Mutagenetix > Incidental Mutation

Incidental Mutation 'R8335:Trhde'

644585

Institutional Source

Beutler Lab

Gene Symbol

Trhde

Ensembl Gene

ENSMUSG00000050663

Gene Name

TRH-degrading enzyme

Synonyms

9330155P21Rik

MMRRC Submission

067863-MU

Accession Numbers

Essential gene?

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

Stock #

R8335 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114234725-114638207 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 114322609 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000057449 (fasta)

Gene Model

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

AlphaFold

Q8K093

Predicted Effect

probably null
Transcript: ENSMUST00000061632

SMART Domains

Protein: ENSMUSP00000057449
Gene: ENSMUSG00000050663

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

0.9491

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

97% (33/34)

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
Ccdc47	C	G	11: 106,099,084 (GRCm39)	E202D	possibly damaging	Het
Ccdc47	T	C	11: 106,099,085 (GRCm39)	E202G	probably damaging	Het
Depdc1a	C	A	3: 159,228,859 (GRCm39)	P537Q	probably damaging	Het
Dync2h1	A	T	9: 7,084,941 (GRCm39)	M2816K	probably benign	Het
Gatb	T	C	3: 85,481,628 (GRCm39)		probably null	Het
Gm6356	A	G	14: 6,971,838 (GRCm38)	M99T	probably benign	Het
Ighv1-67	A	C	12: 115,567,744 (GRCm39)	V56G	probably damaging	Het
Il27ra	A	T	8: 84,766,130 (GRCm39)	L218Q	probably damaging	Het
Madd	G	A	2: 91,000,584 (GRCm39)	R494C	probably damaging	Het
Mfsd8	G	A	3: 40,789,628 (GRCm39)	R140C	probably damaging	Het
Mink1	C	T	11: 70,500,401 (GRCm39)	R784W	probably damaging	Het
Mttp	C	T	3: 137,808,973 (GRCm39)	D697N	possibly damaging	Het
Mug2	A	T	6: 122,017,543 (GRCm39)	M427L	probably benign	Het
Or10ag57	A	G	2: 87,218,204 (GRCm39)	I52V	probably benign	Het
Or13l2	T	C	3: 97,318,024 (GRCm39)	N158D	probably benign	Het
Or4a67	G	T	2: 88,598,117 (GRCm39)	P181T	probably damaging	Het
Or8k3b	T	A	2: 86,520,512 (GRCm39)	D269V	probably benign	Het
Paxip1	T	C	5: 27,971,122 (GRCm39)	H409R	unknown	Het
Pkp3	T	C	7: 140,667,669 (GRCm39)	I490T	probably damaging	Het
Plekhg4	G	T	8: 106,102,848 (GRCm39)	V236L	probably damaging	Het
Pm20d2	T	C	4: 33,189,245 (GRCm39)	S46G	probably benign	Het
Prss33	A	G	17: 24,053,569 (GRCm39)		probably null	Het
Ptpn3	A	T	4: 57,235,286 (GRCm39)	L358I	probably damaging	Het
Pxdn	A	G	12: 30,052,096 (GRCm39)	T758A	probably damaging	Het
Sall3	G	A	18: 81,012,801 (GRCm39)	R1212C	probably benign	Het
Sox6	G	A	7: 115,300,949 (GRCm39)	L173F	probably damaging	Het
Spata20	T	C	11: 94,373,369 (GRCm39)	K501E	probably benign	Het
Stat2	G	A	10: 128,112,452 (GRCm39)	V31I	possibly damaging	Het
Synpo2	T	A	3: 122,908,183 (GRCm39)	N378Y	probably damaging	Het
Tacr2	A	T	10: 62,100,946 (GRCm39)	H352L	probably benign	Het
Tmem214	A	G	5: 31,029,466 (GRCm39)	K230E	possibly damaging	Het
Tnfsf8	A	G	4: 63,752,352 (GRCm39)	S238P	probably damaging	Het
Tnn	C	T	1: 159,946,053 (GRCm39)	G922R	probably damaging	Het
Ttc6	A	G	12: 57,707,077 (GRCm39)	I661M	probably benign	Het
Vmn1r209	T	A	13: 22,989,977 (GRCm39)	M238L	probably damaging	Het
Vmn2r29	A	G	7: 7,234,445 (GRCm39)	S814P	probably damaging	Het
Vsig10	T	C	5: 117,486,435 (GRCm39)	L448P	probably damaging	Het
Xpo1	T	G	11: 23,230,603 (GRCm39)		probably null	Het
Zfp616	A	T	11: 73,974,726 (GRCm39)	K423*	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
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
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
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'- TGTCTTGGAAATATCCTGTGGC -3'
(R):5'- TGACCTAAGGAACTGGAGATTAC -3'

Sequencing Primer
(F):5'- ATCCTGTGGCTATTATTGACTTAGAG -3'
(R):5'- CCTAAGGAACTGGAGATTACTAATCG -3'

Posted On

2020-09-02