Mutagenetix > Incidental Mutation

Incidental Mutation 'R1884:Sik3'

209355

Institutional Source

Beutler Lab

Gene Symbol

Sik3

Ensembl Gene

ENSMUSG00000034135

Gene Name

SIK family kinase 3

Synonyms

9030204A07Rik, 5730525O22Rik

MMRRC Submission

039905-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1884 (G1)

Quality Score

131

Status

Validated

Chromosome

Chromosomal Location

45924118-46135492 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 46132387 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 1276 (H1276Q)

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: H1170Q

SMART Domains

Protein: ENSMUSP00000112859
Gene: ENSMUSG00000034135
AA Change: H1170Q

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: H1276Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000112749
Gene: ENSMUSG00000034135
AA Change: H1276Q

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: H1326Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000121032
Gene: ENSMUSG00000034135
AA Change: H1326Q

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.1%
20x: 92.3%

Validation Efficiency

99% (94/95)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad11	T	C	9: 103,991,684 (GRCm39)	M573T	probably benign	Het
Ank3	A	G	10: 69,851,422 (GRCm39)	T1162A	possibly damaging	Het
Anxa2	TCCC	TCC	9: 69,397,036 (GRCm39)		probably null	Het
Arpp21	T	A	9: 111,972,595 (GRCm39)	D232V	probably damaging	Het
Atg2a	T	C	19: 6,304,414 (GRCm39)	Y1144H	probably damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Brs3	T	C	X: 56,092,449 (GRCm39)	I311T	probably benign	Het
Cenpf	C	T	1: 189,379,046 (GRCm39)	V2915I	probably benign	Het
Cep170	G	T	1: 176,602,245 (GRCm39)	T287K	probably benign	Het
Chst2	G	A	9: 95,287,611 (GRCm39)	T245I	probably damaging	Het
Cnot4	C	T	6: 35,055,092 (GRCm39)	V66I	probably damaging	Het
Cntn4	A	G	6: 106,656,353 (GRCm39)	T885A	probably benign	Het
Col20a1	C	T	2: 180,634,703 (GRCm39)	T131I	possibly damaging	Het
Coro7	G	T	16: 4,446,683 (GRCm39)		probably benign	Het
Cpne8	C	A	15: 90,532,831 (GRCm39)		probably benign	Het
Dbnl	G	A	11: 5,749,247 (GRCm39)	G356E	probably benign	Het
Ddx31	T	A	2: 28,749,002 (GRCm39)	I266N	probably damaging	Het
Dnah7a	A	T	1: 53,580,159 (GRCm39)	I1592N	probably damaging	Het
Dok6	A	T	18: 89,492,130 (GRCm39)	L149Q	probably damaging	Het
Eri2	G	A	7: 119,390,346 (GRCm39)	T94I	probably benign	Het
Ermp1	A	G	19: 29,594,079 (GRCm39)	V697A	probably benign	Het
Foxc1	C	T	13: 31,991,648 (GRCm39)	T153M	probably damaging	Het
Fry	A	G	5: 150,326,985 (GRCm39)	I1224V	probably benign	Het
Fzd5	G	A	1: 64,774,813 (GRCm39)	T316M	probably damaging	Het
Gcm1	G	T	9: 77,966,861 (GRCm39)	V27L	probably benign	Het
Gm5773	A	T	3: 93,681,348 (GRCm39)	D340V	probably benign	Het
Gucy2d	T	A	7: 98,100,815 (GRCm39)	H379Q	probably benign	Het
Hectd1	T	A	12: 51,847,738 (GRCm39)	M392L	probably benign	Het
Itpr2	A	C	6: 146,287,469 (GRCm39)	D452E	probably benign	Het
Krtap2-4	G	C	11: 99,505,505 (GRCm39)		probably benign	Het
Lrit1	T	C	14: 36,783,710 (GRCm39)	V346A	possibly damaging	Het
Lrrk1	A	G	7: 65,912,185 (GRCm39)	S1792P	probably benign	Het
