Mutagenetix > Incidental Mutation

Incidental Mutation 'R6980:Sik2'

543778

Institutional Source

Beutler Lab

Gene Symbol

Sik2

Ensembl Gene

ENSMUSG00000037112

Gene Name

salt inducible kinase 2

Synonyms

G630080D20Rik, Snf1lk2

MMRRC Submission

045088-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.719) question?

Stock #

R6980 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

50804101-50920373 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50808755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 658 (V658A)

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: V658A

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

SMART Domains

Protein: ENSMUSP00000038761
Gene: ENSMUSG00000037112
AA Change: V658A

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: V658A

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

SMART Domains

Protein: ENSMUSP00000134954
Gene: ENSMUSG00000037112
AA Change: V658A

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: V658A

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

SMART Domains

Protein: ENSMUSP00000135376
Gene: ENSMUSG00000037112
AA Change: V658A

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: V658A

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

SMART Domains

Protein: ENSMUSP00000134936
Gene: ENSMUSG00000037112
AA Change: V658A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	C	A	2: 25,330,878 (GRCm39)	R1189S	possibly damaging	Het
Abcf2	T	C	5: 24,770,970 (GRCm39)	Q594R	probably benign	Het
Abhd18	G	A	3: 40,888,215 (GRCm39)	S353N	probably benign	Het
Adrb1	G	T	19: 56,712,046 (GRCm39)	A415S	probably benign	Het
Art2b	T	C	7: 101,229,680 (GRCm39)	N73S	probably benign	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	CACTGGTTCTGTGGT	CACTGGTTCTGTGGTTACTGGTTCTGTGGT	3: 95,795,480 (GRCm39)		probably benign	Het
BC028528	ACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC	ACTGGTTCTGTGGTCTCTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC	3: 95,795,451 (GRCm39)		probably benign	Het
Cacna1a	A	G	8: 85,338,914 (GRCm39)	M1753V	possibly damaging	Het
Cbx8	A	T	11: 118,930,287 (GRCm39)	I102N	possibly damaging	Het
Ccdc178	T	A	18: 22,238,620 (GRCm39)	E332D	probably benign	Het
Cdhr17	T	A	5: 17,031,944 (GRCm39)	V533D	possibly damaging	Het
Cfap74	G	A	4: 155,550,809 (GRCm39)		probably benign	Het
Chat	A	T	14: 32,146,111 (GRCm39)	M354K	probably benign	Het
Cmas	A	G	6: 142,702,526 (GRCm39)	T10A	probably damaging	Het
Cyb561d1	A	T	3: 108,107,475 (GRCm39)	L51H	probably benign	Het
D030056L22Rik	A	T	19: 18,694,629 (GRCm39)	N128I	probably damaging	Het
D130043K22Rik	G	T	13: 25,048,764 (GRCm39)	A423S	probably damaging	Het
Dnah14	T	C	1: 181,475,795 (GRCm39)	I1349T	probably benign	Het
Dnajb3	T	G	1: 88,132,736 (GRCm39)	D222A	probably damaging	Het
Dtx1	T	C	5: 120,819,422 (GRCm39)	E592G	probably damaging	Het
Dzank1	C	T	2: 144,332,056 (GRCm39)	G427R	possibly damaging	Het
E130308A19Rik	A	C	4: 59,719,991 (GRCm39)	K508Q	probably damaging	Het
Eif4e1b	T	A	13: 54,931,916 (GRCm39)		probably null	Het
Ell2	A	G	13: 75,904,495 (GRCm39)	M159V	probably null	Het
Eml4	G	A	17: 83,758,446 (GRCm39)	V377I	probably benign	Het
Fryl	A	T	5: 73,207,773 (GRCm39)	S2466T	probably benign	Het
Gfpt1	C	A	6: 87,054,071 (GRCm39)	T426K	probably damaging	Het
Gm49355	T	C	14: 12,307,173 (GRCm38)		probably benign	Het
Gm5114	T	C	7: 39,058,624 (GRCm39)	I332V	probably benign	Het
Gpr15	T	A	16: 58,539,105 (GRCm39)		probably benign	Het
Gpr179	T	C	11: 97,225,684 (GRCm39)	E2157G	probably benign	Het
Gramd4	A	G	15: 86,016,170 (GRCm39)	N482S	probably benign	Het
