Mutagenetix > Incidental Mutation

Incidental Mutation 'R6303:Sik1'

509173

Institutional Source

Beutler Lab

Gene Symbol

Sik1

Ensembl Gene

ENSMUSG00000024042

Gene Name

salt inducible kinase 1

Synonyms

Snf1lk, Msk

MMRRC Submission

044410-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6303 (G1)

Quality Score

217.009

Status

Validated

Chromosome

Chromosomal Location

32063224-32074778 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32065270 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 776 (V776A)

Ref Sequence

ENSEMBL: ENSMUSP00000024839 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024839]

AlphaFold

Q60670

Predicted Effect

probably damaging
Transcript: ENSMUST00000024839
AA Change: V776A

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000024839
Gene: ENSMUSG00000024042
AA Change: V776A

Domain	Start	End	E-Value	Type
S_TKc	27	278	3.38e-103	SMART
low complexity region	456	467	N/A	INTRINSIC
low complexity region	651	667	N/A	INTRINSIC

Meta Mutation Damage Score

0.2505

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

98% (43/44)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele and fed a high fat diet exhibit increased insulin sensitivity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol9b	T	A	15: 77,619,504 (GRCm39)	V100E	probably damaging	Het
Bin3	A	G	14: 70,374,625 (GRCm39)	D218G	possibly damaging	Het
Cobll1	A	T	2: 64,928,377 (GRCm39)	M982K	possibly damaging	Het
Crybg2	T	C	4: 133,814,898 (GRCm39)	V1593A	possibly damaging	Het
Ctsh	A	G	9: 89,944,796 (GRCm39)	S76G	possibly damaging	Het
Dnajc10	T	G	2: 80,181,008 (GRCm39)	D767E	probably benign	Het
Elapor1	A	C	3: 108,368,572 (GRCm39)	C806W	probably damaging	Het
Etaa1	A	C	11: 17,897,505 (GRCm39)	M204R	probably damaging	Het
Fbxw16	A	T	9: 109,278,169 (GRCm39)	I3N	probably benign	Het
Fndc1	T	C	17: 7,977,317 (GRCm39)	E1394G	probably damaging	Het
Gm19410	T	C	8: 36,274,714 (GRCm39)	C1512R	possibly damaging	Het
Gramd4	A	G	15: 86,019,120 (GRCm39)	E596G	possibly damaging	Het
Hephl1	C	A	9: 15,001,448 (GRCm39)	V226F	possibly damaging	Het
Ilf3	G	A	9: 21,314,432 (GRCm39)		probably benign	Het
Kcnh3	T	C	15: 99,124,919 (GRCm39)	V123A	probably benign	Het
Kdm2b	A	G	5: 123,019,807 (GRCm39)	S260P	probably benign	Het
Lingo4	G	A	3: 94,310,513 (GRCm39)	G484R	probably damaging	Het
Lrrc10b	T	C	19: 10,434,342 (GRCm39)	Q113R	probably benign	Het
Lrrc8c	A	T	5: 105,756,475 (GRCm39)	N750I	probably benign	Het
Mtcl2	T	C	2: 156,882,684 (GRCm39)	N456S	possibly damaging	Het
Nlrp2	A	G	7: 5,340,760 (GRCm39)	L18P	probably damaging	Het
Nrp2	T	C	1: 62,784,565 (GRCm39)	L238P	probably damaging	Het
Nup155	T	C	15: 8,147,526 (GRCm39)	S262P	probably damaging	Het
Or51k1	G	A	7: 103,661,238 (GRCm39)	L224F	probably damaging	Het
Pappa	G	A	4: 65,122,891 (GRCm39)	G742D	probably damaging	Het
Pclo	A	T	5: 14,727,907 (GRCm39)		probably benign	Het
Phyhipl	A	G	10: 70,395,387 (GRCm39)		probably null	Het
Plcg1	A	G	2: 160,603,383 (GRCm39)	T1185A	possibly damaging	Het
Plscr5	A	T	9: 92,087,609 (GRCm39)	I193F	probably benign	Het
Polr1b	G	A	2: 128,957,682 (GRCm39)	R579H	probably damaging	Het
Polr2a	A	T	11: 69,637,739 (GRCm39)	W202R	probably damaging	Het
Ppp4r1	A	G	17: 66,131,724 (GRCm39)	K489E	probably benign	Het
Qser1	G	A	2: 104,593,175 (GRCm39)	T1704I	probably damaging	Het
Spata31h1	T	A	10: 82,126,202 (GRCm39)	K2269N	possibly damaging	Het
Spice1	A	G	16: 44,191,060 (GRCm39)	M305V	probably benign	Het
Taf4b	T	C	18: 14,940,412 (GRCm39)	I297T	probably damaging	Het
Trim14	C	A	4: 46,522,118 (GRCm39)	M186I	probably benign	Het
Usp49	C	A	17: 47,991,747 (GRCm39)	Q670K	probably damaging	Het
Usp54	T	C	14: 20,611,036 (GRCm39)	D1260G	possibly damaging	Het
Vmn1r224	T	A	17: 20,640,028 (GRCm39)	S202T	possibly damaging	Het
Vmn1r3	T	A	4: 3,184,975 (GRCm39)	T111S	probably damaging	Het
Zfp985	A	G	4: 147,668,232 (GRCm39)	I367V	probably benign	Het

