Mutagenetix > Incidental Mutation

Incidental Mutation 'R0551:Stk36'

45136

Institutional Source

Beutler Lab

Gene Symbol

Stk36

Ensembl Gene

ENSMUSG00000033276

Gene Name

serine/threonine kinase 36

Synonyms

1700112N14Rik, Fused

MMRRC Submission

038743-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0551 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74601445-74636894 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 74616621 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 428 (E428K)

Ref Sequence

ENSEMBL: ENSMUSP00000084433 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087183] [ENSMUST00000087186] [ENSMUST00000148456]

AlphaFold

Q69ZM6

Predicted Effect

probably benign
Transcript: ENSMUST00000087183
AA Change: E428K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000084430
Gene: ENSMUSG00000033276
AA Change: E428K

Domain	Start	End	E-Value	Type
S_TKc	4	254	5.24e-100	SMART
low complexity region	405	419	N/A	INTRINSIC
low complexity region	472	485	N/A	INTRINSIC
low complexity region	705	718	N/A	INTRINSIC
low complexity region	826	836	N/A	INTRINSIC
low complexity region	852	860	N/A	INTRINSIC
low complexity region	900	914	N/A	INTRINSIC
low complexity region	956	969	N/A	INTRINSIC
low complexity region	994	1009	N/A	INTRINSIC
low complexity region	1014	1030	N/A	INTRINSIC
Pfam:HEAT_2	1112	1218	7.8e-11	PFAM
Pfam:HEAT_2	1158	1259	3e-11	PFAM
Pfam:HEAT_EZ	1207	1261	4.3e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000087186
AA Change: E428K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000084433
Gene: ENSMUSG00000033276
AA Change: E428K

Domain	Start	End	E-Value	Type
S_TKc	4	254	5.24e-100	SMART
low complexity region	405	419	N/A	INTRINSIC
low complexity region	577	590	N/A	INTRINSIC
low complexity region	698	708	N/A	INTRINSIC
low complexity region	724	732	N/A	INTRINSIC
low complexity region	772	786	N/A	INTRINSIC
low complexity region	828	841	N/A	INTRINSIC
low complexity region	866	881	N/A	INTRINSIC
low complexity region	886	902	N/A	INTRINSIC
Pfam:HEAT_2	984	1090	2.9e-10	PFAM
Pfam:HEAT_2	1026	1131	9.6e-11	PFAM
Pfam:HEAT_EZ	1039	1092	2.2e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145673

Predicted Effect

probably benign
Transcript: ENSMUST00000148456
AA Change: E428K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000120020
Gene: ENSMUSG00000033276
AA Change: E428K

Domain	Start	End	E-Value	Type
S_TKc	4	254	5.24e-100	SMART
low complexity region	405	419	N/A	INTRINSIC
low complexity region	472	485	N/A	INTRINSIC
low complexity region	705	718	N/A	INTRINSIC
low complexity region	826	836	N/A	INTRINSIC
low complexity region	852	860	N/A	INTRINSIC
low complexity region	898	912	N/A	INTRINSIC
low complexity region	954	967	N/A	INTRINSIC
low complexity region	992	1007	N/A	INTRINSIC
low complexity region	1012	1028	N/A	INTRINSIC

