Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01569:Sik3'

91079

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sik3

Ensembl Gene

ENSMUSG00000034135

Gene Name

SIK family kinase 3

Synonyms

9030204A07Rik, 5730525O22Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01569

Quality Score

Status

Chromosome

Chromosomal Location

45924118-46135492 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46123024 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 891 (H891R)

Ref Sequence

ENSEMBL: ENSMUSP00000112749 (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
AA Change: H891R

PolyPhen 2 Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112749
Gene: ENSMUSG00000034135
AA Change: H891R

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: ENSMUST00000126865
AA Change: H941R

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000121032
Gene: ENSMUSG00000034135
AA Change: H941R

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

Coding Region Coverage

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 9,215,827 (GRCm39)	V311A	probably benign	Het
Bdh1	T	C	16: 31,273,909 (GRCm39)	M194T	probably benign	Het
Dnmbp	T	C	19: 43,863,295 (GRCm39)	R808G	probably benign	Het
Esco2	T	C	14: 66,063,977 (GRCm39)	I402M	probably benign	Het
Gm5422	T	C	10: 31,125,897 (GRCm39)		noncoding transcript	Het
Il5ra	C	A	6: 106,708,794 (GRCm39)	M1I	probably null	Het
Kcnk4	T	A	19: 6,904,545 (GRCm39)	I240F	probably damaging	Het
Mast4	T	C	13: 102,897,523 (GRCm39)	E698G	probably damaging	Het
Mkln1	A	G	6: 31,405,063 (GRCm39)		probably benign	Het
Mypn	C	T	10: 62,963,538 (GRCm39)	G978R	probably damaging	Het
Or2m12	T	C	16: 19,105,410 (GRCm39)	T28A	probably benign	Het
Podn	T	A	4: 107,881,496 (GRCm39)	Y6F	probably damaging	Het
Psmg2	G	A	18: 67,786,293 (GRCm39)	V218I	probably benign	Het
Rad54l	T	C	4: 115,956,195 (GRCm39)	D544G	probably damaging	Het
Reck	C	A	4: 43,925,172 (GRCm39)	S470R	probably benign	Het
Tbata	C	T	10: 61,011,739 (GRCm39)	R92*	probably null	Het
Tdrd1	A	G	19: 56,822,841 (GRCm39)	N103S	probably damaging	Het
Timm21	A	G	18: 84,969,400 (GRCm39)	V8A	probably benign	Het
Tnn	A	G	1: 159,948,124 (GRCm39)	V863A	possibly damaging	Het
Togaram1	A	G	12: 65,029,436 (GRCm39)	D953G	possibly damaging	Het
Tpm1	T	C	9: 66,938,390 (GRCm39)		probably null	Het
Trgv4	A	G	13: 19,369,678 (GRCm39)		probably benign	Het
Vmn1r8	A	T	6: 57,013,272 (GRCm39)	N108Y	possibly damaging	Het
Vmn1r89	T	C	7: 12,953,432 (GRCm39)	M56T	probably benign	Het
Ythdc2	A	G	18: 45,020,718 (GRCm39)	E1434G	probably benign	Het

Other mutations in Sik3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R1310:Sik3	UTSW	9	46,130,724 (GRCm39)	missense	possibly damaging	0.81
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

Posted On

2013-12-09