Mutagenetix > Incidental Mutation

Incidental Mutation 'R4466:Stk35'

330333

Institutional Source

Beutler Lab

Gene Symbol

Stk35

Ensembl Gene

ENSMUSG00000037885

Gene Name

serine/threonine kinase 35

Synonyms

CLP-36 interacting kinase, CLIK1, 1700054C12Rik

MMRRC Submission

041723-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4466 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129642437-129674207 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 129643436 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 140 (T140K)

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: T140K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126541
Gene: ENSMUSG00000037885
AA Change: T140K

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: T140K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132862
Gene: ENSMUSG00000037885
AA Change: T140K

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

0.0754

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

98% (55/56)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449A18Rik	A	T	3: 59,745,887 (GRCm39)		noncoding transcript	Het
Adgra1	T	A	7: 139,420,752 (GRCm39)		probably benign	Het
Akap13	T	A	7: 75,252,521 (GRCm39)		probably null	Het
Amn1	T	C	6: 149,068,343 (GRCm39)		probably null	Het
Ano5	T	A	7: 51,220,023 (GRCm39)	F374I	probably damaging	Het
Apol7c	T	C	15: 77,410,664 (GRCm39)	E94G	probably benign	Het
Arid4b	A	T	13: 14,307,095 (GRCm39)	S117C	probably damaging	Het
Atm	C	A	9: 53,359,469 (GRCm39)	E2778*	probably null	Het
Cped1	A	T	6: 22,123,651 (GRCm39)	Q468L	probably benign	Het
Crygb	A	G	1: 65,119,645 (GRCm39)	S112P	probably damaging	Het
Eeig2	T	A	3: 108,887,124 (GRCm39)	R291S	probably benign	Het
Eml4	C	T	17: 83,729,103 (GRCm39)	Q93*	probably null	Het
Eps15	G	A	4: 109,223,727 (GRCm39)		probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fhad1	A	T	4: 141,684,969 (GRCm39)	S457T	probably damaging	Het
Frmd4b	A	G	6: 97,300,614 (GRCm39)		probably null	Het
Gm5134	G	C	10: 75,844,409 (GRCm39)	K588N	probably benign	Het
Gpr21	A	G	2: 37,407,570 (GRCm39)	T39A	probably benign	Het
Irx1	C	A	13: 72,108,101 (GRCm39)	G194W	probably damaging	Het
Itgal	C	T	7: 126,927,684 (GRCm39)	T992I	possibly damaging	Het
Itpr3	T	C	17: 27,325,316 (GRCm39)	L1303P	probably damaging	Het
Kdm2a	A	T	19: 4,370,328 (GRCm39)	D1052E	probably damaging	Het
Klhl6	T	C	16: 19,776,018 (GRCm39)	D180G	probably damaging	Het
M6pr	A	G	6: 122,290,228 (GRCm39)	T64A	probably benign	Het
Mrpl47	G	A	3: 32,784,240 (GRCm39)	R177*	probably null	Het
Mtfr2	A	G	10: 20,224,159 (GRCm39)	Y31C	probably damaging	Het
Mup6	T	C	4: 60,004,000 (GRCm39)	I31T	probably damaging	Het
Oas2	A	G	5: 120,887,667 (GRCm39)	S58P	probably damaging	Het
Or1j11	A	T	2: 36,312,308 (GRCm39)	R299S	probably benign	Het
Or5b124	G	A	19: 13,610,801 (GRCm39)	E109K	probably damaging	Het
Or8b36	T	A	9: 37,937,479 (GRCm39)	C126S	probably damaging	Het
Polr1b	A	T	2: 128,965,802 (GRCm39)	I815L	probably benign	Het
Psma8	T	C	18: 14,854,231 (GRCm39)	I37T	possibly damaging	Het
Ryr3	T	C	2: 112,483,447 (GRCm39)	E4100G	possibly damaging	Het
Serpina3g	C	T	12: 104,204,182 (GRCm39)		probably benign	Het
Serpina3m	A	T	12: 104,357,874 (GRCm39)	Y266F	probably damaging	Het
Sez6l2	T	A	7: 126,559,023 (GRCm39)	D423E	probably damaging	Het
Sh3gl2	A	G	4: 85,299,688 (GRCm39)	E224G	possibly damaging	Het
Sh3pxd2a	A	G	19: 47,353,146 (GRCm39)	V105A	possibly damaging	Het
Slc24a2	A	T	4: 87,146,099 (GRCm39)		probably benign	Het
Smyd2	A	G	1: 189,614,349 (GRCm39)	M393T	probably benign	Het
Sox8	C	A	17: 25,787,879 (GRCm39)	G190V	probably benign	Het
Stag2	A	G	X: 41,322,749 (GRCm39)	S400G	probably benign	Het
Taf6	A	C	5: 138,179,463 (GRCm39)		probably benign	Het
Ten1	A	C	11: 116,095,823 (GRCm39)		probably benign	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Ttn	A	G	2: 76,544,044 (GRCm39)	F32981L	probably damaging	Het
Zik1	G	T	7: 10,224,893 (GRCm39)	T68K	probably benign	Het
Zzef1	T	A	11: 72,815,485 (GRCm39)	I2935N	probably damaging	Het

