Mutagenetix > Incidental Mutation

Incidental Mutation 'R7102:Stk36'

550871

Institutional Source

Beutler Lab

Gene Symbol

Stk36

Ensembl Gene

ENSMUSG00000033276

Gene Name

serine/threonine kinase 36

Synonyms

1700112N14Rik, Fused

MMRRC Submission

045194-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7102 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74640604-74676053 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74661382 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 470 (S470P)

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: S470P

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000084430
Gene: ENSMUSG00000033276
AA Change: S470P

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: S470P

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000120020
Gene: ENSMUSG00000033276
AA Change: S470P

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,285,215 (GRCm39)	H3283L	probably damaging	Het
Abcb1a	T	G	5: 8,744,072 (GRCm39)	S233A	probably benign	Het
Actr10	T	C	12: 70,999,805 (GRCm39)		probably null	Het
Acvr2b	C	T	9: 119,261,619 (GRCm39)	A380V	probably damaging	Het
Adcy5	A	G	16: 35,119,995 (GRCm39)	E1168G	probably damaging	Het
Akap12	C	T	10: 4,303,226 (GRCm39)	T117I	probably damaging	Het
Alox5	T	A	6: 116,390,429 (GRCm39)	Y516F	probably benign	Het
Amigo2	T	C	15: 97,143,741 (GRCm39)	N227S	probably damaging	Het
Anpep	C	A	7: 79,486,061 (GRCm39)	V554L	probably benign	Het
Ap5b1	T	A	19: 5,620,215 (GRCm39)	V545E	possibly damaging	Het
Bbs9	C	T	9: 22,490,849 (GRCm39)	L326F	probably damaging	Het
Bltp1	T	G	3: 36,994,947 (GRCm39)	Y990D	probably damaging	Het
Cadps	C	T	14: 12,603,738 (GRCm38)	G361R	probably damaging	Het
Ccdc57	C	A	11: 120,812,557 (GRCm39)	E66*	probably null	Het
Ccr6	G	A	17: 8,475,019 (GRCm39)	V75I	probably benign	Het
Cdk6	T	C	5: 3,570,709 (GRCm39)	F300S	probably damaging	Het
Cenpb	A	C	2: 131,020,799 (GRCm39)	V333G	probably damaging	Het
Clca4a	T	C	3: 144,667,670 (GRCm39)	I434V	probably benign	Het
Coro2b	T	A	9: 62,328,667 (GRCm39)	D447V	possibly damaging	Het
Cpeb3	T	C	19: 37,152,119 (GRCm39)	S86G	probably benign	Het
Cry2	C	A	2: 92,243,438 (GRCm39)	A468S	probably damaging	Het
Csf2rb2	T	C	15: 78,181,272 (GRCm39)	Y40C	probably damaging	Het
Ddx49	T	A	8: 70,753,726 (GRCm39)	T48S	probably damaging	Het
Dennd10	T	A	19: 60,821,034 (GRCm39)	M272K	probably damaging	Het
Dip2c	A	G	13: 9,654,572 (GRCm39)	T727A	probably benign	Het
Dnai3	A	T	3: 145,761,459 (GRCm39)	S632R	possibly damaging	Het
Ebf4	A	T	2: 130,151,651 (GRCm39)	I183F	probably benign	Het
Elavl3	G	T	9: 21,930,025 (GRCm39)	P293Q	possibly damaging	Het
Esyt1	A	T	10: 128,352,105 (GRCm39)	L768Q	probably damaging	Het
Fat2	G	A	11: 55,174,260 (GRCm39)	P2151L	probably damaging	Het
Fgfbp3	G	T	19: 36,896,606 (GRCm39)	A4E	possibly damaging	Het
Flg	T	A	3: 93,200,335 (GRCm39)	V277D	unknown	Het
Fndc3b	T	C	3: 27,524,383 (GRCm39)	D459G	possibly damaging	Het
Fras1	A	G	5: 96,718,900 (GRCm39)	Q438R	probably benign	Het
Glipr1l2	A	T	10: 111,928,330 (GRCm39)		probably null	Het
Gm7347	T	A	5: 26,262,382 (GRCm39)		probably null	Het
Grm6	G	A	11: 50,753,804 (GRCm39)	V703I	possibly damaging	Het
Gtf2h1	T	A	7: 46,468,550 (GRCm39)	V496E	probably benign	Het
Ifna12	A	G	4: 88,521,388 (GRCm39)	L53P	probably damaging	Het
Invs	T	A	4: 48,407,674 (GRCm39)	S550T	probably benign	Het
Irak2	G	T	6: 113,663,810 (GRCm39)	C453F	probably damaging	Het
Itih2	G	T	2: 10,110,574 (GRCm39)	Q506K	probably benign	Het
Kidins220	T	C	12: 25,107,662 (GRCm39)	I1614T	probably benign	Het
Krtap5-3	T	A	7: 141,755,992 (GRCm39)	C276*	probably null	Het
