Mutagenetix > Incidental Mutation

Incidental Mutation 'R0651:Sigirr'

62251

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

038836-MU

Accession Numbers

Essential gene?

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

Stock #

R0651 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

140671088-140680485 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 140672980 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 69 (V69D)

Gene Model

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

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: V130D

PolyPhen 2 Score 0.352 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000095571
Gene: ENSMUSG00000025494
AA Change: V130D

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

possibly damaging
Transcript: ENSMUST00000209887
AA Change: V69D

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000210167
AA Change: V130D

PolyPhen 2 Score 0.352 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000209294
AA Change: V130D

PolyPhen 2 Score 0.352 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000209199

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210978

Predicted Effect

probably benign
Transcript: ENSMUST00000209352

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210941

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.0%
20x: 93.4%

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: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	T	C	12: 72,956,830 (GRCm39)	D120G	probably damaging	Het
Arid2	T	A	15: 96,299,930 (GRCm39)	F1814L	possibly damaging	Het
Huwe1	T	C	X: 150,659,309 (GRCm39)	S921P	probably damaging	Het
Krt18	A	G	15: 101,937,920 (GRCm39)	D139G	possibly damaging	Het
Naa16	T	C	14: 79,588,832 (GRCm39)	K507R	probably damaging	Het
Pidd1	A	T	7: 141,020,726 (GRCm39)	L457*	probably null	Het
Rps6kc1	A	T	1: 190,531,693 (GRCm39)	F770I	possibly damaging	Het
Steap4	T	G	5: 8,030,348 (GRCm39)	Y401*	probably null	Het
Tmem81	C	G	1: 132,435,567 (GRCm39)	I124M	probably damaging	Het
Zfp616	C	T	11: 73,974,555 (GRCm39)	Q275*	probably null	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
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
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'- TGAGACACTGCCTTTCCACTGC -3'
(R):5'- TCCTGGTGCTCAACTTGACCAATG -3'

Sequencing Primer
(F):5'- TGCCTCTGAACACCTAGATCC -3'
(R):5'- GAGGACTATGGAACCTTCACCTG -3'

Posted On

2013-07-30