Mutagenetix > Incidental Mutations

Incidental Mutation 'R6480:Stk35'

517019

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6480 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129800517-129832287 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 129810687 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 369 (D369E)

Ref Sequence

ENSEMBL: ENSMUSP00000126541 (fasta)

Gene Model

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

AlphaFold

Q80ZW0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165413
AA Change: D369E

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000126541
Gene: ENSMUSG00000037885
AA Change: D369E

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: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.4%

Validation Efficiency

98% (57/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl8b	T	A	6: 108,815,049	N90K	possibly damaging	Het
Art3	T	C	5: 92,392,817	F140L	probably damaging	Het
Ascc3	T	A	10: 50,710,953	M967K	probably damaging	Het
Ccne1	G	A	7: 38,106,854		probably benign	Het
Cdc14b	T	C	13: 64,225,650		probably null	Het
Ceacam2	T	A	7: 25,519,989	E282V	probably damaging	Het
Clk4	T	A	11: 51,270,546	C86*	probably null	Het
Cul2	A	C	18: 3,417,561	K115T	possibly damaging	Het
Dhx29	A	T	13: 112,953,788	K800*	probably null	Het
Dlec1	T	C	9: 119,147,690	F1741S	probably benign	Het
Dnah12	A	G	14: 26,872,455	T3455A	probably damaging	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Drd4	A	T	7: 141,294,793	I366F	possibly damaging	Het
Fam169b	T	A	7: 68,353,718	Y273*	probably null	Het
Fbn1	T	A	2: 125,335,418	Y1833F	probably benign	Het
Fsip2	A	G	2: 82,990,086	T5388A	possibly damaging	Het
Gjb6	T	C	14: 57,124,442	I121V	probably benign	Het
Glg1	T	C	8: 111,197,706	T217A	possibly damaging	Het
Igkv5-48	A	G	6: 69,726,826	S32P	probably benign	Het
Itgax	C	A	7: 128,148,599	F1062L	probably benign	Het
Lct	G	A	1: 128,294,320	T1494I	probably damaging	Het
Lilra6	G	A	7: 3,912,933	T309I	probably damaging	Het
Mical3	T	C	6: 121,034,275	T321A	possibly damaging	Het
Mmp23	T	A	4: 155,652,341	N104I	probably damaging	Het
Muc3	T	C	5: 137,142,390	Y131C		Het
Naip2	A	C	13: 100,162,041	S496A	probably benign	Het
Ndufs2	A	G	1: 171,236,698	S348P	probably damaging	Het
Nepro	T	C	16: 44,727,075	S52P	probably damaging	Het
Nlrp6	A	G	7: 140,927,443	E874G	possibly damaging	Het
Nsmce1	A	G	7: 125,491,418	V9A	probably benign	Het
Olfr13	T	C	6: 43,174,066	F27L	probably benign	Het
Olfr1458	T	A	19: 13,102,474	T277S	probably benign	Het
Olfr357	T	C	2: 36,996,995	F62L	probably benign	Het
Olfr788	A	T	10: 129,472,721	I10F	possibly damaging	Het
Per2	A	T	1: 91,429,382		probably null	Het
Pgbd1	T	C	13: 21,423,476	I183V	probably benign	Het
Pik3c2g	T	C	6: 139,730,469	V113A	probably benign	Het
Pipox	A	G	11: 77,882,648	L259P	probably damaging	Het
Pkd1l3	C	T	8: 109,638,387	Q1124*	probably null	Het
Plcd3	A	G	11: 103,074,931	S492P	possibly damaging	Het
Rcor2	T	G	19: 7,271,046	M142R	probably benign	Het
Rwdd3	T	C	3: 121,156,452	E115G	probably damaging	Het
Slc13a3	T	C	2: 165,408,898	Y475C	probably damaging	Het
Slc14a2	A	T	18: 78,159,082	I611N	possibly damaging	Het
Slc25a24	G	T	3: 109,136,301	M91I	probably damaging	Het
Spg11	T	C	2: 122,092,305	S888G	probably benign	Het
Spta1	A	T	1: 174,187,148		probably null	Het
Tanc1	T	C	2: 59,807,642	S889P	probably damaging	Het
Tbc1d10b	T	C	7: 127,198,878	N697S	probably damaging	Het
Tcof1	A	T	18: 60,814,780		probably null	Het
Tg	T	A	15: 66,671,311	Y25N	probably damaging	Het
Thbs1	T	C	2: 118,119,117	C563R	probably damaging	Het
Tlr11	A	G	14: 50,363,055	S833G	possibly damaging	Het
Uggt2	T	A	14: 119,057,564	H550L	probably benign	Het
Utp20	A	G	10: 88,755,186		probably null	Het
Wbp1l	T	A	19: 46,654,319	L253Q	probably damaging	Het
Zfp433	T	A	10: 81,720,244	S161R	possibly damaging	Het
Zfp865	A	G	7: 5,029,783	T256A	probably damaging	Het
Zpr1	A	G	9: 46,274,711	D160G	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
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
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'- TATGCTGAGGAGCCCTGCTATC -3'
(R):5'- TGTCCGCCTTGGCTGTATAG -3'

Sequencing Primer
(F):5'- AGGAGCCCTGCTATCTCTGG -3'
(R):5'- CTTCGGGAGCCATGTAGAAGTC -3'

Posted On

2018-05-21