Mutagenetix > Incidental Mutations

Incidental Mutation 'R5779:Sik2'

446879

Institutional Source

Beutler Lab

Gene Symbol

Sik2

Ensembl Gene

ENSMUSG00000037112

Gene Name

salt inducible kinase 2

Synonyms

Snf1lk2

MMRRC Submission

043377-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.804) question?

Stock #

R5779 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50892801-51009073 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50895845 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 755 (H755R)

Ref Sequence

ENSEMBL: ENSMUSP00000134936 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034560] [ENSMUST00000041375] [ENSMUST00000174628] [ENSMUST00000176349] [ENSMUST00000176491] [ENSMUST00000176663] [ENSMUST00000176798] [ENSMUST00000176824]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000034560

SMART Domains

Protein: ENSMUSP00000034560
Gene: ENSMUSG00000032058

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
Pfam:HEAT	178	208	2.2e-6	PFAM
Pfam:HEAT_EZ	182	243	9.9e-6	PFAM
Pfam:HEAT	295	325	5.9e-6	PFAM
Pfam:HEAT_2	378	479	1.1e-10	PFAM
Pfam:HEAT_2	495	596	5.1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000041375
AA Change: H755R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000038761
Gene: ENSMUSG00000037112
AA Change: H755R

Domain	Start	End	E-Value	Type
S_TKc	20	271	4.63e-101	SMART
low complexity region	454	464	N/A	INTRINSIC
low complexity region	643	664	N/A	INTRINSIC
low complexity region	708	731	N/A	INTRINSIC
low complexity region	800	842	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174628

SMART Domains

Protein: ENSMUSP00000133404
Gene: ENSMUSG00000032058

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
Pfam:HEAT	178	208	4.6e-6	PFAM
Pfam:HEAT	217	247	4.5e-5	PFAM
Pfam:HEAT	295	325	4.3e-6	PFAM
Pfam:HEAT_2	378	479	1.7e-11	PFAM
low complexity region	643	655	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176349

SMART Domains

Protein: ENSMUSP00000135758
Gene: ENSMUSG00000032058

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
Pfam:HEAT	114	144	2e-6	PFAM
Pfam:HEAT_EZ	116	179	8.7e-6	PFAM
Pfam:HEAT	153	183	5.5e-5	PFAM
Pfam:HEAT	231	261	5.3e-6	PFAM
Pfam:HEAT_2	314	415	9.3e-11	PFAM
Pfam:HEAT_2	430	532	4.4e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176491
AA Change: H755R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000134954
Gene: ENSMUSG00000037112
AA Change: H755R

Domain	Start	End	E-Value	Type
S_TKc	20	271	4.63e-101	SMART
low complexity region	454	464	N/A	INTRINSIC
low complexity region	643	664	N/A	INTRINSIC
low complexity region	708	731	N/A	INTRINSIC
low complexity region	800	842	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176663
AA Change: H755R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000135376
Gene: ENSMUSG00000037112
AA Change: H755R

Domain	Start	End	E-Value	Type
S_TKc	20	271	4.63e-101	SMART
low complexity region	454	464	N/A	INTRINSIC
low complexity region	643	664	N/A	INTRINSIC
low complexity region	708	731	N/A	INTRINSIC
low complexity region	800	842	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176798

SMART Domains

Protein: ENSMUSP00000135525
Gene: ENSMUSG00000032058

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
Pfam:HEAT	178	208	2.3e-6	PFAM
Pfam:HEAT_EZ	182	243	1e-5	PFAM
Pfam:HEAT	295	325	6e-6	PFAM
Pfam:HEAT_2	378	479	1.1e-10	PFAM
Pfam:HEAT_2	495	596	5.2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176824
AA Change: H755R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000134936
Gene: ENSMUSG00000037112
AA Change: H755R

Domain	Start	End	E-Value	Type
S_TKc	20	271	4.63e-101	SMART
low complexity region	454	464	N/A	INTRINSIC
low complexity region	643	664	N/A	INTRINSIC
low complexity region	708	731	N/A	INTRINSIC
low complexity region	800	842	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

88% (52/59)

