Mutagenetix > Incidental Mutation

Incidental Mutation 'R9093:Slk'

691183

Institutional Source

Beutler Lab

Gene Symbol

Slk

Ensembl Gene

ENSMUSG00000025060

Gene Name

STE20-like kinase

Synonyms

Etk4, Stk2, 9A2, SLK, mSLK

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9093 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47568458-47633685 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 47603883 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 209 (D209G)

Ref Sequence

ENSEMBL: ENSMUSP00000049977 (fasta)

Gene Model

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

AlphaFold

O54988

Predicted Effect

probably damaging
Transcript: ENSMUST00000026043
AA Change: D209G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000026043
Gene: ENSMUSG00000025060
AA Change: D209G

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

SMART Domains

Protein: ENSMUSP00000049977
Gene: ENSMUSG00000025060
AA Change: D209G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

97% (76/78)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,069,513 (GRCm39)	V1294E	probably damaging	Het
Ada	C	T	2: 163,577,308 (GRCm39)	G60D	probably benign	Het
Aff3	G	T	1: 38,291,738 (GRCm39)	R390S	possibly damaging	Het
Aldh3b3	T	A	19: 4,013,959 (GRCm39)	N53K	possibly damaging	Het
Ankrd36	G	A	11: 5,589,132 (GRCm39)	M410I	probably benign	Het
Ap2b1	T	A	11: 83,215,395 (GRCm39)	I113N	probably damaging	Het
Art5	G	T	7: 101,747,396 (GRCm39)	H128N	probably benign	Het
Calhm2	A	C	19: 47,121,599 (GRCm39)	L190R	probably benign	Het
Catsperg1	G	C	7: 28,884,152 (GRCm39)	T987R	probably damaging	Het
Cdh18	A	T	15: 23,474,064 (GRCm39)	I645F	probably damaging	Het
Cenpe	C	T	3: 134,945,641 (GRCm39)	Q1052*	probably null	Het
Cfap221	G	T	1: 119,863,856 (GRCm39)	Q563K	probably damaging	Het
Cfap54	T	A	10: 92,651,770 (GRCm39)	E3093D	probably benign	Het
Chd4	A	G	6: 125,090,974 (GRCm39)	M1186V	probably benign	Het
Chst15	A	T	7: 131,870,646 (GRCm39)		probably null	Het
Clca3a2	T	C	3: 144,781,481 (GRCm39)	T688A	probably benign	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 105,036,334 (GRCm39)		probably null	Het
Cul1	T	A	6: 47,495,173 (GRCm39)	N518K	probably damaging	Het
E230025N22Rik	G	T	18: 36,821,952 (GRCm39)	L247I	possibly damaging	Het
Eno4	A	T	19: 58,941,600 (GRCm39)	K174*	probably null	Het
Enpp3	G	A	10: 24,671,702 (GRCm39)	P431S	probably benign	Het
Fbh1	T	A	2: 11,764,801 (GRCm39)	Q444H	probably damaging	Het
Fbxo31	G	A	8: 122,281,136 (GRCm39)	R337C	probably damaging	Het
Fbxw14	A	G	9: 109,105,250 (GRCm39)	I305T	probably benign	Het
Fhip1b	T	A	7: 105,034,599 (GRCm39)	T408S	probably damaging	Het
Gas2	T	A	7: 51,602,969 (GRCm39)	C216S	probably damaging	Het
Gjb3	GCCAGATGCGCCCA	GCCAGATGCGCCCAGATGCGCCCA	4: 127,220,458 (GRCm39)		probably null	Het
Glp2r	T	A	11: 67,621,459 (GRCm39)	R344*	probably null	Het
Gm17430	A	G	18: 9,726,640 (GRCm39)	Y11H	probably damaging	Het
Gyg1	T	A	3: 20,176,901 (GRCm39)	D363V	probably damaging	Het
H2bc18	G	A	3: 96,177,290 (GRCm39)	A75T	probably benign	Het
