Mutagenetix > Incidental Mutation

Incidental Mutation 'R4092:Tollip'

317669

Institutional Source

Beutler Lab

Gene Symbol

Tollip

Ensembl Gene

ENSMUSG00000025139

Gene Name

toll interacting protein

Synonyms

Toll interacting protein, 4930403G24Rik, 4931428G15Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R4092 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

141435317-141456198 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 141438180 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 181 (R181H)

Ref Sequence

ENSEMBL: ENSMUSP00000118336 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001950] [ENSMUST00000055819] [ENSMUST00000130439] [ENSMUST00000151890]

AlphaFold

Q9QZ06

Predicted Effect

probably damaging
Transcript: ENSMUST00000001950
AA Change: R250H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000001950
Gene: ENSMUSG00000025139
AA Change: R250H

Domain	Start	End	E-Value	Type
low complexity region	28	44	N/A	INTRINSIC
C2	54	151	1.32e-6	SMART
low complexity region	175	190	N/A	INTRINSIC
low complexity region	213	225	N/A	INTRINSIC
CUE	229	271	1.43e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000055819

SMART Domains

Protein: ENSMUSP00000051485
Gene: ENSMUSG00000025139

Domain	Start	End	E-Value	Type
low complexity region	28	44	N/A	INTRINSIC
C2	54	151	1.32e-6	SMART
low complexity region	175	190	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000130439
AA Change: R246H

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000117938
Gene: ENSMUSG00000025139
AA Change: R246H

Domain	Start	End	E-Value	Type
low complexity region	24	40	N/A	INTRINSIC
Pfam:C2	51	115	6e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000151890
AA Change: R181H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118336
Gene: ENSMUSG00000025139
AA Change: R181H

Domain	Start	End	E-Value	Type
Pfam:C2	1	66	1.9e-8	PFAM
low complexity region	106	121	N/A	INTRINSIC
low complexity region	144	156	N/A	INTRINSIC
CUE	160	202	1.43e-15	SMART

