Mutagenetix > Incidental Mutation

Incidental Mutation 'R8076:Sigirr'

629025

Institutional Source

Beutler Lab

Gene Symbol

Sigirr

Ensembl Gene

ENSMUSG00000025494

Gene Name

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

Synonyms

Sigirr, Tir8

MMRRC Submission

067510-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R8076 (G1)

Quality Score

199.009

Status

Validated

Chromosome

Chromosomal Location

140671088-140680485 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 140671785 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 333 (V333M)

Ref Sequence

ENSEMBL: ENSMUSP00000095571 (fasta)

Gene Model

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

AlphaFold

Q9JLZ8

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 benign
Transcript: ENSMUST00000097958
AA Change: V333M

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000095571
Gene: ENSMUSG00000025494
AA Change: V333M

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

probably benign
Transcript: ENSMUST00000209199

Predicted Effect

probably benign
Transcript: ENSMUST00000209294
AA Change: V333M

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000209352

Predicted Effect

probably benign
Transcript: ENSMUST00000209887

Predicted Effect

probably benign
Transcript: ENSMUST00000210167
AA Change: V333M

PolyPhen 2 Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 95.1%

Validation Efficiency

98% (62/63)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam9	T	A	8: 25,452,938 (GRCm39)	R790*	probably null	Het
Adamts13	C	A	2: 26,880,624 (GRCm39)	P736T	probably benign	Het
Aldh3b2	T	A	19: 4,028,859 (GRCm39)	F176L	possibly damaging	Het
Aldoart2	A	G	12: 55,612,696 (GRCm39)	E207G	probably benign	Het
Arid4b	A	T	13: 14,361,535 (GRCm39)	E753D	probably benign	Het
Cd160	T	A	3: 96,709,662 (GRCm39)	T158S	probably benign	Het
Cd209g	T	A	8: 4,185,195 (GRCm39)	M1K	probably null	Het
Chrm4	A	G	2: 91,758,204 (GRCm39)	Y204C	probably damaging	Het
Cyld	T	A	8: 89,456,346 (GRCm39)	N465K	probably benign	Het
Dchs1	A	T	7: 105,405,128 (GRCm39)	H2471Q	possibly damaging	Het
Dchs1	A	G	7: 105,411,189 (GRCm39)	V1612A	probably damaging	Het
Ddx24	A	G	12: 103,382,477 (GRCm39)	V702A	probably damaging	Het
Dnah8	A	G	17: 31,003,127 (GRCm39)	T3609A	possibly damaging	Het
Dock5	A	T	14: 68,040,426 (GRCm39)		probably null	Het
Dpy19l2	C	T	9: 24,591,988 (GRCm39)	R205H	probably damaging	Het
Eif3a	A	T	19: 60,762,363 (GRCm39)	D473E	probably damaging	Het
Elapor1	G	T	3: 108,399,398 (GRCm39)	T64K	probably benign	Het
Elobl	T	C	11: 88,855,796 (GRCm39)	E89G	possibly damaging	Het
Fam186a	A	T	15: 99,841,351 (GRCm39)	I1631N	possibly damaging	Het
Fbn2	C	T	18: 58,159,496 (GRCm39)	W2411*	probably null	Het
Fbxl17	A	G	17: 63,367,360 (GRCm39)	I671T	probably damaging	Het
Glul	C	T	1: 153,782,868 (GRCm39)	T193I	possibly damaging	Het
Grm7	A	G	6: 111,543,000 (GRCm39)	Y907C	probably damaging	Het
H4c16	A	G	6: 136,781,124 (GRCm39)	M85T	probably benign	Het
Hr	A	G	14: 70,795,381 (GRCm39)	T309A	probably benign	Het
Ighg3	A	G	12: 113,324,158 (GRCm39)	S110P	probably benign	Het
Llgl2	A	G	11: 115,737,755 (GRCm39)	E180G	possibly damaging	Het
Mat2b	A	T	11: 40,576,092 (GRCm39)	L112Q	probably damaging	Het
Mcoln2	T	C	3: 145,896,169 (GRCm39)	M497T	probably damaging	Het
Mmp24	C	A	2: 155,649,481 (GRCm39)	Y299*	probably null	Het
Mtor	T	C	4: 148,610,260 (GRCm39)		probably null	Het
Olig2	C	A	16: 91,023,299 (GRCm39)	D4E	probably damaging	Het
Or10ag2	A	T	2: 87,248,889 (GRCm39)	I164L	probably benign	Het
Pard3	T	C	8: 128,142,077 (GRCm39)	S878P	probably damaging	Het
Pcgf5	C	T	19: 36,417,483 (GRCm39)	P137L	probably damaging	Het
Pck1	A	G	2: 172,997,071 (GRCm39)	N238D	probably damaging	Het
Pstpip1	T	C	9: 56,035,064 (GRCm39)	S346P	probably benign	Het
Qsox2	G	A	2: 26,114,897 (GRCm39)	H40Y	possibly damaging	Het
Rbpj	T	C	5: 53,799,479 (GRCm39)	I129T	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Saal1	G	A	7: 46,360,031 (GRCm39)	P9L	probably benign	Het
Sema3c	A	G	5: 17,932,362 (GRCm39)	I622V	probably benign	Het
Sort1	T	C	3: 108,246,183 (GRCm39)	S387P	probably damaging	Het
Spata31h1	A	C	10: 82,132,520 (GRCm39)	Y163*	probably null	Het
Spta1	T	A	1: 174,014,797 (GRCm39)	S426T	probably benign	Het
Stag3	G	A	5: 138,281,404 (GRCm39)	S124N	probably damaging	Het
Stard10	A	G	7: 100,993,176 (GRCm39)	Y244C	probably damaging	Het
Tcea3	T	A	4: 135,995,440 (GRCm39)	I261N	probably damaging	Het
Tdrd1	A	G	19: 56,832,267 (GRCm39)	K395E	probably damaging	Het
Tenm2	T	A	11: 35,918,048 (GRCm39)	D1905V	probably benign	Het
Trim12c	T	C	7: 103,990,037 (GRCm39)	Y480C	unknown	Het
Trip11	A	G	12: 101,849,741 (GRCm39)	V1441A	probably damaging	Het
Ttc21a	G	A	9: 119,795,392 (GRCm39)	R1107Q	probably benign	Het
Wdr41	A	G	13: 95,153,838 (GRCm39)	I296V	probably benign	Het
Zdbf2	T	A	1: 63,345,260 (GRCm39)	V1213E	possibly damaging	Het
Zfp37	T	C	4: 62,109,553 (GRCm39)	N545D	possibly damaging	Het

