Mutagenetix > Incidental Mutation

Incidental Mutation 'R0109:Sik2'

17471

Institutional Source

Beutler Lab

Gene Symbol

Sik2

Ensembl Gene

ENSMUSG00000037112

Gene Name

salt inducible kinase 2

Synonyms

G630080D20Rik, Snf1lk2

MMRRC Submission

038395-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.655) question?

Stock #

R0109 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

50804101-50920373 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50810775 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 447 (M447T)

Ref Sequence

ENSEMBL: ENSMUSP00000135376 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041375] [ENSMUST00000176491] [ENSMUST00000176663] [ENSMUST00000176824]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041375
AA Change: M447T

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000038761
Gene: ENSMUSG00000037112
AA Change: M447T

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

possibly damaging
Transcript: ENSMUST00000176491
AA Change: M447T

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000134954
Gene: ENSMUSG00000037112
AA Change: M447T

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

possibly damaging
Transcript: ENSMUST00000176663
AA Change: M447T

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000135376
Gene: ENSMUSG00000037112
AA Change: M447T

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: ENSMUST00000176824
AA Change: M447T

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000134936
Gene: ENSMUSG00000037112
AA Change: M447T

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

0.0737

Coding Region Coverage

1x: 90.6%
3x: 88.5%
10x: 83.8%
20x: 77.5%

Validation Efficiency

90% (95/106)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	A	6: 121,636,262 (GRCm39)	H710Q	probably benign	Het
Abca14	A	T	7: 119,917,985 (GRCm39)	K1496*	probably null	Het
Anapc1	C	A	2: 128,476,613 (GRCm39)	R1335L	probably damaging	Het
Arhgef10l	A	T	4: 140,305,605 (GRCm39)	S203T	probably benign	Het
Astn1	C	T	1: 158,491,674 (GRCm39)	T41I	possibly damaging	Het
Atrnl1	T	A	19: 57,743,949 (GRCm39)	Y1184N	possibly damaging	Het
Avil	A	G	10: 126,849,513 (GRCm39)	N603S	probably benign	Het
Brca1	T	C	11: 101,421,916 (GRCm39)	D149G	possibly damaging	Het
Car14	C	A	3: 95,806,763 (GRCm39)	A234S	probably benign	Het
Cep164	A	C	9: 45,682,885 (GRCm39)	L935R	probably damaging	Het
Cps1	T	C	1: 67,268,577 (GRCm39)	V1435A	possibly damaging	Het
Csmd2	T	G	4: 128,438,536 (GRCm39)	S3038R	probably benign	Het
Cyp2j6	A	T	4: 96,406,394 (GRCm39)	I459N	probably damaging	Het
Cyth1	T	C	11: 118,073,132 (GRCm39)	E242G	probably damaging	Het
Dclk3	T	G	9: 111,296,738 (GRCm39)	L94R	possibly damaging	Het
Disp2	T	C	2: 118,622,297 (GRCm39)	S1010P	probably damaging	Het
Dlec1	G	A	9: 118,934,892 (GRCm39)	R145H	probably damaging	Het
Dsg3	T	C	18: 20,673,191 (GRCm39)	V954A	probably damaging	Het
Dync2h1	T	A	9: 7,111,487 (GRCm39)	D309V	probably damaging	Het
Fam13b	A	G	18: 34,584,361 (GRCm39)	I601T	probably benign	Het
Fgd5	T	A	6: 91,965,216 (GRCm39)	M325K	possibly damaging	Het
Frmpd1	A	T	4: 45,279,340 (GRCm39)	E688D	probably benign	Het
