Mutagenetix > Incidental Mutation

Incidental Mutation 'R8024:Tollip'

617585

Institutional Source

Beutler Lab

Gene Symbol

Tollip

Ensembl Gene

ENSMUSG00000025139

Gene Name

toll interacting protein

Synonyms

4930403G24Rik, Toll interacting protein, 4931428G15Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R8024 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141874813-141918507 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141892826 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 33 (I33V)

Ref Sequence

ENSEMBL: ENSMUSP00000001950 (fasta)

Gene Model

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

AlphaFold

Q9QZ06

Predicted Effect

probably benign
Transcript: ENSMUST00000001950
AA Change: I33V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000001950
Gene: ENSMUSG00000025139
AA Change: I33V

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
AA Change: I33V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000051485
Gene: ENSMUSG00000025139
AA Change: I33V

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

SMART Domains

Protein: ENSMUSP00000117938
Gene: ENSMUSG00000025139
AA Change: I29V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000151890

SMART Domains

Protein: ENSMUSP00000118336
Gene: ENSMUSG00000025139

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

Coding Region Coverage

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

Validation Efficiency

100% (74/74)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,612,594	N1257Y	probably benign	Het
2310057J18Rik	A	T	10: 28,982,595	Y133*	probably null	Het
2310057J18Rik	A	C	10: 28,986,217	S26A	possibly damaging	Het
4931409K22Rik	A	G	5: 24,550,636	M296T	possibly damaging	Het
9930012K11Rik	G	T	14: 70,156,667	P220T	probably damaging	Het
A430105I19Rik	A	G	2: 118,760,524		probably null	Het
Adam1b	A	C	5: 121,500,923	S686R	probably benign	Het
Adam8	T	C	7: 139,987,576	D418G	probably damaging	Het
Adcy8	A	G	15: 64,920,246	L287P	probably damaging	Het
Adhfe1	T	A	1: 9,563,855	M373K	probably benign	Het
Alpk2	T	C	18: 65,305,035	S1096G	probably benign	Het
Ankmy1	A	G	1: 92,884,994	V531A	probably benign	Het
Ano3	C	T	2: 110,667,783	E738K	probably damaging	Het
Ano4	T	A	10: 88,971,332	I796F	probably damaging	Het
Apeh	T	C	9: 108,092,591	E190G	probably benign	Het
Cadm3	A	G	1: 173,338,055	L346P	probably damaging	Het
Clec2e	G	A	6: 129,094,425	H150Y	possibly damaging	Het
Cnga4	A	T	7: 105,406,835	N318Y	probably damaging	Het
Cnr2	T	A	4: 135,916,885	F91L	probably damaging	Het
Diaph3	T	A	14: 86,656,399	E1147V	probably damaging	Het
Elmo2	T	C	2: 165,291,855	T738A	unknown	Het
Exoc4	T	A	6: 33,347,931	W387R	probably damaging	Het
Fam173b	T	C	15: 31,608,171	Y123H	probably damaging	Het
Focad	T	C	4: 88,397,000	V1379A	unknown	Het
Frmd4a	T	C	2: 4,603,702	S794P	probably damaging	Het
Ftl1-ps1	A	G	13: 74,407,051	T150A	probably benign	Het
Gm43517	A	T	12: 49,389,626		probably benign	Het
Gm5773	C	T	3: 93,773,168	A49V	probably benign	Het
Helz	T	A	11: 107,686,421	L1867Q	unknown	Het
Il22ra1	A	G	4: 135,734,278	H118R	probably benign	Het
Inf2	C	T	12: 112,608,902	P856S	unknown	Het
Ints5	T	A	19: 8,896,140	L488I	probably damaging	Het
Kifc1	G	A	17: 33,883,203	R479C	probably damaging	Het
Lrba	T	A	3: 86,295,401	C289*	probably null	Het
Mael	A	G	1: 166,226,627	L196S	probably damaging	Het
Med23	T	A	10: 24,879,683	S229R	possibly damaging	Het
Mroh9	T	C	1: 163,039,233	N645D	probably benign	Het
Myom3	G	A	4: 135,801,748	V1132I	probably benign	Het
Naalad2	T	G	9: 18,397,473		probably benign	Het
Ndufa13	A	T	8: 69,894,537	L71H	probably damaging	Het
Nepro	A	T	16: 44,731,415	H212L	probably benign	Het
Nmd3	T	A	3: 69,729,965		probably benign	Het
Nox4	T	A	7: 87,304,910	L141Q	probably damaging	Het
Olfr1254	T	C	2: 89,789,046	E102G	probably benign	Het
Olfr283	T	A	15: 98,378,997	M38L	probably benign	Het
Olfr473	T	C	7: 107,934,438	V306A	probably benign	Het
Olfr482	T	A	7: 108,095,289	T94S	probably benign	Het
Olfr811	T	G	10: 129,801,943	E194A	probably damaging	Het
Pfpl	A	G	19: 12,430,206	D607G	possibly damaging	Het
Pkd1l2	A	T	8: 117,076,182	F233L	possibly damaging	Het
Prl6a1	A	G	13: 27,318,695		probably benign	Het
Ptprz1	A	T	6: 23,042,751	E2058V	probably damaging	Het
Rag1	A	T	2: 101,642,507	N763K	probably damaging	Het
Rhbg	A	C	3: 88,248,453	D63E	probably damaging	Het
Rrm1	T	A	7: 102,457,265	F330L	probably benign	Het
Scaf8	A	T	17: 3,159,293	Q97L	unknown	Het
Sdr9c7	G	A	10: 127,898,882	V80I	probably benign	Het
Slc18a1	A	G	8: 69,075,147	V4A	probably benign	Het
Slco3a1	T	A	7: 74,554,470	I41F	probably benign	Het
Slirp	T	C	12: 87,447,600	V45A	probably damaging	Het
Spata31	A	T	13: 64,922,804	Q922L	probably benign	Het
Spg11	A	G	2: 122,097,321	S661P	possibly damaging	Het
Stab2	G	T	10: 86,846,052	T2495K	probably benign	Het
Supt16	A	G	14: 52,170,875	I871T	probably damaging	Het
Sval2	A	G	6: 41,860,364	Q9R	probably damaging	Het
Syngap1	A	T	17: 26,941,452	M1L	probably benign	Het
Tfpi	A	T	2: 84,453,922	M62K	possibly damaging	Het
Tm4sf1	A	T	3: 57,287,765	Y200*	probably null	Het
Tmc1	A	T	19: 20,900,817	W105R	probably damaging	Het
Tmtc2	T	C	10: 105,190,126	E827G	probably benign	Het
Unc80	T	A	1: 66,606,644	V1493D	possibly damaging	Het
Vmn2r6	G	A	3: 64,559,824	R85W	probably benign	Het
Vwa5a	C	A	9: 38,736,020	S565*	probably null	Het
Xbp1	T	A	11: 5,521,910	V12D	probably benign	Het