Marveld2	A	T	13: 100,737,129 (GRCm39)	V168E	probably benign	Het
Ms4a4b	T	A	19: 11,438,629 (GRCm39)	D149E	probably damaging	Het
Myom2	G	A	8: 15,164,278 (GRCm39)	D1058N	probably benign	Het
Ncam2	C	T	16: 81,234,571 (GRCm39)	P142L	probably damaging	Het
Nek9	A	G	12: 85,379,330 (GRCm39)	L192P	probably damaging	Het
Nol10	T	C	12: 17,418,390 (GRCm39)		probably null	Het
Nrcam	T	C	12: 44,591,538 (GRCm39)	V194A	probably damaging	Het
Nudt6	A	G	3: 37,466,549 (GRCm39)	V82A	probably benign	Het
Odf2l	A	T	3: 144,856,809 (GRCm39)	N492I	probably damaging	Het
Or2a12	T	C	6: 42,904,764 (GRCm39)	S200P	probably damaging	Het
Or51f1d	T	C	7: 102,701,189 (GRCm39)	I228T	probably benign	Het
Pkn3	T	C	2: 29,972,840 (GRCm39)	V276A	probably damaging	Het
Prl3b1	T	G	13: 27,431,886 (GRCm39)	L137R	possibly damaging	Het
Rab11fip2	A	G	19: 59,925,762 (GRCm39)	F10L	probably damaging	Het
Rab3b	T	A	4: 108,786,649 (GRCm39)	V133E	probably damaging	Het
Rnf111	A	T	9: 70,383,520 (GRCm39)	S138T	probably damaging	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Runx1t1	A	G	4: 13,835,767 (GRCm39)	T75A	probably benign	Het
Ryr2	T	G	13: 11,753,242 (GRCm39)	K1693T	probably damaging	Het
Sdha	A	T	13: 74,481,255 (GRCm39)	I317N	probably damaging	Het
Serpina1d	T	A	12: 103,732,037 (GRCm39)	D274V	possibly damaging	Het
Setd2	T	G	9: 110,385,486 (GRCm39)		probably null	Het
Sh3tc2	A	G	18: 62,141,646 (GRCm39)	Y1109C	probably damaging	Het
Slc22a2	A	G	17: 12,833,713 (GRCm39)		probably benign	Het
Slc35f4	A	T	14: 49,551,091 (GRCm39)	W108R	probably damaging	Het
Slc4a1ap	A	G	5: 31,691,524 (GRCm39)	E440G	probably damaging	Het
Slc6a4	A	G	11: 76,904,201 (GRCm39)	T219A	probably benign	Het
Stxbp5	C	A	10: 9,688,042 (GRCm39)	V420F	possibly damaging	Het
Svil	T	G	18: 5,094,640 (GRCm39)	V1440G	possibly damaging	Het
Tas2r126	A	T	6: 42,411,961 (GRCm39)	T165S	probably benign	Het
Tbck	T	C	3: 132,430,677 (GRCm39)		probably null	Het
Tnxb	T	A	17: 34,908,539 (GRCm39)	D1520E	probably benign	Het
Top1mt	C	T	15: 75,539,750 (GRCm39)	R287H	possibly damaging	Het
Trdn	A	G	10: 33,133,091 (GRCm39)	K314E	probably benign	Het
Troap	T	A	15: 98,975,779 (GRCm39)	C233S	probably benign	Het
Usp28	T	C	9: 48,947,247 (GRCm39)	M571T	probably damaging	Het
Vac14	A	G	8: 111,438,319 (GRCm39)	H644R	probably damaging	Het
Vipr1	C	T	9: 121,494,930 (GRCm39)	P327L	possibly damaging	Het
Vmn1r31	C	T	6: 58,449,029 (GRCm39)	V279I	probably damaging	Het
Vmn1r69	G	A	7: 10,314,678 (GRCm39)	R18W	probably benign	Het
Vmn2r18	G	T	5: 151,499,190 (GRCm39)	Q425K	probably benign	Het
Vmn2r60	T	C	7: 41,786,094 (GRCm39)	V299A	probably damaging	Het
Vps13b	A	T	15: 35,430,437 (GRCm39)		probably benign	Het
Zfp157	A	G	5: 138,443,102 (GRCm39)	D31G	probably damaging	Het
Zfp385c	A	C	11: 100,521,532 (GRCm39)	V176G	probably benign	Het
Zfp831	A	G	2: 174,545,870 (GRCm39)	H1325R	possibly 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
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
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'- AGGGTCCCTAACATCTGAAGGG -3'
(R):5'- CGCTCAAGTTTAGTGGGGTAC -3'

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

Posted On

2014-06-30