Meta Mutation Damage Score

0.3541

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (53/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ubiquitin-binding protein that interacts with several Toll-like receptor (TLR) signaling cascade components. The encoded protein regulates inflammatory signaling and is involved in interleukin-1 receptor trafficking and in the turnover of IL1R-associated kinase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous null mice display normal immune cell composition but reduced cytokine production when stimulated with low concentrations of some inducers. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	A	T	9: 124,055,903 (GRCm39)	H340Q	probably benign	Het
Adam22	A	T	5: 8,145,004 (GRCm39)	I116N	probably damaging	Het
Adamts2	T	A	11: 50,678,103 (GRCm39)	V794E	probably damaging	Het
Ak9	T	C	10: 41,265,140 (GRCm39)	S966P	probably benign	Het
Alox5	G	A	6: 116,389,635 (GRCm39)		probably benign	Het
Bmerb1	G	A	16: 13,867,346 (GRCm39)	R68H	probably damaging	Het
Brip1	C	T	11: 86,039,347 (GRCm39)	D396N	possibly damaging	Het
Catsper3	C	T	13: 55,932,484 (GRCm39)	H4Y	probably benign	Het
Cmtm2a	T	C	8: 105,019,403 (GRCm39)	Y62C	probably benign	Het
Crim1	T	C	17: 78,658,265 (GRCm39)	C715R	probably damaging	Het
Dio3	A	G	12: 110,246,234 (GRCm39)	D190G	possibly damaging	Het
Efl1	A	G	7: 82,412,035 (GRCm39)	E808G	probably benign	Het
Eif1ad16	A	T	12: 87,985,194 (GRCm39)	N116K	possibly damaging	Het
Fam83b	T	C	9: 76,398,943 (GRCm39)	D720G	probably benign	Het
Fbp2	C	T	13: 62,988,174 (GRCm39)	V246M	possibly damaging	Het
Gm10197	G	A	19: 53,360,196 (GRCm39)		probably benign	Het
Icam2	C	A	11: 106,271,623 (GRCm39)	M1I	probably null	Het
Insyn2b	G	A	11: 34,351,935 (GRCm39)		probably benign	Het
Kit	T	C	5: 75,771,470 (GRCm39)	I209T	probably benign	Het
Lcmt1	T	C	7: 123,017,476 (GRCm39)	V200A	probably damaging	Het
Lrrn2	C	T	1: 132,865,390 (GRCm39)	Q152*	probably null	Het
Mmadhc	A	G	2: 50,177,895 (GRCm39)	M174T	probably benign	Het
N4bp2	A	G	5: 65,947,799 (GRCm39)	N143S	probably benign	Het
Ndufs1	G	A	1: 63,196,405 (GRCm39)	A340V	possibly damaging	Het
Nid1	A	G	13: 13,661,224 (GRCm39)	D708G	probably damaging	Het
Noc2l	A	C	4: 156,327,033 (GRCm39)	T295P	probably damaging	Het
Nutm1	T	A	2: 112,079,809 (GRCm39)	N702I	probably damaging	Het
Obscn	T	A	11: 58,946,886 (GRCm39)	M4083L	probably benign	Het
Or5b104	T	C	19: 13,072,790 (GRCm39)	Y74C	probably damaging	Het
Otol1	T	A	3: 69,935,118 (GRCm39)	I370N	probably damaging	Het
Paip1	T	G	13: 119,586,449 (GRCm39)	S58A	probably benign	Het
Pfas	T	C	11: 68,884,775 (GRCm39)	T476A	probably benign	Het
Plppr3	G	T	10: 79,703,314 (GRCm39)	R57S	probably damaging	Het
Ptgir	T	C	7: 16,640,932 (GRCm39)	S75P	probably damaging	Het
Raver1	A	T	9: 20,992,568 (GRCm39)	L287Q	probably damaging	Het
Rps6ka4	C	T	19: 6,809,623 (GRCm39)		probably null	Het
Rps6-ps2	A	G	8: 89,533,319 (GRCm39)		noncoding transcript	Het
Scn11a	T	A	9: 119,619,036 (GRCm39)	M769L	probably benign	Het
Serpina16	G	T	12: 103,638,836 (GRCm39)	H250Q	probably benign	Het
Serpina3a	G	A	12: 104,082,625 (GRCm39)	V133I	probably benign	Het
Slc12a8	G	A	16: 33,437,491 (GRCm39)	G308D	probably damaging	Het
Slfn5	T	C	11: 82,851,893 (GRCm39)	L673P	probably damaging	Het
Sorcs2	T	C	5: 36,183,166 (GRCm39)	K1036E	possibly damaging	Het
Speer3	C	G	5: 13,846,394 (GRCm39)	A238G	possibly damaging	Het
Sptbn5	C	A	2: 119,897,532 (GRCm39)	E550D	probably damaging	Het
Srgap3	G	T	6: 112,700,045 (GRCm39)	P1002T	probably benign	Het
Trmt1l	T	A	1: 151,330,784 (GRCm39)	S600R	probably benign	Het
Vps16	T	A	2: 130,281,832 (GRCm39)	Y315N	probably damaging	Het
Vps50	A	G	6: 3,551,037 (GRCm39)	E367G	probably benign	Het

Other mutations in Tollip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1404:Tollip	UTSW	7	141,438,292 (GRCm39)	missense	probably benign	0.00
R1404:Tollip	UTSW	7	141,438,292 (GRCm39)	missense	probably benign	0.00
R1742:Tollip	UTSW	7	141,446,592 (GRCm39)	missense	probably damaging	1.00
R2443:Tollip	UTSW	7	141,444,560 (GRCm39)	nonsense	probably null
R5192:Tollip	UTSW	7	141,445,854 (GRCm39)	missense	probably damaging	1.00
R5614:Tollip	UTSW	7	141,445,825 (GRCm39)	missense	probably damaging	1.00
R6132:Tollip	UTSW	7	141,443,334 (GRCm39)	missense	probably benign	0.37
R6805:Tollip	UTSW	7	141,444,582 (GRCm39)	missense	probably benign	0.21
R6830:Tollip	UTSW	7	141,452,451 (GRCm39)	start codon destroyed	probably null	0.00
R7366:Tollip	UTSW	7	141,443,334 (GRCm39)	missense	probably benign	0.37
R7509:Tollip	UTSW	7	141,445,878 (GRCm39)	missense	probably benign	0.36
R7759:Tollip	UTSW	7	141,438,276 (GRCm39)	missense	probably benign
R8024:Tollip	UTSW	7	141,446,563 (GRCm39)	missense	probably benign
R9574:Tollip	UTSW	7	141,445,731 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGACTGCCTGCTTAGAACC -3'
(R):5'- GCAGCTTTGTGATCCCACTG -3'

Sequencing Primer
(F):5'- TGCATCCCCGAAATATGTAGG -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'

Posted On

2015-05-15