Mutagenetix > Incidental Mutation

Incidental Mutation 'R5614:Tollip'

438141

Institutional Source

Beutler Lab

Gene Symbol

Tollip

Ensembl Gene

ENSMUSG00000025139

Gene Name

toll interacting protein

Synonyms

4930403G24Rik, Toll interacting protein, 4931428G15Rik

MMRRC Submission

043275-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R5614 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

141874813-141918507 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141892088 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 19 (T19A)

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: T88A

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

SMART Domains

Protein: ENSMUSP00000001950
Gene: ENSMUSG00000025139
AA Change: T88A

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 damaging
Transcript: ENSMUST00000055819
AA Change: T88A

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

SMART Domains

Protein: ENSMUSP00000051485
Gene: ENSMUSG00000025139
AA Change: T88A

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

probably damaging
Transcript: ENSMUST00000130439
AA Change: T84A

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

SMART Domains

Protein: ENSMUSP00000117938
Gene: ENSMUSG00000025139
AA Change: T84A

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: T19A

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

SMART Domains

Protein: ENSMUSP00000118336
Gene: ENSMUSG00000025139
AA Change: T19A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211231

Meta Mutation Damage Score

0.9535

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

100% (62/62)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	G	A	5: 24,550,142	A330V	probably benign	Het
Abca1	A	G	4: 53,046,132	V1712A	probably damaging	Het
Ankmy2	T	C	12: 36,193,784	S333P	probably damaging	Het
Arfrp1	A	G	2: 181,359,443		probably benign	Het
Atp13a2	A	G	4: 140,992,182	T21A	probably benign	Het
Bud23	C	A	5: 135,059,112	A152S	probably benign	Het
Cant1	T	C	11: 118,408,743	D260G	probably benign	Het
Ces1b	T	C	8: 93,068,208	I254M	probably benign	Het
Ces1d	T	C	8: 93,176,204	T375A	probably benign	Het
Cfap54	A	G	10: 93,045,049	L384P	probably damaging	Het
Chrne	C	T	11: 70,615,053	V469I	possibly damaging	Het
Clspn	A	G	4: 126,580,962	E968G	probably damaging	Het
Col5a3	A	G	9: 20,783,476		probably benign	Het
Dtx4	T	C	19: 12,482,183	Y419C	probably damaging	Het
Fam171b	T	A	2: 83,812,873	I42N	probably damaging	Het
Fam43a	T	C	16: 30,601,672	I358T	possibly damaging	Het
Fasn	T	C	11: 120,813,328	S1422G	probably benign	Het
Fig4	A	T	10: 41,272,985	V157E	probably damaging	Het
Fus	T	C	7: 127,974,371		probably benign	Het
Hmcn2	G	T	2: 31,428,303	V3887F	probably damaging	Het
Hmgcll1	A	G	9: 76,081,393	Y182C	probably damaging	Het
Hook2	T	A	8: 85,002,508	I585N	probably damaging	Het
Iars2	T	C	1: 185,289,508	T866A	probably benign	Het
Lrit1	T	A	14: 37,061,954	M413K	probably benign	Het
Myl9	G	A	2: 156,781,163		probably benign	Het
Nelfa	A	T	5: 33,920,500	L179Q	probably damaging	Het
Nod2	A	T	8: 88,664,196	D355V	probably damaging	Het
Npbwr1	A	T	1: 5,916,811	S161R	probably damaging	Het
Nxpe2	A	T	9: 48,323,101	F289I	probably benign	Het
Odf2	A	G	2: 29,920,867	I538M	probably damaging	Het
Osbpl6	T	A	2: 76,568,109	V379E	probably damaging	Het
Pkhd1	A	G	1: 20,073,526	C3859R	possibly damaging	Het
Rgs1	G	T	1: 144,246,257	T99N	probably benign	Het
Rnf6	T	C	5: 146,218,100		probably null	Het
Rtp1	C	A	16: 23,431,190	Q102K	possibly damaging	Het
Sec24c	T	A	14: 20,682,738	V123E	possibly damaging	Het
Serpini2	T	C	3: 75,257,707		probably benign	Het
Stxbp5	A	T	10: 9,760,894		probably benign	Het
Tecta	A	G	9: 42,339,055	S1809P	probably damaging	Het
Tgfb2	T	A	1: 186,625,513	I394F	probably benign	Het
Thg1l	T	C	11: 45,950,227	Y175C	possibly damaging	Het
Tmem67	C	A	4: 12,061,755	K572N	possibly damaging	Het
Ttn	A	G	2: 76,712,107	Y25185H	probably damaging	Het
Vgll2	A	T	10: 52,025,222	R83*	probably null	Het
Wfdc8	G	T	2: 164,603,203	A164E	probably damaging	Het
Ylpm1	T	C	12: 85,064,944		probably benign	Het
Zfp326	T	A	5: 105,888,495	S91T	probably damaging	Het
Zfp638	T	C	6: 83,929,641	F263L	probably damaging	Het
Zfp800	G	A	6: 28,243,136	T610I	probably damaging	Het
Zmym4	A	G	4: 126,910,936	F475L	possibly damaging	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
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
R8024:Tollip	UTSW	7	141892826	missense	probably benign
R9574:Tollip	UTSW	7	141891994	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTACAGCACACCCATGTCTG -3'
(R):5'- GCATGTTCAAGAGCAGGTTAC -3'

Sequencing Primer
(F):5'- TGTCTGTCAGATCCCAAACTAG -3'
(R):5'- CTGACACGATTAGGTGAACTTG -3'

Posted On

2016-10-26