Mutagenetix > Incidental Mutation

Incidental Mutation 'R1457:Sik3'

158582

Institutional Source

Beutler Lab

Gene Symbol

Sik3

Ensembl Gene

ENSMUSG00000034135

Gene Name

SIK family kinase 3

Synonyms

MMRRC Submission

039512-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1457 (G1)

Quality Score

191

Status

Not validated

Chromosome

Chromosomal Location

46012820-46224194 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 46221148 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 1346 (T1346M)

Ref Sequence

ENSEMBL: ENSMUSP00000121032 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120463] [ENSMUST00000126865]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000120247
AA Change: T1190M

SMART Domains

Protein: ENSMUSP00000112859
Gene: ENSMUSG00000034135
AA Change: T1190M

Domain	Start	End	E-Value	Type
S_TKc	19	270	5.4e-102	SMART
internal_repeat_1	349	392	8.97e-6	PROSPERO
low complexity region	436	445	N/A	INTRINSIC
internal_repeat_1	492	536	8.97e-6	PROSPERO
low complexity region	602	613	N/A	INTRINSIC
low complexity region	628	648	N/A	INTRINSIC
low complexity region	682	693	N/A	INTRINSIC
low complexity region	785	798	N/A	INTRINSIC
low complexity region	891	906	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000120463
AA Change: T1296M

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

SMART Domains

Protein: ENSMUSP00000112749
Gene: ENSMUSG00000034135
AA Change: T1296M

Domain	Start	End	E-Value	Type
low complexity region	1	53	N/A	INTRINSIC
S_TKc	64	315	5.4e-102	SMART
low complexity region	529	538	N/A	INTRINSIC
low complexity region	647	658	N/A	INTRINSIC
low complexity region	673	693	N/A	INTRINSIC
low complexity region	727	738	N/A	INTRINSIC
low complexity region	830	843	N/A	INTRINSIC
low complexity region	894	907	N/A	INTRINSIC
low complexity region	996	1011	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000126865
AA Change: T1346M

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

SMART Domains

Protein: ENSMUSP00000121032
Gene: ENSMUSG00000034135
AA Change: T1346M

Domain	Start	End	E-Value	Type
low complexity region	2	55	N/A	INTRINSIC
S_TKc	66	317	5.4e-102	SMART
internal_repeat_1	444	487	1.55e-6	PROSPERO
low complexity region	531	540	N/A	INTRINSIC
internal_repeat_1	587	631	1.55e-6	PROSPERO
low complexity region	697	708	N/A	INTRINSIC
low complexity region	723	743	N/A	INTRINSIC
low complexity region	777	788	N/A	INTRINSIC
low complexity region	880	893	N/A	INTRINSIC
low complexity region	944	957	N/A	INTRINSIC
low complexity region	1046	1061	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000138338

