Mutagenetix > Incidental Mutations

Incidental Mutation 'R1368:Sike1'

155862

Institutional Source

Beutler Lab

Gene Symbol

Sike1

Ensembl Gene

ENSMUSG00000027854

Gene Name

suppressor of IKBKE 1

Synonyms

MMRRC Submission

039433-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R1368 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102995708-103008459 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102996184 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 63 (D63G)

Ref Sequence

ENSEMBL: ENSMUSP00000029447 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029447] [ENSMUST00000119450]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029447
AA Change: D63G

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000029447
Gene: ENSMUSG00000027854
AA Change: D63G

Domain	Start	End	E-Value	Type
Pfam:DUF837	2	187	1.3e-70	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119450

SMART Domains

Protein: ENSMUSP00000112886
Gene: ENSMUSG00000027854

Domain	Start	End	E-Value	Type
Pfam:DUF837	1	49	5.2e-20	PFAM
Pfam:DUF837	46	106	3.4e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137332

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151065

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196827

Predicted Effect

unknown
Transcript: ENSMUST00000197601
AA Change: D3G

Meta Mutation Damage Score

0.238

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

98% (55/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SIKE interacts with IKK-epsilon (IKBKE; MIM 605048) and TBK1 (MIM 604834) and acts as a suppressor of TLR3 (MIM 603029) and virus-triggered interferon activation pathways (Huang et al., 2005 [PubMed 16281057]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	A	G	7: 28,159,478	Q2341R	possibly damaging	Het
9930021J03Rik	C	A	19: 29,716,396	S1966I	probably damaging	Het
Abca13	A	G	11: 9,291,836	D1233G	probably benign	Het
Abcc8	G	A	7: 46,122,860	R832W	probably damaging	Het
Atp10b	A	G	11: 43,202,154	T439A	probably damaging	Het
C130073F10Rik	T	A	4: 101,890,756	N74Y	possibly damaging	Het
Cct8	G	A	16: 87,491,312	S124L	probably damaging	Het
Cdh9	T	A	15: 16,848,482		probably benign	Het
Cep290	C	T	10: 100,494,966		probably benign	Het
Chrng	T	A	1: 87,205,853	L10H	probably damaging	Het
Cnn3	T	C	3: 121,457,137	L189S	probably benign	Het
Cog4	A	G	8: 110,858,525		probably benign	Het
Cxcl12	A	G	6: 117,176,150		probably benign	Het
Eif2b2	G	A	12: 85,223,456	A257T	probably damaging	Het
Fam189a1	A	T	7: 64,819,877	V41E	probably damaging	Het
Fanca	G	A	8: 123,304,281		probably benign	Het
Fktn	G	A	4: 53,734,880	G173R	probably damaging	Het
Gabbr2	T	C	4: 46,674,464	N841S	probably benign	Het
Gm5622	T	A	14: 51,662,190	V167E	possibly damaging	Het
Gnaq	T	C	19: 16,378,287	V289A	probably benign	Het
Gpatch2l	T	G	12: 86,260,665	D272E	possibly damaging	Het
Gzmg	G	A	14: 56,157,806	T74I	probably benign	Het
Ikzf2	G	A	1: 69,539,315	A271V	possibly damaging	Het
Lig4	T	C	8: 9,971,176	D868G	possibly damaging	Het
Mfsd6	T	C	1: 52,708,605	E367G	possibly damaging	Het
Mpz	T	C	1: 171,159,964	L223P	probably damaging	Het
Muc3	T	C	5: 137,146,826		probably benign	Het
Olfr38	C	A	6: 42,762,679	T209K	possibly damaging	Het
Pdcd2	G	T	17: 15,526,584	N104K	probably damaging	Het
Pigg	G	T	5: 108,317,288	G129V	probably damaging	Het
Ppp3cc	T	C	14: 70,245,862	Y254C	probably damaging	Het
Prl3b1	G	A	13: 27,243,865	A53T	probably benign	Het
Psg23	A	G	7: 18,614,720	V54A	probably benign	Het
Psmd3	A	G	11: 98,682,920	D64G	probably damaging	Het
Psmg2	CTTCAGTT	CTTCAGTTCAGTT	18: 67,646,025		probably null	Het
Ptgdr	T	A	14: 44,853,342	I320F	probably damaging	Het
Rad50	T	A	11: 53,683,245	K722*	probably null	Het
Rasl10b	G	A	11: 83,417,839		probably null	Het
Rgs9	G	A	11: 109,248,151	S255L	probably benign	Het
Ror1	C	T	4: 100,441,137	P569L	possibly damaging	Het
Rsad2	T	C	12: 26,447,148		probably null	Het
Scn8a	A	G	15: 101,035,541	D1501G	probably damaging	Het
Sema3c	A	G	5: 17,678,332	T313A	possibly damaging	Het
Serpinc1	T	A	1: 160,993,524	F59L	probably damaging	Het
Slc25a11	T	A	11: 70,645,526		probably null	Het
Slc32a1	A	G	2: 158,611,320	M27V	probably benign	Het
Smc5	A	G	19: 23,210,443	V1003A	probably damaging	Het
Tll2	G	A	19: 41,120,228	R328C	probably damaging	Het
Topaz1	A	G	9: 122,748,250	E75G	possibly damaging	Het
Tspan3	A	T	9: 56,147,499	V48E	probably benign	Het
Ugt1a6b	T	C	1: 88,107,636	I232T	probably benign	Het
Unc79	A	G	12: 103,156,513	K2290E	probably damaging	Het
Vmn1r19	T	C	6: 57,404,671	F70L	probably benign	Het

Other mutations in Sike1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2280:Sike1	UTSW	3	102997378	missense	possibly damaging	0.89
R4868:Sike1	UTSW	3	102997414	intron	probably null
R5356:Sike1	UTSW	3	103001790	missense	possibly damaging	0.51

Predicted Primers

PCR Primer
(F):5'- TCCACCCTAGAAAGGCTAAGGCTG -3'
(R):5'- CTTGTGAACTGTTCAGGCACTTGTG -3'

Sequencing Primer
(F):5'- TCTTGACGGACGCCAAGAC -3'
(R):5'- ACGCCTGACTAACCTCTGTT -3'

Posted On

2014-02-11