Mutagenetix > Incidental Mutation

Incidental Mutation 'R5665:Slk'

444388

Institutional Source

Beutler Lab

Gene Symbol

Slk

Ensembl Gene

ENSMUSG00000025060

Gene Name

STE20-like kinase

Synonyms

Etk4, Stk2, 9A2, SLK, mSLK

MMRRC Submission

043308-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5665 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

47568458-47633685 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 47624896 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 1039 (R1039H)

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: R1008H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026043
Gene: ENSMUSG00000025060
AA Change: R1008H

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 damaging
Transcript: ENSMUST00000051691
AA Change: R1039H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000049977
Gene: ENSMUSG00000025060
AA Change: R1039H

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: ENSMUST00000147841

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Acaca	G	T	11: 84,136,120 (GRCm39)	E492*	probably null	Het
Acp7	T	A	7: 28,315,968 (GRCm39)	K206M	probably benign	Het
Agbl1	T	A	7: 76,239,251 (GRCm39)	F584I	probably damaging	Het
Ahi1	A	G	10: 20,930,946 (GRCm39)	I929V	possibly damaging	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Arhgef40	A	G	14: 52,238,357 (GRCm39)	I1279V	possibly damaging	Het
Arl14	A	C	3: 69,130,371 (GRCm39)	T173P	probably damaging	Het
Asap1	A	G	15: 64,184,302 (GRCm39)	S44P	probably damaging	Het
Btbd7	C	A	12: 102,751,456 (GRCm39)	A1103S	probably benign	Het
Capn10	T	A	1: 92,865,653 (GRCm39)		probably null	Het
Capn7	T	C	14: 31,091,759 (GRCm39)	F719L	probably benign	Het
Casp7	G	A	19: 56,429,414 (GRCm39)	D267N	probably benign	Het
Ccdc13	C	A	9: 121,643,356 (GRCm39)	K348N	probably damaging	Het
Chchd1	T	C	14: 20,753,178 (GRCm39)	F13L	probably benign	Het
Clcn6	T	A	4: 148,099,018 (GRCm39)	M442L	possibly damaging	Het
Col6a3	T	C	1: 90,755,602 (GRCm39)	E229G	probably benign	Het
Cyb5r3	A	G	15: 83,038,755 (GRCm39)	F278S	probably damaging	Het
Dhx16	C	T	17: 36,201,978 (GRCm39)	Q1002*	probably null	Het
Dppa4	T	C	16: 48,111,378 (GRCm39)	L121P	probably benign	Het
Dpyd	A	G	3: 118,710,741 (GRCm39)	E383G	probably damaging	Het
Eif4g3	A	G	4: 137,853,900 (GRCm39)	T489A	probably benign	Het
Elovl1	G	T	4: 118,288,832 (GRCm39)	V174L	probably damaging	Het
Elp3	T	C	14: 65,788,851 (GRCm39)	K392E	possibly damaging	Het
Fancd2os	C	A	6: 113,574,985 (GRCm39)	W7L	probably damaging	Het
Fchsd2	A	G	7: 100,759,991 (GRCm39)	T23A	possibly damaging	Het
Gabrp	C	G	11: 33,504,308 (GRCm39)	A336P	possibly damaging	Het
Gcm2	T	A	13: 41,263,387 (GRCm39)	Y15F	possibly damaging	Het
Gpr132	G	A	12: 112,816,416 (GRCm39)	R137C	probably damaging	Het
Herc1	A	G	9: 66,372,717 (GRCm39)	E3091G	probably damaging	Het
Homer1	A	T	13: 93,492,610 (GRCm39)	M184L	probably benign	Het