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153152

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.7%
20x: 87.3%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired chondrocyte hypertrophy during development, neonatal lethality and reduced size. Mice homozygous for a gain of function ENU mutation exhibit decreased total wake time, owing to an increase in inherent sleep need. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	A	T	1: 37,626,012 (GRCm38)	Y268*	probably null	Het
Abca14	A	T	7: 120,289,460 (GRCm38)	I1210F	probably benign	Het
Ankrd17	T	C	5: 90,285,846 (GRCm38)	H688R	possibly damaging	Het
Arhgap24	T	A	5: 102,664,106 (GRCm38)	N66K	probably damaging	Het
Atp1a1	C	T	3: 101,590,466 (GRCm38)	G335D	probably damaging	Het
Cacna1g	C	T	11: 94,459,555 (GRCm38)	R488H	possibly damaging	Het
Cacna1h	A	T	17: 25,397,620 (GRCm38)	V149E	probably damaging	Het
Cd22	G	T	7: 30,873,170 (GRCm38)	P338Q	probably benign	Het
Cntln	G	T	4: 85,096,839 (GRCm38)	M1122I	probably benign	Het
Cntrl	A	G	2: 35,122,756 (GRCm38)	N302S	probably benign	Het
Cog8	T	C	8: 107,052,896 (GRCm38)	R250G	probably damaging	Het
Creld2	T	C	15: 88,823,753 (GRCm38)	C232R	probably damaging	Het
Cyp2b23	G	A	7: 26,673,149 (GRCm38)	P347L	probably damaging	Het
Dnah5	T	C	15: 28,403,542 (GRCm38)		probably null	Het
Eml6	C	T	11: 30,024,459 (GRCm38)	V40I	probably damaging	Het
Epb42	C	T	2: 121,029,967 (GRCm38)		probably null	Het
Fcrla	A	G	1: 170,921,004 (GRCm38)	L190P	probably damaging	Het
Galnt18	A	T	7: 111,779,428 (GRCm38)	Y40*	probably null	Het
Gdf7	A	T	12: 8,298,073 (GRCm38)	M416K	probably damaging	Het
Gm11232	T	A	4: 71,756,919 (GRCm38)		probably null	Het
Gpam	T	A	19: 55,088,176 (GRCm38)	N198Y	probably damaging	Het
Grip1	C	T	10: 119,986,350 (GRCm38)	S327F	possibly damaging	Het
Hey2	C	T	10: 30,834,356 (GRCm38)	A134T	probably benign	Het
Kat6a	T	C	8: 22,938,652 (GRCm38)	I1341T	probably benign	Het
Kcnd3	T	C	3: 105,668,186 (GRCm38)	L542P	probably benign	Het
Lars	G	A	18: 42,210,050 (GRCm38)	R1101C	probably damaging	Het
Lman2	T	C	13: 55,351,251 (GRCm38)	D234G	probably benign	Het
Map3k19	A	C	1: 127,817,898 (GRCm38)	I1273R	probably damaging	Het
Matn1	T	A	4: 130,950,019 (GRCm38)	F180I	possibly damaging	Het
Meikin	T	A	11: 54,370,941 (GRCm38)	L61*	probably null	Het
Mroh2b	G	T	15: 4,925,684 (GRCm38)	D720Y	probably damaging	Het
Myh13	T	C	11: 67,331,046 (GRCm38)	I199T	probably damaging	Het
Myh4	T	A	11: 67,248,461 (GRCm38)	S535T	probably damaging	Het
Myo5a	T	C	9: 75,213,065 (GRCm38)	M1715T	probably damaging	Het
Nat8	A	T	6: 85,830,989 (GRCm38)	V54D	probably damaging	Het
