Mutagenetix > Incidental Mutation

Incidental Mutation 'R1471:Stk36'

164846

Institutional Source

Beutler Lab

Gene Symbol

Stk36

Ensembl Gene

ENSMUSG00000033276

Gene Name

serine/threonine kinase 36

Synonyms

1700112N14Rik, Fused

MMRRC Submission

039524-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1471 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74640604-74676053 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74650314 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 282 (Q282L)

Ref Sequence

ENSEMBL: ENSMUSP00000120020 (fasta)

Gene Model

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

AlphaFold

Q69ZM6

Predicted Effect

probably benign
Transcript: ENSMUST00000087183
AA Change: Q282L

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000084430
Gene: ENSMUSG00000033276
AA Change: Q282L

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: Q282L

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000084433
Gene: ENSMUSG00000033276
AA Change: Q282L

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: Q282L

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000120020
Gene: ENSMUSG00000033276
AA Change: Q282L

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: 99.3%
3x: 98.6%
10x: 96.8%
20x: 94.4%

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	C	A	13: 61,001,336 (GRCm39)	K130N	probably damaging	Het
Adam6a	T	A	12: 113,508,013 (GRCm39)	S129T	probably damaging	Het
Adamts10	T	A	17: 33,772,112 (GRCm39)	F1087I	probably damaging	Het
Afp	T	A	5: 90,651,541 (GRCm39)	N385K	possibly damaging	Het
Ahnak	T	G	19: 8,990,296 (GRCm39)		probably benign	Het
Akap6	A	G	12: 53,188,279 (GRCm39)	T1898A	probably benign	Het
Antxr2	C	A	5: 98,123,199 (GRCm39)	V283F	possibly damaging	Het
Asgr1	T	C	11: 69,946,919 (GRCm39)	V55A	possibly damaging	Het
Asxl3	A	G	18: 22,649,411 (GRCm39)	K467E	probably damaging	Het
Atp5f1a	C	A	18: 77,868,969 (GRCm39)	Q398K	probably damaging	Het
Atxn2	T	A	5: 121,924,437 (GRCm39)	D455E	probably damaging	Het
B4galt6	C	T	18: 20,878,410 (GRCm39)	A39T	possibly damaging	Het
C130073F10Rik	C	T	4: 101,747,535 (GRCm39)	E165K	probably benign	Het
Cabin1	A	G	10: 75,530,626 (GRCm39)	C1519R	probably damaging	Het
Casp8ap2	C	T	4: 32,639,386 (GRCm39)	R147*	probably null	Het
Ccdc88b	A	G	19: 6,831,391 (GRCm39)	L517P	probably benign	Het
Cd109	G	A	9: 78,561,869 (GRCm39)	V220I	probably damaging	Het
Cd2ap	T	C	17: 43,131,488 (GRCm39)	K369R	probably benign	Het
Cd300c	A	G	11: 114,850,614 (GRCm39)	V63A	probably benign	Het
Cnot10	A	G	9: 114,420,619 (GRCm39)	V741A	probably benign	Het
Col18a1	G	T	10: 76,932,040 (GRCm39)	Q350K	unknown	Het
Crnkl1	T	C	2: 145,774,236 (GRCm39)	K76E	possibly damaging	Het
Cryzl2	A	G	1: 157,298,291 (GRCm39)	K227E	probably benign	Het
Cts6	G	A	13: 61,344,194 (GRCm39)	T286I	probably benign	Het
Cul1	T	C	6: 47,491,820 (GRCm39)	V392A	probably damaging	Het
Dcaf7	T	A	11: 105,937,573 (GRCm39)	F65L	probably benign	Het
Dgke	A	C	11: 88,946,320 (GRCm39)	V160G	possibly damaging	Het
Dock8	C	A	19: 25,178,400 (GRCm39)	Q2098K	possibly damaging	Het
Efhb	T	A	17: 53,706,140 (GRCm39)	D799V	possibly damaging	Het
Ephb2	T	C	4: 136,386,262 (GRCm39)	D829G	probably benign	Het
Exosc1	A	T	19: 41,913,157 (GRCm39)	S117R	probably damaging	Het
Fga	T	C	3: 82,935,925 (GRCm39)	S51P	probably benign	Het
Fmn1	T	C	2: 113,523,439 (GRCm39)	F1141L	possibly damaging	Het
Foxm1	C	T	6: 128,350,837 (GRCm39)	L713F	probably damaging	Het
Galnt4	A	G	10: 98,944,536 (GRCm39)	E87G	probably benign	Het
Gamt	T	C	10: 80,096,692 (GRCm39)	D15G	probably benign	Het
Gm15557	C	A	2: 155,784,174 (GRCm39)	D154E	possibly damaging	Het
Gnptab	A	G	10: 88,281,625 (GRCm39)	I1211V	probably benign	Het
Greb1	A	T	12: 16,761,775 (GRCm39)	M535K	probably damaging	Het
Grm8	C	A	6: 27,363,308 (GRCm39)	A736S	possibly damaging	Het
