Mutagenetix > Incidental Mutation

Incidental Mutation 'R1915:Stk36'

214738

Institutional Source

Beutler Lab

Gene Symbol

Stk36

Ensembl Gene

ENSMUSG00000033276

Gene Name

serine/threonine kinase 36

Synonyms

1700112N14Rik, Fused

MMRRC Submission

039933-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1915 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74640604-74676053 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 74673346 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 1080 (S1080T)

Ref Sequence

ENSEMBL: ENSMUSP00000084430 (fasta)

Gene Model

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

AlphaFold

Q69ZM6

Predicted Effect

probably benign
Transcript: ENSMUST00000087183
AA Change: S1080T

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000084430
Gene: ENSMUSG00000033276
AA Change: S1080T

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

unknown
Transcript: ENSMUST00000087186
AA Change: S952T

SMART Domains

Protein: ENSMUSP00000084433
Gene: ENSMUSG00000033276
AA Change: S952T

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: ENSMUST00000123154

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145673

Predicted Effect

probably benign
Transcript: ENSMUST00000148456

SMART Domains

Protein: ENSMUSP00000120020
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	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

noncoding transcript
Transcript: ENSMUST00000155473

Meta Mutation Damage Score

0.0912

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.4%

Validation Efficiency

100% (85/85)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,103,036 (GRCm39)	R852G	probably benign	Het
Adam2	C	A	14: 66,275,006 (GRCm39)	V576F	possibly damaging	Het
Afmid	T	C	11: 117,726,625 (GRCm39)	F250L	possibly damaging	Het
Apc2	A	T	10: 80,151,701 (GRCm39)	I2252L	probably benign	Het
Bcar1	A	G	8: 112,442,030 (GRCm39)	V270A	probably damaging	Het
Btnl7-ps	T	A	17: 34,760,619 (GRCm39)		noncoding transcript	Het
Cdkn2aip	T	C	8: 48,164,961 (GRCm39)	T251A	probably benign	Het
Cdx1	A	G	18: 61,152,970 (GRCm39)	V212A	probably benign	Het
Cep95	C	T	11: 106,705,464 (GRCm39)	T483I	probably damaging	Het
Cfap100	T	C	6: 90,389,329 (GRCm39)		probably benign	Het
Cfap54	A	G	10: 92,720,564 (GRCm39)	V2630A	unknown	Het
Chia1	T	A	3: 106,035,875 (GRCm39)	N238K	probably benign	Het
Cldn23	T	A	8: 36,293,099 (GRCm39)	I130F	possibly damaging	Het
Cntrl	T	C	2: 35,052,873 (GRCm39)	M1126T	probably benign	Het
Col28a1	A	G	6: 8,176,333 (GRCm39)	F8S	probably benign	Het
Cpeb3	C	T	19: 37,031,665 (GRCm39)	R579Q	probably damaging	Het
Creld2	G	A	15: 88,704,834 (GRCm39)	W103*	probably null	Het
Dbh	A	G	2: 27,058,234 (GRCm39)	D134G	probably damaging	Het
Dcbld1	G	T	10: 52,193,131 (GRCm39)	C292F	probably damaging	Het
Dlgap5	T	C	14: 47,645,230 (GRCm39)	K304E	probably benign	Het
Dnajc2	A	G	5: 21,986,317 (GRCm39)		probably null	Het
Eps8l2	G	A	7: 140,941,765 (GRCm39)	V650M	probably damaging	Het
Erlin1	T	C	19: 44,047,504 (GRCm39)	Y139C	probably damaging	Het
Exoc3	A	G	13: 74,321,413 (GRCm39)		probably null	Het
F5	C	A	1: 164,010,486 (GRCm39)	R406S	probably damaging	Het
Fahd1	A	T	17: 25,068,622 (GRCm39)	W152R	possibly damaging	Het
Farp2	T	A	1: 93,456,424 (GRCm39)	S36T	probably benign	Het
Foxs1	A	G	2: 152,774,760 (GRCm39)	C98R	probably damaging	Het
