Mutagenetix > Incidental Mutation

Incidental Mutation 'R1310:Sik3'

157908

Institutional Source

Beutler Lab

Gene Symbol

Sik3

Ensembl Gene

ENSMUSG00000034135

Gene Name

SIK family kinase 3

Synonyms

9030204A07Rik, 5730525O22Rik

MMRRC Submission

039376-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1310 (G1)

Quality Score

223

Status

Not validated

Chromosome

Chromosomal Location

45924118-46135492 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46130724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1170 (E1170G)

Ref Sequence

ENSEMBL: ENSMUSP00000112749 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000120247
AA Change: E1064G

SMART Domains

Protein: ENSMUSP00000112859
Gene: ENSMUSG00000034135
AA Change: E1064G

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

possibly damaging
Transcript: ENSMUST00000120463
AA Change: E1170G

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112749
Gene: ENSMUSG00000034135
AA Change: E1170G

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

possibly damaging
Transcript: ENSMUST00000126865
AA Change: E1220G

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000121032
Gene: ENSMUSG00000034135
AA Change: E1220G

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	A	G	17: 57,754,936 (GRCm39)	H678R	probably benign	Het
Adgrv1	A	G	13: 81,714,496 (GRCm39)	V929A	probably benign	Het
Bcl10	T	G	3: 145,636,180 (GRCm39)	V26G	probably damaging	Het
C4b	A	G	17: 34,948,567 (GRCm39)	V1581A	probably damaging	Het
C87436	A	G	6: 86,422,432 (GRCm39)	E2G	possibly damaging	Het
Def6	G	A	17: 28,436,593 (GRCm39)	V86I	probably benign	Het
Drd3	A	G	16: 43,641,892 (GRCm39)	K403E	probably damaging	Het
Eme1	G	A	11: 94,536,368 (GRCm39)	R534C	probably damaging	Het
H2-T24	G	T	17: 36,325,888 (GRCm39)	Y234*	probably null	Het
Hoxa13	CCG	CCGCG	6: 52,237,618 (GRCm39)		probably null	Het
Ifit1bl1	A	G	19: 34,571,096 (GRCm39)	S454P	possibly damaging	Het
Or4x11	T	A	2: 89,868,047 (GRCm39)	D261E	probably benign	Het
Or51a43	C	T	7: 103,717,805 (GRCm39)	M144I	probably benign	Het
Pde4c	A	G	8: 71,202,572 (GRCm39)	D592G	possibly damaging	Het
Scn11a	C	T	9: 119,584,123 (GRCm39)	W1497*	probably null	Het
Soat1	A	G	1: 156,268,902 (GRCm39)	L183P	possibly damaging	Het
Svep1	T	A	4: 58,069,416 (GRCm39)	Y2790F	possibly damaging	Het
Tmeff2	T	C	1: 51,220,946 (GRCm39)	V307A	probably damaging	Het
Tmem38a	T	A	8: 73,333,814 (GRCm39)	F98I	probably damaging	Het
Yod1	C	T	1: 130,646,567 (GRCm39)	A148V	probably benign	Het
Zfp850	A	C	7: 27,688,884 (GRCm39)	S441R	probably benign	Het
Zfp976	G	A	7: 42,262,610 (GRCm39)	P409L	probably damaging	Het

