Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00488:Slk'

3162

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slk

Ensembl Gene

ENSMUSG00000025060

Gene Name

STE20-like kinase

Synonyms

Etk4, Stk2, 9A2, SLK, mSLK

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00488

Quality Score

Status

Chromosome

Chromosomal Location

47568458-47633685 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 47608148 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 367 (T367I)

Ref Sequence

ENSEMBL: ENSMUSP00000049977 (fasta)

Gene Model

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

AlphaFold

O54988

Predicted Effect

probably benign
Transcript: ENSMUST00000026043
AA Change: T367I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000026043
Gene: ENSMUSG00000025060
AA Change: T367I

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: ENSMUST00000051691
AA Change: T367I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000049977
Gene: ENSMUSG00000025060
AA Change: T367I

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

noncoding transcript
Transcript: ENSMUST00000123816

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130115

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136557

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	T	A	3: 151,248,478 (GRCm39)	S717T	probably damaging	Het
Bcorl1	T	G	X: 47,494,919 (GRCm39)	V1730G	probably damaging	Het
Cchcr1	A	G	17: 35,839,469 (GRCm39)	D585G	possibly damaging	Het
Dnah6	A	T	6: 73,063,190 (GRCm39)	N2637K	possibly damaging	Het
Erg	C	A	16: 95,170,848 (GRCm39)		probably benign	Het
Mak	C	T	13: 41,209,165 (GRCm39)		probably benign	Het
Max	T	C	12: 76,985,404 (GRCm39)	S132G	probably damaging	Het
Nfam1	T	C	15: 82,907,185 (GRCm39)	Y4C	probably benign	Het
Orc5	G	T	5: 22,721,771 (GRCm39)	D360E	probably damaging	Het
Prkdc	T	A	16: 15,593,711 (GRCm39)		probably null	Het
Ptpn18	G	A	1: 34,502,200 (GRCm39)	R72K	probably damaging	Het
R3hcc1l	A	G	19: 42,552,391 (GRCm39)	I463V	probably benign	Het
Rapgef2	T	C	3: 78,999,332 (GRCm39)	E480G	possibly damaging	Het
Rictor	T	A	15: 6,816,071 (GRCm39)	D1114E	probably damaging	Het
Sestd1	A	G	2: 77,042,796 (GRCm39)	S253P	possibly damaging	Het
Tasl	T	A	X: 84,931,985 (GRCm39)	Y184N	possibly damaging	Het
Tcirg1	T	G	19: 3,949,108 (GRCm39)	I394L	possibly damaging	Het
Ubn1	T	C	16: 4,899,778 (GRCm39)	S1097P	probably benign	Het
Ugt2b34	T	A	5: 87,040,818 (GRCm39)	H368L	probably damaging	Het
Wdr20rt	T	C	12: 65,272,744 (GRCm39)	V69A	possibly damaging	Het
Wnt16	T	C	6: 22,291,012 (GRCm39)	S147P	probably damaging	Het

