 25,943,540 (GRCm39)	E352G	possibly damaging	Het
Clasp2	T	A	9: 113,732,984 (GRCm39)	I961N	probably damaging	Het
Cpsf2	A	G	12: 101,949,752 (GRCm39)	Q128R	probably damaging	Het
Cttnbp2	C	A	6: 18,406,525 (GRCm39)	Q1055H	possibly damaging	Het
Cyld	T	G	8: 89,433,860 (GRCm39)	F216L	probably benign	Het
Cyp3a41a	A	G	5: 145,656,858 (GRCm39)	M1T	probably null	Het
Disp3	C	T	4: 148,328,673 (GRCm39)	R1097H	possibly damaging	Het
Dmap1	T	C	4: 117,538,233 (GRCm39)	D67G	possibly damaging	Het
Dnah8	T	C	17: 30,875,959 (GRCm39)	F529L	probably benign	Het
Ergic3	T	C	2: 155,859,638 (GRCm39)		probably null	Het
Fkbp14	A	G	6: 54,569,943 (GRCm39)	I29T	probably benign	Het
Gm4845	T	A	1: 141,184,623 (GRCm39)		noncoding transcript	Het
Gm7135	A	T	1: 97,281,801 (GRCm39)		noncoding transcript	Het
Gpbar1	TACCAC	TAC	1: 74,318,704 (GRCm39)		probably benign	Het
Gtf2ird1	T	A	5: 134,424,481 (GRCm39)	I57F	probably damaging	Het
Hectd1	A	G	12: 51,809,280 (GRCm39)	V1722A	probably benign	Het
Hmcn2	A	G	2: 31,283,037 (GRCm39)	D1971G	possibly damaging	Het
Il21	C	A	3: 37,286,653 (GRCm39)	S21I	probably damaging	Het
Itih4	T	A	14: 30,614,244 (GRCm39)	I398N	probably damaging	Het
Kansl1	A	T	11: 104,226,390 (GRCm39)	S922R	probably damaging	Het
Krt27	G	A	11: 99,237,722 (GRCm39)	Q339*	probably null	Het
Lama1	C	A	17: 68,045,829 (GRCm39)	L245I	possibly damaging	Het
Lmo2	T	A	2: 103,806,488 (GRCm39)	C60*	probably null	Het
Med16	A	G	10: 79,738,839 (GRCm39)	S316P	possibly damaging	Het
Mia3	T	C	1: 183,111,970 (GRCm39)	N529S	probably benign	Het
Msi2	T	C	11: 88,285,481 (GRCm39)	K188E	probably damaging	Het
Myh7	T	C	14: 55,209,128 (GRCm39)	K1870R	probably damaging	Het
Nhlrc1	A	G	13: 47,167,216 (GRCm39)	V347A	probably benign	Het
Nol6	C	T	4: 41,120,167 (GRCm39)	R487H	probably benign	Het
Or4c117	T	C	2: 88,955,682 (GRCm39)	Y131C	probably damaging	Het
Or4k41	T	C	2: 111,280,028 (GRCm39)	I181T	probably benign	Het
Or52h1	A	T	7: 103,828,736 (GRCm39)	V293D	probably damaging	Het
Or5d18	T	C	2: 87,865,005 (GRCm39)	I159M	probably benign	Het
Or6c205	T	C	10: 129,087,141 (GRCm39)	I246T	probably damaging	Het
Otog	T	C	7: 45,937,415 (GRCm39)	V1708A	probably benign	Het
Ptprv	A	G	1: 135,046,586 (GRCm39)		noncoding transcript	Het
Pus7l	A	G	15: 94,427,369 (GRCm39)	V471A	possibly damaging	Het
Rab11fip4	A	G	11: 79,510,497 (GRCm39)	R68G	probably damaging	Het
Ralgapb	A	G	2: 158,277,428 (GRCm39)	D264G	possibly damaging	Het
Reln	A	G	5: 22,165,424 (GRCm39)	S2045P	probably damaging	Het
Rgs22	A	C	15: 36,055,022 (GRCm39)	Y593*	probably null	Het
Ror2	C	T	13: 53,285,954 (GRCm39)	D87N	probably damaging	Het
Rps6ka4	A	T	19: 6,817,678 (GRCm39)		probably null	Het
Rttn	T	A	18: 89,082,209 (GRCm39)		probably null	Het
Runx3	A	G	4: 134,898,446 (GRCm39)	T206A	probably benign	Het
Setx	A	G	2: 29,054,562 (GRCm39)	E2158G	probably damaging	Het
Siglece	C	T	7: 43,308,396 (GRCm39)		probably null	Het
Slco1a8	T	C	6: 141,926,599 (GRCm39)	S576G	probably benign	Het
Snx1	A	T	9: 66,012,187 (GRCm39)	L96*	probably null	Het
Srrm1	A	G	4: 135,074,031 (GRCm39)		probably benign	Het
Sun3	G	A	11: 8,988,311 (GRCm39)	R4*	probably null	Het
Svil	A	G	18: 5,054,025 (GRCm39)	K347E	possibly damaging	Het
Sybu	T	A	15: 44,541,063 (GRCm39)	E333V	probably damaging	Het
Tet2	A	G	3: 133,192,520 (GRCm39)		probably benign	Het
Tfip11	G	T	5: 112,483,613 (GRCm39)		probably benign	Het
Tmc1	A	C	19: 20,884,319 (GRCm39)	D40E	probably damaging	Het
Twf2	G	T	9: 106,089,539 (GRCm39)	G121W	probably damaging	Het
Vpreb3	A	G	10: 75,775,636 (GRCm39)	V50A	probably damaging	Het
Vps8	T	A	16: 21,285,219 (GRCm39)	L400Q	probably damaging	Het
Xylt1	A	T	7: 117,266,565 (GRCm39)	Y861F	probably damaging	Het
Zfp608	T	G	18: 55,022,962 (GRCm39)	T1485P	probably damaging	Het
Zfp619	T	G	7: 39,186,504 (GRCm39)	S845A	possibly damaging	Het
Zscan4d	A	T	7: 10,899,274 (GRCm39)	M1K	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
R4726:Stk39	UTSW	2	68,093,647 (GRCm39)	missense	probably damaging	1.00
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'- TGATTCTCCCGCAATCCAGC -3'
(R):5'- TTAATCCAGATGCACATAGATAGGAGG -3'

Sequencing Primer
(F):5'- GCAATCCAGCAAGAACGCTAAG -3'
(R):5'- TGCACATAGATAGGAGGTGACAG -3'

Posted On

2016-12-16