Other mutations in Stk35

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00850:Stk35	APN	2	129,643,912 (GRCm39)	missense	probably damaging	1.00
IGL02609:Stk35	APN	2	129,643,721 (GRCm39)	missense	probably damaging	1.00
fingernails	UTSW	2	129,652,855 (GRCm39)	missense	probably damaging	1.00
R2256_Stk35_331	UTSW	2	129,652,427 (GRCm39)	nonsense	probably null
skinned	UTSW	2	129,653,155 (GRCm39)	intron	probably benign
R0045:Stk35	UTSW	2	129,642,488 (GRCm39)	nonsense	probably null
R0306:Stk35	UTSW	2	129,643,683 (GRCm39)	nonsense	probably null
R0784:Stk35	UTSW	2	129,652,722 (GRCm39)	nonsense	probably null
R1536:Stk35	UTSW	2	129,653,155 (GRCm39)	intron	probably benign
R2256:Stk35	UTSW	2	129,652,427 (GRCm39)	nonsense	probably null
R2507:Stk35	UTSW	2	129,643,435 (GRCm39)	missense	probably damaging	0.97
R2508:Stk35	UTSW	2	129,643,435 (GRCm39)	missense	probably damaging	0.97
R3848:Stk35	UTSW	2	129,642,656 (GRCm39)	missense	probably benign	0.13
R3872:Stk35	UTSW	2	129,652,495 (GRCm39)	missense	possibly damaging	0.82
R5144:Stk35	UTSW	2	129,652,855 (GRCm39)	missense	probably damaging	1.00
R6267:Stk35	UTSW	2	129,652,808 (GRCm39)	nonsense	probably null
R6296:Stk35	UTSW	2	129,652,808 (GRCm39)	nonsense	probably null
R6480:Stk35	UTSW	2	129,652,607 (GRCm39)	missense	possibly damaging	0.95
R6807:Stk35	UTSW	2	129,643,573 (GRCm39)	missense	probably damaging	0.97
R7203:Stk35	UTSW	2	129,643,513 (GRCm39)	missense	probably benign
R7476:Stk35	UTSW	2	129,652,645 (GRCm39)	missense	probably damaging	1.00
R8505:Stk35	UTSW	2	129,643,649 (GRCm39)	missense	probably damaging	0.99
R8998:Stk35	UTSW	2	129,652,509 (GRCm39)	missense	probably damaging	1.00
R8999:Stk35	UTSW	2	129,652,509 (GRCm39)	missense	probably damaging	1.00
R9224:Stk35	UTSW	2	129,652,491 (GRCm39)	missense	probably damaging	1.00
R9760:Stk35	UTSW	2	129,642,605 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCGGACGCTTTAAGTTCCTC -3'
(R):5'- ATAAACCACGCCGTAGCTGC -3'

Sequencing Primer
(F):5'- GGACGCTTTAAGTTCCTCATCTAC -3'
(R):5'- TGCAGGAACATCCCCGC -3'

Posted On

2015-07-21