Other mutations in Sigirr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00517:Sigirr	APN	7	140,672,147 (GRCm39)	missense	probably benign	0.29
IGL02166:Sigirr	APN	7	140,672,140 (GRCm39)	missense	probably benign	0.02
IGL02662:Sigirr	APN	7	140,674,707 (GRCm39)	start gained	probably benign
R0044:Sigirr	UTSW	7	140,672,226 (GRCm39)	splice site	probably null
R0081:Sigirr	UTSW	7	140,671,285 (GRCm39)	missense	probably damaging	1.00
R0512:Sigirr	UTSW	7	140,672,333 (GRCm39)	missense	probably benign	0.01
R0651:Sigirr	UTSW	7	140,672,980 (GRCm39)	missense	possibly damaging	0.94
R0652:Sigirr	UTSW	7	140,672,980 (GRCm39)	missense	possibly damaging	0.94
R2471:Sigirr	UTSW	7	140,672,510 (GRCm39)	missense	probably damaging	0.97
R3028:Sigirr	UTSW	7	140,672,192 (GRCm39)	missense	probably damaging	0.99
R4786:Sigirr	UTSW	7	140,671,346 (GRCm39)	missense	probably benign	0.17
R4910:Sigirr	UTSW	7	140,673,701 (GRCm39)	missense	probably damaging	1.00
R5615:Sigirr	UTSW	7	140,672,632 (GRCm39)	missense	probably damaging	0.99
R5861:Sigirr	UTSW	7	140,671,292 (GRCm39)	missense	probably damaging	1.00
R5944:Sigirr	UTSW	7	140,671,300 (GRCm39)	missense	probably damaging	1.00
R6764:Sigirr	UTSW	7	140,673,155 (GRCm39)	missense	probably benign	0.01
R8266:Sigirr	UTSW	7	140,671,662 (GRCm39)	missense	unknown
R9726:Sigirr	UTSW	7	140,672,123 (GRCm39)	missense	probably damaging	1.00
X0010:Sigirr	UTSW	7	140,673,187 (GRCm39)	missense	probably benign	0.00
X0058:Sigirr	UTSW	7	140,673,825 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CACTGTCTGTGGAGGTCAAAC -3'
(R):5'- CAAGGGCAGTGCTATTTGGG -3'

Sequencing Primer
(F):5'- CTTGATCTGCAGTGAGCA -3'
(R):5'- AGAGGCTTCCTGTTTATAGATCC -3'

Posted On

2020-06-30