Mutagenetix > Incidental Mutations

Incidental Mutation 'R2471:Sigirr'

253092

Institutional Source

Beutler Lab

Gene Symbol

Sigirr

Ensembl Gene

ENSMUSG00000025494

Gene Name

single immunoglobulin and toll-interleukin 1 receptor (TIR) domain

Synonyms

Tir8, Sigirr

MMRRC Submission

040403-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R2471 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

141091175-141100572 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 141092597 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 204 (L204S)

Ref Sequence

ENSEMBL: ENSMUSP00000147280 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066873] [ENSMUST00000097958] [ENSMUST00000106039] [ENSMUST00000209199] [ENSMUST00000209294] [ENSMUST00000209352] [ENSMUST00000210167]

Predicted Effect

probably benign
Transcript: ENSMUST00000066873

SMART Domains

Protein: ENSMUSP00000069961
Gene: ENSMUSG00000054065

Domain	Start	End	E-Value	Type
low complexity region	40	54	N/A	INTRINSIC
low complexity region	139	150	N/A	INTRINSIC
low complexity region	179	194	N/A	INTRINSIC
low complexity region	219	228	N/A	INTRINSIC
ARM	350	390	8.11e-5	SMART
ARM	392	432	3.24e-4	SMART
ARM	489	536	3.85e0	SMART
internal_repeat_1	605	702	2.91e-9	PROSPERO
low complexity region	717	731	N/A	INTRINSIC
low complexity region	757	774	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000097958
AA Change: L204S

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095571
Gene: ENSMUSG00000025494
AA Change: L204S

Domain	Start	End	E-Value	Type
IG	17	112	5.21e-2	SMART
transmembrane domain	117	139	N/A	INTRINSIC
Pfam:TIR	163	327	2.2e-19	PFAM
Pfam:TIR_2	166	308	2.1e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106039

SMART Domains

Protein: ENSMUSP00000101654
Gene: ENSMUSG00000054065

Domain	Start	End	E-Value	Type
low complexity region	65	79	N/A	INTRINSIC
low complexity region	164	175	N/A	INTRINSIC
low complexity region	204	219	N/A	INTRINSIC
low complexity region	244	253	N/A	INTRINSIC
ARM	375	415	8.11e-5	SMART
ARM	417	457	3.24e-4	SMART
ARM	514	561	3.85e0	SMART
internal_repeat_1	630	727	4.99e-9	PROSPERO
low complexity region	742	756	N/A	INTRINSIC
low complexity region	782	799	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159253

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160403

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160615

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161142

Predicted Effect

probably benign
Transcript: ENSMUST00000209199

Predicted Effect

probably damaging
Transcript: ENSMUST00000209294
AA Change: L204S

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000209352

Predicted Effect

probably benign
Transcript: ENSMUST00000209887

Predicted Effect

probably damaging
Transcript: ENSMUST00000210167
AA Change: L204S

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210941

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210978

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.5%

Validation Efficiency

MGI Phenotype

PHENOTYPE: When challenged, homozygous mutant mice show an increased inflammatory response. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	A	T	9: 55,980,863	M390K	probably benign	Het
Bicra	A	G	7: 15,972,332	S1395P	probably benign	Het
Cacnb2	G	A	2: 14,984,314	D402N	probably damaging	Het
Csmd1	T	A	8: 16,211,762	D907V	probably damaging	Het
Cstl1	T	A	2: 148,751,121	Y65*	probably null	Het
Dnajc1	T	C	2: 18,219,816	I213V	possibly damaging	Het
Emcn	C	T	3: 137,404,011	T138M	probably damaging	Het
F3	G	T	3: 121,725,040	W51L	probably damaging	Het
Far2	A	G	6: 148,138,694	Y41C	probably damaging	Het
Flrt1	A	T	19: 7,096,491	D230E	probably damaging	Het
Gimap7	G	A	6: 48,724,052	V191M	probably damaging	Het
Gm19402	A	T	10: 77,690,520		probably benign	Het
Ipo5	A	C	14: 120,922,162	K134T	probably benign	Het
Kcnf1	T	C	12: 17,175,530	E230G	probably damaging	Het
Mad1l1	T	C	5: 140,261,552	E340G	probably benign	Het
Map4k5	T	C	12: 69,856,846	I62V	probably benign	Het
March7	A	G	2: 60,236,900	K588R	possibly damaging	Het
Mctp2	T	A	7: 72,161,161	K52*	probably null	Het
Nr1h4	A	T	10: 89,473,894	F310L	probably damaging	Het
Ofcc1	G	A	13: 40,097,025	S605F	probably damaging	Het
Olfr1369-ps1	A	T	13: 21,116,429	T246S	probably damaging	Het
Olfr1447	G	A	19: 12,901,315	T155I	probably benign	Het
Olfr209	A	T	16: 59,361,581	S212R	possibly damaging	Het
Pcdh20	T	G	14: 88,467,236	E876A	probably benign	Het
Plce1	C	T	19: 38,779,926	A2215V	probably damaging	Het
Ptprg	T	C	14: 12,210,327	Y128H	probably damaging	Het
Slc2a12	A	T	10: 22,664,807	Y187F	probably damaging	Het
Slc31a2	A	T	4: 62,296,075	R86W	probably null	Het
Smc1b	T	C	15: 85,092,017	K830E	probably damaging	Het
Ssrp1	A	G	2: 85,042,298	N427D	possibly damaging	Het
Taar9	A	T	10: 24,109,391	F48L	probably benign	Het
Taok2	T	C	7: 126,875,100	E319G	probably damaging	Het
Try10	T	C	6: 41,356,746	S142P	probably damaging	Het
Tsc22d1	A	G	14: 76,418,204	T626A	probably benign	Het
Zfp101	T	C	17: 33,380,976	E602G	possibly damaging	Het

Other mutations in Sigirr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00517:Sigirr	APN	7	141092234	missense	probably benign	0.29
IGL02166:Sigirr	APN	7	141092227	missense	probably benign	0.02
IGL02662:Sigirr	APN	7	141094794	start gained	probably benign
R0044:Sigirr	UTSW	7	141092313	splice site	probably null
R0081:Sigirr	UTSW	7	141091372	missense	probably damaging	1.00
R0512:Sigirr	UTSW	7	141092420	missense	probably benign	0.01
R0651:Sigirr	UTSW	7	141093067	missense	possibly damaging	0.94
R0652:Sigirr	UTSW	7	141093067	missense	possibly damaging	0.94
R3028:Sigirr	UTSW	7	141092279	missense	probably damaging	0.99
R4786:Sigirr	UTSW	7	141091433	missense	probably benign	0.17
R4910:Sigirr	UTSW	7	141093788	missense	probably damaging	1.00
R5615:Sigirr	UTSW	7	141092719	missense	probably damaging	0.99
R5861:Sigirr	UTSW	7	141091379	missense	probably damaging	1.00
R5944:Sigirr	UTSW	7	141091387	missense	probably damaging	1.00
R6764:Sigirr	UTSW	7	141093242	missense	probably benign	0.01
R8076:Sigirr	UTSW	7	141091872	missense	probably benign	0.08
R8266:Sigirr	UTSW	7	141091749	missense	unknown
X0010:Sigirr	UTSW	7	141093274	missense	probably benign	0.00
X0058:Sigirr	UTSW	7	141093912	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCTGAAAGAACCACGATGAGAC -3'
(R):5'- AGTGTCTCAGAAGGGCACAG -3'

Sequencing Primer
(F):5'- CACGATGAGACGCCGACAG -3'
(R):5'- CTGAACATGGACTAGAGGTGCCTC -3'

Posted On

2014-12-04