Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00515:Slk'

29479

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slk

Ensembl Gene

ENSMUSG00000025060

Gene Name

STE20-like kinase

Synonyms

9A2, Stk2, mSLK, Etk4, SLK

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00515

Quality Score

Status

Chromosome

Chromosomal Location

47579678-47645246 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 47642096 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000084141 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026043] [ENSMUST00000026045] [ENSMUST00000051691] [ENSMUST00000086923]

Predicted Effect

probably benign
Transcript: ENSMUST00000026043

SMART Domains

Protein: ENSMUSP00000026043
Gene: ENSMUSG00000025060

Domain	Start	End	E-Value	Type
S_TKc	34	292	3.18e-99	SMART
low complexity region	305	328	N/A	INTRINSIC
low complexity region	442	452	N/A	INTRINSIC
low complexity region	585	600	N/A	INTRINSIC
low complexity region	690	703	N/A	INTRINSIC
low complexity region	783	795	N/A	INTRINSIC
Pfam:PKK	849	928	1.2e-19	PFAM
Pfam:PKK	986	1127	7.4e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000026045

SMART Domains

Protein: ENSMUSP00000026045
Gene: ENSMUSG00000025064

Domain	Start	End	E-Value	Type
low complexity region	12	28	N/A	INTRINSIC
low complexity region	60	74	N/A	INTRINSIC
low complexity region	317	335	N/A	INTRINSIC
low complexity region	431	461	N/A	INTRINSIC
transmembrane domain	476	498	N/A	INTRINSIC
Pfam:Collagen	570	631	3.2e-10	PFAM
low complexity region	634	651	N/A	INTRINSIC
low complexity region	657	693	N/A	INTRINSIC
internal_repeat_4	695	714	1.12e-5	PROSPERO
internal_repeat_3	695	723	3.81e-6	PROSPERO
internal_repeat_1	709	735	1.93e-9	PROSPERO
internal_repeat_4	719	738	1.12e-5	PROSPERO
Pfam:Collagen	753	816	1.3e-10	PFAM
Pfam:Collagen	825	871	5.9e-9	PFAM
low complexity region	889	927	N/A	INTRINSIC
low complexity region	939	960	N/A	INTRINSIC
low complexity region	981	999	N/A	INTRINSIC
low complexity region	1024	1034	N/A	INTRINSIC
low complexity region	1054	1071	N/A	INTRINSIC
low complexity region	1091	1113	N/A	INTRINSIC
low complexity region	1126	1147	N/A	INTRINSIC
low complexity region	1165	1177	N/A	INTRINSIC
low complexity region	1201	1217	N/A	INTRINSIC
low complexity region	1252	1266	N/A	INTRINSIC
low complexity region	1275	1337	N/A	INTRINSIC
low complexity region	1375	1385	N/A	INTRINSIC
Pfam:Collagen	1408	1462	3.5e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000051691

SMART Domains

Protein: ENSMUSP00000049977
Gene: ENSMUSG00000025060

Domain	Start	End	E-Value	Type
S_TKc	34	292	3.18e-99	SMART
low complexity region	305	328	N/A	INTRINSIC
low complexity region	442	452	N/A	INTRINSIC
low complexity region	585	600	N/A	INTRINSIC
low complexity region	690	703	N/A	INTRINSIC
low complexity region	783	795	N/A	INTRINSIC
Pfam:PKK	850	988	1.6e-40	PFAM
Pfam:PKK	1018	1158	1.2e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000086923

