Mutagenetix > Incidental Mutation

Incidental Mutation 'R4430:Trhde'

328571

Institutional Source

Beutler Lab

Gene Symbol

Trhde

Ensembl Gene

ENSMUSG00000050663

Gene Name

TRH-degrading enzyme

Synonyms

9330155P21Rik

MMRRC Submission

041700-MU

Accession Numbers

Essential gene?

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

Stock #

R4430 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

114234725-114638207 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 114339028 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 594 (L594Q)

Ref Sequence

ENSEMBL: ENSMUSP00000057449 (fasta)

Gene Model

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

AlphaFold

Q8K093

Predicted Effect

probably damaging
Transcript: ENSMUST00000061632
AA Change: L594Q

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

SMART Domains

Protein: ENSMUSP00000057449
Gene: ENSMUSG00000050663
AA Change: L594Q

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	T	5: 64,056,182 (GRCm39)		probably benign	Het
Aak1	A	G	6: 86,963,348 (GRCm39)	N926S	unknown	Het
Ahi1	T	A	10: 20,847,977 (GRCm39)	C462S	probably damaging	Het
Ahnak	A	G	19: 8,980,404 (GRCm39)	I563V	probably benign	Het
Ankrd55	G	A	13: 112,459,717 (GRCm39)		probably null	Het
Bag3	A	G	7: 128,125,647 (GRCm39)	D22G	probably damaging	Het
Cldn8	A	C	16: 88,359,619 (GRCm39)	M102R	probably damaging	Het
Col15a1	T	C	4: 47,245,705 (GRCm39)	F152S	probably damaging	Het
Cxcr2	T	C	1: 74,198,004 (GRCm39)	I166T	probably benign	Het
Dnah11	T	C	12: 117,946,746 (GRCm39)	I3113V	probably benign	Het
Gli2	T	C	1: 118,764,974 (GRCm39)	H1059R	probably benign	Het
Gm14412	C	A	2: 177,007,625 (GRCm39)	S90I	probably benign	Het
L1td1	A	G	4: 98,625,388 (GRCm39)	R528G	probably benign	Het
Mcm3	A	T	1: 20,882,217 (GRCm39)	L449*	probably null	Het
Mif4gd	T	C	11: 115,499,328 (GRCm39)	T185A	probably benign	Het
Mphosph9	T	C	5: 124,403,509 (GRCm39)	S840G	possibly damaging	Het
Nherf4	C	T	9: 44,161,041 (GRCm39)	S175N	probably benign	Het
Nim1k	C	A	13: 120,174,078 (GRCm39)	R272L	possibly damaging	Het
Or5b104	C	T	19: 13,072,452 (GRCm39)	V187I	probably benign	Het
Or6c213	T	A	10: 129,574,130 (GRCm39)	I219F	probably damaging	Het
Or8k32	A	G	2: 86,368,731 (GRCm39)	I176T	probably damaging	Het
Pax3	A	G	1: 78,171,961 (GRCm39)	V83A	probably damaging	Het
Pde3b	C	T	7: 114,133,905 (GRCm39)	P974S	probably damaging	Het
Pglyrp3	T	A	3: 91,938,798 (GRCm39)	D324E	probably damaging	Het
Pus7	A	G	5: 23,951,487 (GRCm39)	Y521H	probably benign	Het
Ryr2	A	G	13: 11,750,413 (GRCm39)	S1953P	probably damaging	Het
Sost	G	A	11: 101,857,670 (GRCm39)	P44S	probably damaging	Het
Sox5	A	G	6: 143,987,000 (GRCm39)	I188T	possibly damaging	Het
Spata4	T	C	8: 55,054,878 (GRCm39)	I86T	probably benign	Het
Ssc5d	T	C	7: 4,946,663 (GRCm39)	S1006P	probably benign	Het
Stk10	T	C	11: 32,483,552 (GRCm39)	V50A	possibly damaging	Het
Sytl4	A	G,T	X: 132,849,972 (GRCm39)	S338R	probably damaging	Homo
Sytl5	A	T	X: 9,826,262 (GRCm39)	N412Y	probably damaging	Het
Tert	T	A	13: 73,775,594 (GRCm39)	F115Y	probably damaging	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Tmem201	A	C	4: 149,815,596 (GRCm39)	V118G	probably benign	Het
Tmem67	T	A	4: 12,051,473 (GRCm39)	N785I	possibly damaging	Het
Ugt2b37	T	C	5: 87,401,951 (GRCm39)	M227V	probably benign	Het
Vmn2r22	T	C	6: 123,614,817 (GRCm39)	T258A	possibly damaging	Het
Vmn2r73	A	T	7: 85,519,449 (GRCm39)	M503K	probably benign	Het
Zfp54	T	G	17: 21,655,222 (GRCm39)	V572G	probably 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
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
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'- CAAGGATTAAAACAGTGGTCCAC -3'
(R):5'- AACCATATAAGACTCTCGAGGC -3'

Sequencing Primer
(F):5'- ACAGTGGTCCACATATATTTTAGAAC -3'
(R):5'- ACTCTCGAGGCAAAAATTAATTTTAC -3'

Posted On

2015-07-21