Mutagenetix > Incidental Mutation

Incidental Mutation 'R1536:Stk35'

271575

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

039575-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1536 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129800517-129832287 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 129811235 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132862 (fasta)

Gene Model

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

AlphaFold

Q80ZW0

Predicted Effect

probably benign
Transcript: ENSMUST00000165413

SMART Domains

Protein: ENSMUSP00000126541
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	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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.5%

Validation Efficiency

98% (59/60)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	T	5: 87,970,665 (GRCm38)	I3F	probably benign	Het
4930590J08Rik	A	G	6: 91,917,035 (GRCm38)	N211S	probably benign	Het
A2ml1	A	T	6: 128,547,233 (GRCm38)	Y1145*	probably null	Het
Abca7	A	G	10: 80,014,230 (GRCm38)	D1972G	probably benign	Het
Adamts19	A	T	18: 59,052,615 (GRCm38)	D1187V	probably damaging	Het
Adcy6	G	C	15: 98,600,007 (GRCm38)	I421M	probably damaging	Het
Afap1	C	A	5: 35,974,491 (GRCm38)	H387Q	probably damaging	Het
Atp8b1	C	T	18: 64,545,264 (GRCm38)	V854M	probably damaging	Het
Auts2	C	T	5: 131,487,463 (GRCm38)		probably benign	Het
Cbll1	T	C	12: 31,487,856 (GRCm38)	D300G	probably damaging	Het
Cd200r4	A	T	16: 44,833,049 (GRCm38)	T61S	possibly damaging	Het
Chmp4c	G	T	3: 10,389,684 (GRCm38)	V207L	probably benign	Het
Cntn5	T	C	9: 9,976,316 (GRCm38)	T413A	possibly damaging	Het
Cox7a2	T	A	9: 79,758,581 (GRCm38)		probably null	Het
Cwc27	A	G	13: 104,797,306 (GRCm38)	L236P	probably damaging	Het
Diaph1	A	G	18: 37,896,093 (GRCm38)		probably null	Het
Dst	T	A	1: 34,260,372 (GRCm38)		probably benign	Het
Ear1	T	A	14: 43,819,126 (GRCm38)	H95L	probably damaging	Het
Enpp1	T	A	10: 24,641,834 (GRCm38)	H898L	probably benign	Het
Entpd5	G	A	12: 84,382,295 (GRCm38)	R321*	probably null	Het
Ercc6l2	C	A	13: 63,824,871 (GRCm38)	N177K	possibly damaging	Het
Ergic1	T	C	17: 26,641,706 (GRCm38)		probably null	Het
Erich6	A	T	3: 58,626,598 (GRCm38)	I336N	probably benign	Het
Fmnl2	A	G	2: 53,105,537 (GRCm38)	E424G	probably damaging	Het
Galnt3	A	T	2: 66,084,206 (GRCm38)	D622E	probably damaging	Het
Gjd4	T	A	18: 9,280,569 (GRCm38)	T170S	probably damaging	Het
Gm5611	G	A	9: 17,030,607 (GRCm38)		noncoding transcript	Het
Gpc5	T	A	14: 115,399,250 (GRCm38)	N448K	probably benign	Het
Klra3	G	C	6: 130,333,144 (GRCm38)	R138G	probably benign	Het
Maco1	A	G	4: 134,804,507 (GRCm38)	V617A	probably damaging	Het
Man2b2	T	C	5: 36,820,927 (GRCm38)	T338A	probably benign	Het
Mbtps1	A	T	8: 119,546,125 (GRCm38)	S94T	probably benign	Het
Muc3a	A	T	5: 137,210,081 (GRCm38)	S205T	unknown	Het
Nav2	C	A	7: 49,545,934 (GRCm38)	D1019E	probably damaging	Het
Neurl4	T	A	11: 69,903,426 (GRCm38)	L236*	probably null	Het
Or13c25	A	G	4: 52,911,260 (GRCm38)	V178A	probably benign	Het
Plcxd3	T	C	15: 4,516,611 (GRCm38)		probably benign	Het
Pprc1	T	C	19: 46,071,526 (GRCm38)		probably benign	Het
Prkaa2	T	A	4: 105,075,450 (GRCm38)	N67I	probably damaging	Het
Prom1	T	A	5: 44,018,353 (GRCm38)	Y508F	probably benign	Het
Prx	A	G	7: 27,517,258 (GRCm38)	M534V	probably damaging	Het
Rps6kc1	C	T	1: 190,871,768 (GRCm38)	R219Q	possibly damaging	Het
Sbf2	T	C	7: 110,378,043 (GRCm38)	Y628C	probably damaging	Het
Slc1a2	A	T	2: 102,777,510 (GRCm38)	D501V	probably benign	Het
Spata31	A	T	13: 64,921,382 (GRCm38)	Q448L	probably damaging	Het
Stxbp5	T	A	10: 9,838,092 (GRCm38)	R234S	probably damaging	Het
Tifab	A	G	13: 56,176,288 (GRCm38)	V114A	probably benign	Het
Tiprl	A	G	1: 165,228,406 (GRCm38)	M49T	probably benign	Het
Tlr12	A	G	4: 128,617,752 (GRCm38)	L235P	possibly damaging	Het
Trim43b	A	T	9: 89,085,358 (GRCm38)	C407*	probably null	Het
Txndc17	C	A	11: 72,207,707 (GRCm38)	F28L	probably damaging	Het
Vmn2r27	T	C	6: 124,200,690 (GRCm38)	R452G	probably damaging	Het
Vmn2r3	T	A	3: 64,275,117 (GRCm38)	D387V	probably damaging	Het
Vps13b	T	C	15: 35,875,566 (GRCm38)	I2699T	probably damaging	Het
Zfp944	G	T	17: 22,339,716 (GRCm38)	Y183*	probably null	Het