Gabrb1	C	T	5: 72,279,289 (GRCm39)		probably benign	Het
Gm6590	A	T	6: 130,461,869 (GRCm39)		noncoding transcript	Het
Gse1	T	A	8: 121,294,524 (GRCm39)	S284T	probably damaging	Het
Ipo13	C	T	4: 117,762,213 (GRCm39)	R387Q	possibly damaging	Het
Kctd16	A	G	18: 40,392,204 (GRCm39)	E264G	probably benign	Het
Krt73	A	T	15: 101,704,830 (GRCm39)	L352*	probably null	Het
Mapk15	A	T	15: 75,867,926 (GRCm39)	K153*	probably null	Het
Mcemp1	C	A	8: 3,717,055 (GRCm39)	Y65*	probably null	Het
Mcoln2	C	G	3: 145,881,473 (GRCm39)	R210G	probably damaging	Het
Miox	G	A	15: 89,219,784 (GRCm39)	V91I	probably benign	Het
Myh7b	A	G	2: 155,453,594 (GRCm39)	E6G	possibly damaging	Het
Ncapg	A	G	5: 45,851,090 (GRCm39)		probably null	Het
Nfyb	G	A	10: 82,590,836 (GRCm39)	A65V	possibly damaging	Het
Or4a69	A	G	2: 89,313,147 (GRCm39)	F111L	probably benign	Het
Or52d1	T	C	7: 103,755,812 (GRCm39)	S109P	probably damaging	Het
Or5b94	C	A	19: 12,652,224 (GRCm39)	F218L	probably benign	Het
Osbp2	A	C	11: 3,661,791 (GRCm39)	S754A	probably benign	Het
Pard3	C	T	8: 128,125,147 (GRCm39)	R712C	probably damaging	Het
Parp9	T	C	16: 35,768,711 (GRCm39)	I64T	probably damaging	Het
Pcm1	T	A	8: 41,710,974 (GRCm39)	H81Q	possibly damaging	Het
Pcnt	G	A	10: 76,225,030 (GRCm39)	P1825S	probably benign	Het
Pfkfb4	T	C	9: 108,827,957 (GRCm39)	V43A	probably benign	Het
Pgap1	A	T	1: 54,533,984 (GRCm39)	V643E	probably damaging	Het
Pip5k1a	T	C	3: 94,972,753 (GRCm39)	T433A	probably benign	Het
Pip5k1b	T	A	19: 24,356,411 (GRCm39)	M176L	probably benign	Het
Polg2	T	C	11: 106,667,958 (GRCm39)		probably benign	Het
Pomp	T	A	5: 147,812,323 (GRCm39)	H136Q	probably benign	Het
Ppfia4	A	T	1: 134,251,955 (GRCm39)		probably null	Het
Prdx2	G	A	8: 85,696,880 (GRCm39)	G4S	probably benign	Het
Rbm28	C	T	6: 29,160,104 (GRCm39)	G70D	probably benign	Het
Rdh10	T	A	1: 16,176,489 (GRCm39)	I83N	probably damaging	Het
Rin3	A	G	12: 102,279,340 (GRCm39)	I50V	possibly damaging	Het
Rnf122	T	C	8: 31,614,877 (GRCm39)		probably benign	Het
Sla2	A	G	2: 156,725,507 (GRCm39)		probably null	Het
Slc51a	T	A	16: 32,296,425 (GRCm39)	I192L	probably benign	Het
Sorcs1	T	C	19: 50,367,329 (GRCm39)		probably benign	Het
Spata16	T	A	3: 26,967,416 (GRCm39)	F389I	probably damaging	Het
Srebf1	G	A	11: 60,092,630 (GRCm39)	A793V	probably benign	Het
Tbc1d9b	T	C	11: 50,049,261 (GRCm39)	V736A	probably benign	Het
Tbx15	C	A	3: 99,259,182 (GRCm39)	T351N	possibly damaging	Het
Tep1	A	G	14: 51,089,373 (GRCm39)		probably null	Het
Tmed11	T	A	5: 108,925,278 (GRCm39)	D178V	probably damaging	Het
Traf7	A	G	17: 24,732,900 (GRCm39)	F110L	probably benign	Het
Ubqlnl	C	T	7: 103,799,399 (GRCm39)	V33M	probably damaging	Het
Vcan	A	T	13: 89,826,192 (GRCm39)		probably null	Het
Vmn1r194	A	G	13: 22,429,217 (GRCm39)	Y278C	probably damaging	Het
Vmn1r46	T	C	6: 89,954,044 (GRCm39)	F298L	probably benign	Het
Vps13b	A	G	15: 35,572,265 (GRCm39)	T961A	probably benign	Het
Wdr48	G	A	9: 119,747,634 (GRCm39)		probably benign	Het
Wwp1	G	A	4: 19,641,725 (GRCm39)		probably benign	Het
Zfp1001	A	T	2: 150,165,761 (GRCm39)		probably benign	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp839	G	A	12: 110,827,308 (GRCm39)	E400K	possibly damaging	Het

