Mutagenetix > Incidental Mutation

Incidental Mutation 'R6805:Tollip'

533532

Institutional Source

Beutler Lab

Gene Symbol

Tollip

Ensembl Gene

ENSMUSG00000025139

Gene Name

toll interacting protein

Synonyms

4930403G24Rik, Toll interacting protein, 4931428G15Rik

MMRRC Submission

044918-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R6805 (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 141890845 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 57 (S57P)

Ref Sequence

ENSEMBL: ENSMUSP00000118336 (fasta)

Gene Model

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

AlphaFold

Q9QZ06

Predicted Effect

probably benign
Transcript: ENSMUST00000001950
AA Change: S126P

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000001950
Gene: ENSMUSG00000025139
AA Change: S126P

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: S126P

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000051485
Gene: ENSMUSG00000025139
AA Change: S126P

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: S122P

SMART Domains

Protein: ENSMUSP00000117938
Gene: ENSMUSG00000025139
AA Change: S122P

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: S57P

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000118336
Gene: ENSMUSG00000025139
AA Change: S57P

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: 99.9%
3x: 99.7%
10x: 98.8%
20x: 97.1%

Validation Efficiency

98% (62/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,244,306 (GRCm38)	V2591A	probably benign	Het
4930407I10Rik	A	G	15: 82,062,543 (GRCm38)	T214A	possibly damaging	Het
A930009A15Rik	G	T	10: 115,579,905 (GRCm38)		probably benign	Het
Aadac	A	C	3: 60,037,336 (GRCm38)	D143A	probably benign	Het
Acot10	T	G	15: 20,665,366 (GRCm38)	T430P	probably benign	Het
Adgrb3	T	C	1: 25,826,172 (GRCm38)	T197A	possibly damaging	Het
B230118H07Rik	T	C	2: 101,566,459 (GRCm38)	K192E	probably benign	Het
Bbs1	A	G	19: 4,900,615 (GRCm38)	I200T	probably damaging	Het
C1ra	G	A	6: 124,517,725 (GRCm38)	E316K	probably benign	Het
Cadps	G	A	14: 12,467,103 (GRCm38)	A943V	probably damaging	Het
Cc2d2a	A	G	5: 43,681,331 (GRCm38)	E48G	probably damaging	Het
Clca1	A	T	3: 145,018,667 (GRCm38)	C211S	probably damaging	Het
Col18a1	A	G	10: 77,054,239 (GRCm38)	L1429P	probably damaging	Het
Cul2	T	G	18: 3,421,263 (GRCm38)	Y196D	probably damaging	Het
D630023F18Rik	T	C	1: 65,117,206 (GRCm38)	S43G	probably benign	Het
Ddx39	G	A	8: 83,723,137 (GRCm38)	R427Q	probably damaging	Het
Def6	A	G	17: 28,223,717 (GRCm38)	T285A	probably damaging	Het
Defb21	T	A	2: 152,574,869 (GRCm38)	D88E	probably benign	Het
Defb6	A	G	8: 19,228,101 (GRCm38)	K63R	probably benign	Het
Dnph1	T	C	17: 46,498,744 (GRCm38)	S112P	probably damaging	Het
Dock10	T	A	1: 80,586,690 (GRCm38)	I467L	probably benign	Het
Dspp	C	A	5: 104,175,850 (GRCm38)	H286Q	probably benign	Het
Eya1	T	A	1: 14,183,277 (GRCm38)	T459S	probably benign	Het
Faf1	T	C	4: 109,861,852 (GRCm38)	L385P	probably damaging	Het
Fbxw21	C	A	9: 109,157,565 (GRCm38)	R82L	probably damaging	Het
Fryl	A	G	5: 73,065,094 (GRCm38)	V2048A	probably benign	Het
Galnt5	A	T	2: 58,035,299 (GRCm38)	D864V	possibly damaging	Het
Gata6	T	G	18: 11,054,460 (GRCm38)	S130A	possibly damaging	Het
Gbf1	G	T	19: 46,262,507 (GRCm38)	R434L	probably damaging	Het
Gga3	A	G	11: 115,585,762 (GRCm38)	F709L	probably damaging	Het
Hcar1	A	G	5: 123,879,130 (GRCm38)	V166A	probably benign	Het
Hexa	T	A	9: 59,563,937 (GRCm38)	N491K	possibly damaging	Het
Hpse2	A	T	19: 43,294,321 (GRCm38)	C164*	probably null	Het
Ifi202b	T	C	1: 173,974,989 (GRCm38)	Y93C	probably damaging	Het
Iscu	T	A	5: 113,775,243 (GRCm38)	I79N	probably damaging	Het
Jmjd7	T	A	2: 120,031,323 (GRCm38)	Y182*	probably null	Het
Jup	A	T	11: 100,383,458 (GRCm38)	D135E	probably benign	Het
Kit	T	A	5: 75,652,808 (GRCm38)	I881N	probably damaging	Het
Llgl1	T	A	11: 60,702,865 (GRCm38)	S55T	probably benign	Het
Lonp2	G	A	8: 86,709,096 (GRCm38)	M653I	probably benign	Het
Lrp8	T	C	4: 107,854,320 (GRCm38)	Y307H	probably damaging	Het
Med13	A	T	11: 86,278,796 (GRCm38)	M1914K	possibly damaging	Het
Ms4a1	A	G	19: 11,253,173 (GRCm38)		probably null	Het
Naip1	A	G	13: 100,427,341 (GRCm38)	S439P	probably benign	Het
Nrg1	T	C	8: 31,821,264 (GRCm38)	R476G	probably damaging	Het
Olfr1129	T	A	2: 87,574,918 (GRCm38)		probably null	Het
Olfr835	G	T	9: 19,035,301 (GRCm38)	M59I	probably damaging	Het
Pds5b	T	A	5: 150,805,561 (GRCm38)		probably null	Het
Phf12	G	A	11: 78,027,373 (GRCm38)	G804R	probably damaging	Het
Pou6f2	T	C	13: 18,239,489 (GRCm38)	T234A		Het
Prune2	A	T	19: 17,120,590 (GRCm38)	I1153L	probably benign	Het
Ptprc	C	T	1: 138,067,885 (GRCm38)		probably null	Het
Qpctl	T	C	7: 19,149,154 (GRCm38)	Q11R	probably benign	Het
Rfx4	A	G	10: 84,840,228 (GRCm38)	K103E	possibly damaging	Het
Srcin1	T	A	11: 97,551,980 (GRCm38)		probably null	Het
St6galnac1	G	T	11: 116,768,944 (GRCm38)	A181D	probably damaging	Het
Stk36	T	C	1: 74,622,239 (GRCm38)	V475A	probably benign	Het
Tbc1d21	T	C	9: 58,361,288 (GRCm38)	T263A	possibly damaging	Het
Tex24	A	T	8: 27,345,000 (GRCm38)	K185N	probably damaging	Het
Tnxb	T	A	17: 34,698,153 (GRCm38)	V2174E	possibly damaging	Het
Zbtb49	A	G	5: 38,213,241 (GRCm38)		probably benign	Het
Zfp758	A	G	17: 22,361,669 (GRCm38)	T30A	probably benign	Het