Meta Mutation Damage Score

0.0893

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 95.1%

Validation Efficiency

99% (77/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serine/threonine kinase family of enzymes. This family member is similar to a Drosophila protein that plays a key role in the Hedgehog signaling pathway. This human protein is a positive regulator of the GLI zinc-finger transcription factors. Knockout studies of the homologous mouse gene suggest that defects in this human gene may lead to congenital hydrocephalus, possibly due to a functional defect in motile cilia. Because Hedgehog signaling is frequently activated in certain kinds of gastrointestinal cancers, it has been suggested that this gene is a target for the treatment of these cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]
PHENOTYPE: Nullizygous mutations cause postnatal growth defects and lethality. Homozygotes for a null allele show hydrocephaly, cranial defects, otitis media and sterility. Homozygotes for another null allele show additional defects in lung and renal development, thymus and spleen atrophy, rhinitis and ataxia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,662,641	T456S	probably benign	Het
5830473C10Rik	C	T	5: 90,572,719	P250S	probably damaging	Het
Acmsd	A	T	1: 127,766,333	K333N	probably benign	Het
Adcy2	T	A	13: 68,796,539	K241N	probably damaging	Het
Aebp1	A	G	11: 5,867,955	I77V	probably benign	Het
Ankrd35	A	G	3: 96,683,960	T521A	probably benign	Het
Arap2	C	T	5: 62,641,323		probably null	Het
Arfgap3	A	T	15: 83,343,137	C25S	probably damaging	Het
Arhgap20	T	A	9: 51,825,825		probably benign	Het
Arhgap39	C	T	15: 76,734,886	D833N	probably damaging	Het
Auts2	T	C	5: 131,440,469	E446G	possibly damaging	Het
Brwd1	C	T	16: 96,035,974	R886H	probably damaging	Het
Carm1	G	A	9: 21,580,491		probably null	Het
Cdc5l	G	A	17: 45,415,684	R321W	probably damaging	Het
Cfap54	A	T	10: 93,025,122	M841K	probably benign	Het
Clca4b	T	A	3: 144,928,626	T69S	probably damaging	Het
Cpox	A	G	16: 58,675,390	I357V	probably benign	Het
Diaph3	C	A	14: 86,910,100	V711L	probably benign	Het
Fabp3-ps1	T	C	10: 86,732,040		probably benign	Het
Fam120b	A	T	17: 15,431,643		probably benign	Het
Fcho1	A	G	8: 71,712,174	S488P	probably benign	Het
Flcn	A	G	11: 59,795,748		probably null	Het
Flt3l	A	G	7: 45,132,266	W234R	probably damaging	Het
Fzd7	G	T	1: 59,483,284	V109L	probably damaging	Het
G3bp1	A	G	11: 55,489,143	N101S	probably benign	Het
Gadd45g	A	G	13: 51,847,927	E143G	probably damaging	Het
Ganab	T	G	19: 8,907,280	I149S	probably benign	Het
Garnl3	A	G	2: 33,016,738	S413P	probably damaging	Het
Glis1	C	T	4: 107,568,119		probably null	Het
Gm11563	A	G	11: 99,658,713	S72P	unknown	Het
Gpd1	T	G	15: 99,720,629	I188S	possibly damaging	Het
Gria2	A	G	3: 80,732,026		probably benign	Het
H2afy2	A	G	10: 61,741,166	S308P	probably damaging	Het
Hpcal4	G	T	4: 123,189,055	A65S	possibly damaging	Het
Igsf10	G	A	3: 59,328,668	T1364I	probably benign	Het
Kdm4a	T	C	4: 118,138,231	*1065W	probably null	Het
Klkb1	A	G	8: 45,277,966		probably null	Het
Lipo3	T	C	19: 33,580,551	D147G	probably damaging	Het
Lrp1	A	G	10: 127,571,958	S1821P	probably benign	Het
Manba	T	C	3: 135,517,973	I207T	probably damaging	Het
Mark3	T	A	12: 111,633,634	S428T	probably benign	Het
Mfsd4a	G	A	1: 132,041,919	T348I	probably damaging	Het
Mfsd7a	A	G	5: 108,444,465		probably benign	Het
Mybbp1a	A	G	11: 72,448,376	M880V	probably benign	Het
N4bp2	T	A	5: 65,820,341		probably null	Het
Nrd1	T	G	4: 109,047,708	I712S	probably damaging	Het
Nup210	G	A	6: 91,021,484	R774C	possibly damaging	Het
Obscn	G	A	11: 59,107,862	R1395*	probably null	Het
Olfr1454	T	A	19: 13,064,294	D294E	probably benign	Het
Pcdh7	T	C	5: 57,721,994	Y964H	probably damaging	Het
Plin4	T	C	17: 56,106,756	T290A	probably benign	Het
Ppara	T	C	15: 85,787,105		probably benign	Het
Psg21	T	G	7: 18,652,640		probably null	Het
Ptar1	C	A	19: 23,720,340	N405K	probably benign	Het
Ralgps2	A	G	1: 156,832,663		probably null	Het
Rnf6	T	A	5: 146,211,395	N271I	possibly damaging	Het
Sis	T	C	3: 72,925,407	D1019G	possibly damaging	Het
Slc37a3	A	G	6: 39,352,754		probably benign	Het
Slc6a12	G	A	6: 121,356,918	V238I	probably damaging	Het
Sntg1	C	A	1: 8,554,736	V279L	possibly damaging	Het
Sorbs1	T	A	19: 40,311,816	E567D	probably damaging	Het
Sp110	C	A	1: 85,589,100		probably benign	Het
Ssu2	A	G	6: 112,380,554	V175A	possibly damaging	Het
Teddm1b	A	T	1: 153,875,344	I300F	possibly damaging	Het
Thy1	T	C	9: 44,047,348	V129A	probably damaging	Het
Tiam2	T	A	17: 3,428,954	M654K	probably damaging	Het
Tmem69	T	C	4: 116,553,273	S167G	probably benign	Het
Tmem8	C	A	17: 26,120,602	Q605K	probably damaging	Het
Tmem81	C	G	1: 132,507,829	I124M	probably damaging	Het
Tspan10	A	G	11: 120,444,418	D118G	probably damaging	Het
Tspo2	A	G	17: 48,448,813		probably benign	Het
Ttn	G	A	2: 76,908,328	Q4002*	probably null	Het
Tyro3	G	A	2: 119,816,904	R834Q	probably damaging	Het
Ugt2b1	T	C	5: 86,926,084	K139E	probably benign	Het
Vmn1r9	A	T	6: 57,071,539	I200F	probably benign	Het

