Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00850:Stk35'

14275

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 #

IGL00850

Quality Score

Status

Chromosome

Chromosomal Location

129800517-129832287 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129801992 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 299 (T299A)

Ref Sequence

ENSEMBL: ENSMUSP00000132862 (fasta)

Gene Model

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

AlphaFold

Q80ZW0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165413
AA Change: T299A

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126541
Gene: ENSMUSG00000037885
AA Change: T299A

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: T299A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000132862
Gene: ENSMUSG00000037885
AA Change: T299A

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cand1	C	A	10: 119,211,135	V817L	probably benign	Het
Cdc16	T	G	8: 13,767,575	Y295*	probably null	Het
Cdk12	T	A	11: 98,222,665	N758K	unknown	Het
Cep295	A	G	9: 15,322,852	L2216S	probably benign	Het
Chpf2	A	G	5: 24,592,261	E735G	probably damaging	Het
Chrdl2	A	G	7: 100,034,641	T432A	probably damaging	Het
Cyp4a12b	T	A	4: 115,438,049		probably null	Het
D130043K22Rik	T	G	13: 24,867,174	D464E	probably damaging	Het
Dst	G	T	1: 34,306,624	A7622S	probably damaging	Het
Fdx1	A	T	9: 51,948,649	I127N	probably damaging	Het
Fem1a	A	G	17: 56,258,355	I483V	possibly damaging	Het
Gcc2	C	A	10: 58,258,248	D51E	probably benign	Het
Glrb	A	G	3: 80,861,781	S178P	probably damaging	Het
Inpp4b	A	G	8: 81,856,750	Q161R	probably damaging	Het
Lrrc45	T	C	11: 120,720,610		probably benign	Het
Myh3	T	C	11: 67,090,855	Y757H	probably damaging	Het
Myo1h	A	C	5: 114,315,071		probably benign	Het
Nudt13	T	A	14: 20,306,350	S114R	probably damaging	Het
Omg	T	C	11: 79,502,714	N106S	possibly damaging	Het
Pbrm1	T	C	14: 31,087,619	V1163A	probably damaging	Het
Pi4k2b	T	A	5: 52,760,950	Y350*	probably null	Het
Prr29	C	A	11: 106,375,207	T32K	possibly damaging	Het
Psd4	C	T	2: 24,394,286	A54V	probably benign	Het
Scd3	A	G	19: 44,235,808	H160R	probably damaging	Het
Shroom3	T	C	5: 92,951,065	L1387P	probably damaging	Het
Thsd7b	G	A	1: 130,165,077	S1238N	probably benign	Het
Utp11	T	C	4: 124,682,457	K131R	probably benign	Het
Vps50	C	T	6: 3,532,177	Q227*	probably null	Het
Zan	T	C	5: 137,464,113	T935A	unknown	Het

Other mutations in Stk35

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R8999:Stk35	UTSW	2	129810589	missense	probably damaging	1.00
R9224:Stk35	UTSW	2	129810571	missense	probably damaging	1.00

Posted On

2012-12-06