Other mutations in Sik3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01569:Sik3	APN	9	46,123,024 (GRCm39)	missense	probably benign	0.37
IGL02957:Sik3	APN	9	46,107,143 (GRCm39)	missense	possibly damaging	0.90
Holistic	UTSW	9	46,123,539 (GRCm39)	nonsense	probably null
IGL03052:Sik3	UTSW	9	46,109,447 (GRCm39)	missense	probably damaging	0.97
PIT4515001:Sik3	UTSW	9	46,120,029 (GRCm39)	missense	probably damaging	1.00
R0119:Sik3	UTSW	9	46,120,038 (GRCm39)	missense	possibly damaging	0.81
R0299:Sik3	UTSW	9	46,120,038 (GRCm39)	missense	possibly damaging	0.81
R0344:Sik3	UTSW	9	46,120,109 (GRCm39)	missense	probably damaging	0.97
R0411:Sik3	UTSW	9	46,120,068 (GRCm39)	missense	probably damaging	0.99
R0499:Sik3	UTSW	9	46,120,038 (GRCm39)	missense	possibly damaging	0.81
R0745:Sik3	UTSW	9	46,109,537 (GRCm39)	missense	probably benign	0.10
R1017:Sik3	UTSW	9	46,107,107 (GRCm39)	missense	probably benign	0.00
R1355:Sik3	UTSW	9	46,107,170 (GRCm39)	critical splice donor site	probably benign
R1406:Sik3	UTSW	9	46,034,643 (GRCm39)	splice site	probably benign
R1457:Sik3	UTSW	9	46,132,446 (GRCm39)	missense	probably damaging	1.00
R1497:Sik3	UTSW	9	46,132,387 (GRCm39)	missense	probably benign	0.00
R1497:Sik3	UTSW	9	46,113,320 (GRCm39)	missense	probably damaging	1.00
R1852:Sik3	UTSW	9	46,132,387 (GRCm39)	missense	probably benign	0.00
R1883:Sik3	UTSW	9	46,132,387 (GRCm39)	missense	probably benign	0.00
R1884:Sik3	UTSW	9	46,132,387 (GRCm39)	missense	probably benign	0.00
R1903:Sik3	UTSW	9	46,132,387 (GRCm39)	missense	probably benign	0.00
R1918:Sik3	UTSW	9	46,132,387 (GRCm39)	missense	probably benign	0.00
R2077:Sik3	UTSW	9	46,130,801 (GRCm39)	missense	probably damaging	1.00
R2379:Sik3	UTSW	9	46,066,707 (GRCm39)	missense	probably damaging	1.00
R3791:Sik3	UTSW	9	46,106,120 (GRCm39)	missense	possibly damaging	0.94
R3809:Sik3	UTSW	9	46,130,784 (GRCm39)	missense	probably benign	0.05
R3955:Sik3	UTSW	9	46,109,891 (GRCm39)	missense	probably damaging	1.00
R3980:Sik3	UTSW	9	46,113,361 (GRCm39)	missense	probably damaging	1.00
R4753:Sik3	UTSW	9	46,109,512 (GRCm39)	missense	probably damaging	0.99
R5195:Sik3	UTSW	9	46,120,142 (GRCm39)	critical splice donor site	probably null
R5256:Sik3	UTSW	9	46,123,552 (GRCm39)	missense	probably damaging	0.99
R5432:Sik3	UTSW	9	46,034,539 (GRCm39)	missense	probably benign	0.45
R5985:Sik3	UTSW	9	46,122,973 (GRCm39)	missense	probably damaging	1.00
R6310:Sik3	UTSW	9	46,089,784 (GRCm39)	missense	probably damaging	1.00
R6540:Sik3	UTSW	9	46,123,351 (GRCm39)	missense	probably benign
R6732:Sik3	UTSW	9	46,123,851 (GRCm39)	missense	probably benign	0.02
R6812:Sik3	UTSW	9	46,122,067 (GRCm39)	missense	probably damaging	1.00
R7069:Sik3	UTSW	9	46,122,041 (GRCm39)	missense	probably damaging	1.00
R7830:Sik3	UTSW	9	46,123,355 (GRCm39)	small deletion	probably benign
R7875:Sik3	UTSW	9	46,034,528 (GRCm39)	missense	probably damaging	1.00
R8558:Sik3	UTSW	9	46,066,746 (GRCm39)	missense	probably damaging	1.00
R8806:Sik3	UTSW	9	46,120,365 (GRCm39)	missense	probably damaging	0.96
R8812:Sik3	UTSW	9	46,089,811 (GRCm39)	missense	probably benign	0.40
R9063:Sik3	UTSW	9	46,123,735 (GRCm39)	missense	probably benign	0.36
R9159:Sik3	UTSW	9	46,123,539 (GRCm39)	nonsense	probably null
R9223:Sik3	UTSW	9	46,066,772 (GRCm39)	missense	probably damaging	0.99
R9232:Sik3	UTSW	9	46,123,216 (GRCm39)	missense	probably benign	0.00
R9489:Sik3	UTSW	9	46,120,117 (GRCm39)	missense	probably benign	0.08
R9605:Sik3	UTSW	9	46,120,117 (GRCm39)	missense	probably benign	0.08
R9660:Sik3	UTSW	9	46,106,142 (GRCm39)	missense	possibly damaging	0.86
R9728:Sik3	UTSW	9	46,106,142 (GRCm39)	missense	possibly damaging	0.86
X0017:Sik3	UTSW	9	46,123,797 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGAGCACAAGCTAAGCCAGCAG -3'
(R):5'- GCCAACATACATAGGCATCGTCGC -3'

Sequencing Primer
(F):5'- GGTAAGGAGTGTCTTAAACCCC -3'
(R):5'- ATAGGCATCGTCGCTGTTC -3'

Posted On

2014-02-18