Other mutations in Tollip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1404:Tollip	UTSW	7	141,884,555 (GRCm38)	missense	probably benign	0.00
R1404:Tollip	UTSW	7	141,884,555 (GRCm38)	missense	probably benign	0.00
R1742:Tollip	UTSW	7	141,892,855 (GRCm38)	missense	probably damaging	1.00
R2443:Tollip	UTSW	7	141,890,823 (GRCm38)	nonsense	probably null
R4092:Tollip	UTSW	7	141,884,443 (GRCm38)	missense	probably damaging	1.00
R5192:Tollip	UTSW	7	141,892,117 (GRCm38)	missense	probably damaging	1.00
R5614:Tollip	UTSW	7	141,892,088 (GRCm38)	missense	probably damaging	1.00
R6132:Tollip	UTSW	7	141,889,597 (GRCm38)	missense	probably benign	0.37
R6830:Tollip	UTSW	7	141,898,714 (GRCm38)	start codon destroyed	probably null	0.00
R7366:Tollip	UTSW	7	141,889,597 (GRCm38)	missense	probably benign	0.37
R7509:Tollip	UTSW	7	141,892,141 (GRCm38)	missense	probably benign	0.36
R7759:Tollip	UTSW	7	141,884,539 (GRCm38)	missense	probably benign
R8024:Tollip	UTSW	7	141,892,826 (GRCm38)	missense	probably benign
R9574:Tollip	UTSW	7	141,891,994 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGGGATTCTGGGAGCCATAG -3'
(R):5'- TCCTTGACGGAAGATGGAGC -3'

Sequencing Primer
(F):5'- CCATAGCTGCCTCAAGGAG -3'
(R):5'- TTGACGGAAGATGGAGCAGTGAG -3'

Posted On

2018-09-12