Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02283:Slk'

289909

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 #

IGL02283

Quality Score

Status

Chromosome

Chromosomal Location

47568458-47633685 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 47630432 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 1170 (F1170Y)

Ref Sequence

ENSEMBL: ENSMUSP00000026043 (fasta)

Gene Model

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

AlphaFold

O54988

Predicted Effect

probably damaging
Transcript: ENSMUST00000026043
AA Change: F1170Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026043
Gene: ENSMUSG00000025060
AA Change: F1170Y

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 damaging
Transcript: ENSMUST00000051691
AA Change: F1201Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000049977
Gene: ENSMUSG00000025060
AA Change: F1201Y

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1l2	T	C	10: 83,331,759 (GRCm39)	Y682C	probably benign	Het
Ank1	G	A	8: 23,609,450 (GRCm39)		probably null	Het
Arhgap1	A	G	2: 91,501,121 (GRCm39)	N399S	probably damaging	Het
Atp8a2	A	T	14: 60,254,248 (GRCm39)	I511N	possibly damaging	Het
Birc6	T	A	17: 74,906,935 (GRCm39)	C1428S	probably benign	Het
Col18a1	T	C	10: 76,948,943 (GRCm39)	T190A	possibly damaging	Het
Cpd	A	T	11: 76,731,251 (GRCm39)	D318E	probably benign	Het
Dync2h1	A	T	9: 7,125,912 (GRCm39)	V1898E	probably damaging	Het
Gon4l	T	C	3: 88,802,671 (GRCm39)	M1095T	probably damaging	Het
Gypa	G	A	8: 81,220,721 (GRCm39)		probably benign	Het
Irf9	G	A	14: 55,845,196 (GRCm39)	R352H	probably damaging	Het
Macf1	T	C	4: 123,365,168 (GRCm39)	T1633A	probably benign	Het
Mars2	T	C	1: 55,277,933 (GRCm39)	V512A	probably damaging	Het
Myo9a	A	G	9: 59,778,956 (GRCm39)	N1571D	probably benign	Het
Myrfl	T	C	10: 116,613,265 (GRCm39)	D846G	probably benign	Het
Or2ak6	A	T	11: 58,593,102 (GRCm39)	T192S	probably damaging	Het
Or2y1b	A	G	11: 49,209,162 (GRCm39)	D263G	probably benign	Het
Or4d11	A	G	19: 12,013,219 (GRCm39)	S296P	possibly damaging	Het
Or7a41	T	C	10: 78,871,379 (GRCm39)	S250P	probably damaging	Het
Rprd2	A	T	3: 95,672,815 (GRCm39)	S863T	probably damaging	Het
Sdf4	T	A	4: 156,093,293 (GRCm39)	N208K	probably benign	Het
Sftpd	A	T	14: 40,894,423 (GRCm39)	V332D	probably benign	Het
Sh2b3	T	C	5: 121,956,718 (GRCm39)	D321G	probably benign	Het
Slc45a2	T	A	15: 11,001,268 (GRCm39)	N122K	probably damaging	Het
Spata7	A	C	12: 98,624,517 (GRCm39)	T140P	probably damaging	Het
Vmn2r117	A	G	17: 23,694,356 (GRCm39)	L497S	probably damaging	Het

Other mutations in Slk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00488:Slk	APN	19	47,608,148 (GRCm39)	missense	probably benign	0.00
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
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

2015-04-16