Mutagenetix > Incidental Mutation

Incidental Mutation 'R5456:Trhde'

501068

Institutional Source

Beutler Lab

Gene Symbol

Trhde

Ensembl Gene

ENSMUSG00000050663

Gene Name

TRH-degrading enzyme

Synonyms

9330155P21Rik

MMRRC Submission

043019-MU

Accession Numbers

Essential gene?

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

Stock #

R5456 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

114234725-114638207 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114322665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 712 (V712A)

Ref Sequence

ENSEMBL: ENSMUSP00000057449 (fasta)

Gene Model

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

AlphaFold

Q8K093

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061632
AA Change: V712A

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000057449
Gene: ENSMUSG00000050663
AA Change: V712A

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

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot12	A	G	13: 91,889,759 (GRCm39)	D37G	probably damaging	Het
Adcy5	T	C	16: 35,118,892 (GRCm39)	F1081S	probably damaging	Het
Apmap	T	A	2: 150,431,989 (GRCm39)	I128L	probably benign	Het
Arhgap12	G	A	18: 6,112,170 (GRCm39)	Q65*	probably null	Het
Baat	C	T	4: 49,502,949 (GRCm39)	V58I	possibly damaging	Het
Bco2	T	C	9: 50,456,644 (GRCm39)		probably null	Het
Bend3	T	C	10: 43,386,542 (GRCm39)	Y312H	probably damaging	Het
Btnl2	A	T	17: 34,582,295 (GRCm39)	Y287F	probably benign	Het
Cd22	T	C	7: 30,575,464 (GRCm39)	I193V	probably benign	Het
Commd3	A	G	2: 18,678,968 (GRCm39)	E95G	probably damaging	Het
Dcbld1	A	G	10: 52,190,486 (GRCm39)	D215G	probably damaging	Het
Elfn1	A	G	5: 139,958,571 (GRCm39)	Y525C	probably damaging	Het
Fam83b	T	C	9: 76,399,877 (GRCm39)	T409A	probably benign	Het
Fshr	T	A	17: 89,293,776 (GRCm39)	I301F	probably benign	Het
Hemgn	C	T	4: 46,396,571 (GRCm39)	V222M	probably damaging	Het
Igsf3	C	T	3: 101,334,537 (GRCm39)	H205Y	probably benign	Het
Mfsd1	T	C	3: 67,497,166 (GRCm39)	I147T	probably benign	Het
Mslnl	A	G	17: 25,962,133 (GRCm39)	D177G	probably damaging	Het
Nat2	G	A	8: 67,954,225 (GRCm39)	V112I	probably damaging	Het
Or4c10b	G	A	2: 89,711,602 (GRCm39)	G144E	probably damaging	Het
Or8s5	G	A	15: 98,238,246 (GRCm39)	A208V	probably benign	Het
Pabpc1l	T	C	2: 163,869,580 (GRCm39)	S127P	probably damaging	Het
Poln	A	T	5: 34,164,786 (GRCm39)	L845Q	possibly damaging	Het
Ppm1f	T	A	16: 16,741,610 (GRCm39)	D361E	probably damaging	Het
Rapgef5	T	A	12: 117,692,381 (GRCm39)		probably null	Het
Rarb	G	A	14: 16,436,843 (GRCm38)	T226I	probably damaging	Het
Sel1l3	T	C	5: 53,357,378 (GRCm39)	K205E	probably benign	Het
Sh3glb1	T	A	3: 144,415,114 (GRCm39)	I75L	probably benign	Het
Srgap1	G	A	10: 121,705,716 (GRCm39)	S236L	probably benign	Het
Tmco3	A	G	8: 13,369,815 (GRCm39)	Y609C	probably damaging	Het
Trim13	A	G	14: 61,842,523 (GRCm39)	D180G	possibly damaging	Het
Tst	T	C	15: 78,284,158 (GRCm39)	E223G	probably damaging	Het
Umodl1	A	G	17: 31,201,263 (GRCm39)	I397M	probably benign	Het
Usp31	T	C	7: 121,269,500 (GRCm39)	D481G	probably damaging	Het
Vps13c	T	A	9: 67,834,729 (GRCm39)	M1686K	possibly damaging	Het
Wdr83	T	C	8: 85,806,837 (GRCm39)	H81R	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
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
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'- TTTGGGGCCACTGAATAGC -3'
(R):5'- TGGGAACATCAATCAAACCGG -3'

Sequencing Primer
(F):5'- TCATAAGAAAGAGGATAGCATGT -3'
(R):5'- CCGGCTACTTTAGAGTCAACTATG -3'

Posted On

2017-12-01