Mutagenetix > Incidental Mutation

Incidental Mutation 'R0373:Stk36'

30572

Institutional Source

Beutler Lab

Gene Symbol

Stk36

Ensembl Gene

ENSMUSG00000033276

Gene Name

serine/threonine kinase 36

Synonyms

1700112N14Rik, Fused

MMRRC Submission

038579-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0373 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74640604-74676053 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74672779 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1007 (L1007P)

Ref Sequence

ENSEMBL: ENSMUSP00000120020 (fasta)

Gene Model

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

AlphaFold

Q69ZM6

Predicted Effect

probably damaging
Transcript: ENSMUST00000087183
AA Change: L1009P

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000084430
Gene: ENSMUSG00000033276
AA Change: L1009P

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: L881P

SMART Domains

Protein: ENSMUSP00000084433
Gene: ENSMUSG00000033276
AA Change: L881P

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 damaging
Transcript: ENSMUST00000148456
AA Change: L1007P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120020
Gene: ENSMUSG00000033276
AA Change: L1007P

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

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.8%
20x: 91.5%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	A	T	3: 137,879,343 (GRCm39)	L235Q	probably damaging	Het
Aadacl4fm4	A	T	4: 144,412,790 (GRCm39)	M50K	possibly damaging	Het
Adam6b	T	A	12: 113,454,275 (GRCm39)	V364D	probably benign	Het
Akap13	T	C	7: 75,259,677 (GRCm39)	L767P	probably benign	Het
Akap13	T	A	7: 75,380,248 (GRCm39)	S2193T	probably damaging	Het
Anapc11	T	C	11: 120,496,203 (GRCm39)	V69A	probably benign	Het
Ankmy1	C	T	1: 92,823,912 (GRCm39)	R118Q	probably damaging	Het
Ankrd27	T	C	7: 35,337,478 (GRCm39)	S931P	probably benign	Het
Atp6v1c2	G	A	12: 17,338,169 (GRCm39)	R280C	probably damaging	Het
Bbs10	T	A	10: 111,135,913 (GRCm39)	I342N	probably damaging	Het
Calhm2	T	C	19: 47,121,389 (GRCm39)	D260G	possibly damaging	Het
Camk2a	A	G	18: 61,091,310 (GRCm39)	E264G	probably damaging	Het
Ccdc146	T	A	5: 21,524,543 (GRCm39)	M270L	probably benign	Het
Cdc16	A	G	8: 13,829,264 (GRCm39)	T517A	probably benign	Het
Ces1g	T	C	8: 94,057,821 (GRCm39)	H160R	probably benign	Het
Chst4	T	C	8: 110,757,026 (GRCm39)	N196S	probably damaging	Het
Ciz1	A	T	2: 32,257,479 (GRCm39)	N175Y	probably damaging	Het
Cyb5r4	G	A	9: 86,909,093 (GRCm39)	V57I	probably damaging	Het
Cyth3	A	G	5: 143,670,181 (GRCm39)		probably benign	Het
Def6	A	G	17: 28,439,154 (GRCm39)	E255G	probably damaging	Het
Dhtkd1	T	G	2: 5,916,681 (GRCm39)	Q665P	probably damaging	Het
Dsg3	A	C	18: 20,672,804 (GRCm39)	D825A	probably damaging	Het
Eif3m	T	C	2: 104,835,345 (GRCm39)	T242A	probably benign	Het
Emilin3	A	G	2: 160,751,737 (GRCm39)	F101L	probably benign	Het
Epha7	A	G	4: 28,935,700 (GRCm39)		probably null	Het
Fbxo45	A	T	16: 32,057,223 (GRCm39)	Y224N	probably damaging	Het
Fhod3	A	T	18: 25,223,161 (GRCm39)	M836L	possibly damaging	Het
Fut4	C	A	9: 14,662,506 (GRCm39)	V263F	probably damaging	Het
Ggt1	C	T	10: 75,415,104 (GRCm39)	T206M	probably benign	Het
Gls	T	C	1: 52,227,858 (GRCm39)	R79G	probably damaging	Het
Grhl1	T	C	12: 24,631,514 (GRCm39)	S156P	probably benign	Het
Ipo8	C	T	6: 148,676,540 (GRCm39)	S983N	probably benign	Het
Kcna7	C	T	7: 45,058,868 (GRCm39)	A385V	probably damaging	Het
Kpnb1	A	T	11: 97,075,916 (GRCm39)	L40Q	probably damaging	Het
Matn1	A	T	4: 130,677,417 (GRCm39)	S209C	probably damaging	Het
Mcc	A	G	18: 44,608,289 (GRCm39)	I501T	probably benign	Het
Mdp1	A	T	14: 55,896,832 (GRCm39)	F104L	probably damaging	Het
Mib2	A	T	4: 155,740,745 (GRCm39)	N626K	probably damaging	Het
