Mutagenetix > Incidental Mutation

Incidental Mutation 'R7750:Thop1'

597162

Institutional Source

Beutler Lab

Gene Symbol

Thop1

Ensembl Gene

ENSMUSG00000004929

Gene Name

thimet oligopeptidase 1

Synonyms

EP24.15

MMRRC Submission

045806-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.628) question?

Stock #

R7750 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80905917-80918194 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 80916025 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 403 (A403S)

Ref Sequence

ENSEMBL: ENSMUSP00000005057 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000005057
AA Change: A403S

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

SMART Domains

Protein: ENSMUSP00000005057
Gene: ENSMUSG00000004929
AA Change: A403S

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

Meta Mutation Damage Score

0.1218

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (56/56)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,075,199 (GRCm39)	D816V	possibly damaging	Het
Abca16	A	T	7: 120,113,928 (GRCm39)	N933I	probably benign	Het
Acly	A	T	11: 100,368,839 (GRCm39)		probably null	Het
Acox1	C	T	11: 116,074,406 (GRCm39)	G105D	possibly damaging	Het
Ankrd24	A	G	10: 81,482,628 (GRCm39)	E939G	possibly damaging	Het
Bard1	T	A	1: 71,106,101 (GRCm39)		probably null	Het
Brd4	G	T	17: 32,432,521 (GRCm39)	N579K	unknown	Het
C1qc	T	C	4: 136,617,592 (GRCm39)	Y168C	probably damaging	Het
Casp6	A	G	3: 129,705,858 (GRCm39)	D175G	probably damaging	Het
Ccdc83	A	T	7: 89,873,190 (GRCm39)	Y388*	probably null	Het
Clasrp	A	T	7: 19,318,516 (GRCm39)	*628R	probably null	Het
Cox4i1	A	G	8: 121,400,049 (GRCm39)	I111V	probably benign	Het
Cpvl	T	A	6: 53,903,886 (GRCm39)	D293V	probably damaging	Het
Epb41l4b	C	T	4: 57,076,913 (GRCm39)		probably null	Het
Frem2	C	A	3: 53,431,103 (GRCm39)	L2743F	possibly damaging	Het
Frmd4a	A	T	2: 4,606,160 (GRCm39)	H628L	probably benign	Het
Fyb1	A	G	15: 6,690,184 (GRCm39)	D809G	probably damaging	Het
Gm19410	T	A	8: 36,274,652 (GRCm39)	M1491K	possibly damaging	Het
Gm3604	G	A	13: 62,517,810 (GRCm39)	H183Y	possibly damaging	Het
H1f7	A	G	15: 98,154,565 (GRCm39)	S195P	unknown	Het
Lama2	T	C	10: 26,866,920 (GRCm39)	Y2858C	probably damaging	Het
Methig1	T	C	15: 100,251,412 (GRCm39)	F108L	probably benign	Het
Mfsd4b5	A	G	10: 39,846,251 (GRCm39)	V443A	probably damaging	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Myh9	C	T	15: 77,667,610 (GRCm39)	V608I	probably benign	Het
Myo1g	T	C	11: 6,464,849 (GRCm39)	D475G	probably damaging	Het
Neb	A	C	2: 52,170,728 (GRCm39)		probably null	Het
Nlrp1b	T	A	11: 71,059,665 (GRCm39)	I769F	probably benign	Het
Nol8	G	T	13: 49,815,742 (GRCm39)	V617F	possibly damaging	Het
Or2d2b	A	T	7: 106,705,740 (GRCm39)	C109*	probably null	Het
Pik3r2	A	G	8: 71,223,545 (GRCm39)	F346S	probably damaging	Het
Pou3f3	T	A	1: 42,737,308 (GRCm39)	F335I	probably damaging	Het
Ppp1r3e	T	C	14: 55,114,084 (GRCm39)	D196G	probably damaging	Het
Prpf40a	T	C	2: 53,041,757 (GRCm39)	T545A	probably damaging	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rprd1a	T	A	18: 24,641,311 (GRCm39)	K102*	probably null	Het
Sim1	A	G	10: 50,772,131 (GRCm39)	T47A	possibly damaging	Het
Slc45a1	C	T	4: 150,728,498 (GRCm39)	A102T	probably damaging	Het
Slc6a11	C	T	6: 114,207,098 (GRCm39)	P361S	possibly damaging	Het
Slc9b2	T	C	3: 135,031,998 (GRCm39)	F286S	probably damaging	Het
Slco4a1	T	C	2: 180,113,030 (GRCm39)	S421P	probably benign	Het
Snap91	A	C	9: 86,680,762 (GRCm39)		probably null	Het
Sppl2a	A	G	2: 126,761,625 (GRCm39)	L293P	probably damaging	Het
Sval3	T	A	6: 41,949,360 (GRCm39)	I66K	possibly damaging	Het
Synj2bp	T	C	12: 81,551,311 (GRCm39)	I85V	probably benign	Het
Timd4	T	A	11: 46,706,354 (GRCm39)	M52K	probably damaging	Het
Tmco5b	A	G	2: 113,118,609 (GRCm39)	N111D	probably damaging	Het
Trip10	G	A	17: 57,568,667 (GRCm39)	V419I	possibly damaging	Het
Trpv3	T	C	11: 73,176,847 (GRCm39)	Y409H	probably damaging	Het
Tulp4	A	G	17: 6,283,399 (GRCm39)	T1143A	probably damaging	Het
Ugt2b5	A	T	5: 87,288,108 (GRCm39)	S20T	probably benign	Het
Unc5b	A	G	10: 60,610,823 (GRCm39)	F406L	probably benign	Het
Usf3	A	G	16: 44,040,884 (GRCm39)	E1788G	probably benign	Het
Usp45	A	G	4: 21,780,430 (GRCm39)	D27G	probably damaging	Het
Vmn2r100	G	A	17: 19,742,726 (GRCm39)	V367I	probably benign	Het
Vmn2r49	T	A	7: 9,710,185 (GRCm39)	K849I	probably damaging	Het
Zfp119b	A	T	17: 56,245,682 (GRCm39)	H501Q	probably damaging	Het
Zfp462	C	A	4: 55,016,958 (GRCm39)	H893N	probably benign	Het
Zkscan4	A	G	13: 21,663,525 (GRCm39)	E88G	probably damaging	Het