Gal3st4	T	A	5: 138,263,672 (GRCm39)	K442N	probably benign	Het
Gm10644	G	A	8: 84,660,479 (GRCm39)		probably benign	Het
Gm8674	A	T	13: 50,054,889 (GRCm39)		noncoding transcript	Het
Gpr88	G	T	3: 116,046,073 (GRCm39)	S79R	possibly damaging	Het
Heatr9	T	G	11: 83,409,035 (GRCm39)	I171L	possibly damaging	Het
Hectd4	A	G	5: 121,460,357 (GRCm39)	T2209A	probably benign	Het
Hsh2d	A	G	8: 72,947,365 (GRCm39)	T21A	probably damaging	Het
Irf4	A	T	13: 30,945,445 (GRCm39)	Q397L	probably benign	Het
Itgae	T	A	11: 73,009,469 (GRCm39)		probably benign	Het
Jrkl	A	T	9: 13,245,609 (GRCm39)	D17E	possibly damaging	Het
Kcna4	T	C	2: 107,127,123 (GRCm39)	V619A	probably benign	Het
Kcnh6	T	A	11: 105,908,270 (GRCm39)	Y295*	probably null	Het
Kif1b	G	A	4: 149,351,673 (GRCm39)	T263I	probably damaging	Het
Large2	G	T	2: 92,196,170 (GRCm39)		probably benign	Het
Lcp1	T	A	14: 75,436,737 (GRCm39)	Y28N	possibly damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mccc2	T	C	13: 100,085,038 (GRCm39)		probably null	Het
Mlh3	T	C	12: 85,308,442 (GRCm39)	Y1115C	probably benign	Het
Mlst8	C	T	17: 24,696,264 (GRCm39)	W155*	probably null	Het
Myh10	T	C	11: 68,681,034 (GRCm39)	L1025P	probably damaging	Het
Myof	T	A	19: 37,966,141 (GRCm39)	N393I	probably damaging	Het
Nalcn	C	T	14: 123,540,181 (GRCm39)	V1140I	probably benign	Het
Ncald	C	T	15: 37,397,324 (GRCm39)	A119T	probably benign	Het
Nipbl	T	C	15: 8,373,114 (GRCm39)	E1044G	possibly damaging	Het
Nup58	T	C	14: 60,475,980 (GRCm39)	K279R	probably benign	Het
Oas1a	A	T	5: 121,043,876 (GRCm39)	N85K	possibly damaging	Het
Or11g1	C	T	14: 50,651,798 (GRCm39)	P266S	probably damaging	Het
Or8b12i	T	C	9: 20,082,324 (GRCm39)	Y181C	probably benign	Het
Or8k30	A	G	2: 86,339,343 (GRCm39)	D180G	probably damaging	Het
Pou2f2	C	T	7: 24,799,581 (GRCm39)	A92T	possibly damaging	Het
Ppp1r16a	T	C	15: 76,577,268 (GRCm39)	L212P	probably damaging	Het
Pram1	A	T	17: 33,860,131 (GRCm39)	I233F	probably benign	Het
Ptbp3	A	T	4: 59,517,635 (GRCm39)	L84Q	probably damaging	Het
Ptgr2	A	T	12: 84,349,096 (GRCm39)	Q145L	probably benign	Het
Ptpn23	A	T	9: 110,215,575 (GRCm39)	D1396E	probably damaging	Het
Pudp	T	C	18: 50,701,278 (GRCm39)	N152D	probably benign	Het
Rbm20	T	A	19: 53,852,518 (GRCm39)	L1166Q	probably damaging	Het
Rictor	T	G	15: 6,789,053 (GRCm39)	I223R	probably damaging	Het
Ripor1	A	T	8: 106,343,518 (GRCm39)	E270D	probably damaging	Het
Rorc	T	C	3: 94,298,480 (GRCm39)	C322R	probably damaging	Het
Rpgrip1l	T	C	8: 91,959,552 (GRCm39)	D1116G	probably benign	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Sptan1	C	G	2: 29,901,048 (GRCm39)	Q1425E	probably benign	Het
Srd5a3	G	A	5: 76,295,552 (GRCm39)	V81I	probably benign	Het
Sugp2	T	A	8: 70,706,310 (GRCm39)	I790K	probably damaging	Het
Syde2	T	G	3: 145,720,071 (GRCm39)	Y764*	probably null	Het
Tmem130	A	G	5: 144,674,666 (GRCm39)	F353S	probably damaging	Het
Tmem131	T	A	1: 36,835,347 (GRCm39)	K1591N	probably damaging	Het
Urb2	C	A	8: 124,756,537 (GRCm39)	T748K	possibly damaging	Het
Uri1	A	T	7: 37,661,103 (GRCm39)	I480K	probably damaging	Het
Zcchc3	A	C	2: 152,255,601 (GRCm39)	V366G	probably benign	Het
Zfp292	G	A	4: 34,805,100 (GRCm39)	S2648F	possibly damaging	Het
Zfp54	T	C	17: 21,654,414 (GRCm39)	Y303H	probably benign	Het
Zfp729b	A	G	13: 67,741,339 (GRCm39)	F319L	probably damaging	Het
Zfp934	G	A	13: 62,665,769 (GRCm39)	H291Y	probably damaging	Het