Nbea	A	G	3: 56,085,327 (GRCm38)	V286A	probably damaging	Het
Ndnf	A	G	6: 65,704,014 (GRCm38)	K426E	possibly damaging	Het
Nup210l	T	A	3: 90,190,972 (GRCm38)	N1410K	possibly damaging	Het
Oca2	A	T	7: 56,321,521 (GRCm38)	T399S	probably damaging	Het
Olfr1045	A	G	2: 86,198,252 (GRCm38)	S167P	probably damaging	Het
Olfr118	A	T	17: 37,672,925 (GRCm38)	K301*	probably null	Het
Olfr250	G	A	9: 38,368,196 (GRCm38)	V217I	probably benign	Het
Olfr366	A	C	2: 37,219,659 (GRCm38)	T57P	possibly damaging	Het
Olfr644	A	T	7: 104,068,459 (GRCm38)	C191S	probably damaging	Het
Olfr652	T	A	7: 104,565,071 (GRCm38)	N283K	probably damaging	Het
Otogl	A	C	10: 107,878,152 (GRCm38)		probably null	Het
Pde4b	C	T	4: 102,605,176 (GRCm38)	T511I	probably damaging	Het
Proser3	A	G	7: 30,539,747 (GRCm38)		probably null	Het
Psmd12	G	A	11: 107,479,646 (GRCm38)	V24M	probably damaging	Het
Rbm17	A	T	2: 11,593,461 (GRCm38)	M170K	probably benign	Het
Rims2	C	T	15: 39,511,314 (GRCm38)	T1064I	possibly damaging	Het
Ripor3	C	T	2: 167,992,653 (GRCm38)	V281M	probably damaging	Het
Rreb1	C	A	13: 37,946,928 (GRCm38)	Q1353K	possibly damaging	Het
Sgo2a	A	G	1: 58,015,806 (GRCm38)	D383G	probably benign	Het
Slx1b	A	T	7: 126,692,796 (GRCm38)	V63E	probably damaging	Het
Son	A	G	16: 91,657,086 (GRCm38)	D907G	probably damaging	Het
Src	G	A	2: 157,469,212 (GRCm38)	V401M	probably damaging	Het
St3gal4	T	C	9: 35,054,757 (GRCm38)	K24E	possibly damaging	Het
Stat6	A	G	10: 127,658,245 (GRCm38)	K647R	probably damaging	Het
Tbl1xr1	G	A	3: 22,193,169 (GRCm38)		probably null	Het
Tlk2	G	A	11: 105,256,952 (GRCm38)		probably null	Het
Tmbim6	T	A	15: 99,401,615 (GRCm38)	I3K	probably benign	Het
Tmeff2	A	T	1: 51,181,867 (GRCm38)	I334F	probably damaging	Het
Ttn	T	C	2: 76,840,315 (GRCm38)		probably null	Het
Ubl7	T	A	9: 57,914,611 (GRCm38)	I81N	probably damaging	Het
Ugt1a10	A	G	1: 88,055,711 (GRCm38)	Y77C	probably damaging	Het
Uqcrfs1	A	G	13: 30,540,907 (GRCm38)	C217R	probably damaging	Het
Usp50	T	C	2: 126,761,634 (GRCm38)	T331A	probably benign	Het
Vmn1r65	A	G	7: 6,009,157 (GRCm38)	V26A	probably benign	Het
Wdfy3	A	C	5: 101,917,579 (GRCm38)	V1241G	possibly damaging	Het
Wtap	A	C	17: 12,981,744 (GRCm38)		probably null	Het
Zbtb40	C	A	4: 136,984,837 (GRCm38)	A1187S	possibly damaging	Het
Zfp57	T	C	17: 37,006,098 (GRCm38)	S20P	probably damaging	Het
Zfp592	A	G	7: 81,024,479 (GRCm38)	D397G	probably damaging	Het
Zfp747	A	T	7: 127,374,504 (GRCm38)	S165T	probably benign	Het
Zfp949	C	T	9: 88,569,838 (GRCm38)	T487I	probably damaging	Het
Zscan4d	A	G	7: 11,164,994 (GRCm38)	C119R	probably damaging	Het

