Mutagenetix > Incidental Mutation

Incidental Mutation 'R7069:Sik3'

548758

Institutional Source

Beutler Lab

Gene Symbol

Sik3

Ensembl Gene

ENSMUSG00000034135

Gene Name

SIK family kinase 3

Synonyms

9030204A07Rik, 5730525O22Rik

MMRRC Submission

045165-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7069 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45924118-46135492 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46122041 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 898 (L898P)

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: L802P

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 damaging
Transcript: ENSMUST00000120463
AA Change: L848P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112749
Gene: ENSMUSG00000034135
AA Change: L848P

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 damaging
Transcript: ENSMUST00000126865
AA Change: L898P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121032
Gene: ENSMUSG00000034135
AA Change: L898P

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: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (86/88)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	T	A	5: 77,024,203 (GRCm39)	I991L	probably benign	Het
Abtb3	C	A	10: 85,223,520 (GRCm39)	R110S	unknown	Het
Actg2	C	A	6: 83,497,745 (GRCm39)	G96V	probably damaging	Het
Adh5	T	A	3: 138,156,812 (GRCm39)	L166*	probably null	Het
Akap13	A	G	7: 75,260,010 (GRCm39)	D75G	probably benign	Het
Ank2	T	C	3: 126,739,947 (GRCm39)		probably benign	Het
Arfgap1	T	A	2: 180,615,913 (GRCm39)	D197E	probably benign	Het
Aste1	T	C	9: 105,273,906 (GRCm39)		probably null	Het
Atp8b2	T	A	3: 89,861,878 (GRCm39)	N78I	probably damaging	Het
Cacna2d3	T	A	14: 28,691,260 (GRCm39)		probably benign	Het
Chrd	T	A	16: 20,558,183 (GRCm39)	W809R	probably damaging	Het
Col2a1	C	T	15: 97,896,469 (GRCm39)	G60D	unknown	Het
Coro7	T	A	16: 4,497,475 (GRCm39)	M1L	probably damaging	Het
Cracdl	A	T	1: 37,670,982 (GRCm39)	F97Y	probably damaging	Het
Dhx40	T	C	11: 86,688,569 (GRCm39)	I285V	probably benign	Het
Dop1a	T	C	9: 86,432,222 (GRCm39)		probably null	Het
Enox1	A	T	14: 77,848,764 (GRCm39)	R358S	probably damaging	Het
Ep400	A	G	5: 110,815,990 (GRCm39)	V2724A	probably damaging	Het
Fam221a	A	C	6: 49,355,432 (GRCm39)	Q178P	probably damaging	Het
Fcho1	A	C	8: 72,163,141 (GRCm39)		probably null	Het
Fndc1	A	T	17: 7,988,567 (GRCm39)	V1165D	unknown	Het
Gal3st2b	A	T	1: 93,868,341 (GRCm39)	N189Y	possibly damaging	Het
Ghr	T	A	15: 3,349,966 (GRCm39)	D404V	probably damaging	Het
Glis3	A	T	19: 28,508,919 (GRCm39)	V355D	probably damaging	Het
Gpr12	A	C	5: 146,520,349 (GRCm39)	V32G	possibly damaging	Het
Gspt1	T	A	16: 11,040,525 (GRCm39)	L593F	probably damaging	Het
H2-Q7	A	T	17: 35,659,007 (GRCm39)	T153S	probably damaging	Het
Hars2	A	G	18: 36,921,009 (GRCm39)	I194V	probably damaging	Het
Hdac9	T	A	12: 34,479,548 (GRCm39)	T202S	possibly damaging	Het
Hoxd13	T	C	2: 74,499,368 (GRCm39)	Y239H	probably damaging	Het
Insm2	C	T	12: 55,646,621 (GRCm39)	Q122*	probably null	Het
Insyn2b	T	A	11: 34,352,677 (GRCm39)	C240S	possibly damaging	Het
Ip6k1	T	A	9: 107,922,651 (GRCm39)		probably null	Het
Ippk	T	C	13: 49,615,219 (GRCm39)	V534A	probably damaging	Het
Itch	T	G	2: 155,051,914 (GRCm39)	F611C	probably damaging	Het
Itga1	A	T	13: 115,104,776 (GRCm39)	N1083K	probably damaging	Het
Itgae	A	C	11: 73,006,969 (GRCm39)	D405A	probably damaging	Het
Kif18a	T	C	2: 109,125,347 (GRCm39)	S255P	probably damaging	Het
