Mutagenetix > Incidental Mutations

Incidental Mutation 'R8999:Stk35'

684847

Institutional Source

Beutler Lab

Gene Symbol

Stk35

Ensembl Gene

ENSMUSG00000037885

Gene Name

serine/threonine kinase 35

Synonyms

1700054C12Rik, CLIK1, CLP-36 interacting kinase

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8999 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129800517-129832287 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 129810589 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 337 (P337T)

Ref Sequence

ENSEMBL: ENSMUSP00000126541 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165413] [ENSMUST00000166282]

AlphaFold

Q80ZW0

Predicted Effect

probably damaging
Transcript: ENSMUST00000165413
AA Change: P337T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126541
Gene: ENSMUSG00000037885
AA Change: P337T

Domain	Start	End	E-Value	Type
low complexity region	51	69	N/A	INTRINSIC
low complexity region	115	137	N/A	INTRINSIC
low complexity region	190	206	N/A	INTRINSIC
Pfam:Pkinase_Tyr	207	295	2e-6	PFAM
Pfam:Pkinase	207	531	8.6e-51	PFAM
Pfam:Pkinase_Tyr	304	532	2.1e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166282

SMART Domains

Protein: ENSMUSP00000132862
Gene: ENSMUSG00000037885

Domain	Start	End	E-Value	Type
low complexity region	51	69	N/A	INTRINSIC
low complexity region	115	137	N/A	INTRINSIC
low complexity region	190	206	N/A	INTRINSIC
Pfam:Pkinase_Tyr	207	300	5.9e-7	PFAM
Pfam:Pkinase	207	311	1e-9	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

100% (47/47)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a kinase that is predominantly found in the nucleus. However, it can interact with PDLIM1/CLP-36 in the cytoplasm and localize to actin stress fibers. The encoded protein may be a regulator of actin stress fibers in nonmuscle cells. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aipl1	T	C	11: 72,030,257	E245G	possibly damaging	Het
Armc4	C	A	18: 7,211,574	V767L	possibly damaging	Het
Cd6	A	T	19: 10,799,278	C128S	probably damaging	Het
Cep41	T	C	6: 30,666,166	D98G	probably benign	Het
Cfap52	T	C	11: 67,927,311	K525E	probably damaging	Het
Ddx10	T	C	9: 53,229,234	E289G	possibly damaging	Het
Dnah1	T	C	14: 31,296,278	T1428A	probably benign	Het
Dsg3	T	C	18: 20,533,627	L631P	probably damaging	Het
Dusp19	T	A	2: 80,630,927	C187S	probably benign	Het
Fap	T	C	2: 62,537,024	H338R	probably benign	Het
Fxyd2	T	C	9: 45,402,997		probably benign	Het
Gabrg1	T	A	5: 70,816,035	I59F	probably benign	Het
Glb1l3	A	T	9: 26,853,618		probably null	Het
Gm11639	A	T	11: 104,749,651	M1072L	probably benign	Het
Gm11756	G	C	4: 73,919,183	N99K	probably damaging	Het
Gpr27	T	C	6: 99,692,815	I46T	possibly damaging	Het
Igkv8-26	C	A	6: 70,193,530	A35E	probably benign	Het
Ikzf1	A	G	11: 11,685,013		probably benign	Het
Krt18	A	C	15: 102,031,439	E357D	probably damaging	Het
Lbr	C	T	1: 181,818,947	G470E	probably damaging	Het
Map2	A	T	1: 66,413,314	K454N	possibly damaging	Het
Map2k3	T	C	11: 60,949,991	V282A		Het
Men1	G	A	19: 6,339,930	V538I	probably benign	Het
Mfn1	T	A	3: 32,569,534	M621K	possibly damaging	Het
Mpdz	C	A	4: 81,284,645	G1838*	probably null	Het
Mypn	A	T	10: 63,162,271	L420*	probably null	Het
Nkx6-1	T	C	5: 101,664,216	M7V	unknown	Het
Notum	G	A	11: 120,654,381	H451Y	probably benign	Het
Olfr1367	A	G	13: 21,347,818	K297E	probably damaging	Het
Olfr266	A	T	3: 106,821,683	I292N	probably damaging	Het
Olfr788	A	G	10: 129,473,517	N275S	probably benign	Het
Pabpc4l	A	C	3: 46,446,348	I287S	probably benign	Het
Pcdha2	C	T	18: 36,940,375	T353M	possibly damaging	Het
Plekha1	T	C	7: 130,908,469	I315T	unknown	Het
Ppp2r2b	C	T	18: 42,737,928	A106T	probably benign	Het
Prkch	T	C	12: 73,696,199	V209A	probably damaging	Het
Ptprc	A	G	1: 138,101,192	C284R	probably damaging	Het
Ptprf	A	G	4: 118,226,474	V804A	probably benign	Het
Rbp3	C	T	14: 33,962,403	R1130*	probably null	Het
Serpina6	C	G	12: 103,651,729	R275P	probably damaging	Het
Six3	T	A	17: 85,623,736	H273Q	probably benign	Het
Supt5	A	G	7: 28,338,423	S2P	unknown	Het
Tnik	A	G	3: 28,665,771	Y1264C	probably damaging	Het
Trim45	A	G	3: 100,931,644	T621A	unknown	Het
Tyrp1	T	C	4: 80,844,857	L327P	probably damaging	Het
Vmn2r69	A	C	7: 85,411,099	S426A	probably benign	Het