Other mutations in Sik3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01569:Sik3	APN	9	46,211,726 (GRCm38)	missense	probably benign	0.37
IGL02957:Sik3	APN	9	46,195,845 (GRCm38)	missense	possibly damaging	0.90
Holistic	UTSW	9	46,212,241 (GRCm38)	nonsense	probably null
IGL03052:Sik3	UTSW	9	46,198,149 (GRCm38)	missense	probably damaging	0.97
PIT4515001:Sik3	UTSW	9	46,208,731 (GRCm38)	missense	probably damaging	1.00
R0119:Sik3	UTSW	9	46,208,740 (GRCm38)	missense	possibly damaging	0.81
R0299:Sik3	UTSW	9	46,208,740 (GRCm38)	missense	possibly damaging	0.81
R0344:Sik3	UTSW	9	46,208,811 (GRCm38)	missense	probably damaging	0.97
R0411:Sik3	UTSW	9	46,208,770 (GRCm38)	missense	probably damaging	0.99
R0499:Sik3	UTSW	9	46,208,740 (GRCm38)	missense	possibly damaging	0.81
R0745:Sik3	UTSW	9	46,198,239 (GRCm38)	missense	probably benign	0.10
R1017:Sik3	UTSW	9	46,195,809 (GRCm38)	missense	probably benign	0.00
R1310:Sik3	UTSW	9	46,219,426 (GRCm38)	missense	possibly damaging	0.81
R1355:Sik3	UTSW	9	46,195,872 (GRCm38)	critical splice donor site	probably benign
R1406:Sik3	UTSW	9	46,123,345 (GRCm38)	splice site	probably benign
R1497:Sik3	UTSW	9	46,221,089 (GRCm38)	missense	probably benign	0.00
R1497:Sik3	UTSW	9	46,202,022 (GRCm38)	missense	probably damaging	1.00
R1852:Sik3	UTSW	9	46,221,089 (GRCm38)	missense	probably benign	0.00
R1883:Sik3	UTSW	9	46,221,089 (GRCm38)	missense	probably benign	0.00
R1884:Sik3	UTSW	9	46,221,089 (GRCm38)	missense	probably benign	0.00
R1903:Sik3	UTSW	9	46,221,089 (GRCm38)	missense	probably benign	0.00
R1918:Sik3	UTSW	9	46,221,089 (GRCm38)	missense	probably benign	0.00
R2077:Sik3	UTSW	9	46,219,503 (GRCm38)	missense	probably damaging	1.00
R2379:Sik3	UTSW	9	46,155,409 (GRCm38)	missense	probably damaging	1.00
R3791:Sik3	UTSW	9	46,194,822 (GRCm38)	missense	possibly damaging	0.94
R3809:Sik3	UTSW	9	46,219,486 (GRCm38)	missense	probably benign	0.05
R3955:Sik3	UTSW	9	46,198,593 (GRCm38)	missense	probably damaging	1.00
R3980:Sik3	UTSW	9	46,202,063 (GRCm38)	missense	probably damaging	1.00
R4753:Sik3	UTSW	9	46,198,214 (GRCm38)	missense	probably damaging	0.99
R5195:Sik3	UTSW	9	46,208,844 (GRCm38)	critical splice donor site	probably null
R5256:Sik3	UTSW	9	46,212,254 (GRCm38)	missense	probably damaging	0.99
R5432:Sik3	UTSW	9	46,123,241 (GRCm38)	missense	probably benign	0.45
R5985:Sik3	UTSW	9	46,211,675 (GRCm38)	missense	probably damaging	1.00
R6310:Sik3	UTSW	9	46,178,486 (GRCm38)	missense	probably damaging	1.00
R6540:Sik3	UTSW	9	46,212,053 (GRCm38)	missense	probably benign
R6732:Sik3	UTSW	9	46,212,553 (GRCm38)	missense	probably benign	0.02
R6812:Sik3	UTSW	9	46,210,769 (GRCm38)	missense	probably damaging	1.00
R7069:Sik3	UTSW	9	46,210,743 (GRCm38)	missense	probably damaging	1.00
R7830:Sik3	UTSW	9	46,212,057 (GRCm38)	small deletion	probably benign
R7875:Sik3	UTSW	9	46,123,230 (GRCm38)	missense	probably damaging	1.00
R8558:Sik3	UTSW	9	46,155,448 (GRCm38)	missense	probably damaging	1.00
R8806:Sik3	UTSW	9	46,209,067 (GRCm38)	missense	probably damaging	0.96
R8812:Sik3	UTSW	9	46,178,513 (GRCm38)	missense	probably benign	0.40
R9063:Sik3	UTSW	9	46,212,437 (GRCm38)	missense	probably benign	0.36
R9159:Sik3	UTSW	9	46,212,241 (GRCm38)	nonsense	probably null
R9223:Sik3	UTSW	9	46,155,474 (GRCm38)	missense	probably damaging	0.99
R9232:Sik3	UTSW	9	46,211,918 (GRCm38)	missense	probably benign	0.00
R9489:Sik3	UTSW	9	46,208,819 (GRCm38)	missense	probably benign	0.08
R9605:Sik3	UTSW	9	46,208,819 (GRCm38)	missense	probably benign	0.08
R9660:Sik3	UTSW	9	46,194,844 (GRCm38)	missense	possibly damaging	0.86
R9728:Sik3	UTSW	9	46,194,844 (GRCm38)	missense	possibly damaging	0.86
X0017:Sik3	UTSW	9	46,212,499 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CACCTGTGAGGACATCAAGAGAGC -3'
(R):5'- ACACATTGAGGCTATGAGGGGCTG -3'

Sequencing Primer
(F):5'- TAACATCTGAAGGGCCTGCTG -3'
(R):5'- CTATGAGGGGCTGGCACTG -3'

Posted On

2014-03-14