Mutagenetix > Incidental Mutation

Incidental Mutation 'R7476:Stk35'

579469

Institutional Source

Beutler Lab

Gene Symbol

Stk35

Ensembl Gene

ENSMUSG00000037885

Gene Name

serine/threonine kinase 35

Synonyms

1700054C12Rik, CLIK1, CLP-36 interacting kinase

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7476 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129800517-129832287 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129810725 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 382 (L382P)

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: L382P

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

SMART Domains

Protein: ENSMUSP00000126541
Gene: ENSMUSG00000037885
AA Change: L382P

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: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	C	T	6: 52,179,034	P27S	unknown	Het
Abi3bp	A	T	16: 56,614,746	K602*	probably null	Het
Adam29	G	T	8: 55,873,195	H75N	probably damaging	Het
Ajap1	C	T	4: 153,384,855	E373K	probably damaging	Het
Alg6	C	A	4: 99,743,876	H206N	probably damaging	Het
Alox5	A	T	6: 116,415,433	S376T	probably benign	Het
Arhgap19	A	T	19: 41,782,363	Y321N	probably benign	Het
Brip1	A	G	11: 86,157,808	V236A	probably benign	Het
C1ra	C	T	6: 124,522,699	P615S	probably damaging	Het
Ccdc69	C	T	11: 55,051,198	V161I	possibly damaging	Het
Chil5	G	A	3: 106,020,007	R163C	possibly damaging	Het
Cldnd1	A	G	16: 58,729,544	D30G	probably damaging	Het
Colca2	G	A	9: 51,277,600	A19V	possibly damaging	Het
Csmd1	A	G	8: 15,895,731	C3561R	probably damaging	Het
Daxx	T	G	17: 33,911,281	V90G	probably damaging	Het
Dgkg	T	A	16: 22,622,304		probably benign	Het
Dmrta2	A	G	4: 109,982,025	H323R	probably damaging	Het
Dysf	A	T	6: 84,064,896	T161S	probably benign	Het
Fat1	G	T	8: 45,031,274	R3183L	probably benign	Het
Fcho1	C	A	8: 71,713,546	D347Y	probably damaging	Het
Gm21798	T	C	15: 64,817,706	C5R	unknown	Het
Hmcn1	T	C	1: 150,580,267	R5301G	probably damaging	Het
Hoxd11	T	C	2: 74,684,115	F330L	probably damaging	Het
Lactbl1	A	G	4: 136,637,639	D434G	probably benign	Het
Lgals8	A	T	13: 12,448,481	N191K	probably damaging	Het
Lmod2	T	A	6: 24,597,921	Y13*	probably null	Het
Malrd1	T	C	2: 16,142,304	S1986P	unknown	Het
Map3k9	C	T	12: 81,743,808	D324N	probably damaging	Het
Mcmbp	C	A	7: 128,703,582	K487N	probably damaging	Het
Mrpl4	G	T	9: 21,002,771		probably benign	Het
Nectin2	T	C	7: 19,717,621	D496G	possibly damaging	Het
Nom1	T	C	5: 29,442,536	S590P	probably benign	Het
Noto	T	C	6: 85,425,499	F156L	probably damaging	Het
Nrf1	T	A	6: 30,116,272	D314E	probably damaging	Het
Nup93	T	C	8: 94,303,632	L373P	probably damaging	Het
Olfr1002	T	A	2: 85,648,168	Q51L	not run	Het
Olfr1168	A	T	2: 88,184,966	M30L	probably benign	Het
Olfr1205	A	G	2: 88,831,588	Q157R	probably benign	Het
Olfr1239	T	C	2: 89,417,499	K305E	possibly damaging	Het
Olfr1369-ps1	A	C	13: 21,116,021	I110L	probably benign	Het
Olfr1412	A	C	1: 92,589,264	R311S	probably benign	Het
Pclo	A	T	5: 14,521,331	K243N	probably damaging	Het
Pdgfra	T	A	5: 75,170,603	C290S	probably damaging	Het
Pnlip	G	A	19: 58,679,634		probably null	Het
Ptprm	A	T	17: 66,725,791	H1022Q	probably benign	Het
Rfx2	T	C	17: 56,803,527	D153G	probably benign	Het
Rps6ka2	T	C	17: 7,271,633	F317L	probably damaging	Het
Rtl1	T	A	12: 109,591,105	E1433D	unknown	Het
Sarnp	A	G	10: 128,833,354	T27A	probably benign	Het
Shc3	A	T	13: 51,448,006	M295K	probably benign	Het
Slc1a3	T	A	15: 8,643,084	M304L	probably damaging	Het
Slco1a6	G	T	6: 142,103,001	T351K	possibly damaging	Het
Snrk	A	G	9: 122,157,222	N219S	probably damaging	Het
Spats2	T	A	15: 99,212,141	V473E	probably benign	Het
Tbx10	T	C	19: 3,999,034	V315A	probably benign	Het
Tdpoz1	A	G	3: 93,670,775	L234P	probably damaging	Het
Ttn	T	G	2: 76,714,145	E32832D	probably benign	Het
Ttn	T	C	2: 76,771,186	Y18678C	probably damaging	Het
Ugt2a2	A	T	5: 87,474,494	M205K	probably damaging	Het
Utrn	C	A	10: 12,640,951	V2300L	probably benign	Het
Vmn1r175	T	C	7: 23,808,422	N260S	probably benign	Het
Vmn1r63	T	A	7: 5,803,001	I211L	probably benign	Het
Vmn1r83	A	G	7: 12,321,615	W172R	possibly damaging	Het
Xirp2	T	C	2: 67,510,634	L1073P	probably benign	Het
Zfp82	A	G	7: 30,056,172	V495A	possibly damaging	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
R8505:Stk35	UTSW	2	129801729	missense	probably damaging	0.99
R8998:Stk35	UTSW	2	129810589	missense	probably damaging	1.00
R8999:Stk35	UTSW	2	129810589	missense	probably damaging	1.00
R9224:Stk35	UTSW	2	129810571	missense	probably damaging	1.00
R9760:Stk35	UTSW	2	129800685	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAGGATCCTGGGCTATGCTGAG -3'
(R):5'- GCCTTGGCTGTATAGTGTCC -3'

Sequencing Primer
(F):5'- TATGCTGAGGAGCCCTGCTATC -3'
(R):5'- GGCTGTATAGTGTCCCTCCCAG -3'

Posted On

2019-10-07