Hfm1	A	T	5: 107,028,343 (GRCm39)	I829K	probably benign	Het
Hydin	A	T	8: 111,139,916 (GRCm39)	E728D	possibly damaging	Het
Ifngr2	T	A	16: 91,356,895 (GRCm39)	V143E	probably damaging	Het
Ift172	T	C	5: 31,414,730 (GRCm39)	D1390G	probably benign	Het
Kdf1	A	T	4: 133,256,138 (GRCm39)	D285V	probably damaging	Het
Mast4	C	T	13: 102,941,155 (GRCm39)	V301I	probably damaging	Het
Mdn1	G	A	4: 32,726,942 (GRCm39)		probably null	Het
Megf11	A	G	9: 64,613,132 (GRCm39)	E1016G	probably damaging	Het
Mixl1	G	A	1: 180,524,453 (GRCm39)	A42V	possibly damaging	Het
Mpp2	A	G	11: 101,950,154 (GRCm39)	W567R	probably damaging	Het
Mrgpra6	A	G	7: 46,838,697 (GRCm39)	L136P	probably damaging	Het
Mroh7	T	A	4: 106,557,434 (GRCm39)	I759L	probably benign	Het
Nrxn2	A	G	19: 6,500,609 (GRCm39)	D277G	probably benign	Het
Nup210l	A	T	3: 90,027,234 (GRCm39)	K205N	probably benign	Het
Or4g17	A	G	2: 111,209,620 (GRCm39)	I92V	possibly damaging	Het
Or4p4b-ps1	A	G	2: 88,453,939 (GRCm39)	*97W	probably null	Het
Or52e19b	T	C	7: 103,032,303 (GRCm39)	E302G	probably benign	Het
Or5al6	A	T	2: 85,976,681 (GRCm39)	Y132*	probably null	Het
Oxnad1	C	T	14: 31,807,576 (GRCm39)		probably benign	Het
Pamr1	C	T	2: 102,472,549 (GRCm39)	T616I	probably benign	Het
Pcdhgb5	C	T	18: 37,866,592 (GRCm39)	H796Y	possibly damaging	Het
Pdlim7	G	T	13: 55,656,041 (GRCm39)	D126E	probably benign	Het
Pfdn2	C	T	1: 171,185,465 (GRCm39)		probably benign	Het
Piezo2	T	A	18: 63,216,032 (GRCm39)		probably null	Het
Pms2	A	T	5: 143,848,842 (GRCm39)	I43L	probably benign	Het
Prex2	T	A	1: 11,232,487 (GRCm39)	S851R	probably benign	Het
Ptpn4	T	A	1: 119,671,151 (GRCm39)	E202D	possibly damaging	Het
Rnf40	T	A	7: 127,193,849 (GRCm39)	V455E	probably damaging	Het
Rp1l1	A	G	14: 64,266,169 (GRCm39)	N585S	probably benign	Het
Rrp12	A	G	19: 41,878,582 (GRCm39)	S188P	probably damaging	Het
Rsbn1l	T	A	5: 21,101,482 (GRCm39)	H686L	probably benign	Het
Runx2	C	T	17: 45,046,203 (GRCm39)	V107I	possibly damaging	Het
Rusc2	A	G	4: 43,422,846 (GRCm39)	I994M	probably benign	Het
Ryr1	T	A	7: 28,808,812 (GRCm39)	D420V	probably benign	Het
Sash1	T	C	10: 8,605,612 (GRCm39)	Q926R	probably benign	Het
Scgb3a2	T	A	18: 43,897,499 (GRCm39)	I6N	probably damaging	Het
Sdc3	T	A	4: 130,544,233 (GRCm39)		probably benign	Het
Slc25a39	A	G	11: 102,296,601 (GRCm39)	V81A	probably damaging	Het
Snai2	T	A	16: 14,526,113 (GRCm39)	S255T	possibly damaging	Het
Sorbs1	A	T	19: 40,316,060 (GRCm39)	Y371*	probably null	Het
Spata31d1b	A	T	13: 59,863,236 (GRCm39)	H128L	probably benign	Het
Spdl1	A	T	11: 34,721,706 (GRCm39)	M1K	probably null	Het
Tgm3	T	A	2: 129,868,697 (GRCm39)	N211K	probably benign	Het
Tmem116	T	C	5: 121,606,050 (GRCm39)		probably null	Het
Tmem132e	T	A	11: 82,329,212 (GRCm39)		probably null	Het
Tmem53	T	C	4: 117,125,705 (GRCm39)	C251R	probably damaging	Het
Trcg1	A	C	9: 57,152,856 (GRCm39)	D551A	probably damaging	Het
Trp63	T	A	16: 25,620,843 (GRCm39)	F12I	probably benign	Het
Ttn	C	T	2: 76,709,401 (GRCm39)		probably null	Het
Tubgcp4	T	C	2: 121,025,946 (GRCm39)	V596A	probably benign	Het
Ugt2a3	A	C	5: 87,473,491 (GRCm39)	H475Q	probably damaging	Het
Unc79	G	A	12: 103,025,759 (GRCm39)	R382K	probably damaging	Het
Vmn2r58	T	C	7: 41,513,662 (GRCm39)	H327R	possibly damaging	Het
Vmn2r7	G	A	3: 64,623,987 (GRCm39)	T111I	possibly damaging	Het
Zfp318	T	A	17: 46,708,138 (GRCm39)	Y399N	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- AGTTTGAGCATGTTTCTAGCCAC -3'
(R):5'- TTCTCTGAAAAGCAATCGTCAACC -3'

Sequencing Primer
(F):5'- AGCATGTTTCTAGCCACTAGTG -3'
(R):5'- ATCGTCAACCTCCCAGTTAGG -3'

Posted On

2019-05-13