Mutagenetix > Incidental Mutations

Incidental Mutation 'R8070:Thop1'

620246

Institutional Source

Beutler Lab

Gene Symbol

Thop1

Ensembl Gene

ENSMUSG00000004929

Gene Name

thimet oligopeptidase 1

Synonyms

EP24.15

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.584) question?

Stock #

R8070 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81070035-81082559 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81079486 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 260 (V260A)

Ref Sequence

ENSEMBL: ENSMUSP00000005057 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005057] [ENSMUST00000117422]

Predicted Effect

probably damaging
Transcript: ENSMUST00000005057
AA Change: V260A

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

SMART Domains

Protein: ENSMUSP00000005057
Gene: ENSMUSG00000004929
AA Change: V260A

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M3	227	677	7e-165	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117422

SMART Domains

Protein: ENSMUSP00000112836
Gene: ENSMUSG00000035041

Domain	Start	End	E-Value	Type
low complexity region	179	199	N/A	INTRINSIC
BRLZ	237	301	4.36e-15	SMART

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a kininase that uses zinc as a cofactor. The encoded oligopeptidase cleaves cytosolic peptides, making them unavailable for display on antigen-presenting cells. This protein also cleaves neuropeptides under 20 aa in length and can degrade beta-amyloid precursor protein to amyloidogenic peptides. [provided by RefSeq, Nov 2015]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	A	G	5: 63,898,167	E82G	probably benign	Het
9830107B12Rik	A	G	17: 48,145,510	F86S	probably damaging	Het
Aamdc	A	T	7: 97,575,648	Y2*	probably null	Het
Acta1	T	A	8: 123,893,621	D26V	possibly damaging	Het
Adra1d	A	C	2: 131,561,582	L196R	probably damaging	Het
Agbl2	G	A	2: 90,791,565	C132Y	probably benign	Het
Amd1	A	G	10: 40,294,230	V92A	probably benign	Het
Arid4b	T	A	13: 14,136,259	I149K	probably benign	Het
Atg7	A	G	6: 114,697,080	M312V	probably benign	Het
Bap1	T	A	14: 31,256,686	V381E	probably damaging	Het
Cbfa2t3	C	T	8: 122,642,981	V207I	possibly damaging	Het
Cdh24	T	C	14: 54,632,573	Q629R	probably benign	Het
Cdhr2	G	T	13: 54,719,793	V479L	probably benign	Het
Chd2	A	G	7: 73,451,758	S1407P	probably benign	Het
Clstn2	A	G	9: 97,799,470	V39A	possibly damaging	Het
Cwh43	T	A	5: 73,421,463	M357K	possibly damaging	Het
Dcdc2a	T	A	13: 25,202,197	D351E	probably benign	Het
Dennd6b	T	C	15: 89,185,373	I517V	probably benign	Het
Dnah17	T	C	11: 118,024,671	E4374G	probably damaging	Het
Emsy	A	G	7: 98,626,715	S336P	possibly damaging	Het
Enoph1	A	T	5: 100,060,982	E65D	probably benign	Het
Fam83f	T	A	15: 80,672,080	L55Q	probably damaging	Het
Fry	T	C	5: 150,478,007	F379L		Het
Fscb	A	T	12: 64,474,608	M28K	probably benign	Het
Gas7	G	A	11: 67,683,434	V412M	probably damaging	Het
Gatad1	T	C	5: 3,643,540	R210G	probably benign	Het
Gcn1l1	T	A	5: 115,588,998	V638E	probably benign	Het
Ggt1	A	T	10: 75,578,899	I184F	probably damaging	Het
Gigyf2	A	G	1: 87,440,907	N1103S	probably benign	Het
Gm13757	G	T	2: 88,446,659	T93K	probably benign	Het
Gm5592	G	A	7: 41,286,463	A130T	possibly damaging	Het
Gys2	T	C	6: 142,448,504		probably null	Het
Hmcn1	C	A	1: 150,649,992	E3327*	probably null	Het
Ighv1-36	C	T	12: 114,880,036	G68E	probably damaging	Het
Igkv6-32	G	A	6: 70,074,105	T89M	probably damaging	Het
Ipo7	A	G	7: 110,052,807	D931G	probably benign	Het
Jakmip1	A	G	5: 37,173,287	E437G	probably benign	Het
Lingo3	C	T	10: 80,836,121		probably benign	Het
Lnpep	A	G	17: 17,538,638	S815P	probably damaging	Het
Ly6a	T	C	15: 74,997,600	D2G	probably damaging	Het
Madd	C	A	2: 91,158,014	E1223*	probably null	Het
Mapk8ip3	A	T	17: 24,901,104		probably null	Het
Mecom	T	C	3: 29,979,838	E239G	probably damaging	Het
Mug1	T	C	6: 121,875,879	V889A	probably benign	Het
Myo18b	T	A	5: 112,791,120	N1675I	probably benign	Het
Ndrg4	T	C	8: 95,700,128	F50L	possibly damaging	Het
Ndst4	A	G	3: 125,714,644	Y286C	probably damaging	Het
Nrp2	C	T	1: 62,745,408	R239C	probably damaging	Het
Olfm3	A	G	3: 115,101,955	D195G	probably damaging	Het
Olfr1384	A	T	11: 49,514,114	T159S	probably damaging	Het
Pds5a	A	G	5: 65,652,398	L407P	possibly damaging	Het
Pgm1	A	G	5: 64,112,082	N504S	probably benign	Het
Plce1	A	G	19: 38,701,839	M656V	probably damaging	Het
Pou6f2	T	C	13: 18,239,624	T189A	unknown	Het
Ppp1r12b	T	C	1: 134,876,069	S451G	probably benign	Het
Prox1	T	G	1: 190,160,910	N446T	probably damaging	Het
Ralgapa2	T	A	2: 146,353,279	R1195S	probably damaging	Het
Rere	A	G	4: 150,617,375	D37G	probably damaging	Het
Tfip11	T	A	5: 112,334,930	M560K	possibly damaging	Het
Tle6	A	G	10: 81,598,642	M41T	possibly damaging	Het
Trav13-4-dv7	T	C	14: 53,757,792	S68P	possibly damaging	Het
Trim24	A	G	6: 37,957,726	N826S	probably damaging	Het
Tuba3a	T	C	6: 125,278,470	E414G	probably damaging	Het
Vmn2r78	A	G	7: 86,922,487	I502V	probably benign	Het
Vmn2r79	A	T	7: 87,002,128	Y245F	probably benign	Het

