Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03197:Trhde'

412874

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 #

IGL03197

Quality Score

Status

Chromosome

Chromosomal Location

114234725-114638207 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114249213 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 851 (L851P)

Ref Sequence

ENSEMBL: ENSMUSP00000057449 (fasta)

Gene Model

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

AlphaFold

Q8K093

Predicted Effect

probably benign
Transcript: ENSMUST00000061632
AA Change: L851P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000057449
Gene: ENSMUSG00000050663
AA Change: L851P

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	A	G	8: 117,698,541 (GRCm39)	W189R	probably damaging	Het
Abcb7	A	T	X: 103,327,797 (GRCm39)	M704K	possibly damaging	Het
Anp32e	A	G	3: 95,844,364 (GRCm39)	D71G	probably damaging	Het
Asphd1	T	C	7: 126,545,298 (GRCm39)	D353G	probably damaging	Het
Baz2b	T	C	2: 59,731,898 (GRCm39)	K2047E	possibly damaging	Het
Cyp2c39	G	T	19: 39,555,361 (GRCm39)	V394F	probably damaging	Het
Ddx43	G	A	9: 78,325,402 (GRCm39)	M482I	probably benign	Het
Dnah2	A	T	11: 69,350,089 (GRCm39)	V2348E	probably damaging	Het
Fam135a	A	G	1: 24,083,263 (GRCm39)	F304L	probably damaging	Het
Gabra3	A	G	X: 71,583,734 (GRCm39)	I66T	possibly damaging	Het
Irf4	A	T	13: 30,947,503 (GRCm39)		probably benign	Het
Kif11	A	G	19: 37,395,475 (GRCm39)	D578G	probably benign	Het
Lrig1	A	G	6: 94,583,099 (GRCm39)	S1006P	probably benign	Het
Mfsd14a	A	C	3: 116,430,012 (GRCm39)	S307A	probably benign	Het
Mill1	A	G	7: 17,998,590 (GRCm39)	T267A	probably benign	Het
Nfyc	C	A	4: 120,630,958 (GRCm39)	D62Y	probably damaging	Het
Nin	T	C	12: 70,073,584 (GRCm39)	T1190A	probably benign	Het
Nup42	T	C	5: 24,372,463 (GRCm39)	S84P	probably damaging	Het
Ociad1	T	C	5: 73,451,675 (GRCm39)	S15P	probably benign	Het
Or4c104	A	T	2: 88,586,545 (GRCm39)	I158K	probably damaging	Het
Or6c69c	A	T	10: 129,910,548 (GRCm39)	I90F	probably damaging	Het
Or7g25	A	G	9: 19,160,098 (GRCm39)	I199T	probably benign	Het
Pcdhb11	T	A	18: 37,555,477 (GRCm39)	L269*	probably null	Het
Pigo	A	C	4: 43,022,103 (GRCm39)	M352R	possibly damaging	Het
Plch1	T	C	3: 63,660,591 (GRCm39)	M343V	probably damaging	Het
Podnl1	G	A	8: 84,858,818 (GRCm39)	V548I	probably benign	Het
Prkag1	A	G	15: 98,713,058 (GRCm39)		probably benign	Het
Rasa4	A	G	5: 136,130,866 (GRCm39)	K379R	probably damaging	Het
Rraga	G	A	4: 86,494,513 (GRCm39)	A120T	probably damaging	Het
Serpina3a	C	T	12: 104,082,500 (GRCm39)	A91V	probably damaging	Het
Sik2	T	C	9: 50,807,073 (GRCm39)	E779G	probably damaging	Het
Slc15a3	T	G	19: 10,832,443 (GRCm39)		probably null	Het
Smc1b	C	T	15: 84,955,064 (GRCm39)	D1063N	possibly damaging	Het
Speer1e	T	G	5: 11,233,080 (GRCm39)	N14K	probably damaging	Het
Speer1k	T	A	5: 11,000,501 (GRCm39)		probably benign	Het
Srsf12	G	A	4: 33,231,040 (GRCm39)	G183E	probably damaging	Het
Taf8	A	G	17: 47,809,127 (GRCm39)	S112P	probably benign	Het
Wapl	G	T	14: 34,467,588 (GRCm39)	V1182F	possibly damaging	Het
Zfp326	A	G	5: 106,039,059 (GRCm39)	I231V	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
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
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
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

2016-08-02