Mutagenetix > Incidental Mutation

Incidental Mutation 'R8812:Sik3'

672500

Institutional Source

Beutler Lab

Gene Symbol

Sik3

Ensembl Gene

ENSMUSG00000034135

Gene Name

SIK family kinase 3

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8812 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46012820-46224194 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 46178513 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 275 (V275L)

Ref Sequence

ENSEMBL: ENSMUSP00000121032 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000112859
Gene: ENSMUSG00000034135
AA Change: V227L

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 benign
Transcript: ENSMUST00000120463
AA Change: V273L

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000112749
Gene: ENSMUSG00000034135
AA Change: V273L

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

SMART Domains

Protein: ENSMUSP00000115981
Gene: ENSMUSG00000034135
AA Change: V177L

Domain	Start	End	E-Value	Type
S_TKc	1	220	3.32e-70	SMART
low complexity region	434	443	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126865
AA Change: V275L

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000121032
Gene: ENSMUSG00000034135
AA Change: V275L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	A	13: 77,332,352	P1167Q	probably damaging	Het
Adcy10	A	T	1: 165,551,298	Q885H	probably damaging	Het
Alkal2	C	T	12: 30,890,056	L139F	probably damaging	Het
Ankrd17	A	T	5: 90,293,203	M439K	probably benign	Het
Arl11	C	A	14: 61,310,973	Y77*	probably null	Het
Bcas3	T	C	11: 85,559,147	Y669H	probably benign	Het
Bpifb3	C	T	2: 153,922,596	A136V	probably benign	Het
Btbd11	A	G	10: 85,627,249	Q626R	probably damaging	Het
C87414	T	C	5: 93,637,801	T207A	possibly damaging	Het
Ccne2	A	G	4: 11,202,279	T345A	probably benign	Het
Ciz1	T	C	2: 32,364,274	S76P	probably benign	Het
Clip4	A	T	17: 71,800,805	K94*	probably null	Het
Cthrc1	G	A	15: 39,084,471	R195H	probably damaging	Het
D430042O09Rik	A	C	7: 125,797,695	R309S	probably benign	Het
Ddx31	T	C	2: 28,840,804		probably benign	Het
Elf2	T	A	3: 51,266,767	D113V	possibly damaging	Het
Esrrb	A	G	12: 86,488,550	N155S	probably benign	Het
Fam198b	T	C	3: 79,908,771	S363P	possibly damaging	Het
Flnb	A	G	14: 7,887,624	D478G	probably benign	Het
Galm	T	A	17: 80,127,786	L24H	probably damaging	Het
Gm14124	T	A	2: 150,267,704	C105S	possibly damaging	Het
Gon4l	G	A	3: 88,895,007	G975D	possibly damaging	Het
Hspbp1	T	G	7: 4,664,784	M237L	probably benign	Het
Ighv1-62-1	A	T	12: 115,386,747	M100K	probably damaging	Het
Ipo8	A	T	6: 148,775,077	D971E	possibly damaging	Het
Itgax	C	T	7: 128,133,807	A286V	probably damaging	Het
Jpt2	T	C	17: 24,960,604	Q3R	probably benign	Het
Klrg2	A	C	6: 38,636,903	L55R	probably damaging	Het