Other mutations in Slk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00515:Slk	APN	19	47,630,535 (GRCm39)	unclassified	probably benign
IGL00755:Slk	APN	19	47,597,449 (GRCm39)	missense	probably damaging	0.99
IGL00990:Slk	APN	19	47,568,691 (GRCm39)	missense	probably damaging	0.98
IGL02283:Slk	APN	19	47,630,432 (GRCm39)	missense	probably damaging	1.00
R0140:Slk	UTSW	19	47,610,774 (GRCm39)	missense	probably damaging	1.00
R0364:Slk	UTSW	19	47,608,628 (GRCm39)	nonsense	probably null
R0944:Slk	UTSW	19	47,597,432 (GRCm39)	missense	probably damaging	1.00
R1756:Slk	UTSW	19	47,611,116 (GRCm39)	missense	probably damaging	0.97
R1795:Slk	UTSW	19	47,608,973 (GRCm39)	missense	possibly damaging	0.72
R1869:Slk	UTSW	19	47,613,891 (GRCm39)	missense	probably damaging	1.00
R1980:Slk	UTSW	19	47,600,428 (GRCm39)	missense	probably damaging	1.00
R2261:Slk	UTSW	19	47,625,791 (GRCm39)	missense	probably damaging	0.99
R2278:Slk	UTSW	19	47,608,188 (GRCm39)	missense	probably damaging	0.97
R3746:Slk	UTSW	19	47,608,248 (GRCm39)	missense	possibly damaging	0.88
R3748:Slk	UTSW	19	47,608,248 (GRCm39)	missense	possibly damaging	0.88
R3749:Slk	UTSW	19	47,608,248 (GRCm39)	missense	possibly damaging	0.88
R3750:Slk	UTSW	19	47,608,248 (GRCm39)	missense	possibly damaging	0.88
R4024:Slk	UTSW	19	47,610,809 (GRCm39)	splice site	probably null
R4471:Slk	UTSW	19	47,603,862 (GRCm39)	missense	probably damaging	1.00
R4647:Slk	UTSW	19	47,608,713 (GRCm39)	missense	possibly damaging	0.71
R4825:Slk	UTSW	19	47,608,395 (GRCm39)	missense	probably benign
R5205:Slk	UTSW	19	47,613,899 (GRCm39)	missense	possibly damaging	0.91
R5228:Slk	UTSW	19	47,613,771 (GRCm39)	missense	probably damaging	1.00
R5372:Slk	UTSW	19	47,613,832 (GRCm39)	missense	probably damaging	1.00
R5665:Slk	UTSW	19	47,624,896 (GRCm39)	missense	probably damaging	1.00
R5688:Slk	UTSW	19	47,608,451 (GRCm39)	missense	probably benign	0.00
R5859:Slk	UTSW	19	47,597,481 (GRCm39)	missense	probably benign	0.37
R6279:Slk	UTSW	19	47,630,443 (GRCm39)	missense	probably damaging	1.00
R6368:Slk	UTSW	19	47,608,622 (GRCm39)	missense	possibly damaging	0.85
R6431:Slk	UTSW	19	47,609,327 (GRCm39)	missense	probably damaging	1.00
R6563:Slk	UTSW	19	47,624,908 (GRCm39)	critical splice donor site	probably null
R6705:Slk	UTSW	19	47,597,498 (GRCm39)	missense	probably benign	0.01
R6790:Slk	UTSW	19	47,624,007 (GRCm39)	missense	probably damaging	0.96
R7495:Slk	UTSW	19	47,627,417 (GRCm39)	missense	probably damaging	1.00
R7598:Slk	UTSW	19	47,624,901 (GRCm39)	missense	probably damaging	1.00
R7728:Slk	UTSW	19	47,609,255 (GRCm39)	missense	probably damaging	1.00
R7850:Slk	UTSW	19	47,610,796 (GRCm39)	missense	probably damaging	1.00
R7860:Slk	UTSW	19	47,630,510 (GRCm39)	missense	possibly damaging	0.65
R7911:Slk	UTSW	19	47,603,668 (GRCm39)	missense
R8000:Slk	UTSW	19	47,597,344 (GRCm39)	missense
R8847:Slk	UTSW	19	47,607,632 (GRCm39)	missense
R8944:Slk	UTSW	19	47,600,057 (GRCm39)	missense	probably damaging	0.99
R8962:Slk	UTSW	19	47,610,748 (GRCm39)	missense	probably damaging	1.00
R8988:Slk	UTSW	19	47,608,712 (GRCm39)	missense	probably benign	0.00
R9028:Slk	UTSW	19	47,608,512 (GRCm39)	missense	probably benign
R9093:Slk	UTSW	19	47,603,883 (GRCm39)	missense
R9747:Slk	UTSW	19	47,608,346 (GRCm39)	missense	possibly damaging	0.71
X0052:Slk	UTSW	19	47,609,372 (GRCm39)	missense	probably benign	0.05
Z1176:Slk	UTSW	19	47,610,715 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-04-20