Mutagenetix > Incidental Mutations

Incidental Mutation 'R0306:Stk35'

35783

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

038517-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0306 (G1)

Quality Score

157

Status

Validated

Chromosome

Chromosomal Location

129800517-129832287 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 129801763 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 222 (Y222*)

Ref Sequence

ENSEMBL: ENSMUSP00000132862 (fasta)

Gene Model

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

AlphaFold

Q80ZW0

Predicted Effect

probably null
Transcript: ENSMUST00000165413
AA Change: Y222*

SMART Domains

Protein: ENSMUSP00000126541
Gene: ENSMUSG00000037885
AA Change: Y222*

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 null
Transcript: ENSMUST00000166282
AA Change: Y222*

SMART Domains

Protein: ENSMUSP00000132862
Gene: ENSMUSG00000037885
AA Change: Y222*

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

Meta Mutation Damage Score

0.9591

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

94% (61/65)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,179,889	V270A	probably damaging	Het
BC028528	C	T	3: 95,889,820		probably benign	Het
Bspry	T	C	4: 62,496,157	F329S	probably damaging	Het
Cd209a	A	G	8: 3,745,535	Y120H	probably benign	Het
Ces1f	T	C	8: 93,276,544		probably benign	Het
Cfap52	T	C	11: 67,954,070	N58D	probably benign	Het
Cfap74	G	A	4: 155,465,439		probably benign	Het
Chst8	T	C	7: 34,675,298	E372G	probably benign	Het
Ddx49	A	G	8: 70,294,672		probably benign	Het
Ddx52	G	T	11: 83,944,648	L133F	probably benign	Het
Defb26	T	A	2: 152,507,968	I131F	unknown	Het
Dip2c	T	A	13: 9,604,599	S719T	probably benign	Het
Dnmt3a	A	G	12: 3,866,096	S94G	possibly damaging	Het
Doxl2	T	C	6: 48,976,086	V315A	probably damaging	Het
Dytn	G	A	1: 63,685,113	P3S	possibly damaging	Het
Fmn2	T	C	1: 174,609,484		probably benign	Het
Gal3st1	T	A	11: 3,998,546	L251Q	probably damaging	Het
Gm19684	A	T	17: 36,127,408		probably benign	Het
Il15	T	A	8: 82,334,454		probably benign	Het
Jag1	C	T	2: 137,085,935	G852D	probably damaging	Het
Kbtbd4	A	G	2: 90,914,186		probably benign	Het
Kdm3b	C	A	18: 34,804,017	Q451K	probably benign	Het
Lrfn2	A	T	17: 49,096,255	I469F	probably damaging	Het
Mep1a	A	T	17: 43,502,643		probably benign	Het
Morn5	T	C	2: 36,054,974	F70S	probably damaging	Het
Nav2	C	A	7: 49,545,903	P1009Q	probably benign	Het
Noc3l	T	C	19: 38,807,650	Y334C	probably damaging	Het
Nsun4	A	T	4: 116,052,822	Y180*	probably null	Het
Nup210l	T	C	3: 90,207,368	I1750T	probably benign	Het
Olfr1044	T	A	2: 86,171,716	I34F	possibly damaging	Het
Olfr473	A	T	7: 107,933,700	Y60F	probably damaging	Het
Olfr571	A	T	7: 102,909,803	I12N	probably benign	Het
Parp14	A	G	16: 35,856,574	L1008P	probably benign	Het
Paxbp1	A	G	16: 91,022,115	V759A	possibly damaging	Het
Prdm10	C	A	9: 31,316,224	Q42K	probably damaging	Het
Prkcsh	T	C	9: 22,006,526		probably benign	Het
Psmg1	A	G	16: 95,987,340	C138R	probably damaging	Het
Ptprb	T	C	10: 116,343,988	M1437T	probably benign	Het
Ryr3	A	G	2: 112,775,655		probably null	Het
Serpinf1	T	C	11: 75,413,935	Y200C	probably damaging	Het
Shox2	T	C	3: 66,973,834	H130R	probably damaging	Het
Slc22a1	A	G	17: 12,662,598	F335L	probably benign	Het
Slc44a5	A	G	3: 154,270,001	N683S	probably damaging	Het
Slc9a9	A	T	9: 95,137,934	T519S	probably benign	Het
Smarca2	T	A	19: 26,640,613	L348Q	probably damaging	Het
Sorbs1	T	C	19: 40,344,411	D521G	possibly damaging	Het
Sorbs2	A	T	8: 45,795,730	T593S	probably benign	Het
Srp19	T	C	18: 34,334,576		probably benign	Het
Syt10	T	G	15: 89,826,988	K114T	probably benign	Het
Tcam1	G	A	11: 106,284,078	E120K	probably benign	Het
Trpc4ap	A	G	2: 155,636,260	V662A	probably benign	Het
Ttll4	G	A	1: 74,696,757	R1066Q	probably benign	Het
Tulp2	C	T	7: 45,518,576		probably benign	Het
Unc5b	C	A	10: 60,779,658		probably benign	Het
Vmn1r230	T	A	17: 20,846,633	I28K	possibly damaging	Het
Vmn2r118	A	C	17: 55,608,616	F445V	possibly damaging	Het
Zfp142	C	T	1: 74,570,182	E1485K	probably damaging	Het
Zfp819	C	A	7: 43,617,197	A292E	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
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
R8999: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'- TCTCGCCCTTAGATCACCATCCAAG -3'
(R):5'- CTGTAGGACGCACTCCTCAAACTG -3'

Sequencing Primer
(F):5'- AGTCCAGCGGGTACTGTG -3'
(R):5'- CTCAAACTGCACGATATTCTGGTG -3'

Posted On

2013-05-09