Other mutations in Thop1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00792:Thop1	APN	10	81078599	nonsense	probably null
IGL00987:Thop1	APN	10	81081695	missense	probably damaging	0.99
R0241:Thop1	UTSW	10	81080245	unclassified	probably benign
R0842:Thop1	UTSW	10	81075577	missense	probably damaging	1.00
R1800:Thop1	UTSW	10	81073209	missense	probably damaging	1.00
R1863:Thop1	UTSW	10	81073317	missense	probably damaging	0.98
R2507:Thop1	UTSW	10	81070264	start codon destroyed	probably null	0.47
R2905:Thop1	UTSW	10	81079591	missense	probably damaging	1.00
R2930:Thop1	UTSW	10	81073314	missense	probably damaging	0.98
R3898:Thop1	UTSW	10	81080444	missense	probably damaging	1.00
R3899:Thop1	UTSW	10	81080444	missense	probably damaging	1.00
R4911:Thop1	UTSW	10	81073291	missense	probably damaging	1.00
R4924:Thop1	UTSW	10	81080194	missense	probably benign	0.11
R4926:Thop1	UTSW	10	81073367	critical splice donor site	probably null
R5092:Thop1	UTSW	10	81080578	missense	probably damaging	1.00
R5968:Thop1	UTSW	10	81075559	missense	probably benign	0.07
R6370:Thop1	UTSW	10	81077983	missense	probably benign	0.00
R6733:Thop1	UTSW	10	81081412	missense	probably damaging	0.98
R6853:Thop1	UTSW	10	81075661	critical splice donor site	probably null
R7355:Thop1	UTSW	10	81075631	missense	probably damaging	1.00
R7750:Thop1	UTSW	10	81080191	missense	probably benign
R8030:Thop1	UTSW	10	81075616	missense	possibly damaging	0.91
R8415:Thop1	UTSW	10	81078551	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTGCGGTGCTCAAATGGAG -3'
(R):5'- TGCAACAGGAGACCTAGCTAC -3'

Sequencing Primer
(F):5'- CTCAAATGGAGCCTGGGC -3'
(R):5'- CCTGACACGGTCATGACAATGG -3'

Posted On

2020-01-23