Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02412:Trhde'

294379

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: 0.103) question?

Stock #

IGL02412

Quality Score

Status

Chromosome

Chromosomal Location

114234725-114638207 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 114322830 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 694 (Y694C)

Ref Sequence

ENSEMBL: ENSMUSP00000057449 (fasta)

Gene Model

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

AlphaFold

Q8K093

Predicted Effect

probably damaging
Transcript: ENSMUST00000061632
AA Change: Y694C

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

SMART Domains

Protein: ENSMUSP00000057449
Gene: ENSMUSG00000050663
AA Change: Y694C

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

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	T	A	6: 85,605,854 (GRCm39)	F2032L	possibly damaging	Het
Caps2	T	C	10: 112,039,941 (GRCm39)		probably null	Het
Ccdc88b	A	T	19: 6,824,012 (GRCm39)	F1414I	probably damaging	Het
Cr1l	T	G	1: 194,797,080 (GRCm39)	Y319S	probably damaging	Het
Cr1l	C	T	1: 194,797,074 (GRCm39)	G283E	probably damaging	Het
Csmd2	G	A	4: 128,407,165 (GRCm39)		probably benign	Het
Dhx37	T	A	5: 125,508,692 (GRCm39)	K81M	probably damaging	Het
Dzip3	T	A	16: 48,778,820 (GRCm39)	M326L	probably benign	Het
Exosc10	A	G	4: 148,652,849 (GRCm39)	D488G	probably benign	Het
Gm2058	G	A	7: 39,238,457 (GRCm39)		noncoding transcript	Het
Gm43638	T	A	5: 87,633,995 (GRCm39)	Q204L	possibly damaging	Het
Gm4847	T	C	1: 166,469,307 (GRCm39)	D119G	probably damaging	Het
Gnb3	A	C	6: 124,814,425 (GRCm39)	M120R	probably benign	Het
Il16	A	C	7: 83,301,899 (GRCm39)	D74E	probably benign	Het
Kpna1	T	C	16: 35,851,561 (GRCm39)	F382L	probably benign	Het
Krt33a	G	T	11: 99,902,805 (GRCm39)	Q340K	probably benign	Het
Lrrc17	T	A	5: 21,765,877 (GRCm39)	S120T	possibly damaging	Het
Mapk3	C	A	7: 126,362,210 (GRCm39)	Y56*	probably null	Het
Mfhas1	C	T	8: 36,055,969 (GRCm39)	A148V	probably benign	Het
Npr2	A	G	4: 43,647,005 (GRCm39)	I713V	probably damaging	Het
Obp1a	T	A	X: 77,131,980 (GRCm39)	Y108F	probably damaging	Het
Or51f1d	A	T	7: 102,701,359 (GRCm39)	M285L	probably benign	Het
Or5ac21	T	A	16: 59,123,555 (GRCm39)	L13H	probably damaging	Het
Or6n1	T	C	1: 173,916,809 (GRCm39)	F68L	probably benign	Het
Or7e178	T	A	9: 20,225,935 (GRCm39)	S86C	probably benign	Het
Pias1	A	T	9: 62,800,421 (GRCm39)	N430K	probably benign	Het
Ralgapa2	G	T	2: 146,254,052 (GRCm39)	A836D	probably damaging	Het
Rftn2	T	C	1: 55,245,497 (GRCm39)	E238G	probably benign	Het
Samt4	T	G	X: 153,267,118 (GRCm39)	S86A	probably damaging	Het
Setd2	T	C	9: 110,379,842 (GRCm39)	M1219T	probably benign	Het
Sh3pxd2b	T	A	11: 32,337,992 (GRCm39)	D99E	probably damaging	Het
Sh3rf1	A	T	8: 61,825,723 (GRCm39)	T573S	probably benign	Het
Sugct	A	G	13: 17,837,386 (GRCm39)	W82R	probably damaging	Het
Syt4	T	G	18: 31,576,896 (GRCm39)	K153Q	probably benign	Het
Tbrg1	T	C	9: 37,563,908 (GRCm39)		probably null	Het
Tex36	C	T	7: 133,189,137 (GRCm39)	R145K	probably benign	Het
Tfap2b	A	T	1: 19,289,427 (GRCm39)	D166V	probably damaging	Het
Trpc1	G	A	9: 95,618,914 (GRCm39)	L146F	probably damaging	Het
Ttc29	G	A	8: 79,003,569 (GRCm39)	E262K	possibly damaging	Het
Ttn	A	T	2: 76,547,293 (GRCm39)	I32251N	probably damaging	Het
Ttn	G	T	2: 76,612,691 (GRCm39)	D17129E	probably benign	Het
Ucma	T	A	2: 4,981,636 (GRCm39)	I47N	probably damaging	Het
Vmn1r13	A	T	6: 57,187,474 (GRCm39)	K211M	possibly damaging	Het
Vmn2r95	A	C	17: 18,660,218 (GRCm39)	H210P	probably damaging	Het
Xpc	T	C	6: 91,476,767 (GRCm39)	E444G	probably benign	Het
Yy1	T	C	12: 108,760,023 (GRCm39)		probably benign	Het
Zfp217	A	G	2: 169,954,422 (GRCm39)		probably benign	Het
Zfp318	T	A	17: 46,720,043 (GRCm39)	Y1080*	probably null	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
IGL01371:Trhde	APN	10	114,424,405 (GRCm39)	missense	possibly damaging	0.57
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
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

2015-04-16