Mutagenetix > Incidental Mutation

Incidental Mutation 'R1355:Sik3'

156287

Institutional Source

Beutler Lab

Gene Symbol

Sik3

Ensembl Gene

ENSMUSG00000034135

Gene Name

SIK family kinase 3

Synonyms

MMRRC Submission

039420-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1355 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46012820-46224194 bp(+) (GRCm38)

Type of Mutation

critical splice donor site

DNA Base Change (assembly)

C to T at 46195872 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121032 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000120247

SMART Domains

Protein: ENSMUSP00000112859
Gene: ENSMUSG00000034135

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

SMART Domains

Protein: ENSMUSP00000112749
Gene: ENSMUSG00000034135

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 benign
Transcript: ENSMUST00000122865

SMART Domains

Protein: ENSMUSP00000115981
Gene: ENSMUSG00000034135

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

SMART Domains

Protein: ENSMUSP00000121032
Gene: ENSMUSG00000034135

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

noncoding transcript
Transcript: ENSMUST00000153152

Meta Mutation Damage Score

0.0781

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.4%

Validation Efficiency

100% (57/57)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	C	T	8: 123,962,052	G495D	probably damaging	Het
Ankrd52	A	G	10: 128,388,696	D781G	possibly damaging	Het
Arhgef5	T	A	6: 43,283,912	F1424I	probably damaging	Het
Atp10b	G	A	11: 43,151,655	W14*	probably null	Het
B4galnt4	T	C	7: 141,065,395	V259A	probably damaging	Het
Ccdc141	A	T	2: 77,030,601	I944N	probably damaging	Het
Ccdc146	A	T	5: 21,321,242	D224E	probably damaging	Het
Ccne1	A	G	7: 38,106,322	I43T	possibly damaging	Het
Cd226	T	A	18: 89,247,023	S29T	probably benign	Het
Cebpz	G	T	17: 78,935,324	D300E	probably benign	Het
Cryzl1	A	G	16: 91,692,658	V266A	possibly damaging	Het
Cyp2c68	A	G	19: 39,740,956	L29P	probably damaging	Het
Dennd3	A	C	15: 73,540,854		probably benign	Het
Dpy19l4	C	T	4: 11,303,371	W183*	probably null	Het
Eml6	T	G	11: 29,833,085	S599R	probably benign	Het
Erc1	A	T	6: 119,743,420	L440*	probably null	Het
Fam71e1	A	G	7: 44,496,691	K2E	possibly damaging	Het
Frem3	A	G	8: 80,690,702	Y2012C	probably damaging	Het
Gm10288	A	T	3: 146,838,993		noncoding transcript	Het
Gm1110	T	A	9: 26,883,761	K476N	probably benign	Het
Gm11937	A	T	11: 99,609,907	S95T	possibly damaging	Het
Hist1h2bl	T	A	13: 21,715,857	Q96L	probably damaging	Het
Hs6st1	T	A	1: 36,103,576	H197Q	probably damaging	Het
Ism1	A	T	2: 139,732,074	I115F	possibly damaging	Het
Itgb8	C	T	12: 119,171,003	G443E	probably benign	Het
Kalrn	T	A	16: 33,975,584	I1274F	possibly damaging	Het
Lrrcc1	G	T	3: 14,548,114	V299L	probably benign	Het
Mettl5	A	T	2: 69,881,420		probably null	Het
Nlrp2	G	T	7: 5,327,491	N635K	possibly damaging	Het
Olfr140	G	A	2: 90,051,613	T237I	probably benign	Het
Olfr1466	T	A	19: 13,342,518	Y253*	probably null	Het
Olfr1537	G	C	9: 39,238,251	P58A	probably benign	Het
Olfr198	A	G	16: 59,201,680	S249P	probably damaging	Het
Plxna1	A	G	6: 89,320,766		probably benign	Het
Ppp4r1	A	T	17: 65,840,987	E924D	probably benign	Het
Prdm2	C	T	4: 143,131,963	V1586I	probably benign	Het
Pros1	A	G	16: 62,919,558	K457E	probably benign	Het
Rer1	T	A	4: 155,075,624	M156L	probably benign	Het
Rgs16	A	T	1: 153,743,668	K140M	probably damaging	Het
Rgsl1	A	G	1: 153,807,761	M1T	probably null	Het
Setdb2	T	A	14: 59,417,441	K333N	probably damaging	Het
Sgo2a	A	G	1: 58,017,965	T1103A	possibly damaging	Het
Slc44a3	C	A	3: 121,531,671	G47V	probably damaging	Het
Snrpd1	G	A	18: 10,627,818	G103D	probably benign	Het
Soga3	A	T	10: 29,147,322	T222S	probably benign	Het
Sspo	T	A	6: 48,448,626	S60R	probably benign	Het
Susd1	C	T	4: 59,424,114	C37Y	possibly damaging	Het
Tiam1	A	T	16: 89,898,221	I116N	probably benign	Het
Ttc3	A	G	16: 94,418,637	S492G	possibly damaging	Het
Uckl1	G	T	2: 181,573,376	T213K	probably damaging	Het
Usp38	T	C	8: 80,985,033	E791G	possibly damaging	Het
Vps13b	C	T	15: 35,422,454	R187C	probably damaging	Het
Vwa3a	A	G	7: 120,784,111	Y645C	probably damaging	Het
Wasf3	T	C	5: 146,470,208		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
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
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
R8812:Sik3	UTSW	9	46178513	missense	probably benign	0.40
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
X0017:Sik3	UTSW	9	46212499	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGAACCAGGCTTTGGCAATCAAGAC -3'
(R):5'- TGGAGAAGGCTCTTCACCCTCATC -3'

Sequencing Primer
(F):5'- cctagccattgggaatctgag -3'
(R):5'- TCACTGTCCAAGTTCACAGC -3'

Posted On

2014-02-11