Mutagenetix > Incidental Mutations

Incidental Mutation 'R5665:Slk'

444388

Institutional Source

Beutler Lab

Gene Symbol

Slk

Ensembl Gene

ENSMUSG00000025060

Gene Name

STE20-like kinase

Synonyms

9A2, Stk2, mSLK, Etk4, SLK

MMRRC Submission

043308-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5665 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

47579678-47645246 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 47636457 bp

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]

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: 30,426,349	V173M	probably damaging	Het
Acaca	G	T	11: 84,245,294	E492*	probably null	Het
Acp7	T	A	7: 28,616,543	K206M	probably benign	Het
Agbl1	T	A	7: 76,589,503	F584I	probably damaging	Het
Ahi1	A	G	10: 21,055,047	I929V	possibly damaging	Het
Ank3	G	A	10: 70,002,565	R1566K	possibly damaging	Het
Arhgef40	A	G	14: 52,000,900	I1279V	possibly damaging	Het
Arl14	A	C	3: 69,223,038	T173P	probably damaging	Het
Asap1	A	G	15: 64,312,453	S44P	probably damaging	Het
Btbd7	C	A	12: 102,785,197	A1103S	probably benign	Het
Capn10	T	A	1: 92,937,931		probably null	Het
Capn7	T	C	14: 31,369,802	F719L	probably benign	Het
Casp7	G	A	19: 56,440,982	D267N	probably benign	Het
Ccdc13	C	A	9: 121,814,290	K348N	probably damaging	Het
Chchd1	T	C	14: 20,703,110	F13L	probably benign	Het
Clcn6	T	A	4: 148,014,561	M442L	possibly damaging	Het
Col6a3	T	C	1: 90,827,880	E229G	probably benign	Het
Cyb5r3	A	G	15: 83,154,554	F278S	probably damaging	Het
Dhx16	C	T	17: 35,891,086	Q1002*	probably null	Het
Dppa4	T	C	16: 48,291,015	L121P	probably benign	Het
Dpyd	A	G	3: 118,917,092	E383G	probably damaging	Het
Eif4g3	A	G	4: 138,126,589	T489A	probably benign	Het
Elovl1	G	T	4: 118,431,635	V174L	probably damaging	Het
Elp3	T	C	14: 65,551,402	K392E	possibly damaging	Het
Fancd2os	C	A	6: 113,598,024	W7L	probably damaging	Het
Fchsd2	A	G	7: 101,110,784	T23A	possibly damaging	Het
Gabrp	C	G	11: 33,554,308	A336P	possibly damaging	Het
Gcm2	T	A	13: 41,109,911	Y15F	possibly damaging	Het
Gpr132	G	A	12: 112,852,796	R137C	probably damaging	Het
Herc1	A	G	9: 66,465,435	E3091G	probably damaging	Het
Homer1	A	T	13: 93,356,102	M184L	probably benign	Het
Izumo1r	T	C	9: 14,900,849	E117G	probably damaging	Het
Kcnt1	C	T	2: 25,901,909	Q590*	probably null	Het
Lama1	G	T	17: 67,770,987	C1139F	probably damaging	Het
Med29	C	T	7: 28,386,814	A190T	probably benign	Het
Mgea5	A	C	19: 45,776,997	S124A	probably benign	Het
Muc4	T	C	16: 32,750,782	V220A	probably benign	Het
Mxra8	G	T	4: 155,842,921	V388L	probably benign	Het
Myo5a	T	C	9: 75,144,181		probably null	Het
Myrip	A	G	9: 120,461,433	Y706C	probably damaging	Het
Nphp4	T	C	4: 152,506,485	V313A	probably benign	Het
Olfm2	T	G	9: 20,668,544		probably null	Het
Olfr1113	T	A	2: 87,213,728	S279T	probably benign	Het
Olfr248	T	C	1: 174,391,375	F102S	probably damaging	Het
Pcdh15	C	T	10: 74,626,788	P1398L	probably damaging	Het
Pdpr	A	G	8: 111,114,811	E225G	possibly damaging	Het
Pigs	C	A	11: 78,328,769		probably null	Het
Pkhd1	T	A	1: 20,588,531	T159S	probably damaging	Het
Plk4	A	G	3: 40,813,586	T87A	possibly damaging	Het
Plxna4	T	C	6: 32,215,722	Y768C	probably damaging	Het
Prl3d3	T	A	13: 27,159,081		probably null	Het
Pygb	T	C	2: 150,820,888		probably null	Het
Rnf114	T	C	2: 167,510,934	I118T	possibly damaging	Het
Sbno2	A	G	10: 80,058,453	L1099P	probably benign	Het
Scaper	T	C	9: 55,807,632	K791E	probably damaging	Het
Serping1	T	C	2: 84,771,545	T194A	probably damaging	Het
Slc12a9	A	G	5: 137,321,403	S617P	possibly damaging	Het
Sntb1	T	A	15: 55,792,139	E227V	probably benign	Het
Sostdc1	C	A	12: 36,314,408	P39T	probably benign	Het
Spred1	C	T	2: 117,153,005	R16*	probably null	Het
Srpk2	A	G	5: 23,518,477	I547T	probably damaging	Het
Stt3a	A	G	9: 36,759,314	Y54H	probably damaging	Het
Stt3b	A	T	9: 115,266,147	L272H	probably damaging	Het
Syne2	T	A	12: 76,108,217		probably null	Het
Uso1	A	T	5: 92,198,337	E793V	possibly damaging	Het
Usp15	A	T	10: 123,130,987	L476*	probably null	Het
Vmn1r189	T	C	13: 22,102,166	Y167C	probably damaging	Het
Vmn2r24	A	G	6: 123,786,979	T272A	possibly damaging	Het
Vps13a	A	T	19: 16,668,690	H1994Q	probably damaging	Het
Zbtb10	T	C	3: 9,265,192	S537P	probably damaging	Het
Zbtb12	T	C	17: 34,895,883	S215P	possibly damaging	Het
Zfp346	T	C	13: 55,113,102	M81T	probably benign	Het
Zfp800	T	C	6: 28,244,513	D151G	probably null	Het

Other mutations in Slk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00488:Slk	APN	19	47619709	missense	probably benign	0.00
IGL00515:Slk	APN	19	47642096	unclassified	probably benign
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
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
R8847:Slk	UTSW	19	47619193	missense
X0052:Slk	UTSW	19	47620933	missense	probably benign	0.05
Z1176:Slk	UTSW	19	47622276	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