Klhl24	C	G	16: 19,926,231 (GRCm39)	T253R	probably benign	Het
Krt81	T	A	15: 101,358,609 (GRCm39)	T307S	possibly damaging	Het
Lbr	A	T	1: 181,656,354 (GRCm39)	W265R	probably damaging	Het
Lgals3bp	T	C	11: 118,283,999 (GRCm39)	T527A	probably benign	Het
Lzts1	A	C	8: 69,593,397 (GRCm39)	V70G	probably damaging	Het
Map3k6	C	T	4: 132,979,023 (GRCm39)	P1154S	probably benign	Het
Masp1	T	C	16: 23,271,205 (GRCm39)	D681G	probably benign	Het
Mdga2	T	C	12: 66,533,526 (GRCm39)	N948D	probably benign	Het
Mettl4	A	T	17: 95,041,061 (GRCm39)	F364L	probably damaging	Het
Mosmo	T	C	7: 120,277,055 (GRCm39)	I23T	probably benign	Het
Mtg1	G	A	7: 139,723,657 (GRCm39)	V96I	probably benign	Het
Myh11	T	A	16: 14,036,803 (GRCm39)	R966S	possibly damaging	Het
Ncapg2	A	G	12: 116,388,337 (GRCm39)		probably null	Het
Nid1	G	A	13: 13,683,353 (GRCm39)	V1144I	probably benign	Het
Or4a77	T	C	2: 89,486,910 (GRCm39)	I292V	probably benign	Het
Or52a33	A	T	7: 103,289,167 (GRCm39)	M60K	probably damaging	Het
Or55b4	C	A	7: 102,133,979 (GRCm39)	C116F	possibly damaging	Het
Oscar	T	G	7: 3,614,238 (GRCm39)	Y167S	probably damaging	Het
Pa2g4	T	C	10: 128,396,559 (GRCm39)	T200A	probably benign	Het
Pcdh7	A	G	5: 57,877,126 (GRCm39)	D227G	probably benign	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Plce1	G	A	19: 38,747,384 (GRCm39)	G1702R	probably damaging	Het
Plxna2	C	A	1: 194,476,212 (GRCm39)	T1144K	possibly damaging	Het
Prl8a8	G	A	13: 27,695,450 (GRCm39)	T99I	probably benign	Het
Prr29	C	A	11: 106,267,085 (GRCm39)	H83Q	probably damaging	Het
Raly	T	A	2: 154,701,664 (GRCm39)	I108N	possibly damaging	Het
Ranbp9	A	T	13: 43,573,098 (GRCm39)	S475R	probably benign	Het
Rogdi	C	A	16: 4,831,362 (GRCm39)		probably benign	Het
Rorc	C	T	3: 94,280,214 (GRCm39)	Q6*	probably null	Het
Sacs	T	C	14: 61,449,945 (GRCm39)	L3997S	probably damaging	Het
Scn2a	A	T	2: 65,594,950 (GRCm39)	Y1933F	probably benign	Het
Sipa1l1	A	G	12: 82,388,180 (GRCm39)	I135M	probably damaging	Het
Slc26a3	C	A	12: 31,500,934 (GRCm39)	Q224K	probably damaging	Het
Sobp	G	T	10: 42,897,436 (GRCm39)	N716K	probably benign	Het
Spata16	A	G	3: 26,981,483 (GRCm39)	D513G	probably damaging	Het
Spata31h1	G	A	10: 82,125,777 (GRCm39)	T2411I	probably damaging	Het
Speer4a3	A	T	5: 26,154,842 (GRCm39)	S253T	possibly damaging	Het
Stac	T	C	9: 111,401,394 (GRCm39)	R351G	possibly damaging	Het
Tecta	T	A	9: 42,306,237 (GRCm39)	T64S	probably benign	Het
Tert	G	A	13: 73,776,529 (GRCm39)	V427M	probably damaging	Het
Tex15	G	A	8: 34,060,748 (GRCm39)	M333I	probably benign	Het
Tmbim4	A	T	10: 120,056,664 (GRCm39)	Q72L	probably benign	Het
Trav9n-4	T	C	14: 53,532,256 (GRCm39)	S37P	probably benign	Het
Trpv5	A	T	6: 41,652,894 (GRCm39)	M93K	possibly damaging	Het
Ulk4	T	C	9: 121,087,876 (GRCm39)	E272G	probably benign	Het
Ulk4	T	C	9: 121,095,583 (GRCm39)	T79A	probably benign	Het
Upb1	A	G	10: 75,248,602 (GRCm39)	N41D	probably benign	Het
Wls	A	T	3: 159,639,965 (GRCm39)	Y532F	probably damaging	Het
Zdhhc5	G	A	2: 84,545,355 (GRCm39)		probably benign	Het
Zfp109	T	C	7: 23,928,785 (GRCm39)	D216G	probably benign	Het
Zfp473	G	A	7: 44,381,798 (GRCm39)	A845V	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
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
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'- AGCAACCCGAGAACTGTTC -3'
(R):5'- TTCCTTCAGGCCATCAGGAAG -3'

Sequencing Primer
(F):5'- AGTGTAGCACTAACCTGCCTG -3'
(R):5'- ATCAGGAAGGCCCTCTGC -3'

Posted On

2019-05-13