Other mutations in Sik1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4131001:Sik1	UTSW	17	32,070,305 (GRCm39)	missense	probably damaging	1.00
R0025:Sik1	UTSW	17	32,066,249 (GRCm39)	splice site	probably benign
R0371:Sik1	UTSW	17	32,067,958 (GRCm39)	missense	probably benign	0.10
R0452:Sik1	UTSW	17	32,068,055 (GRCm39)	missense	possibly damaging	0.86
R0465:Sik1	UTSW	17	32,073,996 (GRCm39)	missense	possibly damaging	0.48
R1274:Sik1	UTSW	17	32,065,549 (GRCm39)	missense	possibly damaging	0.72
R2057:Sik1	UTSW	17	32,067,771 (GRCm39)	missense	probably benign	0.00
R2058:Sik1	UTSW	17	32,067,771 (GRCm39)	missense	probably benign	0.00
R2059:Sik1	UTSW	17	32,067,771 (GRCm39)	missense	probably benign	0.00
R2367:Sik1	UTSW	17	32,065,271 (GRCm39)	missense	possibly damaging	0.87
R3114:Sik1	UTSW	17	32,067,106 (GRCm39)	missense	probably benign	0.01
R4629:Sik1	UTSW	17	32,068,581 (GRCm39)	missense	probably benign	0.10
R5638:Sik1	UTSW	17	32,069,802 (GRCm39)	missense	probably damaging	1.00
R5872:Sik1	UTSW	17	32,069,125 (GRCm39)	missense	probably damaging	1.00
R6149:Sik1	UTSW	17	32,067,771 (GRCm39)	missense	possibly damaging	0.54
R6853:Sik1	UTSW	17	32,073,180 (GRCm39)	critical splice donor site	probably null
R7170:Sik1	UTSW	17	32,067,746 (GRCm39)	missense	possibly damaging	0.89
R7225:Sik1	UTSW	17	32,073,274 (GRCm39)	missense	probably benign	0.00
R7893:Sik1	UTSW	17	32,069,020 (GRCm39)	missense	probably benign	0.00
R8217:Sik1	UTSW	17	32,070,286 (GRCm39)	missense	probably damaging	1.00
R8912:Sik1	UTSW	17	32,069,919 (GRCm39)	missense	possibly damaging	0.83
R9017:Sik1	UTSW	17	32,070,545 (GRCm39)	missense	probably damaging	1.00
R9166:Sik1	UTSW	17	32,069,727 (GRCm39)	missense	probably damaging	1.00
R9221:Sik1	UTSW	17	32,066,167 (GRCm39)	missense	probably benign	0.24
R9610:Sik1	UTSW	17	32,073,246 (GRCm39)	missense	probably damaging	1.00
R9611:Sik1	UTSW	17	32,073,246 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAAACGTATTGCTTGTTTCAC -3'
(R):5'- GGAATTCCACTGCTGCCAAC -3'

Sequencing Primer
(F):5'- TCACGTCTAGAAAGTTCTTGGC -3'
(R):5'- TCTCCAGGCTGGCATGTC -3'

Posted On

2018-04-02