Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02609:Stk35'

300418

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02609

Quality Score

Status

Chromosome

Chromosomal Location

129800517-129832287 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129801801 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 235 (V235A)

Ref Sequence

ENSEMBL: ENSMUSP00000132862 (fasta)

Gene Model

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

AlphaFold

Q80ZW0

Predicted Effect

probably damaging
Transcript: ENSMUST00000165413
AA Change: V235A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000126541
Gene: ENSMUSG00000037885
AA Change: V235A

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 damaging
Transcript: ENSMUST00000166282
AA Change: V235A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132862
Gene: ENSMUSG00000037885
AA Change: V235A

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

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210407C18Rik	A	T	11: 58,612,616	C29S	probably damaging	Het
A930011G23Rik	A	G	5: 99,233,995		probably benign	Het
Adcy10	T	G	1: 165,538,475	Y520*	probably null	Het
Agrn	A	T	4: 156,175,223		probably benign	Het
AI661453	A	T	17: 47,468,372		probably benign	Het
Arhgap6	A	G	X: 169,178,066		probably benign	Het
Asxl2	T	C	12: 3,500,018	S587P	probably damaging	Het
B3gntl1	A	G	11: 121,644,601		probably benign	Het
Bahcc1	T	C	11: 120,289,398	F2527L	possibly damaging	Het
Baz2b	T	A	2: 59,917,369	M1317L	possibly damaging	Het
Bcas3	A	T	11: 85,457,894	K204I	probably damaging	Het
C1qtnf1	T	C	11: 118,448,004	F167L	probably damaging	Het
Cfap58	C	T	19: 47,975,502	T523M	possibly damaging	Het
Ddb1	T	A	19: 10,622,466	C680S	possibly damaging	Het
Eef1d	T	C	15: 75,896,313	Q200R	probably null	Het
Gm10717	A	T	9: 3,026,287	Y195F	probably damaging	Het
Gm28557	T	A	13: 67,071,019	K214*	probably null	Het
Gm438	T	A	4: 144,779,737	D128V	probably damaging	Het
Gm8229	A	C	14: 44,366,625	E90D	probably benign	Het
Hhla1	T	C	15: 65,930,614		probably benign	Het
Hivep1	C	T	13: 42,155,654	H457Y	probably damaging	Het
Htr2c	T	C	X: 147,193,760		probably benign	Het
Ifi44	A	T	3: 151,732,497	S384R	probably damaging	Het
Impad1	T	A	4: 4,767,763	R338*	probably null	Het
Kirrel2	T	C	7: 30,448,340	T628A	probably benign	Het
Kmt2d	T	C	15: 98,851,793		probably benign	Het
Larp4b	T	A	13: 9,170,680	I655N	probably damaging	Het
Lrrd1	G	A	5: 3,858,803	V692I	probably benign	Het
Mum1	A	T	10: 80,230,083	E57V	probably damaging	Het
Nes	T	C	3: 87,977,221	I929T	probably benign	Het
Ogfr	T	C	2: 180,592,515		probably benign	Het
Rfx2	G	T	17: 56,805,404	P43Q	probably benign	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Sh3tc1	T	C	5: 35,707,172	K495R	probably damaging	Het
Slit1	A	T	19: 41,602,304	C1310S	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Syde2	T	G	3: 145,998,520	V142G	probably benign	Het
Tgfb3	A	G	12: 86,077,839	F32L	probably benign	Het
Tmem35a	T	C	X: 134,304,697	F121L	probably damaging	Het
Trp53bp2	T	A	1: 182,453,724	D963E	probably benign	Het
Vmn1r26	A	G	6: 58,008,875	S110P	probably damaging	Het
Vpreb2	T	C	16: 17,980,694		probably benign	Het
Xrn2	A	T	2: 147,050,025	T721S	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
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
R8999:Stk35	UTSW	2	129810589	missense	probably damaging	1.00
R9224:Stk35	UTSW	2	129810571	missense	probably damaging	1.00

Posted On

2015-04-16