Hspa14	T	C	2: 3,492,645 (GRCm39)	I373M	probably benign	Het
Ifi207	T	A	1: 173,557,629 (GRCm39)	T370S	unknown	Het
Igf1r	A	G	7: 67,653,585 (GRCm39)	N41S	probably damaging	Het
Ikzf5	A	T	7: 130,993,496 (GRCm39)	V224D	probably damaging	Het
Il10	C	A	1: 130,949,110 (GRCm39)	Y90*	probably null	Het
Itga4	A	G	2: 79,117,376 (GRCm39)	D394G	probably benign	Het
Kif21a	A	T	15: 90,840,622 (GRCm39)	S1165T	probably benign	Het
Krtap14	A	G	16: 88,622,515 (GRCm39)	S155P	probably damaging	Het
Loxl2	A	G	14: 69,930,546 (GRCm39)	N770S	probably benign	Het
Man2b1	A	G	8: 85,813,474 (GRCm39)	D222G	probably damaging	Het
Mcub	T	A	3: 129,709,464 (GRCm39)	Y283F	probably damaging	Het
Meis3	T	A	7: 15,911,496 (GRCm39)	Y64*	probably null	Het
Mfsd6	T	A	1: 52,748,716 (GRCm39)	I50F	probably benign	Het
Micu2	T	C	14: 58,182,854 (GRCm39)	T165A	probably damaging	Het
Mtcl1	T	C	17: 66,686,143 (GRCm39)	E921G	probably damaging	Het
Muc5b	A	T	7: 141,396,971 (GRCm39)	N215Y	unknown	Het
Muc6	A	G	7: 141,234,176 (GRCm39)	F772L	possibly damaging	Het
Myt1	A	G	2: 181,438,904 (GRCm39)	D142G	probably benign	Het
Nol6	C	T	4: 41,120,281 (GRCm39)	V479I	probably benign	Het
Nsun7	A	G	5: 66,441,572 (GRCm39)	K414E	probably benign	Het
Nup210l	A	C	3: 90,077,869 (GRCm39)	I914L	probably benign	Het
Obox3	G	A	7: 15,360,875 (GRCm39)	P88L	probably benign	Het
Or10ag57	A	G	2: 87,218,862 (GRCm39)	Y271C	probably damaging	Het
Or4f4b	T	C	2: 111,314,351 (GRCm39)	L192P	probably damaging	Het
Or8h8	C	T	2: 86,752,922 (GRCm39)		probably null	Het
Or8w1	T	C	2: 87,466,014 (GRCm39)	T26A	probably benign	Het
Pclo	T	C	5: 14,730,441 (GRCm39)		probably benign	Het
Pcsk5	T	C	19: 17,545,688 (GRCm39)	N745D	probably damaging	Het
Pdzrn3	T	A	6: 101,128,473 (GRCm39)	N731I	possibly damaging	Het
Pkdrej	T	A	15: 85,701,334 (GRCm39)	Q1534L	probably benign	Het
Pramel28	T	C	4: 143,691,523 (GRCm39)	N400S	probably benign	Het
Rell1	T	A	5: 64,093,428 (GRCm39)	D109V	probably damaging	Het
Rplp0	C	T	5: 115,701,403 (GRCm39)	T285I	probably damaging	Het
Sanbr	A	T	11: 23,565,222 (GRCm39)	M255K	probably damaging	Het
Sema3g	C	T	14: 30,950,002 (GRCm39)	R728C	probably damaging	Het
Slc15a2	A	G	16: 36,574,153 (GRCm39)	Y536H	probably damaging	Het
Slc26a5	T	A	5: 22,021,962 (GRCm39)	Y488F	probably benign	Het
Slc5a4a	A	T	10: 76,022,362 (GRCm39)	S566C	probably damaging	Het
Spink7	C	T	18: 62,729,275 (GRCm39)	E21K	possibly damaging	Het
Src	C	T	2: 157,299,107 (GRCm39)	Q35*	probably null	Het
Srrm2	T	A	17: 24,039,770 (GRCm39)	V2234E	probably damaging	Het
Tas2r118	T	G	6: 23,969,170 (GRCm39)	E297A	probably damaging	Het
Terf1	A	G	1: 15,913,194 (GRCm39)	Y385C	probably damaging	Het
Tmc3	T	C	7: 83,247,498 (GRCm39)	S198P	probably damaging	Het
Tmprss11b	C	T	5: 86,808,355 (GRCm39)	R407H	possibly damaging	Het
Tspyl4	G	A	10: 34,174,107 (GRCm39)	E200K	probably damaging	Het
Ttc21a	T	C	9: 119,771,707 (GRCm39)	Y169H	probably damaging	Het
Ugt2b36	C	T	5: 87,239,930 (GRCm39)	D152N	probably damaging	Het
Unk	T	C	11: 115,940,235 (GRCm39)	I196T	probably benign	Het
Uroc1	T	G	6: 90,321,153 (GRCm39)	V243G	probably damaging	Het
Usp34	C	A	11: 23,438,862 (GRCm39)	Q3475K	probably benign	Het
Vmn2r117	T	A	17: 23,697,447 (GRCm39)	I82L	probably benign	Het
Vmn2r44	A	T	7: 8,380,882 (GRCm39)	V337E	probably damaging	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	probably damaging	Het
Zfp362	T	C	4: 128,680,993 (GRCm39)	T111A	probably benign	Het
Zfp598	T	C	17: 24,899,046 (GRCm39)	V615A	probably benign	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
R1915:Stk36	UTSW	1	74,673,346 (GRCm39)	missense	probably benign	0.08
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'- CGTGTCACCAGTGAGTCATCAGAG -3'
(R):5'- CGTCTTCTTGTTCAAGGGCAGATCC -3'

Sequencing Primer
(F):5'- CCAGTGAGTCATCAGAGTTCCTG -3'
(R):5'- AAGGGCAGATCCTGCATTTTG -3'

Posted On

2014-03-28