Other mutations in Stk36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00325:Stk36	APN	1	74,673,861 (GRCm39)	missense	possibly damaging	0.82
IGL00485:Stk36	APN	1	74,673,244 (GRCm39)	missense	probably benign
IGL00792:Stk36	APN	1	74,650,276 (GRCm39)	missense	probably benign	0.01
IGL00941:Stk36	APN	1	74,663,093 (GRCm39)	missense	possibly damaging	0.85
IGL01324:Stk36	APN	1	74,664,769 (GRCm39)	missense	possibly damaging	0.66
IGL01538:Stk36	APN	1	74,672,797 (GRCm39)	missense	probably benign	0.03
IGL02143:Stk36	APN	1	74,655,728 (GRCm39)	splice site	probably benign
IGL02223:Stk36	APN	1	74,662,496 (GRCm39)	missense	possibly damaging	0.84
IGL02371:Stk36	APN	1	74,661,414 (GRCm39)	missense	probably benign	0.13
IGL02618:Stk36	APN	1	74,670,834 (GRCm39)	splice site	probably benign
IGL02655:Stk36	APN	1	74,673,694 (GRCm39)	missense	probably damaging	1.00
IGL02993:Stk36	APN	1	74,661,446 (GRCm39)	missense	probably benign	0.05
IGL03125:Stk36	APN	1	74,662,472 (GRCm39)	missense	probably damaging	1.00
IGL03242:Stk36	APN	1	74,662,511 (GRCm39)	missense	possibly damaging	0.70
R0373:Stk36	UTSW	1	74,672,779 (GRCm39)	missense	probably damaging	0.99
R0377:Stk36	UTSW	1	74,651,889 (GRCm39)	missense	probably benign
R0464:Stk36	UTSW	1	74,650,331 (GRCm39)	missense	probably damaging	0.98
R0520:Stk36	UTSW	1	74,641,365 (GRCm39)	unclassified	probably benign
R0551:Stk36	UTSW	1	74,655,780 (GRCm39)	missense	probably benign	0.00
R1118:Stk36	UTSW	1	74,671,925 (GRCm39)	missense	probably benign	0.29
R1119:Stk36	UTSW	1	74,671,925 (GRCm39)	missense	probably benign	0.29
R1471:Stk36	UTSW	1	74,650,314 (GRCm39)	missense	probably benign	0.14
R2159:Stk36	UTSW	1	74,673,896 (GRCm39)	missense	probably benign	0.00
R2290:Stk36	UTSW	1	74,665,303 (GRCm39)	splice site	probably benign
R2897:Stk36	UTSW	1	74,671,984 (GRCm39)	missense	probably null
R2898:Stk36	UTSW	1	74,671,984 (GRCm39)	missense	probably null
R4032:Stk36	UTSW	1	74,665,207 (GRCm39)	missense	probably benign
R4353:Stk36	UTSW	1	74,671,966 (GRCm39)	missense	possibly damaging	0.53
R4683:Stk36	UTSW	1	74,673,344 (GRCm39)	missense	probably benign	0.22
R4753:Stk36	UTSW	1	74,665,255 (GRCm39)	missense	probably benign	0.05
R4891:Stk36	UTSW	1	74,642,415 (GRCm39)	missense	probably damaging	1.00
R5068:Stk36	UTSW	1	74,661,504 (GRCm39)	missense	probably benign	0.00
R5115:Stk36	UTSW	1	74,674,986 (GRCm39)	missense	probably damaging	1.00
R5266:Stk36	UTSW	1	74,650,317 (GRCm39)	missense	probably benign
R5412:Stk36	UTSW	1	74,644,615 (GRCm39)	splice site	probably null
R5533:Stk36	UTSW	1	74,665,750 (GRCm39)	missense	possibly damaging	0.65
R5782:Stk36	UTSW	1	74,644,584 (GRCm39)	missense	possibly damaging	0.81
R6149:Stk36	UTSW	1	74,673,388 (GRCm39)	missense	probably benign	0.00
R6208:Stk36	UTSW	1	74,650,591 (GRCm39)	missense	probably benign	0.03
R6497:Stk36	UTSW	1	74,642,391 (GRCm39)	missense	probably damaging	1.00
R6805:Stk36	UTSW	1	74,661,398 (GRCm39)	missense	probably benign
R7064:Stk36	UTSW	1	74,649,979 (GRCm39)	missense	probably damaging	1.00
R7102:Stk36	UTSW	1	74,661,382 (GRCm39)	missense	probably benign	0.10
R7393:Stk36	UTSW	1	74,650,352 (GRCm39)	nonsense	probably null
R7408:Stk36	UTSW	1	74,672,725 (GRCm39)	missense	probably damaging	1.00
R7471:Stk36	UTSW	1	74,673,479 (GRCm39)	missense	unknown
R7816:Stk36	UTSW	1	74,650,328 (GRCm39)	nonsense	probably null
R8017:Stk36	UTSW	1	74,651,925 (GRCm39)	missense	probably benign
R8019:Stk36	UTSW	1	74,651,925 (GRCm39)	missense	probably benign
R8104:Stk36	UTSW	1	74,665,756 (GRCm39)	missense	probably benign	0.26
R8381:Stk36	UTSW	1	74,672,333 (GRCm39)	missense	probably benign
R8526:Stk36	UTSW	1	74,673,703 (GRCm39)	missense	probably benign	0.00
R8681:Stk36	UTSW	1	74,661,392 (GRCm39)	missense	probably damaging	0.99
R9320:Stk36	UTSW	1	74,655,793 (GRCm39)	missense	possibly damaging	0.64
R9436:Stk36	UTSW	1	74,650,272 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCCATTGCAGAATATACCTCTC -3'
(R):5'- ATGTCCCAGGAGCCCATATG -3'

Sequencing Primer
(F):5'- GAATGCTCATTTCTTCCAGGTCTG -3'
(R):5'- AGGAGCCCATATGCACGGAC -3'

Posted On

2014-07-14