Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01371:Trhde'

76136

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trhde

Ensembl Gene

ENSMUSG00000050663

Gene Name

TRH-degrading enzyme

Synonyms

9330155P21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

IGL01371

Quality Score

Status

Chromosome

Chromosomal Location

114234725-114638207 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 114424405 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 460 (V460E)

Ref Sequence

ENSEMBL: ENSMUSP00000057449 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061632]

AlphaFold

Q8K093

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061632
AA Change: V460E

PolyPhen 2 Score 0.567 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000057449
Gene: ENSMUSG00000050663
AA Change: V460E

Domain	Start	End	E-Value	Type
transmembrane domain	40	62	N/A	INTRINSIC
Pfam:Peptidase_M1	141	531	2.6e-141	PFAM
Pfam:ERAP1_C	679	1004	5.7e-65	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152702

Meta Mutation Damage Score

0.9185

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peptidase M1 family. The encoded protein is an extracellular peptidase that specifically cleaves and inactivates the neuropeptide thyrotropin-releasing hormone.[provided by RefSeq, Dec 2008]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	C	T	6: 142,602,340 (GRCm39)	R691Q	probably benign	Het
Ambra1	G	T	2: 91,655,631 (GRCm39)	G700W	probably damaging	Het
Atp6v1c1	A	G	15: 38,683,204 (GRCm39)	I198V	probably benign	Het
Bptf	T	C	11: 106,946,733 (GRCm39)	N2353S	probably benign	Het
Cd84	A	T	1: 171,713,937 (GRCm39)	T312S	probably benign	Het
Chl1	G	T	6: 103,692,325 (GRCm39)	C1064F	probably damaging	Het
Clca4a	T	C	3: 144,666,433 (GRCm39)	D473G	probably damaging	Het
Dsp	A	G	13: 38,377,593 (GRCm39)	R1793G	probably benign	Het
Dync1h1	A	G	12: 110,605,285 (GRCm39)	N2374S	probably benign	Het
Ecpas	A	G	4: 58,809,718 (GRCm39)	L1583P	probably damaging	Het
Gm43191	A	T	3: 116,439,112 (GRCm39)	I130N	probably damaging	Het
Gm5134	T	G	10: 75,840,581 (GRCm39)	L475R	probably damaging	Het
Grm1	A	G	10: 10,595,783 (GRCm39)	V615A	probably benign	Het
Inhca	T	C	9: 103,131,975 (GRCm39)	E504G	possibly damaging	Het
Loxl1	T	A	9: 58,201,705 (GRCm39)	Q462L	possibly damaging	Het
Nwd1	T	C	8: 73,401,743 (GRCm39)	W755R	probably damaging	Het
Or10j27	A	G	1: 172,958,098 (GRCm39)	S229P	possibly damaging	Het
Or5b106	G	A	19: 13,123,192 (GRCm39)	T277I	possibly damaging	Het
Or5t17	A	T	2: 86,833,267 (GRCm39)	K318M	probably benign	Het
Otud4	T	C	8: 80,400,390 (GRCm39)	F1034L	probably damaging	Het
Pakap	C	A	4: 57,856,325 (GRCm39)	D551E	probably benign	Het
Panx3	T	G	9: 37,572,771 (GRCm39)	T260P	probably benign	Het
Ppfia4	A	T	1: 134,255,824 (GRCm39)	S194T	probably benign	Het
Rnf135	T	A	11: 80,080,081 (GRCm39)	I124N	probably benign	Het
Rpf1	T	C	3: 146,213,302 (GRCm39)	N283S	probably damaging	Het
Smg5	A	G	3: 88,266,951 (GRCm39)		probably benign	Het
Stard9	A	G	2: 120,531,849 (GRCm39)	E2702G	probably benign	Het
Tbk1	A	T	10: 121,395,776 (GRCm39)	M439K	probably benign	Het
Tmem235	T	C	11: 117,753,132 (GRCm39)	L85P	possibly damaging	Het
Ttn	T	C	2: 76,620,608 (GRCm39)		probably benign	Het
Vmn1r83	A	G	7: 12,055,160 (GRCm39)	F299S	probably benign	Het

