Mutagenetix > Incidental Mutation

Incidental Mutation 'R9682:Stk39'

728597

Institutional Source

Beutler Lab

Gene Symbol

Stk39

Ensembl Gene

ENSMUSG00000027030

Gene Name

serine/threonine kinase 39

Synonyms

SPAK, DCHT, Rnl5, RF005

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.506) question?

Stock #

R9682 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

68040789-68302381 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68196449 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 327 (S327P)

Ref Sequence

ENSEMBL: ENSMUSP00000099776 (fasta)

Gene Model

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

AlphaFold

Q9Z1W9

Predicted Effect

probably damaging
Transcript: ENSMUST00000102715
AA Change: S327P

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099776
Gene: ENSMUSG00000027030
AA Change: S327P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149581

Meta Mutation Damage Score

0.3051

Coding Region Coverage

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

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	T	5: 8,752,507 (GRCm39)	M493L	probably benign	Het
Abcb5	T	A	12: 118,896,328 (GRCm39)	I334F	probably damaging	Het
Acad9	C	T	3: 36,136,268 (GRCm39)	A351V	possibly damaging	Het
Adgrg6	A	T	10: 14,316,128 (GRCm39)	N536K	possibly damaging	Het
Alk	A	T	17: 72,182,058 (GRCm39)	L1322M	possibly damaging	Het
Atp2b1	T	C	10: 98,815,662 (GRCm39)	V102A	possibly damaging	Het
Atp8b3	T	C	10: 80,371,230 (GRCm39)	N48S	probably damaging	Het
B3gnt4	A	T	5: 123,649,516 (GRCm39)	I294L	probably benign	Het
Bnip3	A	G	7: 138,496,445 (GRCm39)	S88P	probably damaging	Het
Ccr2	A	G	9: 123,906,176 (GRCm39)	Y152C	probably damaging	Het
Cd28	T	C	1: 60,804,505 (GRCm39)	L161P	probably damaging	Het
Clcn4	C	T	7: 7,299,797 (GRCm39)	V11M	probably benign	Het
Clec4g	T	A	8: 3,757,713 (GRCm39)	S79C	unknown	Het
Cux1	A	T	5: 136,337,116 (GRCm39)	S799T	probably benign	Het
Cyp2t4	A	T	7: 26,857,611 (GRCm39)	H408L	probably damaging	Het
Cyp3a41a	A	T	5: 145,652,326 (GRCm39)	W58R	possibly damaging	Het
Dicer1	A	G	12: 104,672,484 (GRCm39)	V921A	probably damaging	Het
Dpysl3	A	G	18: 43,491,313 (GRCm39)	L268P	probably damaging	Het
Dus3l	G	A	17: 57,076,770 (GRCm39)	V626I	probably benign	Het
Epb41	C	A	4: 131,655,820 (GRCm39)	D337Y		Het
Fer1l6	A	G	15: 58,422,113 (GRCm39)	T104A	probably benign	Het
Fgd4	T	C	16: 16,302,202 (GRCm39)	T118A	probably benign	Het
Gabra4	T	A	5: 71,798,415 (GRCm39)	Y188F	possibly damaging	Het
Gm28168	A	T	1: 117,875,824 (GRCm39)	H151L	probably damaging	Het
Gm7995	A	G	14: 42,133,395 (GRCm39)	I91V		Het
Heg1	A	G	16: 33,541,298 (GRCm39)	E485G	probably benign	Het
Hirip3	A	G	7: 126,462,021 (GRCm39)	D73G	probably benign	Het
Igdcc3	A	G	9: 65,091,332 (GRCm39)	D684G	probably benign	Het
Kif15	A	G	9: 122,815,712 (GRCm39)	E502G	probably damaging	Het
Lrrc31	C	T	3: 30,743,423 (GRCm39)	V181I	probably damaging	Het
Lrrc7	G	T	3: 157,882,954 (GRCm39)	S446R	possibly damaging	Het
Lyst	A	G	13: 13,831,526 (GRCm39)	E1650G	probably benign	Het
Map3k6	A	G	4: 132,975,419 (GRCm39)	Y718C	possibly damaging	Het
Mta1	T	C	12: 113,095,384 (GRCm39)		probably null	Het
Muc16	C	T	9: 18,553,874 (GRCm39)	G4140R	unknown	Het
Nfe2l1	A	C	11: 96,710,944 (GRCm39)	I428M	probably benign	Het
Nup210l	T	A	3: 90,051,469 (GRCm39)	Y538N	possibly damaging	Het
Nxpe4	G	A	9: 48,304,248 (GRCm39)	V112M	probably benign	Het
Or1e16	C	T	11: 73,286,025 (GRCm39)	M274I	probably benign	Het
Or4c112	T	A	2: 88,854,296 (GRCm39)	Q17L	possibly damaging	Het
Or4k40	T	A	2: 111,250,737 (GRCm39)	K186N	probably benign	Het
Or52d3	G	T	7: 104,229,434 (GRCm39)	A194S	probably damaging	Het
Or8g24	G	A	9: 38,989,874 (GRCm39)	H56Y	possibly damaging	Het
Palm	A	G	10: 79,655,039 (GRCm39)	T266A	possibly damaging	Het
Pdzph1	T	G	17: 59,257,262 (GRCm39)	K925N	probably damaging	Het
Pfkfb3	G	T	2: 11,491,058 (GRCm39)	Q179K	probably benign	Het
Phtf1	A	G	3: 103,901,214 (GRCm39)	Q421R	possibly damaging	Het
Pip5k1b	A	T	19: 24,356,318 (GRCm39)	S207T	probably damaging	Het
Pkd2	T	C	5: 104,626,790 (GRCm39)	V324A	probably damaging	Het
Plcxd1	A	T	5: 110,251,477 (GRCm39)	N351I	probably damaging	Het
Prr14l	G	A	5: 32,988,023 (GRCm39)	P491S	probably benign	Het
Rxfp2	A	T	5: 149,966,564 (GRCm39)	R101*	probably null	Het
Saxo2	T	G	7: 82,292,881 (GRCm39)	K72T	probably benign	Het
Sema3b	T	A	9: 107,481,013 (GRCm39)	D108V	probably damaging	Het
Sh3gl2	A	G	4: 85,295,748 (GRCm39)	D150G	probably damaging	Het
Slc6a12	G	A	6: 121,340,704 (GRCm39)	M544I	probably benign	Het
Spag6l	T	C	16: 16,646,981 (GRCm39)		probably null	Het
Stat3	A	G	11: 100,785,593 (GRCm39)	F512L	probably benign	Het
Tjp3	C	T	10: 81,109,645 (GRCm39)	E853K	probably benign	Het
Tmem30c	A	T	16: 57,111,180 (GRCm39)	S31T	probably benign	Het
Tpte	A	T	8: 22,841,493 (GRCm39)	D495V	probably damaging	Het
Ugt2b5	A	T	5: 87,287,522 (GRCm39)	M215K	probably damaging	Het
Vinac1	T	C	2: 128,875,529 (GRCm39)	S1246G	unknown	Het
Vsig2	T	C	9: 37,451,771 (GRCm39)	L135S	probably benign	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
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
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'- AGCAGGATCAATTCTTCCTCC -3'
(R):5'- AGTGCTTTGTGTGGAAACGC -3'

Sequencing Primer
(F):5'- AGTGCTACACCGGCTTCTC -3'
(R):5'- TGTGTGGAAACGCTGAAACTTCC -3'

Posted On

2022-10-06