Izumo1r	T	C	9: 14,812,145 (GRCm39)	E117G	probably damaging	Het
Kcnt1	C	T	2: 25,791,921 (GRCm39)	Q590*	probably null	Het
Lama1	G	T	17: 68,077,982 (GRCm39)	C1139F	probably damaging	Het
Med29	C	T	7: 28,086,239 (GRCm39)	A190T	probably benign	Het
Muc4	T	C	16: 32,569,600 (GRCm39)	V220A	probably benign	Het
Mxra8	G	T	4: 155,927,378 (GRCm39)	V388L	probably benign	Het
Myo5a	T	C	9: 75,051,463 (GRCm39)		probably null	Het
Myrip	A	G	9: 120,290,499 (GRCm39)	Y706C	probably damaging	Het
Nphp4	T	C	4: 152,590,942 (GRCm39)	V313A	probably benign	Het
Oga	A	C	19: 45,765,436 (GRCm39)	S124A	probably benign	Het
Olfm2	T	G	9: 20,579,840 (GRCm39)		probably null	Het
Or10ag52	T	A	2: 87,044,072 (GRCm39)	S279T	probably benign	Het
Or10x4	T	C	1: 174,218,941 (GRCm39)	F102S	probably damaging	Het
Pcdh15	C	T	10: 74,462,620 (GRCm39)	P1398L	probably damaging	Het
Pdpr	A	G	8: 111,841,443 (GRCm39)	E225G	possibly damaging	Het
Pigs	C	A	11: 78,219,595 (GRCm39)		probably null	Het
Pkhd1	T	A	1: 20,658,755 (GRCm39)	T159S	probably damaging	Het
Plk4	A	G	3: 40,768,021 (GRCm39)	T87A	possibly damaging	Het
Plxna4	T	C	6: 32,192,657 (GRCm39)	Y768C	probably damaging	Het
Prl3d3	T	A	13: 27,343,064 (GRCm39)		probably null	Het
Pygb	T	C	2: 150,662,808 (GRCm39)		probably null	Het
Rnf114	T	C	2: 167,352,854 (GRCm39)	I118T	possibly damaging	Het
Sbno2	A	G	10: 79,894,287 (GRCm39)	L1099P	probably benign	Het
Scaper	T	C	9: 55,714,916 (GRCm39)	K791E	probably damaging	Het
Serping1	T	C	2: 84,601,889 (GRCm39)	T194A	probably damaging	Het
Slc12a9	A	G	5: 137,319,665 (GRCm39)	S617P	possibly damaging	Het
Sntb1	T	A	15: 55,655,535 (GRCm39)	E227V	probably benign	Het
Sostdc1	C	A	12: 36,364,407 (GRCm39)	P39T	probably benign	Het
Spred1	C	T	2: 116,983,486 (GRCm39)	R16*	probably null	Het
Srpk2	A	G	5: 23,723,475 (GRCm39)	I547T	probably damaging	Het
Stt3a	A	G	9: 36,670,610 (GRCm39)	Y54H	probably damaging	Het
Stt3b	A	T	9: 115,095,215 (GRCm39)	L272H	probably damaging	Het
Syne2	T	A	12: 76,154,991 (GRCm39)		probably null	Het
Uso1	A	T	5: 92,346,196 (GRCm39)	E793V	possibly damaging	Het
Usp15	A	T	10: 122,966,892 (GRCm39)	L476*	probably null	Het
Vmn1r189	T	C	13: 22,286,336 (GRCm39)	Y167C	probably damaging	Het
Vmn2r24	A	G	6: 123,763,938 (GRCm39)	T272A	possibly damaging	Het
Vps13a	A	T	19: 16,646,054 (GRCm39)	H1994Q	probably damaging	Het
Zbtb10	T	C	3: 9,330,252 (GRCm39)	S537P	probably damaging	Het
Zbtb12	T	C	17: 35,114,859 (GRCm39)	S215P	possibly damaging	Het
Zfp346	T	C	13: 55,260,915 (GRCm39)	M81T	probably benign	Het
Zfp800	T	C	6: 28,244,512 (GRCm39)	D151G	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
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

Predicted Primers

PCR Primer
(F):5'- GGTAGGACAGTCTTAGTTTAGGAC -3'
(R):5'- TCACAACTGTAATCAGGGAGG -3'

Sequencing Primer
(F):5'- TAAAAATGAAGAGCGTTGGACATTAG -3'
(R):5'- CTGTAATCAGGGAGGAAGATAGGC -3'

Posted On

2016-11-09