Mrgprh	T	C	17: 13,095,843 (GRCm39)	S28P	possibly damaging	Het
Mup-ps23	T	A	4: 61,774,386 (GRCm39)		noncoding transcript	Het
Myh15	A	G	16: 49,003,322 (GRCm39)	T1794A	possibly damaging	Het
Myo18a	C	G	11: 77,711,868 (GRCm39)	P680A	probably benign	Het
Myom2	G	T	8: 15,148,419 (GRCm39)	D532Y	possibly damaging	Het
Ndufaf5	A	G	2: 140,012,801 (GRCm39)	N57S	probably benign	Het
Nectin3	C	T	16: 46,278,550 (GRCm39)	V282M	probably damaging	Het
Nup188	G	T	2: 30,221,000 (GRCm39)	D997Y	probably damaging	Het
Olfm3	T	C	3: 114,916,454 (GRCm39)	V462A	probably damaging	Het
Opcml	A	G	9: 28,724,694 (GRCm39)	H164R	possibly damaging	Het
Or14a259	A	T	7: 86,013,013 (GRCm39)	C177*	probably null	Het
Or4c120	A	T	2: 89,000,757 (GRCm39)	F266L	probably benign	Het
Or8u9	A	C	2: 86,002,050 (GRCm39)	F37C	probably damaging	Het
Pacrg	A	G	17: 10,622,347 (GRCm39)	I209T	probably damaging	Het
Pcf11	T	C	7: 92,310,423 (GRCm39)	M522V	probably benign	Het
Pck1	T	A	2: 172,995,183 (GRCm39)	M1K	probably null	Het
Pcm1	G	T	8: 41,729,148 (GRCm39)	E707*	probably null	Het
Pcsk5	G	A	19: 17,632,213 (GRCm39)	R318W	probably damaging	Het
Phf11d	A	T	14: 59,590,793 (GRCm39)	M188K	possibly damaging	Het
Ppip5k2	A	T	1: 97,668,262 (GRCm39)	C615*	probably null	Het
Prkdc	T	A	16: 15,609,791 (GRCm39)	S3132T	probably damaging	Het
Prl2c5	A	T	13: 13,357,609 (GRCm39)		probably benign	Het
Prpsap2	A	G	11: 61,631,826 (GRCm39)	I177T	possibly damaging	Het
Rad50	A	G	11: 53,541,346 (GRCm39)	S1297P	probably damaging	Het
Rasip1	T	A	7: 45,284,668 (GRCm39)	N678K	possibly damaging	Het
Rubcn	A	G	16: 32,656,350 (GRCm39)	S544P	probably damaging	Het
Rwdd2a	A	T	9: 86,456,453 (GRCm39)	T210S	possibly damaging	Het
Scd2	A	G	19: 44,291,479 (GRCm39)	D306G	probably damaging	Het
Sema3b	T	C	9: 107,480,117 (GRCm39)	N207S	probably benign	Het
Sf3b2	C	T	19: 5,324,852 (GRCm39)	D845N	probably damaging	Het
Sipa1l2	C	A	8: 126,191,149 (GRCm39)	C947F	probably damaging	Het
Slc12a1	A	T	2: 125,067,951 (GRCm39)	T1013S	probably damaging	Het
Slc18a2	A	T	19: 59,275,799 (GRCm39)	I461L	probably benign	Het
Slc1a6	C	A	10: 78,637,756 (GRCm39)	Y427*	probably null	Het
Slc30a4	A	T	2: 122,531,319 (GRCm39)	I231K	probably damaging	Het
Sos1	G	T	17: 80,761,192 (GRCm39)	A168D	probably damaging	Het
Spata31f1a	T	C	4: 42,851,161 (GRCm39)	I332V	probably benign	Het
Sptb	T	C	12: 76,668,145 (GRCm39)	S651G	probably benign	Het
Tek	A	T	4: 94,692,578 (GRCm39)	N229Y	probably damaging	Het
Tep1	A	G	14: 51,074,225 (GRCm39)	F1887L	possibly damaging	Het
Tet1	A	T	10: 62,713,988 (GRCm39)	C602*	probably null	Het
Tnfrsf19	A	G	14: 61,209,485 (GRCm39)	S262P	possibly damaging	Het
Trim5	T	C	7: 103,914,891 (GRCm39)	I393V	probably benign	Het
Trpm6	A	G	19: 18,830,951 (GRCm39)	E1272G	probably benign	Het
Ttc21b	A	T	2: 66,018,670 (GRCm39)	Y1246N	probably damaging	Het
Ttll3	T	A	6: 113,375,738 (GRCm39)	L151H	probably damaging	Het
U2surp	C	T	9: 95,366,496 (GRCm39)	V470I	probably benign	Het
Ubr1	A	T	2: 120,777,138 (GRCm39)	Y276N	probably benign	Het
Uggt1	A	G	1: 36,218,751 (GRCm39)	S59P	probably benign	Het
Unc45a	T	C	7: 79,976,092 (GRCm39)	T796A	probably damaging	Het
Unc5b	C	A	10: 60,614,719 (GRCm39)	V193F	possibly damaging	Het
Upp1	G	T	11: 9,079,590 (GRCm39)	M50I	probably benign	Het
Vps18	C	T	2: 119,124,386 (GRCm39)	R438C	probably damaging	Het
Zfp715	T	C	7: 42,948,760 (GRCm39)	Y400C	possibly damaging	Het
Zfp955b	T	C	17: 33,521,496 (GRCm39)	Y322H	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
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
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'- TTAGAGGCAGCGTCTTAGAGCGAG -3'
(R):5'- TGAAACCAAATTGGAGCCCAAGAGC -3'

Sequencing Primer
(F):5'- AGAGCGAGTCTGTTTTCCTC -3'
(R):5'- GAGCCCAAGAGCAGATTCTTTC -3'

Posted On

2013-04-24