Mutagenetix > Incidental Mutation

Incidental Mutation 'R3107:Trhde'

263631

Institutional Source

Beutler Lab

Gene Symbol

Trhde

Ensembl Gene

ENSMUSG00000050663

Gene Name

TRH-degrading enzyme

Synonyms

9330155P21Rik

MMRRC Submission

040581-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R3107 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

114234725-114638207 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 114427971 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 442 (E442K)

Ref Sequence

ENSEMBL: ENSMUSP00000057449 (fasta)

Gene Model

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

AlphaFold

Q8K093

Predicted Effect

probably damaging
Transcript: ENSMUST00000061632
AA Change: E442K

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

SMART Domains

Protein: ENSMUSP00000057449
Gene: ENSMUSG00000050663
AA Change: E442K

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

0.8510

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.3%

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf4	A	T	17: 42,977,758 (GRCm39)	Y528*	probably null	Het
Ankrd26	A	T	6: 118,533,204 (GRCm39)	F198L	probably benign	Het
Arnt2	A	G	7: 83,911,652 (GRCm39)	S607P	possibly damaging	Het
Brd10	A	T	19: 29,700,847 (GRCm39)	L814H	probably damaging	Het
Ccdc17	T	C	4: 116,455,464 (GRCm39)	V269A	probably benign	Het
Cers1	T	A	8: 70,775,286 (GRCm39)	H233Q	probably benign	Het
Cfap54	T	C	10: 92,830,545 (GRCm39)	N1197S	probably benign	Het
Cfb	A	G	17: 35,080,800 (GRCm39)	Y66H	possibly damaging	Het
Clspn	A	G	4: 126,485,452 (GRCm39)	D1247G	probably benign	Het
Cnnm1	T	C	19: 43,430,000 (GRCm39)	C373R	probably damaging	Het
Col19a1	T	C	1: 24,377,017 (GRCm39)	T443A	possibly damaging	Het
Cubn	T	C	2: 13,367,158 (GRCm39)	S1571G	possibly damaging	Het
Ddt	C	T	10: 75,608,597 (GRCm39)	E42K	probably benign	Het
Dmrt2	C	A	19: 25,655,055 (GRCm39)	T218N	probably benign	Het
Dnah7b	G	A	1: 46,392,033 (GRCm39)	G3798E	probably benign	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Fam114a2	C	A	11: 57,390,561 (GRCm39)	K317N	probably benign	Het
Fyn	G	C	10: 39,427,451 (GRCm39)	D445H	probably damaging	Het
Gprasp1	A	T	X: 134,700,508 (GRCm39)	M234L	probably benign	Het
Ibtk	T	C	9: 85,592,467 (GRCm39)	Y997C	probably damaging	Het
Il12rb2	A	G	6: 67,337,782 (GRCm39)	V33A	probably damaging	Het
Ints6	T	C	14: 62,998,041 (GRCm39)	T23A	possibly damaging	Het
Itk	C	A	11: 46,218,291 (GRCm39)	G624V	probably benign	Het
Lama2	C	T	10: 26,877,231 (GRCm39)	E2652K	probably benign	Het
Mab21l3	T	A	3: 101,734,112 (GRCm39)	I109F	probably damaging	Het
Mov10	T	C	3: 104,707,040 (GRCm39)	E653G	probably damaging	Het
Or8b51	C	T	9: 38,569,307 (GRCm39)	C127Y	possibly damaging	Het
Plg	T	C	17: 12,603,316 (GRCm39)	V74A	probably benign	Het
Ptprn2	A	G	12: 116,839,800 (GRCm39)	D441G	probably benign	Het
Rbmxl2	G	A	7: 106,809,624 (GRCm39)	G303E	probably damaging	Het
Satb1	A	T	17: 52,089,810 (GRCm39)	Y346N	possibly damaging	Het
Serpina1a	A	T	12: 103,820,100 (GRCm39)	I382N	probably damaging	Het
Slc6a2	C	A	8: 93,687,906 (GRCm39)	Q11K	probably benign	Het
Slc6a20a	A	C	9: 123,470,773 (GRCm39)		probably null	Het
Sorcs1	T	C	19: 50,199,088 (GRCm39)	E825G	possibly damaging	Het
Sval1	C	G	6: 41,932,876 (GRCm39)	P145A	probably damaging	Het
Vmn2r61	A	T	7: 41,916,491 (GRCm39)	D368V	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCCAGTGACAGTTGCTTACTCG -3'
(R):5'- GTTGTGAAAATTAGGATCCAGTGTC -3'

Sequencing Primer
(F):5'- GACAGTTGCTTACTCGATACCATCAG -3'
(R):5'- GGATCCAGTGTCTTTAAAAACCTTTG -3'

Posted On

2015-02-05