Other mutations in Stk35

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00850:Stk35	APN	2	129,801,992 (GRCm38)	missense	probably damaging	1.00
IGL02609:Stk35	APN	2	129,801,801 (GRCm38)	missense	probably damaging	1.00
fingernails	UTSW	2	129,810,935 (GRCm38)	missense	probably damaging	1.00
R2256_Stk35_331	UTSW	2	129,810,507 (GRCm38)	nonsense	probably null
skinned	UTSW	2	129,811,235 (GRCm38)	intron	probably benign
R0045:Stk35	UTSW	2	129,800,568 (GRCm38)	nonsense	probably null
R0306:Stk35	UTSW	2	129,801,763 (GRCm38)	nonsense	probably null
R0784:Stk35	UTSW	2	129,810,802 (GRCm38)	nonsense	probably null
R2256:Stk35	UTSW	2	129,810,507 (GRCm38)	nonsense	probably null
R2507:Stk35	UTSW	2	129,801,515 (GRCm38)	missense	probably damaging	0.97
R2508:Stk35	UTSW	2	129,801,515 (GRCm38)	missense	probably damaging	0.97
R3848:Stk35	UTSW	2	129,800,736 (GRCm38)	missense	probably benign	0.13
R3872:Stk35	UTSW	2	129,810,575 (GRCm38)	missense	possibly damaging	0.82
R4466:Stk35	UTSW	2	129,801,516 (GRCm38)	missense	probably damaging	0.99
R5144:Stk35	UTSW	2	129,810,935 (GRCm38)	missense	probably damaging	1.00
R6267:Stk35	UTSW	2	129,810,888 (GRCm38)	nonsense	probably null
R6296:Stk35	UTSW	2	129,810,888 (GRCm38)	nonsense	probably null
R6480:Stk35	UTSW	2	129,810,687 (GRCm38)	missense	possibly damaging	0.95
R6807:Stk35	UTSW	2	129,801,653 (GRCm38)	missense	probably damaging	0.97
R7203:Stk35	UTSW	2	129,801,593 (GRCm38)	missense	probably benign
R7476:Stk35	UTSW	2	129,810,725 (GRCm38)	missense	probably damaging	1.00
R8505:Stk35	UTSW	2	129,801,729 (GRCm38)	missense	probably damaging	0.99
R8998:Stk35	UTSW	2	129,810,589 (GRCm38)	missense	probably damaging	1.00
R8999:Stk35	UTSW	2	129,810,589 (GRCm38)	missense	probably damaging	1.00
R9224:Stk35	UTSW	2	129,810,571 (GRCm38)	missense	probably damaging	1.00
R9760:Stk35	UTSW	2	129,800,685 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTGGTGAGGCGCTGCTAGAAAACC -3'
(R):5'- CCATGAACAAGCAAGCACAGTTGGG -3'

Sequencing Primer
(F):5'- AAGATGGAGTTGCATATCCCC -3'
(R):5'- CTGAAGAACTTGAAAGATTCAGCCTC -3'

Posted On

2015-03-23