Other mutations in Stk36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00325:Stk36	APN	1	74634702	missense	possibly damaging	0.82
IGL00485:Stk36	APN	1	74634085	missense	probably benign
IGL00792:Stk36	APN	1	74611117	missense	probably benign	0.01
IGL00941:Stk36	APN	1	74623934	missense	possibly damaging	0.85
IGL01324:Stk36	APN	1	74625610	missense	possibly damaging	0.66
IGL01538:Stk36	APN	1	74633638	missense	probably benign	0.03
IGL02143:Stk36	APN	1	74616569	splice site	probably benign
IGL02223:Stk36	APN	1	74623337	missense	possibly damaging	0.84
IGL02371:Stk36	APN	1	74622255	missense	probably benign	0.13
IGL02618:Stk36	APN	1	74631675	splice site	probably benign
IGL02655:Stk36	APN	1	74634535	missense	probably damaging	1.00
IGL02993:Stk36	APN	1	74622287	missense	probably benign	0.05
IGL03125:Stk36	APN	1	74623313	missense	probably damaging	1.00
IGL03242:Stk36	APN	1	74623352	missense	possibly damaging	0.70
R0373:Stk36	UTSW	1	74633620	missense	probably damaging	0.99
R0377:Stk36	UTSW	1	74612730	missense	probably benign
R0464:Stk36	UTSW	1	74611172	missense	probably damaging	0.98
R0520:Stk36	UTSW	1	74602206	unclassified	probably benign
R1118:Stk36	UTSW	1	74632766	missense	probably benign	0.29
R1119:Stk36	UTSW	1	74632766	missense	probably benign	0.29
R1471:Stk36	UTSW	1	74611155	missense	probably benign	0.14
R1915:Stk36	UTSW	1	74634187	missense	probably benign	0.08
R2159:Stk36	UTSW	1	74634737	missense	probably benign	0.00
R2290:Stk36	UTSW	1	74626144	splice site	probably benign
R2897:Stk36	UTSW	1	74632825	missense	probably null
R2898:Stk36	UTSW	1	74632825	missense	probably null
R4032:Stk36	UTSW	1	74626048	missense	probably benign
R4353:Stk36	UTSW	1	74632807	missense	possibly damaging	0.53
R4683:Stk36	UTSW	1	74634185	missense	probably benign	0.22
R4753:Stk36	UTSW	1	74626096	missense	probably benign	0.05
R4891:Stk36	UTSW	1	74603256	missense	probably damaging	1.00
R5068:Stk36	UTSW	1	74622345	missense	probably benign	0.00
R5115:Stk36	UTSW	1	74635827	missense	probably damaging	1.00
R5266:Stk36	UTSW	1	74611158	missense	probably benign
R5412:Stk36	UTSW	1	74605456	splice site	probably null
R5533:Stk36	UTSW	1	74626591	missense	possibly damaging	0.65
R5782:Stk36	UTSW	1	74605425	missense	possibly damaging	0.81
R6149:Stk36	UTSW	1	74634229	missense	probably benign	0.00
R6208:Stk36	UTSW	1	74611432	missense	probably benign	0.03
R6497:Stk36	UTSW	1	74603232	missense	probably damaging	1.00
R6805:Stk36	UTSW	1	74622239	missense	probably benign
R7064:Stk36	UTSW	1	74610820	missense	probably damaging	1.00
R7102:Stk36	UTSW	1	74622223	missense	probably benign	0.10
R7393:Stk36	UTSW	1	74611193	nonsense	probably null
R7408:Stk36	UTSW	1	74633566	missense	probably damaging	1.00
R7471:Stk36	UTSW	1	74634320	missense	unknown
R7816:Stk36	UTSW	1	74611169	nonsense	probably null
R8017:Stk36	UTSW	1	74612766	missense	probably benign
R8019:Stk36	UTSW	1	74612766	missense	probably benign
R8104:Stk36	UTSW	1	74626597	missense	probably benign	0.26
R8381:Stk36	UTSW	1	74633174	missense	probably benign
R8526:Stk36	UTSW	1	74634544	missense	probably benign	0.00
R8681:Stk36	UTSW	1	74622233	missense	probably damaging	0.99
R9320:Stk36	UTSW	1	74616634	missense	possibly damaging	0.64
R9436:Stk36	UTSW	1	74611113	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TAGGAGAAGTGTCCCCACCAGAAC -3'
(R):5'- CTGGAAAAGAACAGCCCCTCTGTC -3'

Sequencing Primer
(F):5'- GACTTCCTACTTCCTAGTAGAGACAG -3'
(R):5'- GTCTCCTTACGGCGTGATG -3'

Posted On

2013-06-11