Mutagenetix > Incidental Mutations

Incidental Mutation 'R0944:Slk'

82037

Institutional Source

Beutler Lab

Gene Symbol

Slk

Ensembl Gene

ENSMUSG00000025060

Gene Name

STE20-like kinase

Synonyms

9A2, Stk2, mSLK, Etk4, SLK

MMRRC Submission

039083-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0944 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47579678-47645246 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 47608993 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 80 (I80T)

Ref Sequence

ENSEMBL: ENSMUSP00000049977 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000026043
AA Change: I80T

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

SMART Domains

Protein: ENSMUSP00000026043
Gene: ENSMUSG00000025060
AA Change: I80T

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: I80T

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

SMART Domains

Protein: ENSMUSP00000049977
Gene: ENSMUSG00000025060
AA Change: I80T

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: ENSMUST00000136557

Meta Mutation Damage Score

0.8318

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.3%
20x: 94.3%

Validation Efficiency

100% (51/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110018I06Rik	G	A	12: 107,489,009	R118K	unknown	Het
Abcc6	T	A	7: 46,015,505	I301F	possibly damaging	Het
Akap9	C	A	5: 4,064,742		probably null	Het
Alg6	A	G	4: 99,762,060	I506V	probably benign	Het
B3gat1	C	T	9: 26,756,941	R276C	probably damaging	Het
Camk1	A	G	6: 113,338,391	Y105H	probably damaging	Het
Ccdc81	T	C	7: 89,866,569	N634S	probably damaging	Het
Clcn1	C	A	6: 42,313,141	Q837K	probably benign	Het
Clec16a	A	G	16: 10,688,646		probably benign	Het
Col22a1	T	C	15: 71,881,662	I130V	probably benign	Het
Coro2b	T	C	9: 62,427,981	S308G	probably benign	Het
Cpxm1	A	G	2: 130,397,503	W2R	probably damaging	Het
Csmd3	T	C	15: 47,611,831	N3364S	probably damaging	Het
Dgkq	A	G	5: 108,656,465	V131A	probably damaging	Het
Dnaic1	A	G	4: 41,629,997	S469G	probably benign	Het
Eml4	G	A	17: 83,478,060	E885K	probably benign	Het
Etfa	A	T	9: 55,488,838	I148N	probably damaging	Het
Gm11639	T	G	11: 104,710,730		probably null	Het
Gpbar1	A	G	1: 74,279,522	D308G	probably benign	Het
Gprin3	T	C	6: 59,353,915	E469G	possibly damaging	Het
Igkv1-115	T	C	6: 68,161,683	V90A	probably damaging	Het
Ints2	A	G	11: 86,244,463	V375A	possibly damaging	Het
Mindy3	T	C	2: 12,396,182	M242V	possibly damaging	Het
Olfr1094	A	C	2: 86,828,937	I62L	probably benign	Het
Olfr279	A	G	15: 98,497,684	I71V	probably benign	Het
Olfr353	T	C	2: 36,890,686	H54R	probably damaging	Het
P3h1	G	A	4: 119,238,759	E355K	probably benign	Het
Paxbp1	T	C	16: 91,023,427	T703A	probably benign	Het
Pcdh15	A	T	10: 74,210,470	Y193F	probably damaging	Het
Pdxdc1	A	G	16: 13,838,369	V613A	probably damaging	Het
Plekha5	T	C	6: 140,570,196		probably benign	Het
Pmel	A	T	10: 128,715,257	Q123L	possibly damaging	Het
Prl6a1	T	C	13: 27,318,166		probably benign	Het
Rcan1	T	C	16: 92,393,491	T187A	probably damaging	Het
Rp1l1	A	G	14: 64,032,232	S1756G	probably benign	Het
Runx2	A	T	17: 44,608,236	M405K	probably damaging	Het
Serinc5	T	C	13: 92,661,105	Y39H	probably damaging	Het
Sgsm1	G	A	5: 113,265,874	T676I	probably benign	Het
Slc6a15	G	C	10: 103,409,796	V547L	probably benign	Het
Spice1	A	G	16: 44,384,761	N810S	probably benign	Het
Spred2	A	G	11: 20,001,104		probably benign	Het
Tbc1d4	C	G	14: 101,479,220		probably benign	Het
Tdrd7	G	A	4: 46,029,762	V1032M	probably benign	Het
Tlr11	A	G	14: 50,362,336	N593S	probably benign	Het
Trpa1	T	C	1: 14,912,361		probably null	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Usp25	T	C	16: 77,081,447		probably benign	Het
Vmn2r97	T	A	17: 18,947,403	S640T	probably benign	Het
Zc3h6	A	G	2: 129,006,816	Y321C	probably damaging	Het
Zfp329	T	A	7: 12,811,468	N43I	probably benign	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
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
R5665:Slk	UTSW	19	47636457	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
X0052:Slk	UTSW	19	47620933	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TGTAGGCTCATTGGCAAATGTCCC -3'
(R):5'- TGACTCTCACTGGCAGATCAACCC -3'

Sequencing Primer
(F):5'- aaatgtcccagcctggtg -3'
(R):5'- TGGCAGATCAACCCTCAATC -3'

Posted On

2013-11-08