Incidental Mutation 'R1927:Trhde'
| ID |
214963 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trhde
|
| Ensembl Gene |
ENSMUSG00000050663 |
| Gene Name |
TRH-degrading enzyme |
| Synonyms |
9330155P21Rik |
| MMRRC Submission |
039945-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R1927 (G1)
|
| Quality Score |
191 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
114234725-114638207 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 114636754 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 151
(Y151F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061632]
|
| AlphaFold |
Q8K093 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061632
AA Change: Y151F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057449
Gene: ENSMUSG00000050663
AA Change: Y151F
| 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: ENSMUST00000139331
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152282
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152702
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.5%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
C |
6: 121,613,338 (GRCm39) |
S31P |
probably damaging |
Het |
| Abca12 |
G |
T |
1: 71,283,999 (GRCm39) |
H2524Q |
probably damaging |
Het |
| Acsl5 |
T |
C |
19: 55,266,586 (GRCm39) |
V135A |
probably benign |
Het |
| Actl11 |
T |
G |
9: 107,806,736 (GRCm39) |
L353R |
possibly damaging |
Het |
| Adcy6 |
G |
T |
15: 98,496,379 (GRCm39) |
|
probably null |
Het |
| B230104I21Rik |
A |
G |
4: 154,425,694 (GRCm39) |
I697T |
probably damaging |
Het |
| BC061237 |
G |
A |
14: 44,738,700 (GRCm39) |
R33K |
possibly damaging |
Het |
| Brf1 |
C |
A |
12: 112,963,964 (GRCm39) |
V5F |
possibly damaging |
Het |
| Chmp2a |
C |
T |
7: 12,767,863 (GRCm39) |
A21T |
possibly damaging |
Het |
| Cwh43 |
A |
G |
5: 73,610,417 (GRCm39) |
N607S |
probably benign |
Het |
| Ddhd2 |
G |
A |
8: 26,231,688 (GRCm39) |
L445F |
possibly damaging |
Het |
| Dicer1 |
C |
A |
12: 104,669,143 (GRCm39) |
D1180Y |
possibly damaging |
Het |
| Dnaaf4 |
A |
T |
9: 72,867,909 (GRCm39) |
I57L |
probably damaging |
Het |
| Dock5 |
A |
T |
14: 68,083,511 (GRCm39) |
S133T |
possibly damaging |
Het |
| Efs |
A |
T |
14: 55,154,620 (GRCm39) |
C540S |
possibly damaging |
Het |
| Ehd4 |
C |
T |
2: 119,921,973 (GRCm39) |
G428S |
probably benign |
Het |
| Eml1 |
C |
T |
12: 108,504,476 (GRCm39) |
R812* |
probably null |
Het |
| Enpp1 |
C |
T |
10: 24,530,786 (GRCm39) |
D557N |
possibly damaging |
Het |
| Fn3krp |
A |
G |
11: 121,315,803 (GRCm39) |
T65A |
probably damaging |
Het |
| Galnt5 |
A |
G |
2: 57,888,615 (GRCm39) |
R72G |
probably benign |
Het |
| Gfod1 |
C |
T |
13: 43,354,336 (GRCm39) |
R213H |
possibly damaging |
Het |
| Gm10518 |
A |
G |
1: 179,631,210 (GRCm39) |
|
probably benign |
Het |
| Gm5431 |
A |
G |
11: 48,780,082 (GRCm39) |
F558S |
probably damaging |
Het |
| Got1 |
C |
T |
19: 43,504,119 (GRCm39) |
|
probably null |
Het |
| Gucy2g |
C |
T |
19: 55,226,191 (GRCm39) |
V242I |
probably benign |
Het |
| Hdgfl2 |
T |
A |
17: 56,406,874 (GRCm39) |
V606E |
possibly damaging |
Het |
| Hoxa3 |
T |
C |
6: 52,146,979 (GRCm39) |
|
probably benign |
Het |
| Iqub |
T |
A |
6: 24,491,670 (GRCm39) |
I339L |
probably benign |
Het |
| Kdm4c |
C |
T |
4: 74,263,720 (GRCm39) |
T668I |
probably benign |
Het |
| Klhl32 |
T |
C |
4: 24,617,474 (GRCm39) |
I592V |
