Mutagenetix > Incidental Mutation

Incidental Mutation 'R6132:Tollip'

487179

Institutional Source

Beutler Lab

Gene Symbol

Tollip

Ensembl Gene

ENSMUSG00000025139

Gene Name

toll interacting protein

Synonyms

4930403G24Rik, Toll interacting protein, 4931428G15Rik

MMRRC Submission

044279-MU

Accession Numbers

Essential gene?

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

Stock #

R6132 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141874813-141918507 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 141889597 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 174 (S174P)

Ref Sequence

ENSEMBL: ENSMUSP00000051485 (fasta)

Gene Model

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

AlphaFold

Q9QZ06

Predicted Effect

probably benign
Transcript: ENSMUST00000001950
AA Change: S174P

PolyPhen 2 Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000001950
Gene: ENSMUSG00000025139
AA Change: S174P

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: S174P

PolyPhen 2 Score 0.371 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000051485
Gene: ENSMUSG00000025139
AA Change: S174P

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

unknown
Transcript: ENSMUST00000130439
AA Change: S170P

SMART Domains

Protein: ENSMUSP00000117938
Gene: ENSMUSG00000025139
AA Change: S170P

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
AA Change: S105P

PolyPhen 2 Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000118336
Gene: ENSMUSG00000025139
AA Change: S105P

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

96% (49/51)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110017D15Rik	C	T	4: 41,517,160	M1I	probably null	Het
Abca15	T	C	7: 120,361,420	Y702H	probably benign	Het
Adgrv1	G	T	13: 81,506,076	N2225K	probably benign	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Alkbh5	G	T	11: 60,537,995		probably benign	Het
Atp5g1	A	G	11: 96,075,024	M1T	probably null	Het
Crebrf	C	T	17: 26,763,403	P588S	probably benign	Het
Ctsr	A	C	13: 61,161,768		probably null	Het
Cyp2c68	A	G	19: 39,703,414	V355A	possibly damaging	Het
Ddx52	A	G	11: 83,959,457	K555E	possibly damaging	Het
Depdc5	T	A	5: 32,910,467	S410T	probably damaging	Het
Dhx30	A	T	9: 110,085,779	I884N	probably damaging	Het
Dlg1	A	T	16: 31,836,241	N518I	possibly damaging	Het
Dnah12	T	A	14: 26,717,911	I506N	probably damaging	Het
Efcab6	A	G	15: 84,032,972	L129P	probably damaging	Het
Erap1	A	G	13: 74,660,282	N38D	probably benign	Het
Esf1	A	G	2: 140,159,779	F383L	probably benign	Het
Exoc4	A	G	6: 33,758,098	E550G	probably damaging	Het
Fbxo44	G	A	4: 148,156,108	T221I	probably benign	Het
Gal3st2b	A	T	1: 93,939,966	M112L	possibly damaging	Het
Golph3l	C	G	3: 95,591,834	P96A	probably benign	Het
Gprc6a	T	A	10: 51,615,260	I727F	possibly damaging	Het
Grin3b	T	C	10: 79,976,440	L479P	probably damaging	Het
Kdm5a	C	T	6: 120,374,931	H161Y	probably damaging	Het
Lman2	A	G	13: 55,362,225	S73P	probably benign	Het
Map3k19	T	C	1: 127,850,476	N4S	possibly damaging	Het
Mkln1	G	A	6: 31,431,220	V161M	probably damaging	Het
Mmel1	C	T	4: 154,895,018	H728Y	probably damaging	Het
Nova2	G	A	7: 18,957,869	A244T	unknown	Het
Nrcam	T	A	12: 44,570,224	Y668N	probably damaging	Het
Oacyl	G	T	18: 65,726,355	G255W	probably damaging	Het
Olfr201	A	G	16: 59,269,004	V221A	probably damaging	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540		probably null	Het
Olfr994	A	T	2: 85,430,146	S228T	probably benign	Het
Omd	A	C	13: 49,590,367	I298L	probably damaging	Het
Otor	A	T	2: 143,078,600	D34V	probably damaging	Het
Otx1	A	T	11: 21,999,406	L24H	probably damaging	Het
Pwwp2a	A	G	11: 43,705,628	Y540C	probably damaging	Het
Rttn	T	A	18: 89,115,646		probably null	Het
S1pr4	G	A	10: 81,499,196	A148V	probably benign	Het
Scn10a	C	T	9: 119,613,695	V1495M	possibly damaging	Het
Sel1l3	T	C	5: 53,200,189	K154E	possibly damaging	Het
Sema3a	T	G	5: 13,523,175		probably null	Het
Slf2	T	A	19: 44,960,861	N870K	possibly damaging	Het
Syne2	T	C	12: 75,945,147	V1962A	probably benign	Het
Tarbp1	T	A	8: 126,434,809	I1219F	probably benign	Het
Tet1	A	C	10: 62,813,300	C173W	probably damaging	Het
Tnn	A	G	1: 160,146,071	F242S	probably damaging	Het
Tsr3	G	T	17: 25,241,861	D234Y	probably null	Het
Vmn2r106	T	C	17: 20,268,404	T578A	probably benign	Het
Zfp457	G	T	13: 67,293,296	S309*	probably null	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
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'- GGATCCTCATTTAAAGCAGCC -3'
(R):5'- TTGTCTAGCTGAAGGGAGGCAG -3'

Sequencing Primer
(F):5'- GCCATGCTTACACAATTCTACAC -3'
(R):5'- CTGAAGGGAGGCAGTCTGC -3'

Posted On

2017-10-10