SMART Domains

Protein: ENSMUSP00000084141
Gene: ENSMUSG00000025064

Domain	Start	End	E-Value	Type
low complexity region	12	28	N/A	INTRINSIC
low complexity region	60	74	N/A	INTRINSIC
low complexity region	317	335	N/A	INTRINSIC
low complexity region	431	461	N/A	INTRINSIC
transmembrane domain	476	498	N/A	INTRINSIC
Pfam:Collagen	570	631	3.1e-10	PFAM
Pfam:Collagen	647	726	5.2e-7	PFAM
Pfam:Collagen	699	772	1.8e-9	PFAM
Pfam:Collagen	753	816	1.3e-10	PFAM
Pfam:Collagen	825	871	5.9e-9	PFAM
low complexity region	889	927	N/A	INTRINSIC
low complexity region	939	960	N/A	INTRINSIC
low complexity region	981	999	N/A	INTRINSIC
low complexity region	1024	1034	N/A	INTRINSIC
low complexity region	1054	1071	N/A	INTRINSIC
low complexity region	1091	1113	N/A	INTRINSIC
low complexity region	1126	1147	N/A	INTRINSIC
low complexity region	1164	1180	N/A	INTRINSIC
low complexity region	1215	1229	N/A	INTRINSIC
low complexity region	1238	1300	N/A	INTRINSIC
low complexity region	1338	1348	N/A	INTRINSIC
Pfam:Collagen	1371	1425	3.5e-9	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trapped allele die by E14.5, exhibiting severe developmental defects, impaired neuronal and skeletal muscle development, abnormal placental differentiation and vascularization, and increased apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	T	C	8: 71,457,319	E395G	probably damaging	Het
Agbl2	T	C	2: 90,793,960	V188A	possibly damaging	Het
Arap3	A	G	18: 37,975,926	L1225P	probably damaging	Het
Btn2a2	A	T	13: 23,478,576	N372K	probably damaging	Het
C4b	T	C	17: 34,728,891	D1650G	probably damaging	Het
Dip2b	G	A	15: 100,174,501	R706Q	probably damaging	Het
Dscam	T	A	16: 96,608,065	N1886I	possibly damaging	Het
Fam122a	T	C	19: 24,476,632	D242G	probably damaging	Het
Foxp2	A	T	6: 15,403,819	H390L	probably damaging	Het
Galnt5	T	C	2: 57,999,068	S227P	probably benign	Het
Hectd2	A	G	19: 36,584,936	T148A	probably benign	Het
Helz2	C	T	2: 181,233,006	W1898*	probably null	Het
Hmgxb4	C	A	8: 75,000,911	P174Q	probably damaging	Het
Il6st	A	G	13: 112,481,433		probably null	Het
Lef1	A	G	3: 131,204,277	R312G	probably damaging	Het
Mast2	G	T	4: 116,311,329	R805S	probably benign	Het
Naip2	C	T	13: 100,154,887	R1181K	probably benign	Het
Nfatc1	G	T	18: 80,667,026	H508Q	probably damaging	Het
Plekhg4	A	G	8: 105,375,738	T76A	probably benign	Het
Rln1	C	T	19: 29,332,014	V122I	possibly damaging	Het
Slc22a28	T	C	19: 8,117,064	I198V	probably benign	Het
Slco1c1	G	A	6: 141,569,482	R702H	probably benign	Het
Slit1	T	A	19: 41,624,501	H860L	probably damaging	Het
Stab1	A	T	14: 31,159,729	I535N	probably benign	Het
Tigar	A	C	6: 127,088,079	M202R	probably damaging	Het
Tsc22d1	A	G	14: 76,418,477	S42G	probably damaging	Het
Zc3h7a	A	T	16: 11,137,338	N957K	probably damaging	Het

Other mutations in Slk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00488:Slk	APN	19	47619709	missense	probably benign	0.00
IGL00755:Slk	APN	19	47609010	missense	probably damaging	0.99
IGL00990:Slk	APN	19	47580252	missense	probably damaging	0.98
IGL02283:Slk	APN	19	47641993	missense	probably damaging	1.00
R0140:Slk	UTSW	19	47622335	missense	probably damaging	1.00
R0364:Slk	UTSW	19	47620189	nonsense	probably null
R0944:Slk	UTSW	19	47608993	missense	probably damaging	1.00
R1756:Slk	UTSW	19	47622677	missense	probably damaging	0.97
R1795:Slk	UTSW	19	47620534	missense	possibly damaging	0.72
R1869:Slk	UTSW	19	47625452	missense	probably damaging	1.00
R1980:Slk	UTSW	19	47611989	missense	probably damaging	1.00
R2261:Slk	UTSW	19	47637352	missense	probably damaging	0.99
R2278:Slk	UTSW	19	47619749	missense	probably damaging	0.97
R3746:Slk	UTSW	19	47619809	missense	possibly damaging	0.88
R3748:Slk	UTSW	19	47619809	missense	possibly damaging	0.88
R3749:Slk	UTSW	19	47619809	missense	possibly damaging	0.88
R3750:Slk	UTSW	19	47619809	missense	possibly damaging	0.88
R4024:Slk	UTSW	19	47622370	splice site	probably null
R4471:Slk	UTSW	19	47615423	missense	probably damaging	1.00
R4647:Slk	UTSW	19	47620274	missense	possibly damaging	0.71
R4825:Slk	UTSW	19	47619956	missense	probably benign
R5205:Slk	UTSW	19	47625460	missense	possibly damaging	0.91
R5228:Slk	UTSW	19	47625332	missense	probably damaging	1.00
R5372:Slk	UTSW	19	47625393	missense	probably damaging	1.00
R5665:Slk	UTSW	19	47636457	missense	probably damaging	1.00
R5688:Slk	UTSW	19	47620012	missense	probably benign	0.00
R5859:Slk	UTSW	19	47609042	missense	probably benign	0.37
R6279:Slk	UTSW	19	47642004	missense	probably damaging	1.00
R6368:Slk	UTSW	19	47620183	missense	possibly damaging	0.85
R6431:Slk	UTSW	19	47620888	missense	probably damaging	1.00
R6563:Slk	UTSW	19	47636469	critical splice donor site	probably null
R6705:Slk	UTSW	19	47609059	missense	probably benign	0.01
R6790:Slk	UTSW	19	47635568	missense	probably damaging	0.96
R7495:Slk	UTSW	19	47638978	missense	probably damaging	1.00
R7598:Slk	UTSW	19	47636462	missense	probably damaging	1.00
R7728:Slk	UTSW	19	47620816	missense	probably damaging	1.00
R7850:Slk	UTSW	19	47622357	missense	probably damaging	1.00
R7860:Slk	UTSW	19	47642071	missense	possibly damaging	0.65
R7911:Slk	UTSW	19	47615229	missense
R8000:Slk	UTSW	19	47608905	missense
X0052:Slk	UTSW	19	47620933	missense	probably benign	0.05
Z1176:Slk	UTSW	19	47622276	missense	probably damaging	1.00

Posted On

2013-04-17