Lrp6	T	A	6: 134,456,178	M1397L	probably benign	Het
Lrrc31	T	A	3: 30,679,179	Q462L	probably benign	Het
Lyg2	T	A	1: 37,909,973	I103F	probably damaging	Het
Map10	T	C	8: 125,669,925	V19A	probably damaging	Het
Map1b	T	A	13: 99,432,815	M1133L	unknown	Het
Mrgpra4	A	G	7: 47,981,733	V40A	probably benign	Het
Myh1	G	A	11: 67,209,141	G626R	probably benign	Het
Myo9a	T	C	9: 59,779,747	V45A	probably benign	Het
Ncdn	A	G	4: 126,745,112	F638S	possibly damaging	Het
Ncs1	T	A	2: 31,284,201	M121K	probably damaging	Het
Nf1	T	C	11: 79,546,354	V16A	probably damaging	Het
Nktr	T	A	9: 121,750,251	D1128E	unknown	Het
Nup205	T	G	6: 35,214,334	L1000R	probably damaging	Het
Obscn	T	C	11: 59,035,095	E5604G	probably damaging	Het
Olfr1240	A	G	2: 89,439,865	V138A	probably benign	Het
Olfr1260	G	T	2: 89,978,371	A198S	possibly damaging	Het
Olfr1370	T	C	13: 21,073,050	N84D	probably damaging	Het
Olfr1446	A	T	19: 12,890,196	V127E	probably damaging	Het
Olfr409-ps1	T	A	11: 74,317,708	S228T	unknown	Het
Olfr615	G	T	7: 103,560,609	C44F	probably benign	Het
Olfr834	A	G	9: 18,988,516	H176R	possibly damaging	Het
Ovch2	T	A	7: 107,793,255	I294F	probably damaging	Het
Ovch2	A	T	7: 107,794,044	C207*	probably null	Het
P3h2	T	A	16: 25,982,717	Y397F	possibly damaging	Het
Pappa	A	T	4: 65,204,929	I834F	possibly damaging	Het
Pcdha11	T	C	18: 37,007,663	S782P	probably benign	Het
Pex1	T	C	5: 3,631,614	V980A	probably benign	Het
Pik3c2a	G	T	7: 116,351,877	L1258I	probably damaging	Het
Pmp22	T	A	11: 63,158,413	*161R	probably null	Het
Ppp1r26	T	A	2: 28,451,180	M274K	probably benign	Het
Ppp6r2	T	C	15: 89,283,072	V830A	probably benign	Het
Prss1	T	A	6: 41,462,586	N84K	probably benign	Het
Rab3il1	G	A	19: 10,026,777	A18T	probably damaging	Het
Sbf2	A	T	7: 110,329,862	S1471T	probably damaging	Het
Setdb1	T	A	3: 95,356,060	D45V	probably damaging	Het
Skint6	C	A	4: 112,988,952	M659I	probably benign	Het
Slc24a1	T	A	9: 64,928,703	D714V	unknown	Het
Slc26a5	T	A	5: 21,813,882	D653V	probably damaging	Het
Snrnp27	A	T	6: 86,676,214	C141S	probably benign	Het
Stradb	A	G	1: 58,994,319	I380M	probably benign	Het
Sult1e1	T	C	5: 87,587,642	Y59C	probably benign	Het
Tas2r122	C	T	6: 132,711,739	A64T	probably benign	Het
Tep1	C	T	14: 50,837,132	C1812Y	probably damaging	Het
Tln2	C	A	9: 67,221,411	E1465D	possibly damaging	Het
Trio	A	T	15: 27,905,225	C152S	unknown	Het
Tro	G	A	X: 150,655,559	S34L	unknown	Het
Vmn1r15	A	G	6: 57,258,138		probably benign	Het
Vmn1r19	A	G	6: 57,404,451		probably benign	Het
Vmn1r75	A	G	7: 11,880,703	T121A	possibly damaging	Het
Vmn2r32	A	G	7: 7,474,670	F241L	probably damaging	Het
Vmn2r66	A	G	7: 85,005,685	L472P	probably damaging	Het
Ylpm1	G	T	12: 84,996,792	W101C	unknown	Het
Zdbf2	C	A	1: 63,308,113	H1884N	probably benign	Het