Hectd4	A	G	5: 121,411,677 (GRCm39)	N451S	probably benign	Het
Hif1a	T	C	12: 73,979,111 (GRCm39)	Y212H	probably benign	Het
Hoxd11	A	T	2: 74,514,482 (GRCm39)	*337C	probably null	Het
Kif24	A	G	4: 41,428,691 (GRCm39)	F90L	probably benign	Het
Klhl20	A	T	1: 160,923,231 (GRCm39)	C497*	probably null	Het
Loxl1	C	A	9: 58,219,224 (GRCm39)	A316S	probably benign	Het
Lrig3	C	T	10: 125,845,950 (GRCm39)	P793L	possibly damaging	Het
Macc1	A	G	12: 119,410,561 (GRCm39)	D443G	probably benign	Het
Maip1	A	T	1: 57,446,311 (GRCm39)	Y127F	possibly damaging	Het
Mrm2	A	T	5: 140,314,427 (GRCm39)	F136Y	probably benign	Het
Nasp	G	T	4: 116,468,017 (GRCm39)	L323I	probably benign	Het
Ndufb8	A	T	19: 44,538,823 (GRCm39)	L166Q	probably damaging	Het
Nid2	C	T	14: 19,858,009 (GRCm39)	T1274I		Het
Nup210	T	A	6: 91,066,872 (GRCm39)	T160S	probably benign	Het
Nutm2	A	G	13: 50,628,964 (GRCm39)	K676R	probably damaging	Het
Odad1	G	A	7: 45,596,965 (GRCm39)	V431I	possibly damaging	Het
Or10a3n	T	C	7: 108,493,609 (GRCm39)	R7G	probably benign	Het
Or2a20	A	G	6: 43,194,500 (GRCm39)	T218A	probably benign	Het
Or56b1b	A	T	7: 108,164,454 (GRCm39)	C183S	probably damaging	Het
Or5ak20	T	A	2: 85,183,852 (GRCm39)	R139S	probably benign	Het
Or7g33	A	G	9: 19,448,914 (GRCm39)	V104A	probably benign	Het
Or8b9	A	T	9: 37,766,294 (GRCm39)	Y60F	probably damaging	Het
Or9m1	A	T	2: 87,733,480 (GRCm39)	I180N	probably benign	Het
Pcdhga12	C	A	18: 37,899,931 (GRCm39)	N254K	possibly damaging	Het
Pm20d1	G	T	1: 131,743,753 (GRCm39)	V473F	probably benign	Het
Pou2af2	G	A	9: 51,201,516 (GRCm39)	P180L	possibly damaging	Het
Rab11fip1	A	G	8: 27,633,355 (GRCm39)	V596A	probably damaging	Het
Rapgef6	C	T	11: 54,487,912 (GRCm39)	Q13*	probably null	Het
Rasef	T	C	4: 73,698,583 (GRCm39)	D26G	probably benign	Het
Rbfox2	A	T	15: 77,190,658 (GRCm39)	V29E	probably benign	Het
Recql4	G	A	15: 76,589,685 (GRCm39)	P787S	unknown	Het
Rnf19a	A	C	15: 36,253,450 (GRCm39)		probably benign	Het
Rnf214	A	G	9: 45,811,054 (GRCm39)	I203T	probably damaging	Het
Rnmt	A	C	18: 68,451,146 (GRCm39)	E396D	probably benign	Het
Scn4a	G	A	11: 106,210,638 (GRCm39)	S1793L	probably benign	Het
Sdcbp	G	T	4: 6,386,709 (GRCm39)		probably null	Het
Slfn3	A	G	11: 83,103,948 (GRCm39)	N273S	probably damaging	Het
Tent5b	A	G	4: 133,214,352 (GRCm39)	T408A	probably damaging	Het
Tmem135	T	A	7: 88,797,204 (GRCm39)	M351L	probably benign	Het
Tmem64	A	G	4: 15,266,391 (GRCm39)	H147R	probably benign	Het
Tnfsf4	T	C	1: 161,244,629 (GRCm39)	L106P	probably damaging	Het
Tonsl	A	T	15: 76,515,270 (GRCm39)	C1039S	probably damaging	Het
Ube4a	A	T	9: 44,864,462 (GRCm39)	F44I	possibly damaging	Het
Vmn2r40	A	G	7: 8,911,172 (GRCm39)	L707P		Het
Vmn2r87	G	A	10: 130,308,165 (GRCm39)	T691I	probably benign	Het
Wbp11	A	T	6: 136,803,044 (GRCm39)	S7T	possibly damaging	Het
Zfp386	C	A	12: 116,023,878 (GRCm39)	S532*	probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- GAGGGATTCATTTATTGGCACACC -3'
(R):5'- GACAGTCTTTGCGCCACATC -3'

Sequencing Primer
(F):5'- GGCACACCATATTGGTAG -3'
(R):5'- ACTGCTCTTCTGAAGGTCCAGAG -3'

Posted On

2021-12-30