Lama3	T	A	18: 12,685,870 (GRCm39)	M1128K	possibly damaging	Het
Lhfpl4	C	T	6: 113,171,106 (GRCm39)	A27T	possibly damaging	Het
Lyplal1	A	G	1: 185,832,524 (GRCm39)	V77A	probably damaging	Het
Malrd1	A	T	2: 16,147,114 (GRCm39)	E1985D	unknown	Het
Mlx	A	C	11: 100,979,802 (GRCm39)	Q161P	probably benign	Het
Mroh2b	T	A	15: 4,977,485 (GRCm39)	M1279K	probably benign	Het
Myh7b	A	G	2: 155,464,119 (GRCm39)	E540G	probably damaging	Het
Neb	T	A	2: 52,194,067 (GRCm39)	D653V	probably damaging	Het
Nek10	T	A	14: 14,828,517 (GRCm38)	L113Q	probably damaging	Het
Nlrp4c	T	A	7: 6,068,708 (GRCm39)	L203*	probably null	Het
Nscme3l	T	A	19: 5,553,623 (GRCm39)	T53S	probably benign	Het
Ntpcr	T	A	8: 126,456,794 (GRCm39)	C5S	unknown	Het
Nwd1	A	G	8: 73,421,957 (GRCm39)	D1001G	probably damaging	Het
Or12j5	T	A	7: 140,084,229 (GRCm39)	T48S	probably benign	Het
Or14a256	C	T	7: 86,265,475 (GRCm39)	C126Y	probably benign	Het
Or4p22	T	A	2: 88,317,492 (GRCm39)	C139S	probably damaging	Het
Or6c208	A	C	10: 129,224,036 (GRCm39)	D178A	probably damaging	Het
Osbpl3	T	A	6: 50,297,115 (GRCm39)	S564C	probably damaging	Het
Pax6	C	A	2: 105,522,604 (GRCm39)	P264T	probably damaging	Het
Plppr4	T	C	3: 117,116,832 (GRCm39)	R342G	probably damaging	Het
Prg4	C	T	1: 150,328,005 (GRCm39)	C220Y	probably damaging	Het
Prune2	T	A	19: 17,098,577 (GRCm39)	D1360E	probably benign	Het
Ranbp2	T	A	10: 58,299,772 (GRCm39)	S469T	probably damaging	Het
Rbfox1	A	T	16: 7,187,698 (GRCm39)	K43N	probably benign	Het
Rgs22	T	C	15: 36,122,459 (GRCm39)	D25G	probably damaging	Het
Rnf113a2	G	A	12: 84,464,545 (GRCm39)	G146S	probably damaging	Het
Sbpl	T	A	17: 24,173,608 (GRCm39)	K55*	probably null	Het
Scel	G	A	14: 103,781,268 (GRCm39)	W138*	probably null	Het
Scgb2b19	T	C	7: 32,979,711 (GRCm39)	I12V	probably null	Het
Scn9a	T	A	2: 66,379,359 (GRCm39)	M358L	probably damaging	Het
Sdk2	C	A	11: 113,733,516 (GRCm39)	E924*	probably null	Het
Sipa1l3	T	C	7: 29,048,012 (GRCm39)	Q1292R	possibly damaging	Het
Skint4	G	A	4: 111,975,298 (GRCm39)	G86D	probably damaging	Het
Slc28a3	C	T	13: 58,736,028 (GRCm39)	V57I	probably benign	Het
Slc9a4	T	C	1: 40,662,559 (GRCm39)	S609P	probably damaging	Het
Slc9a4	C	T	1: 40,619,799 (GRCm39)	P42S	probably benign	Het
Slitrk1	T	A	14: 109,150,061 (GRCm39)	T217S	probably benign	Het
Spindoc	C	T	19: 7,335,807 (GRCm39)	R327H	probably benign	Het
Sypl1	C	T	12: 33,024,254 (GRCm39)	P196L	probably benign	Het
Tekt4	T	A	17: 25,693,718 (GRCm39)	I285N	probably damaging	Het
Tgm5	T	A	2: 120,876,979 (GRCm39)	I686F	possibly damaging	Het
Thsd4	C	A	9: 59,883,587 (GRCm39)	R933L	probably damaging	Het
Treml1	T	A	17: 48,673,700 (GRCm39)	I237N	probably damaging	Het
Txndc16	T	C	14: 45,442,839 (GRCm39)	I119V	probably benign	Het
Ubr3	C	A	2: 69,728,166 (GRCm39)	N176K	probably damaging	Het
Vit	A	G	17: 78,932,426 (GRCm39)	Y511C	probably damaging	Het
Vwa5b2	G	A	16: 20,422,984 (GRCm39)	G994D	probably benign	Het
Wnk1	T	C	6: 119,925,268 (GRCm39)	T1648A	unknown	Het
Ythdf1	G	A	2: 180,553,315 (GRCm39)	T300I	probably damaging	Het
Zan	A	G	5: 137,452,462 (GRCm39)		probably null	Het
Zbbx	A	G	3: 75,019,401 (GRCm39)	L103P	probably benign	Het
Zfp105	A	G	9: 122,758,869 (GRCm39)	D180G	probably damaging	Het
Zfp114	T	A	7: 23,880,083 (GRCm39)	L144Q	possibly damaging	Het
Zfp128	T	C	7: 12,624,399 (GRCm39)	C256R	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
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
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'- TCCATAGTTTTCTCTGGTGCAG -3'
(R):5'- ACCACCCCTTGTCTTCAGAG -3'

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

Posted On

2019-05-15