Mutagenetix > Incidental Mutation

Incidental Mutation 'R9726:Sigirr'

731041

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

Accession Numbers

Essential gene?

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

Stock #

R9726 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

140671088-140680485 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140672123 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 274 (L274P)

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 damaging
Transcript: ENSMUST00000097958
AA Change: L274P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095571
Gene: ENSMUSG00000025494
AA Change: L274P

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 damaging
Transcript: ENSMUST00000209294
AA Change: L274P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000209352

Predicted Effect

probably benign
Transcript: ENSMUST00000209887

Predicted Effect

probably damaging
Transcript: ENSMUST00000210167
AA Change: L274P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	T	C	6: 72,325,650 (GRCm39)	V122A	probably damaging	Het
Ago2	T	C	15: 72,998,919 (GRCm39)	Y226C	probably damaging	Het
Akap9	A	G	5: 4,053,757 (GRCm39)	K1574R	probably benign	Het
Apob	T	C	12: 8,056,926 (GRCm39)	Y1803H	probably damaging	Het
Atosb	T	C	4: 43,034,991 (GRCm39)	D302G	probably damaging	Het
Bex6	A	T	16: 32,005,243 (GRCm39)	D17V	probably damaging	Het
Cd72	T	G	4: 43,452,641 (GRCm39)		probably null	Het
Cdcp2	C	A	4: 106,959,936 (GRCm39)	S117Y	probably damaging	Het
Cenpx	A	G	11: 120,603,328 (GRCm39)	L22P	unknown	Het
Cep135	A	G	5: 76,741,151 (GRCm39)	T76A	probably benign	Het
Cps1	A	T	1: 67,195,395 (GRCm39)	Q272L	probably benign	Het
Cul4a	C	T	8: 13,156,208 (GRCm39)	P55S	probably benign	Het
Cyp2f2	C	T	7: 26,821,411 (GRCm39)	T108I	probably damaging	Het
Dapk1	T	C	13: 60,898,948 (GRCm39)	V806A	probably benign	Het
Dgki	T	C	6: 37,276,858 (GRCm39)	H9R	unknown	Het
Dmxl2	A	T	9: 54,322,996 (GRCm39)	S1289T	probably benign	Het
Dock8	T	A	19: 25,154,374 (GRCm39)	V1691D	probably damaging	Het
Dock9	A	C	14: 121,835,149 (GRCm39)	L1280R	possibly damaging	Het
Dync2h1	G	A	9: 7,077,999 (GRCm39)	S2901F	possibly damaging	Het
Fkbp8	A	G	8: 70,987,529 (GRCm39)	K380E	probably damaging	Het
Ggta1	T	C	2: 35,292,422 (GRCm39)	Y295C	probably damaging	Het
Gm7145	A	G	1: 117,913,706 (GRCm39)	N196S	possibly damaging	Het
Hectd4	A	T	5: 121,448,744 (GRCm39)	Y364F	probably benign	Het
Ighv11-1	T	A	12: 113,945,623 (GRCm39)	I77L	probably benign	Het
Kcnmb3	A	G	3: 32,536,512 (GRCm39)	V72A	possibly damaging	Het
Kel	C	T	6: 41,678,971 (GRCm39)	G164D	probably damaging	Het
Krba1	C	A	6: 48,389,298 (GRCm39)	T606N	possibly damaging	Het
Lig3	T	C	11: 82,674,420 (GRCm39)	L82P	possibly damaging	Het
Limd1	T	C	9: 123,308,984 (GRCm39)	S228P	probably benign	Het
Mlf2	C	T	6: 124,911,621 (GRCm39)	R157W	probably benign	Het
Naxe	T	C	3: 87,965,719 (GRCm39)	S27G	probably benign	Het
Oprm1	T	A	10: 6,929,694 (GRCm39)	C345S	probably benign	Het
Or4c108	T	A	2: 88,804,221 (GRCm39)	T5S	probably benign	Het
Or6c210	A	G	10: 129,495,920 (GRCm39)	I82V	possibly damaging	Het
Oscp1	C	A	4: 125,970,626 (GRCm39)	D138E	probably benign	Het
Panx3	T	A	9: 37,572,992 (GRCm39)	Y186F	probably damaging	Het
Pip5kl1	T	C	2: 32,473,391 (GRCm39)	Y343H	probably damaging	Het
Rasgef1b	T	C	5: 99,382,349 (GRCm39)	T214A	probably damaging	Het
Rims1	C	A	1: 22,669,493 (GRCm39)	W105L	probably null	Het
Serpina3f	C	T	12: 104,184,698 (GRCm39)	P281S	probably damaging	Het
Sgsm1	T	C	5: 113,458,418 (GRCm39)	K20R	probably benign	Het
Slc44a1	T	C	4: 53,491,410 (GRCm39)	V49A	probably benign	Het
Spata31h1	T	C	10: 82,118,605 (GRCm39)	S4802G	unknown	Het
Sstr1	G	A	12: 58,259,484 (GRCm39)	D36N	probably benign	Het
Stab2	T	A	10: 86,790,095 (GRCm39)	D557V	probably benign	Het
Topaz1	GCAGGGGGATGAGAAGGTA	G	9: 122,603,934 (GRCm39)		probably benign	Het
Topaz1	CAGGGGGATGAGAAGGTAAAG	CAG	9: 122,603,935 (GRCm39)		probably benign	Het
Trio	G	T	15: 27,912,752 (GRCm39)	Q101K	unknown	Het
Vmn1r185	T	A	7: 26,310,783 (GRCm39)	I241F	probably damaging	Het
Zfp229	T	A	17: 21,965,354 (GRCm39)	I528N	probably damaging	Het
Zfy1	A	G	Y: 725,476 (GRCm39)	F763S	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
R8076:Sigirr	UTSW	7	140,671,785 (GRCm39)	missense	probably benign	0.08
R8266:Sigirr	UTSW	7	140,671,662 (GRCm39)	missense	unknown
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'- GATCTATAAACAGGAAGCCTCTAGCC -3'
(R):5'- TCGTGGTTCTTTCAGATGCC -3'

Sequencing Primer
(F):5'- GAAGCCTCTAGCCACCCAGG -3'
(R):5'- TCAGATGCCTTCCTAAGCCGG -3'

Posted On

2022-10-06