Other mutations in Sik2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01366:Sik2	APN	9	50,818,763 (GRCm39)	missense	probably damaging	0.96
IGL01552:Sik2	APN	9	50,828,822 (GRCm39)	splice site	probably benign
IGL02175:Sik2	APN	9	50,806,909 (GRCm39)	nonsense	probably null
IGL02355:Sik2	APN	9	50,828,903 (GRCm39)	nonsense	probably null
IGL02362:Sik2	APN	9	50,828,903 (GRCm39)	nonsense	probably null
IGL03197:Sik2	APN	9	50,807,073 (GRCm39)	missense	probably damaging	1.00
R0066:Sik2	UTSW	9	50,909,833 (GRCm39)	missense	probably benign	0.18
R0066:Sik2	UTSW	9	50,909,833 (GRCm39)	missense	probably benign	0.18
R0109:Sik2	UTSW	9	50,810,775 (GRCm39)	missense	possibly damaging	0.50
R0416:Sik2	UTSW	9	50,906,932 (GRCm39)	missense	probably damaging	1.00
R0648:Sik2	UTSW	9	50,810,045 (GRCm39)	missense	probably benign	0.26
R0714:Sik2	UTSW	9	50,818,736 (GRCm39)	missense	probably benign	0.13
R1472:Sik2	UTSW	9	50,920,111 (GRCm39)	missense	probably damaging	1.00
R1592:Sik2	UTSW	9	50,906,971 (GRCm39)	missense	probably damaging	1.00
R1899:Sik2	UTSW	9	50,906,974 (GRCm39)	splice site	probably benign
R2032:Sik2	UTSW	9	50,906,947 (GRCm39)	missense	probably damaging	1.00
R2079:Sik2	UTSW	9	50,818,706 (GRCm39)	critical splice donor site	probably null
R2853:Sik2	UTSW	9	50,809,597 (GRCm39)	missense	probably damaging	1.00
R4085:Sik2	UTSW	9	50,846,685 (GRCm39)	intron	probably benign
R4567:Sik2	UTSW	9	50,909,876 (GRCm39)	missense	probably damaging	1.00
R5098:Sik2	UTSW	9	50,906,891 (GRCm39)	intron	probably benign
R5176:Sik2	UTSW	9	50,810,703 (GRCm39)	missense	probably benign	0.02
R5640:Sik2	UTSW	9	50,826,806 (GRCm39)	missense	possibly damaging	0.93
R5682:Sik2	UTSW	9	50,828,382 (GRCm39)	missense	probably damaging	1.00
R5779:Sik2	UTSW	9	50,807,145 (GRCm39)	missense	probably benign
R5935:Sik2	UTSW	9	50,828,431 (GRCm39)	missense	probably damaging	1.00
R5997:Sik2	UTSW	9	50,806,642 (GRCm39)	critical splice donor site	probably null
R6664:Sik2	UTSW	9	50,846,757 (GRCm39)	missense	probably damaging	1.00
R6787:Sik2	UTSW	9	50,909,834 (GRCm39)	missense	possibly damaging	0.67
R6980:Sik2	UTSW	9	50,808,755 (GRCm39)	missense	probably benign	0.00
R7057:Sik2	UTSW	9	50,909,861 (GRCm39)	missense	probably damaging	1.00
R7064:Sik2	UTSW	9	50,818,720 (GRCm39)	missense	probably damaging	0.99
R7165:Sik2	UTSW	9	50,828,397 (GRCm39)	missense	probably damaging	1.00
R7892:Sik2	UTSW	9	50,920,132 (GRCm39)	missense	probably damaging	0.98
R8252:Sik2	UTSW	9	50,828,415 (GRCm39)	missense	possibly damaging	0.89
R8893:Sik2	UTSW	9	50,810,026 (GRCm39)	missense	probably damaging	1.00
R8987:Sik2	UTSW	9	50,806,647 (GRCm39)	missense	probably benign
R9747:Sik2	UTSW	9	50,810,058 (GRCm39)	missense	possibly damaging	0.95
R9753:Sik2	UTSW	9	50,807,139 (GRCm39)	missense	probably damaging	0.96

Posted On

2013-01-31