Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03125:Stk36'

410127

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stk36

Ensembl Gene

ENSMUSG00000033276

Gene Name

serine/threonine kinase 36

Synonyms

1700112N14Rik, Fused

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03125

Quality Score

Status

Chromosome

Chromosomal Location

74640604-74676053 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74662472 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 530 (D530V)

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: D530V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000084430
Gene: ENSMUSG00000033276
AA Change: D530V

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

noncoding transcript
Transcript: ENSMUST00000123154

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145673

Predicted Effect

probably damaging
Transcript: ENSMUST00000148456
AA Change: D530V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000120020
Gene: ENSMUSG00000033276
AA Change: D530V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157007

Coding Region Coverage

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: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	C	5: 114,342,866 (GRCm39)	S911R	possibly damaging	Het
Acap1	G	A	11: 69,777,864 (GRCm39)	R125C	probably damaging	Het
Car7	A	T	8: 105,274,851 (GRCm39)	S131C	probably benign	Het
Erich6	G	T	3: 58,531,727 (GRCm39)	T423N	probably benign	Het
Insr	T	C	8: 3,234,972 (GRCm39)	H174R	possibly damaging	Het
Lrch3	A	G	16: 32,734,647 (GRCm39)	S46G	possibly damaging	Het
Meis3	G	T	7: 15,912,695 (GRCm39)	R144L	probably damaging	Het
Obscn	T	C	11: 58,952,474 (GRCm39)	E4162G	probably damaging	Het
Or10ak9	A	T	4: 118,726,118 (GRCm39)	I47F	possibly damaging	Het
Or4m1	T	C	14: 50,558,149 (GRCm39)	T48A	probably benign	Het
Per2	T	C	1: 91,378,333 (GRCm39)	H72R	probably benign	Het
Prdm11	C	T	2: 92,810,967 (GRCm39)	A211T	probably benign	Het
Pygl	A	G	12: 70,244,256 (GRCm39)	S471P	probably damaging	Het
Reln	A	T	5: 22,115,842 (GRCm39)	N3055K	probably damaging	Het
Spata31	A	C	13: 65,068,703 (GRCm39)	N284H	probably benign	Het
Stxbp5l	G	T	16: 37,007,083 (GRCm39)	D703E	probably benign	Het
Usp24	A	G	4: 106,249,599 (GRCm39)	I1439V	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
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
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

Posted On

2016-08-02