Other mutations in Sik3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01569:Sik3	APN	9	46211726	missense	probably benign	0.37
IGL02957:Sik3	APN	9	46195845	missense	possibly damaging	0.90
Holistic	UTSW	9	46212241	nonsense	probably null
IGL03052:Sik3	UTSW	9	46198149	missense	probably damaging	0.97
PIT4515001:Sik3	UTSW	9	46208731	missense	probably damaging	1.00
R0119:Sik3	UTSW	9	46208740	missense	possibly damaging	0.81
R0299:Sik3	UTSW	9	46208740	missense	possibly damaging	0.81
R0344:Sik3	UTSW	9	46208811	missense	probably damaging	0.97
R0411:Sik3	UTSW	9	46208770	missense	probably damaging	0.99
R0499:Sik3	UTSW	9	46208740	missense	possibly damaging	0.81
R0745:Sik3	UTSW	9	46198239	missense	probably benign	0.10
R1017:Sik3	UTSW	9	46195809	missense	probably benign	0.00
R1310:Sik3	UTSW	9	46219426	missense	possibly damaging	0.81
R1355:Sik3	UTSW	9	46195872	critical splice donor site	probably benign
R1406:Sik3	UTSW	9	46123345	splice site	probably benign
R1457:Sik3	UTSW	9	46221148	missense	probably damaging	1.00
R1497:Sik3	UTSW	9	46202022	missense	probably damaging	1.00
R1497:Sik3	UTSW	9	46221089	missense	probably benign	0.00
R1852:Sik3	UTSW	9	46221089	missense	probably benign	0.00
R1883:Sik3	UTSW	9	46221089	missense	probably benign	0.00
R1884:Sik3	UTSW	9	46221089	missense	probably benign	0.00
R1903:Sik3	UTSW	9	46221089	missense	probably benign	0.00
R1918:Sik3	UTSW	9	46221089	missense	probably benign	0.00
R2077:Sik3	UTSW	9	46219503	missense	probably damaging	1.00
R2379:Sik3	UTSW	9	46155409	missense	probably damaging	1.00
R3791:Sik3	UTSW	9	46194822	missense	possibly damaging	0.94
R3809:Sik3	UTSW	9	46219486	missense	probably benign	0.05
R3955:Sik3	UTSW	9	46198593	missense	probably damaging	1.00
R3980:Sik3	UTSW	9	46202063	missense	probably damaging	1.00
R4753:Sik3	UTSW	9	46198214	missense	probably damaging	0.99
R5195:Sik3	UTSW	9	46208844	critical splice donor site	probably null
R5256:Sik3	UTSW	9	46212254	missense	probably damaging	0.99
R5432:Sik3	UTSW	9	46123241	missense	probably benign	0.45
R5985:Sik3	UTSW	9	46211675	missense	probably damaging	1.00
R6310:Sik3	UTSW	9	46178486	missense	probably damaging	1.00
R6540:Sik3	UTSW	9	46212053	missense	probably benign
R6732:Sik3	UTSW	9	46212553	missense	probably benign	0.02
R6812:Sik3	UTSW	9	46210769	missense	probably damaging	1.00
R7069:Sik3	UTSW	9	46210743	missense	probably damaging	1.00
R7830:Sik3	UTSW	9	46212057	small deletion	probably benign
R7875:Sik3	UTSW	9	46123230	missense	probably damaging	1.00
R8558:Sik3	UTSW	9	46155448	missense	probably damaging	1.00
R8806:Sik3	UTSW	9	46209067	missense	probably damaging	0.96
R9063:Sik3	UTSW	9	46212437	missense	probably benign	0.36
R9159:Sik3	UTSW	9	46212241	nonsense	probably null
R9223:Sik3	UTSW	9	46155474	missense	probably damaging	0.99
R9232:Sik3	UTSW	9	46211918	missense	probably benign	0.00
R9489:Sik3	UTSW	9	46208819	missense	probably benign	0.08
R9605:Sik3	UTSW	9	46208819	missense	probably benign	0.08
R9660:Sik3	UTSW	9	46194844	missense	possibly damaging	0.86
R9728:Sik3	UTSW	9	46194844	missense	possibly damaging	0.86
X0017:Sik3	UTSW	9	46212499	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGACAATTGACTTTGACACTGACCC -3'
(R):5'- TAAGGAACCTTGCCTCCTGG -3'

Sequencing Primer
(F):5'- TCCTAAAAAGAGGACAAGTTGGTC -3'
(R):5'- AACCTTGCCTCCTGGACGAG -3'

Posted On

2021-04-30