MGI Phenotype

PHENOTYPE: Mice heterozygous for a knock-out allele exhibit darkened hair color in an agouti background. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	A	T	17: 56,881,061	N190Y	probably benign	Het
2310035C23Rik	T	G	1: 105,687,347	N246K	probably damaging	Het
Abca6	T	C	11: 110,184,670	M1332V	probably benign	Het
Afg3l2	T	C	18: 67,440,443	K132R	probably null	Het
Arap3	T	C	18: 37,984,365	D886G	probably damaging	Het
B3gntl1	G	T	11: 121,651,676		probably null	Het
Cdk12	T	A	11: 98,219,074	S640R	probably benign	Het
Ceacam12	C	A	7: 18,069,154	P162T	probably benign	Het
Chrna5	C	A	9: 54,998,104	H67N	probably benign	Het
Copb1	T	A	7: 114,219,572	D837V	probably damaging	Het
D11Wsu47e	A	G	11: 113,687,992	D71G	probably benign	Het
Dcaf5	C	T	12: 80,338,832	R840H	probably benign	Het
Ect2l	T	A	10: 18,163,438	Q324L	probably benign	Het
Eef1e1	T	C	13: 38,646,273	N141S	probably damaging	Het
Eif2ak4	A	C	2: 118,412,963	N208T	possibly damaging	Het
Ext1	A	G	15: 53,344,553	Y271H	probably damaging	Het
Fam173a	A	G	17: 25,790,657	V194A	probably benign	Het
Fbxo5	G	A	10: 5,800,303	R323C	possibly damaging	Het
Fpr-rs3	C	A	17: 20,624,226	A218S	possibly damaging	Het
Gm20499	G	A	5: 114,817,021		probably benign	Het
Gucy1b2	C	A	14: 62,414,301	L400F	possibly damaging	Het
Hgd	T	A	16: 37,593,371	L24H	probably benign	Het
Hmx3	C	A	7: 131,544,328	S255*	probably null	Het
Ifrd1	A	T	12: 40,203,370	F448I	probably damaging	Het
Igfn1	T	A	1: 135,966,840	E1996V	probably benign	Het
Itpr1	G	A	6: 108,352,143	G173R	probably damaging	Het
Kbtbd8	T	C	6: 95,118,534	S26P	probably benign	Het
Kctd17	A	T	15: 78,437,133		probably benign	Het
Matr3	T	C	18: 35,584,522	S258P	possibly damaging	Het
Mpp4	G	A	1: 59,151,666	A90V	probably benign	Het
Mrpl20	G	A	4: 155,806,921	R34Q	probably damaging	Het
Neb	A	T	2: 52,245,301	S3266T	probably damaging	Het
Nipal3	A	G	4: 135,452,339		probably benign	Het
Npas2	A	T	1: 39,287,571	T46S	possibly damaging	Het
Nsd3	G	T	8: 25,682,669	E815*	probably null	Het
Nup98	C	A	7: 102,152,361	V786L	probably benign	Het
Olfr730	A	T	14: 50,186,746	M157K	possibly damaging	Het
Pcdhb3	T	C	18: 37,301,467	V162A	probably benign	Het
Pcgf2	G	A	11: 97,690,291	P58L	probably damaging	Het
Penk	A	G	4: 4,134,318	F110L	probably damaging	Het
Scfd1	A	G	12: 51,431,529	N508S	probably benign	Het
Scn2a	T	C	2: 65,764,483	V1892A	probably benign	Het
Sema6a	G	A	18: 47,248,826	R885C	probably damaging	Het
Slc36a3	A	T	11: 55,135,268	Y241*	probably null	Het
Smg5	T	C	3: 88,351,618		probably benign	Het
Spag9	A	G	11: 94,114,253	T1049A	probably benign	Het
Tas2r103	T	C	6: 133,036,945	M53V	probably benign	Het
Tpr	C	T	1: 150,423,541	A1090V	probably damaging	Het
Traf5	T	A	1: 191,997,672	R473W	probably damaging	Het
Ush2a	T	C	1: 188,443,510		probably null	Het
Vit	A	G	17: 78,546,426	T34A	probably benign	Het

Other mutations in Sik2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01366:Sik2	APN	9	50907463	missense	probably damaging	0.96
IGL01552:Sik2	APN	9	50917522	splice site	probably benign
IGL02175:Sik2	APN	9	50895609	nonsense	probably null
IGL02355:Sik2	APN	9	50917603	nonsense	probably null
IGL02362:Sik2	APN	9	50917603	nonsense	probably null
IGL03197:Sik2	APN	9	50895773	missense	probably damaging	1.00
R0066:Sik2	UTSW	9	50998533	missense	probably benign	0.18
R0066:Sik2	UTSW	9	50998533	missense	probably benign	0.18
R0109:Sik2	UTSW	9	50899475	missense	possibly damaging	0.50
R0109:Sik2	UTSW	9	50899475	missense	possibly damaging	0.50
R0416:Sik2	UTSW	9	50995632	missense	probably damaging	1.00
R0648:Sik2	UTSW	9	50898745	missense	probably benign	0.26
R0714:Sik2	UTSW	9	50907436	missense	probably benign	0.13
R1472:Sik2	UTSW	9	51008811	missense	probably damaging	1.00
R1592:Sik2	UTSW	9	50995671	missense	probably damaging	1.00
R1899:Sik2	UTSW	9	50995674	splice site	probably benign
R2032:Sik2	UTSW	9	50995647	missense	probably damaging	1.00
R2079:Sik2	UTSW	9	50907406	critical splice donor site	probably null
R2853:Sik2	UTSW	9	50898297	missense	probably damaging	1.00
R4085:Sik2	UTSW	9	50935385	intron	probably benign
R4567:Sik2	UTSW	9	50998576	missense	probably damaging	1.00
R5098:Sik2	UTSW	9	50995591	intron	probably benign
R5176:Sik2	UTSW	9	50899403	missense	probably benign	0.02
R5640:Sik2	UTSW	9	50915506	missense	possibly damaging	0.93
R5682:Sik2	UTSW	9	50917082	missense	probably damaging	1.00
R5935:Sik2	UTSW	9	50917131	missense	probably damaging	1.00
R5997:Sik2	UTSW	9	50895342	critical splice donor site	probably null
R6664:Sik2	UTSW	9	50935457	missense	probably damaging	1.00
R6787:Sik2	UTSW	9	50998534	missense	possibly damaging	0.67
R6980:Sik2	UTSW	9	50897455	missense	probably benign	0.00
R7057:Sik2	UTSW	9	50998561	missense	probably damaging	1.00
R7064:Sik2	UTSW	9	50907420	missense	probably damaging	0.99
R7165:Sik2	UTSW	9	50917097	missense	probably damaging	1.00
R7892:Sik2	UTSW	9	51008832	missense	probably damaging	0.98
R8252:Sik2	UTSW	9	50917115	missense	possibly damaging	0.89
R8893:Sik2	UTSW	9	50898726	missense	probably damaging	1.00
R8987:Sik2	UTSW	9	50895347	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TAAGGAGGTTGGAGCAGCTC -3'
(R):5'- TAGGAAACTGGAGTTCATGCC -3'

Sequencing Primer
(F):5'- GCTGCAATTGTGAGGGTAAG -3'
(R):5'- AAACTGGAGTTCATGCCTGGTATTG -3'

Posted On

2016-12-15