Other mutations in Trhde

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Trhde	APN	10	114,322,652 (GRCm39)	missense	possibly damaging	0.77
IGL00516:Trhde	APN	10	114,282,104 (GRCm39)	missense	probably benign	0.01
IGL01488:Trhde	APN	10	114,282,063 (GRCm39)	missense	possibly damaging	0.58
IGL01602:Trhde	APN	10	114,623,848 (GRCm39)	missense	probably benign
IGL01605:Trhde	APN	10	114,623,848 (GRCm39)	missense	probably benign
IGL02150:Trhde	APN	10	114,428,013 (GRCm39)	missense	probably damaging	1.00
IGL02165:Trhde	APN	10	114,428,066 (GRCm39)	missense	probably damaging	1.00
IGL02340:Trhde	APN	10	114,428,118 (GRCm39)	splice site	probably benign
IGL02412:Trhde	APN	10	114,322,830 (GRCm39)	missense	probably damaging	1.00
IGL02421:Trhde	APN	10	114,248,366 (GRCm39)	missense	probably damaging	1.00
IGL02496:Trhde	APN	10	114,636,466 (GRCm39)	nonsense	probably null
IGL02952:Trhde	APN	10	114,636,478 (GRCm39)	missense	probably damaging	0.99
IGL03197:Trhde	APN	10	114,249,213 (GRCm39)	missense	probably benign	0.00
Cata	UTSW	10	114,427,971 (GRCm39)	missense	probably damaging	1.00
l3-37	UTSW	10	114,636,986 (GRCm39)	missense	probably benign
Pelte	UTSW	10	114,322,609 (GRCm39)	critical splice donor site	probably null
G1Funyon:Trhde	UTSW	10	114,322,911 (GRCm39)	missense	probably benign	0.03
R0360:Trhde	UTSW	10	114,338,887 (GRCm39)	splice site	probably benign
R0364:Trhde	UTSW	10	114,338,887 (GRCm39)	splice site	probably benign
R0457:Trhde	UTSW	10	114,284,167 (GRCm39)	missense	probably benign	0.37
R0589:Trhde	UTSW	10	114,284,229 (GRCm39)	missense	probably benign	0.01
R1132:Trhde	UTSW	10	114,248,383 (GRCm39)	missense	possibly damaging	0.86
R1288:Trhde	UTSW	10	114,637,195 (GRCm39)	missense	probably benign	0.37
R1569:Trhde	UTSW	10	114,282,093 (GRCm39)	missense	possibly damaging	0.78
R1776:Trhde	UTSW	10	114,636,508 (GRCm39)	missense	probably benign	0.06
R1781:Trhde	UTSW	10	114,424,405 (GRCm39)	missense	possibly damaging	0.57
R1927:Trhde	UTSW	10	114,636,754 (GRCm39)	missense	probably damaging	1.00
R1976:Trhde	UTSW	10	114,424,336 (GRCm39)	missense	possibly damaging	0.57
R2011:Trhde	UTSW	10	114,334,698 (GRCm39)	missense	probably benign	0.02
R2332:Trhde	UTSW	10	114,428,070 (GRCm39)	missense	probably damaging	1.00
R2356:Trhde	UTSW	10	114,237,421 (GRCm39)	missense	probably damaging	1.00
R3107:Trhde	UTSW	10	114,427,971 (GRCm39)	missense	probably damaging	1.00
R3108:Trhde	UTSW	10	114,427,971 (GRCm39)	missense	probably damaging	1.00
R3907:Trhde	UTSW	10	114,636,601 (GRCm39)	missense	possibly damaging	0.72
R4067:Trhde	UTSW	10	114,280,585 (GRCm39)	nonsense	probably null
R4214:Trhde	UTSW	10	114,623,975 (GRCm39)	missense	possibly damaging	0.51
R4428:Trhde	UTSW	10	114,339,028 (GRCm39)	missense	probably damaging	1.00
R4429:Trhde	UTSW	10	114,339,028 (GRCm39)	missense	probably damaging	1.00
R4430:Trhde	UTSW	10	114,339,028 (GRCm39)	missense	probably damaging	1.00
R5244:Trhde	UTSW	10	114,636,986 (GRCm39)	missense	probably benign
R5456:Trhde	UTSW	10	114,322,665 (GRCm39)	missense	possibly damaging	0.58
R5540:Trhde	UTSW	10	114,636,497 (GRCm39)	missense	probably benign	0.45
R5699:Trhde	UTSW	10	114,424,407 (GRCm39)	missense	probably benign	0.00
R5967:Trhde	UTSW	10	114,403,039 (GRCm39)	missense	probably damaging	1.00
R6326:Trhde	UTSW	10	114,403,129 (GRCm39)	missense	probably damaging	1.00
R6467:Trhde	UTSW	10	114,340,103 (GRCm39)	missense	probably damaging	1.00
R7028:Trhde	UTSW	10	114,354,082 (GRCm39)	missense	probably damaging	1.00
R7264:Trhde	UTSW	10	114,636,776 (GRCm39)	missense	possibly damaging	0.93
R7266:Trhde	UTSW	10	114,636,776 (GRCm39)	missense	possibly damaging	0.93
R7310:Trhde	UTSW	10	114,636,478 (GRCm39)	missense	probably damaging	0.99
R7460:Trhde	UTSW	10	114,249,168 (GRCm39)	missense	probably damaging	1.00
R7732:Trhde	UTSW	10	114,623,969 (GRCm39)	missense	probably benign
R7842:Trhde	UTSW	10	114,532,003 (GRCm39)	missense	possibly damaging	0.86
R8178:Trhde	UTSW	10	114,244,598 (GRCm39)	missense	possibly damaging	0.93
R8209:Trhde	UTSW	10	114,403,133 (GRCm39)	missense	probably damaging	1.00
R8226:Trhde	UTSW	10	114,403,133 (GRCm39)	missense	probably damaging	1.00
R8232:Trhde	UTSW	10	114,636,442 (GRCm39)	missense	possibly damaging	0.90
R8301:Trhde	UTSW	10	114,322,911 (GRCm39)	missense	probably benign	0.03
R8312:Trhde	UTSW	10	114,249,192 (GRCm39)	missense	probably damaging	1.00
R8335:Trhde	UTSW	10	114,322,609 (GRCm39)	critical splice donor site	probably null
R8477:Trhde	UTSW	10	114,636,622 (GRCm39)	missense	probably benign	0.02
R8853:Trhde	UTSW	10	114,636,830 (GRCm39)	missense	probably benign
R8953:Trhde	UTSW	10	114,338,966 (GRCm39)	missense	probably damaging	0.98
R9375:Trhde	UTSW	10	114,244,598 (GRCm39)	missense	probably damaging	0.99
R9477:Trhde	UTSW	10	114,338,980 (GRCm39)	missense	probably benign	0.03
R9486:Trhde	UTSW	10	114,532,014 (GRCm39)	missense	possibly damaging	0.89
R9502:Trhde	UTSW	10	114,636,697 (GRCm39)	missense	probably damaging	1.00
Z1177:Trhde	UTSW	10	114,284,294 (GRCm39)	critical splice acceptor site	probably null

Posted On

2013-10-07