Other mutations in Thop1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00792:Thop1	APN	10	80,914,433 (GRCm39)	nonsense	probably null
IGL00987:Thop1	APN	10	80,917,529 (GRCm39)	missense	probably damaging	0.99
R0241:Thop1	UTSW	10	80,916,079 (GRCm39)	unclassified	probably benign
R0842:Thop1	UTSW	10	80,911,411 (GRCm39)	missense	probably damaging	1.00
R1800:Thop1	UTSW	10	80,909,043 (GRCm39)	missense	probably damaging	1.00
R1863:Thop1	UTSW	10	80,909,151 (GRCm39)	missense	probably damaging	0.98
R2507:Thop1	UTSW	10	80,906,098 (GRCm39)	start codon destroyed	probably null	0.47
R2905:Thop1	UTSW	10	80,915,425 (GRCm39)	missense	probably damaging	1.00
R2930:Thop1	UTSW	10	80,909,148 (GRCm39)	missense	probably damaging	0.98
R3898:Thop1	UTSW	10	80,916,278 (GRCm39)	missense	probably damaging	1.00
R3899:Thop1	UTSW	10	80,916,278 (GRCm39)	missense	probably damaging	1.00
R4911:Thop1	UTSW	10	80,909,125 (GRCm39)	missense	probably damaging	1.00
R4924:Thop1	UTSW	10	80,916,028 (GRCm39)	missense	probably benign	0.11
R4926:Thop1	UTSW	10	80,909,201 (GRCm39)	critical splice donor site	probably null
R5092:Thop1	UTSW	10	80,916,412 (GRCm39)	missense	probably damaging	1.00
R5968:Thop1	UTSW	10	80,911,393 (GRCm39)	missense	probably benign	0.07
R6370:Thop1	UTSW	10	80,913,817 (GRCm39)	missense	probably benign	0.00
R6733:Thop1	UTSW	10	80,917,246 (GRCm39)	missense	probably damaging	0.98
R6853:Thop1	UTSW	10	80,911,495 (GRCm39)	critical splice donor site	probably null
R7355:Thop1	UTSW	10	80,911,465 (GRCm39)	missense	probably damaging	1.00
R8030:Thop1	UTSW	10	80,911,450 (GRCm39)	missense	possibly damaging	0.91
R8070:Thop1	UTSW	10	80,915,320 (GRCm39)	missense	probably damaging	1.00
R8415:Thop1	UTSW	10	80,914,385 (GRCm39)	missense	probably damaging	1.00
R8899:Thop1	UTSW	10	80,916,440 (GRCm39)	missense	probably damaging	1.00
R8992:Thop1	UTSW	10	80,915,972 (GRCm39)	missense	possibly damaging	0.53
R9041:Thop1	UTSW	10	80,917,228 (GRCm39)	missense	possibly damaging	0.74
R9422:Thop1	UTSW	10	80,916,001 (GRCm39)	missense	probably damaging	0.98
Z1191:Thop1	UTSW	10	80,909,043 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCATCCTGGAGCTGAAGGAG -3'
(R):5'- AGAGCCAATGTTCAGTGCCTG -3'

Sequencing Primer
(F):5'- TGCGCTACTACATGAACCAGGTG -3'
(R):5'- AAGCTGCCCTGGACTTC -3'

Posted On

2019-11-26