probably benign |
Het |
| Mfsd12 |
G |
T |
10: 81,197,921 (GRCm39) |
M296I |
probably benign |
Het |
| Mfsd4b4 |
C |
T |
10: 39,768,437 (GRCm39) |
A219T |
probably damaging |
Het |
| Mrpl52 |
T |
C |
14: 54,664,414 (GRCm39) |
S9P |
possibly damaging |
Het |
| Nbr1 |
A |
G |
11: 101,458,040 (GRCm39) |
Y273C |
possibly damaging |
Het |
| Ncf4 |
G |
T |
15: 78,144,846 (GRCm39) |
G217V |
probably damaging |
Het |
| Neo1 |
T |
C |
9: 58,897,668 (GRCm39) |
E96G |
probably benign |
Het |
| Nid2 |
T |
A |
14: 19,818,344 (GRCm39) |
N279K |
probably damaging |
Het |
| Nr5a2 |
A |
G |
1: 136,872,732 (GRCm39) |
Y56H |
probably damaging |
Het |
| Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
| Nynrin |
A |
G |
14: 56,101,049 (GRCm39) |
T280A |
probably benign |
Het |
| Or1o2 |
A |
G |
17: 37,542,434 (GRCm39) |
Y276H |
probably damaging |
Het |
| Or2b28 |
T |
A |
13: 21,531,116 (GRCm39) |
I6N |
probably benign |
Het |
| Or2w2 |
A |
G |
13: 21,758,426 (GRCm39) |
F67L |
probably benign |
Het |
| Or55b10 |
A |
G |
7: 102,143,266 (GRCm39) |
S239P |
possibly damaging |
Het |
| Or5b109 |
T |
C |
19: 13,212,393 (GRCm39) |
Y260H |
probably damaging |
Het |
| Otog |
G |
A |
7: 45,895,707 (GRCm39) |
C107Y |
probably damaging |
Het |
| Ptprn |
A |
G |
1: 75,230,766 (GRCm39) |
V565A |
probably benign |
Het |
| Rbm6 |
T |
G |
9: 107,730,102 (GRCm39) |
D182A |
probably damaging |
Het |
| Rhbg |
A |
G |
3: 88,151,859 (GRCm39) |
F400L |
probably benign |
Het |
| Rpl22l1 |
T |
A |
3: 28,860,738 (GRCm39) |
N33K |
possibly damaging |
Het |
| Rtp1 |
T |
A |
16: 23,249,959 (GRCm39) |
I108N |
probably damaging |
Het |
| Sema6b |
A |
T |
17: 56,439,797 (GRCm39) |
F15I |
probably benign |
Het |
| Sirpa |
C |
T |
2: 129,458,296 (GRCm39) |
T304I |
possibly damaging |
Het |
| Slc22a29 |
A |
G |
19: 8,184,430 (GRCm39) |
I257T |
probably benign |
Het |
| Slc41a1 |
T |
C |
1: 131,768,938 (GRCm39) |
I256T |
probably damaging |
Het |
| Smg6 |
A |
G |
11: 75,033,674 (GRCm39) |
K1208R |
probably damaging |
Het |
| Sorcs1 |
G |
T |
19: 50,210,633 (GRCm39) |
P744Q |
probably damaging |
Het |
| Sptbn5 |
T |
C |
2: 119,900,943 (GRCm39) |
T213A |
probably benign |
Het |
| St18 |
A |
G |
1: 6,872,936 (GRCm39) |
T224A |
probably benign |
Het |
| Stat3 |
T |
C |
11: 100,785,655 (GRCm39) |
N465S |
probably damaging |
Het |
| Stmn2 |
T |
A |
3: 8,610,636 (GRCm39) |
M40K |
probably benign |
Het |
| Tespa1 |
A |
G |
10: 130,184,108 (GRCm39) |
D63G |
probably benign |
Het |
| Thrb |
T |
A |
14: 18,008,674 (GRCm38) |
C133S |
probably damaging |
Het |
| Tmem25 |
C |
T |
9: 44,707,780 (GRCm39) |
V172M |
possibly damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trp53bp2 |
A |
G |
1: 182,280,229 (GRCm39) |
T912A |
probably damaging |
Het |
| Unc79 |
C |
A |
12: 103,135,951 (GRCm39) |
A2269E |
probably damaging |
Het |
| Zfp507 |
C |
T |
7: 35,493,150 (GRCm39) |
R631Q |
probably damaging |
Het |
| Zfp758 |
T |
G |
17: 22,594,823 (GRCm39) |
S436R |
probably damaging |
Het |
| Zfp791 |
G |
T |
8: 85,837,312 (GRCm39) |
T184K |
probably benign |
Het |
| Znrf3 |
A |
G |
11: 5,231,062 (GRCm39) |
V817A |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGGTTCTGTTCAATACCACCACC -3'
(R):5'- AGCAGCTTTCCAGGTTCTGC -3'
Sequencing Primer
(F):5'- ACCAAGACCTGCGTTTGTG -3'
(R):5'- TTCCAGGTTCTGCCCGGC -3'
|
| Posted On |
2014-07-14 |
Incidental Mutation