Mutagenetix > Incidental Mutation

Incidental Mutation 'R8217:Sik1'

636442

Institutional Source

Beutler Lab

Gene Symbol

Sik1

Ensembl Gene

ENSMUSG00000024042

Gene Name

salt inducible kinase 1

Synonyms

Snf1lk, Msk

MMRRC Submission

067658-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8217 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32063224-32074778 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32070286 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 141 (H141L)

Ref Sequence

ENSEMBL: ENSMUSP00000024839 (fasta)

Gene Model

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

AlphaFold

Q60670

Predicted Effect

probably damaging
Transcript: ENSMUST00000024839
AA Change: H141L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000024839
Gene: ENSMUSG00000024042
AA Change: H141L

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

0.9701

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

98% (48/49)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrbp	T	C	6: 125,037,921 (GRCm39)	L406P	probably damaging	Het
Aph1b	T	C	9: 66,686,554 (GRCm39)	K239E	possibly damaging	Het
Atp13a4	C	A	16: 29,222,619 (GRCm39)	V1102F		Het
B3gat1	G	A	9: 26,668,165 (GRCm39)	A265T	probably damaging	Het
Bod1l	T	C	5: 41,988,850 (GRCm39)	E419G	probably damaging	Het
Ccdc142	T	C	6: 83,080,197 (GRCm39)	L380P	probably damaging	Het
Cd55b	CTTTT	CTTTTT	1: 130,347,337 (GRCm39)		probably null	Het
Cfi	A	C	3: 129,648,650 (GRCm39)	N178T	possibly damaging	Het
Col5a1	T	A	2: 27,812,135 (GRCm39)	D72E	unknown	Het
Cspg4	T	A	9: 56,797,637 (GRCm39)	V1367D	possibly damaging	Het
D5Ertd579e	A	C	5: 36,771,402 (GRCm39)	S998A	probably benign	Het
Ehf	T	C	2: 103,109,976 (GRCm39)	E77G	possibly damaging	Het
Erap1	T	C	13: 74,820,937 (GRCm39)	I662T	probably benign	Het
F11r	GGTGTG	GGTGTGTG	1: 171,290,656 (GRCm39)		probably null	Het
Flvcr2	GTAGTGTATA	GTA	12: 85,849,922 (GRCm39)		probably null	Het
Klhl8	A	G	5: 104,015,466 (GRCm39)	V486A	possibly damaging	Het
Lrrc72	A	T	12: 36,258,676 (GRCm39)	D60E	probably damaging	Het
Marchf5	C	T	19: 37,185,210 (GRCm39)		probably benign	Het
Mtmr12	T	C	15: 12,259,726 (GRCm39)	I365T	possibly damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Nod2	A	C	8: 89,390,785 (GRCm39)	D364A	probably benign	Het
Numa1	T	A	7: 101,641,876 (GRCm39)	M108K	possibly damaging	Het
Nutm2	G	T	13: 50,623,759 (GRCm39)	R152L	probably benign	Het
Or14c43	A	G	7: 86,115,390 (GRCm39)	Y257C	probably damaging	Het
Or2t46	A	T	11: 58,471,792 (GRCm39)	M41L	probably benign	Het
Or8k17	C	T	2: 86,066,862 (GRCm39)	V106M	probably benign	Het
Pak1ip1	T	A	13: 41,166,126 (GRCm39)	S350R	probably benign	Het
Pcdha3	T	C	18: 37,079,974 (GRCm39)	F239L	probably damaging	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pkm	C	T	9: 59,586,092 (GRCm39)	T524I	possibly damaging	Het
Plekhg2	T	A	7: 28,067,717 (GRCm39)	Q245L	probably null	Het
Pola2	T	A	19: 6,013,855 (GRCm39)	K26N	possibly damaging	Het
Prune2	G	T	19: 17,097,480 (GRCm39)	A995S	probably benign	Het
Rap2b	C	A	3: 61,272,551 (GRCm39)	T25K	possibly damaging	Het
Scrib	A	G	15: 75,939,004 (GRCm39)	S165P	probably damaging	Het
Sdk1	A	T	5: 142,197,713 (GRCm39)	H2122L	possibly damaging	Het
Sec24b	A	T	3: 129,834,599 (GRCm39)	F200I	possibly damaging	Het
Sh3rf1	T	C	8: 61,782,964 (GRCm39)	V226A	possibly damaging	Het
Slc9a5	A	T	8: 106,089,956 (GRCm39)	E638V	probably damaging	Het
Slco1a5	A	G	6: 142,221,202 (GRCm39)	C15R	probably benign	Het
Slit1	C	T	19: 41,612,959 (GRCm39)	D854N	possibly damaging	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tec	A	T	5: 72,921,602 (GRCm39)	M372K	probably benign	Het
Tlr2	A	G	3: 83,745,373 (GRCm39)	F237L	probably benign	Het
Trio	A	T	15: 27,819,055 (GRCm39)	L1597Q	probably damaging	Het
Trpa1	A	T	1: 14,957,247 (GRCm39)	M723K	probably damaging	Het
Ttc21a	T	C	9: 119,783,694 (GRCm39)	I592T	probably benign	Het
Vmn2r94	T	C	17: 18,463,986 (GRCm39)	E768G	probably damaging	Het
Zfhx3	A	G	8: 109,677,349 (GRCm39)	T2800A	probably benign	Het
Zpld1	A	G	16: 55,047,295 (GRCm39)		probably null	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
R6303:Sik1	UTSW	17	32,065,270 (GRCm39)	missense	probably damaging	0.97
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
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'- ATCCAAAATCTGTGAGGCAAAG -3'
(R):5'- CTAATTTAGGTGAAGCCCGCC -3'

Sequencing Primer
(F):5'- ACCCGCATCAGCTTGGGAC -3'
(R):5'- GAAGCCCGCCTTCTCTTGTATG -3'

Posted On

2020-07-13