Other mutations in Stk35

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00850:Stk35	APN	2	129801992	missense	probably damaging	1.00
IGL02609:Stk35	APN	2	129801801	missense	probably damaging	1.00
fingernails	UTSW	2	129810935	missense	probably damaging	1.00
R2256_Stk35_331	UTSW	2	129810507	nonsense	probably null
skinned	UTSW	2	129811235	intron	probably benign
R0045:Stk35	UTSW	2	129800568	nonsense	probably null
R0306:Stk35	UTSW	2	129801763	nonsense	probably null
R0784:Stk35	UTSW	2	129810802	nonsense	probably null
R1536:Stk35	UTSW	2	129811235	intron	probably benign
R2256:Stk35	UTSW	2	129810507	nonsense	probably null
R2507:Stk35	UTSW	2	129801515	missense	probably damaging	0.97
R2508:Stk35	UTSW	2	129801515	missense	probably damaging	0.97
R3848:Stk35	UTSW	2	129800736	missense	probably benign	0.13
R3872:Stk35	UTSW	2	129810575	missense	possibly damaging	0.82
R4466:Stk35	UTSW	2	129801516	missense	probably damaging	0.99
R5144:Stk35	UTSW	2	129810935	missense	probably damaging	1.00
R6267:Stk35	UTSW	2	129810888	nonsense	probably null
R6296:Stk35	UTSW	2	129810888	nonsense	probably null
R6480:Stk35	UTSW	2	129810687	missense	possibly damaging	0.95
R6807:Stk35	UTSW	2	129801653	missense	probably damaging	0.97
R7203:Stk35	UTSW	2	129801593	missense	probably benign
R7476:Stk35	UTSW	2	129810725	missense	probably damaging	1.00
R8505:Stk35	UTSW	2	129801729	missense	probably damaging	0.99
R8998:Stk35	UTSW	2	129810589	missense	probably damaging	1.00
R9224:Stk35	UTSW	2	129810571	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCGGGCATAGACTTTGCTTG -3'
(R):5'- ACAGACCTTGCTCAGTCCAAAG -3'

Sequencing Primer
(F):5'- CAGTTGTGTAGATCCTCATGGCAC -3'
(R):5'- CAAAGTCTGCCACCTTGAGGATG -3'

Posted On

2021-10-11