Mutagenetix > Incidental Mutations

Incidental Mutation 'R7393:Stk36'

573565

Institutional Source

Beutler Lab

Gene Symbol

Stk36

Ensembl Gene

ENSMUSG00000033276

Gene Name

serine/threonine kinase 36

Synonyms

1700112N14Rik, Fused

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7393 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74601445-74636894 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 74611193 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 295 (K295*)

Ref Sequence

ENSEMBL: ENSMUSP00000120020 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087183] [ENSMUST00000087186] [ENSMUST00000148456] [ENSMUST00000189830]

Predicted Effect

probably null
Transcript: ENSMUST00000087183
AA Change: K295*

SMART Domains

Protein: ENSMUSP00000084430
Gene: ENSMUSG00000033276
AA Change: K295*

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 null
Transcript: ENSMUST00000087186
AA Change: K295*

SMART Domains

Protein: ENSMUSP00000084433
Gene: ENSMUSG00000033276
AA Change: K295*

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 null
Transcript: ENSMUST00000148456
AA Change: K295*

SMART Domains

Protein: ENSMUSP00000120020
Gene: ENSMUSG00000033276
AA Change: K295*

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

Predicted Effect

probably benign
Transcript: ENSMUST00000189830

SMART Domains

Protein: ENSMUSP00000140912
Gene: ENSMUSG00000033276

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	56	8.1e-8	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010107E04Rik	A	G	12: 111,963,277	V26A	probably benign	Het
Abcb11	C	T	2: 69,299,867	D282N	probably damaging	Het
Abi2	T	C	1: 60,434,382	M86T	possibly damaging	Het
Adam26a	T	C	8: 43,569,688	N255S	probably benign	Het
Adam4	G	A	12: 81,419,660	S729L	probably benign	Het
Adcy1	G	T	11: 7,137,381	W418C	probably damaging	Het
Add2	T	A	6: 86,098,647	Y259*	probably null	Het
Agl	A	T	3: 116,791,156	C172S	probably benign	Het
Ankfy1	A	G	11: 72,738,308	T319A	possibly damaging	Het
Armc8	A	T	9: 99,483,999	C621S	possibly damaging	Het
Bbc3	A	G	7: 16,313,789	D146G	probably benign	Het
Btnl10	T	C	11: 58,923,706	L404P	probably damaging	Het
Cbl	A	G	9: 44,154,188		probably null	Het
Ccdc170	T	A	10: 4,514,314		probably null	Het
Ccdc91	T	A	6: 147,534,029	V37E	possibly damaging	Het
Ces1e	G	T	8: 93,210,417	T343K	probably benign	Het
Chfr	T	A	5: 110,152,358	F323I	probably damaging	Het
Clcnkb	T	A	4: 141,409,445	M370L	probably benign	Het
Col11a1	A	G	3: 114,097,106	D364G	unknown	Het
Ctbp2	A	G	7: 132,988,292	I381T	probably benign	Het
Cyp4a29	A	C	4: 115,242,196	Y38S	probably damaging	Het
Ddx1	T	C	12: 13,230,353	D382G	probably benign	Het
Dhx57	T	A	17: 80,255,571	N876Y	probably damaging	Het
Dsel	C	T	1: 111,861,573	G411S	probably damaging	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Fam234a	T	C	17: 26,216,624	D262G	probably benign	Het
Fnbp4	C	A	2: 90,779,316	Q1035K	probably damaging	Het
Gbp11	T	A	5: 105,327,577	N302Y	possibly damaging	Het
Gm11554	T	A	11: 99,803,872	T172S	unknown	Het
Hamp2	A	T	7: 30,922,605	M53K	possibly damaging	Het
Kcnj1	A	G	9: 32,397,018	D246G	probably damaging	Het
Kctd20	T	C	17: 28,963,338	F209L	probably damaging	Het
Klra2	T	C	6: 131,230,202	Y148C	probably damaging	Het
Krtap15	T	C	16: 88,829,097		probably null	Het
Mrps23	T	C	11: 88,204,458	L6P	probably damaging	Het
Ms4a6d	G	A	19: 11,590,073	Q155*	probably null	Het
Myo7a	G	A	7: 98,063,699	R1690C	possibly damaging	Het
Nbas	T	C	12: 13,393,492	S1183P	probably damaging	Het
Ndufaf4	T	A	4: 24,903,177	M122K	probably benign	Het
Nop2	C	A	6: 125,133,546	S45*	probably null	Het
Nop56	T	A	2: 130,274,638	L3Q	probably benign	Het
Nrp2	T	C	1: 62,745,424	I244T	probably damaging	Het
Olfr1426	T	A	19: 12,088,628	T55S	probably benign	Het
Olfr620	A	G	7: 103,611,991	S121P	possibly damaging	Het
Otof	T	C	5: 30,370,270	D1941G	probably benign	Het
Pcyox1l	T	C	18: 61,697,641	K387E	probably benign	Het
Plcg2	A	G	8: 117,579,825	Y306C	possibly damaging	Het
Ppp1r13b	G	A	12: 111,838,754	P333S	probably damaging	Het
Rcc2	A	G	4: 140,717,030	D344G	probably damaging	Het
Reln	A	T	5: 21,976,351	N1810K	probably damaging	Het
Rfesd	G	T	13: 76,003,030	A90E	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,917		probably benign	Het
Scg2	T	C	1: 79,435,231	K552E	probably damaging	Het
Sdccag8	A	G	1: 176,840,306	I190V	probably benign	Het
Sele	C	A	1: 164,053,923	T533K	probably benign	Het
Sh3bp4	T	A	1: 89,144,448	H339Q	possibly damaging	Het
Slc6a19	A	G	13: 73,692,974	S106P	probably benign	Het
Spidr	C	T	16: 16,146,831		probably benign	Het
Synj1	A	T	16: 90,951,999	D1056E	probably damaging	Het
Tnks1bp1	T	C	2: 85,062,866	S1046P	probably benign	Het
Ttc27	T	G	17: 74,770,264	F385V	possibly damaging	Het
Ttn	C	A	2: 76,944,345	G2164W	unknown	Het
Ubap1	T	A	4: 41,379,764	L326*	probably null	Het
Ubr4	A	G	4: 139,426,785	N812S	probably damaging	Het
Vmn1r160	A	G	7: 22,871,353	T44A	possibly damaging	Het
Vmn1r28	G	A	6: 58,265,589	S139N	possibly damaging	Het
Vmn2r116	A	G	17: 23,386,125	I137M	probably benign	Het
Vmn2r67	A	T	7: 85,155,878	W9R	probably null	Het
Zfp101	T	C	17: 33,386,700	N45D	possibly damaging	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	unclassified	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
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

Predicted Primers

PCR Primer
(F):5'- AATGGCCTCTTCCTACGGAG -3'
(R):5'- CGGAGACAAGAGAACTATTTGTGC -3'

Sequencing Primer
(F):5'- AGAGCCACTGATGTGTCCCTTG -3'
(R):5'- ATTTGTGCTCTTCCTATCTTTTTGC -3'

Posted On

2019-09-13