Other mutations in Tollip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1404:Tollip	UTSW	7	141884555	missense	probably benign	0.00
R1404:Tollip	UTSW	7	141884555	missense	probably benign	0.00
R1742:Tollip	UTSW	7	141892855	missense	probably damaging	1.00
R2443:Tollip	UTSW	7	141890823	nonsense	probably null
R4092:Tollip	UTSW	7	141884443	missense	probably damaging	1.00
R5192:Tollip	UTSW	7	141892117	missense	probably damaging	1.00
R5614:Tollip	UTSW	7	141892088	missense	probably damaging	1.00
R6132:Tollip	UTSW	7	141889597	missense	probably benign	0.37
R6805:Tollip	UTSW	7	141890845	missense	probably benign	0.21
R6830:Tollip	UTSW	7	141898714	start codon destroyed	probably null	0.00
R7366:Tollip	UTSW	7	141889597	missense	probably benign	0.37
R7509:Tollip	UTSW	7	141892141	missense	probably benign	0.36
R7759:Tollip	UTSW	7	141884539	missense	probably benign
R9574:Tollip	UTSW	7	141891994	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGTGCACATGGGAAATGAG -3'
(R):5'- TGTCTTCAGGGAAAGGGAGC -3'

Sequencing Primer
(F):5'- TGAGATGCAAAGCCCCATG -3'
(R):5'- CTCTAAACTTTGGTAAGGTGAGCAG -3'

Posted On

2020-01-23