Mutagenetix > Incidental Mutation

Incidental Mutation 'R6805:Stk36'

533510

Institutional Source

Beutler Lab

Gene Symbol

Stk36

Ensembl Gene

ENSMUSG00000033276

Gene Name

serine/threonine kinase 36

Synonyms

1700112N14Rik, Fused

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6805 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74601445-74636894 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74622239 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 475 (V475A)

Ref Sequence

ENSEMBL: ENSMUSP00000120020 (fasta)

Gene Model

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

AlphaFold

Q69ZM6

Predicted Effect

probably benign
Transcript: ENSMUST00000087183
AA Change: V475A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000084430
Gene: ENSMUSG00000033276
AA Change: V475A

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

SMART Domains

Protein: ENSMUSP00000084433
Gene: ENSMUSG00000033276

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

probably benign
Transcript: ENSMUST00000148456
AA Change: V475A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000120020
Gene: ENSMUSG00000033276
AA Change: V475A

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 97.1%

Validation Efficiency

98% (62/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,244,306	V2591A	probably benign	Het
4930407I10Rik	A	G	15: 82,062,543	T214A	possibly damaging	Het
A930009A15Rik	G	T	10: 115,579,905		probably benign	Het
Aadac	A	C	3: 60,037,336	D143A	probably benign	Het
Acot10	T	G	15: 20,665,366	T430P	probably benign	Het
Adgrb3	T	C	1: 25,826,172	T197A	possibly damaging	Het
B230118H07Rik	T	C	2: 101,566,459	K192E	probably benign	Het
Bbs1	A	G	19: 4,900,615	I200T	probably damaging	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
Cadps	G	A	14: 12,467,103	A943V	probably damaging	Het
Cc2d2a	A	G	5: 43,681,331	E48G	probably damaging	Het
Clca1	A	T	3: 145,018,667	C211S	probably damaging	Het
Col18a1	A	G	10: 77,054,239	L1429P	probably damaging	Het
Cul2	T	G	18: 3,421,263	Y196D	probably damaging	Het
D630023F18Rik	T	C	1: 65,117,206	S43G	probably benign	Het
Ddx39	G	A	8: 83,723,137	R427Q	probably damaging	Het
Def6	A	G	17: 28,223,717	T285A	probably damaging	Het
Defb21	T	A	2: 152,574,869	D88E	probably benign	Het
Defb6	A	G	8: 19,228,101	K63R	probably benign	Het
Dnph1	T	C	17: 46,498,744	S112P	probably damaging	Het
Dock10	T	A	1: 80,586,690	I467L	probably benign	Het
Dspp	C	A	5: 104,175,850	H286Q	probably benign	Het
Eya1	T	A	1: 14,183,277	T459S	probably benign	Het
Faf1	T	C	4: 109,861,852	L385P	probably damaging	Het
Fbxw21	C	A	9: 109,157,565	R82L	probably damaging	Het
Fryl	A	G	5: 73,065,094	V2048A	probably benign	Het
Galnt5	A	T	2: 58,035,299	D864V	possibly damaging	Het
Gata6	T	G	18: 11,054,460	S130A	possibly damaging	Het
Gbf1	G	T	19: 46,262,507	R434L	probably damaging	Het
Gga3	A	G	11: 115,585,762	F709L	probably damaging	Het
Hcar1	A	G	5: 123,879,130	V166A	probably benign	Het
Hexa	T	A	9: 59,563,937	N491K	possibly damaging	Het
Hpse2	A	T	19: 43,294,321	C164*	probably null	Het
Ifi202b	T	C	1: 173,974,989	Y93C	probably damaging	Het
Iscu	T	A	5: 113,775,243	I79N	probably damaging	Het
Jmjd7	T	A	2: 120,031,323	Y182*	probably null	Het
Jup	A	T	11: 100,383,458	D135E	probably benign	Het
Kit	T	A	5: 75,652,808	I881N	probably damaging	Het
Llgl1	T	A	11: 60,702,865	S55T	probably benign	Het
Lonp2	G	A	8: 86,709,096	M653I	probably benign	Het
Lrp8	T	C	4: 107,854,320	Y307H	probably damaging	Het
Med13	A	T	11: 86,278,796	M1914K	possibly damaging	Het
Ms4a1	A	G	19: 11,253,173		probably null	Het
Naip1	A	G	13: 100,427,341	S439P	probably benign	Het
Nrg1	T	C	8: 31,821,264	R476G	probably damaging	Het
Olfr1129	T	A	2: 87,574,918		probably null	Het
Olfr835	G	T	9: 19,035,301	M59I	probably damaging	Het
Pds5b	T	A	5: 150,805,561		probably null	Het
Phf12	G	A	11: 78,027,373	G804R	probably damaging	Het
Pou6f2	T	C	13: 18,239,489	T234A		Het
Prune2	A	T	19: 17,120,590	I1153L	probably benign	Het
Ptprc	C	T	1: 138,067,885		probably null	Het
Qpctl	T	C	7: 19,149,154	Q11R	probably benign	Het
Rfx4	A	G	10: 84,840,228	K103E	possibly damaging	Het
Srcin1	T	A	11: 97,551,980		probably null	Het
St6galnac1	G	T	11: 116,768,944	A181D	probably damaging	Het
Tbc1d21	T	C	9: 58,361,288	T263A	possibly damaging	Het
Tex24	A	T	8: 27,345,000	K185N	probably damaging	Het
Tnxb	T	A	17: 34,698,153	V2174E	possibly damaging	Het
Tollip	A	G	7: 141,890,845	S57P	probably benign	Het
Zbtb49	A	G	5: 38,213,241		probably benign	Het
Zfp758	A	G	17: 22,361,669	T30A	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
R0551:Stk36	UTSW	1	74616621	missense	probably benign	0.00
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
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'- TCCATAGTTTTCTCTGGTGCAG -3'
(R):5'- ACCACCCCTTGTCTTCAGAG -3'

Sequencing Primer
(F):5'- CTGGTGCAGTTCCCCTGTG -3'
(R):5'- GGCTGCTGGGCTATATACC -3'

Posted On

2018-09-12