Incidental Mutation 'R7028:Trhde'
| ID |
546137 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trhde
|
| Ensembl Gene |
ENSMUSG00000050663 |
| Gene Name |
TRH-degrading enzyme |
| Synonyms |
9330155P21Rik |
| MMRRC Submission |
045129-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R7028 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
114234725-114638207 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 114354082 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 537
(M537T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061632]
|
| AlphaFold |
Q8K093 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061632
AA Change: M537T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057449
Gene: ENSMUSG00000050663
AA Change: M537T
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
A |
G |
2: 69,096,019 (GRCm39) |
I804T |
probably benign |
Het |
| Abcb1b |
A |
T |
5: 8,855,441 (GRCm39) |
E25V |
probably damaging |
Het |
| Adamts9 |
G |
T |
6: 92,886,774 (GRCm39) |
Y355* |
probably null |
Het |
| Akp3 |
A |
G |
1: 87,054,500 (GRCm39) |
M303V |
probably benign |
Het |
| Ankrd35 |
A |
T |
3: 96,590,650 (GRCm39) |
E312V |
possibly damaging |
Het |
| Arhgap40 |
T |
C |
2: 158,373,294 (GRCm39) |
|
probably null |
Het |
| Asxl1 |
T |
C |
2: 153,242,027 (GRCm39) |
L859P |
probably benign |
Het |
| Atat1 |
A |
G |
17: 36,220,897 (GRCm39) |
F11L |
probably benign |
Het |
| Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
| Ccdc7a |
A |
T |
8: 129,608,075 (GRCm39) |
H943Q |
unknown |
Het |
| Cep135 |
A |
G |
5: 76,764,695 (GRCm39) |
T558A |
probably benign |
Het |
| Cfap99 |
A |
G |
5: 34,458,863 (GRCm39) |
E86G |
possibly damaging |
Het |
| Cfhr2 |
C |
T |
1: 139,758,801 (GRCm39) |
|
probably null |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Col17a1 |
G |
A |
19: 47,640,622 (GRCm39) |
P992L |
probably damaging |
Het |
| Col7a1 |
C |
T |
9: 108,792,331 (GRCm39) |
Q1294* |
probably null |
Het |
| Coq8b |
T |
A |
7: 26,939,293 (GRCm39) |
C148S |
probably damaging |
Het |
| Csmd2 |
A |
G |
4: 128,171,021 (GRCm39) |
N338S |
|
Het |
| Cspg5 |
T |
A |
9: 110,075,959 (GRCm39) |
S232T |
possibly damaging |
Het |
| Cyp2c67 |
A |
G |
19: 39,628,341 (GRCm39) |
V201A |
possibly damaging |
Het |
| Dlgap3 |
G |
A |
4: 127,089,310 (GRCm39) |
R302H |
possibly damaging |
Het |
| Dpy19l2 |
T |
C |
9: 24,539,547 (GRCm39) |
I469V |
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,343,412 (GRCm39) |
D401G |
probably damaging |
Het |
| Gabbr1 |
G |
T |
17: 37,375,629 (GRCm39) |
G453* |
probably null |
Het |
| Gclc |
C |
A |
9: 77,695,498 (GRCm39) |
A440D |
probably damaging |
Het |
| Glyat |
T |
C |
19: 12,627,723 (GRCm39) |
I106T |
probably benign |
Het |
| Gm12185 |
T |
C |
11: 48,799,071 (GRCm39) |
N474S |
possibly damaging |
Het |
| Gm17079 |
T |
C |
14: 51,930,494 (GRCm39) |
H117R |
|
Het |
| Ift70a2 |
A |
T |
2: 75,806,613 (GRCm39) |
L633* |
probably null |
Het |
| Ildr2 |
A |
G |
1: 166,131,098 (GRCm39) |
D318G |
probably damaging |
Het |
| Kcnd2 |
G |
A |
6: 21,216,177 (GRCm39) |
|
probably benign |
Het |
| Kif19a |
C |
T |
11: 114,672,034 (GRCm39) |
T207M |
probably damaging |
Het |
| Kif3a |
G |
T |
11: 53,477,733 (GRCm39) |
G401* |
probably null |
Het |
| Lactbl1 |
T |
A |
4: 136,360,286 (GRCm39) |
L155Q |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 41,136,023 (GRCm39) |
D1649V |
probably benign |
Het |
| Lrrc37 |
C |
T |
11: 103,505,363 (GRCm39) |
A26T |
probably benign |
Het |
| Map2k1 |
A |
G |
9: 64,101,105 (GRCm39) |
V191A |
probably benign |
Het |
| Mdm4 |
A |
T |
1: 132,931,547 (GRCm39) |
C165S |
probably benign |
Het |
| Med27 |
G |
A |
2: 29,399,446 (GRCm39) |
W92* |
probably null |
Het |
| Muc20 |
A |
T |
16: 32,614,616 (GRCm39) |
S254T |
probably benign |
Het |
| Myh1 |
A |
G |
11: 67,111,247 (GRCm39) |
E1562G |
possibly damaging |
Het |
| Nlrp2 |
C |
G |
7: 5,331,571 (GRCm39) |
R275P |
possibly damaging |
Het |
| Notch2 |
T |
A |
3: 98,009,703 (GRCm39) |
N543K |
probably damaging |
Het |
| Nup214 |
T |
A |
2: 31,924,168 (GRCm39) |
S1566T |
probably benign |
Het |
| Nxnl1 |
T |
G |
8: 72,015,437 (GRCm39) |
E157A |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,969,959 (GRCm39) |
L61P |
probably damaging |
Het |
| Ogg1 |
A |
T |
6: 113,306,237 (GRCm39) |
I145F |
probably damaging |
Het |
| Or10d5j |
T |
C |
9: 39,867,641 (GRCm39) |
T197A |
probably benign |
Het |
| Or2b2 |
A |
G |
13: 21,887,440 (GRCm39) |
K90E |
possibly damaging |
Het |
| Or2f1 |
G |
A |
6: 42,721,337 (GRCm39) |
R122H |
probably benign |
Het |
| Or51h5 |
T |
C |
7: 102,577,149 (GRCm39) |
F105L |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,763,461 (GRCm39) |
D3978G |
unknown |
Het |
| Pla2g4e |
T |
G |
2: 120,000,676 (GRCm39) |
D687A |
probably damaging |
Het |
| Pla2r1 |
T |
C |
2: 60,288,737 (GRCm39) |
K632E |
probably damaging |
Het |
| Plg |
A |
T |
17: 12,610,723 (GRCm39) |
Q212L |
probably damaging |
Het |
| Poldip3 |
A |
T |
15: 83,015,698 (GRCm39) |
N306K |
probably damaging |
Het |
| Pspn |
A |
G |
17: 57,306,978 (GRCm39) |
L13P |
possibly damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,804,844 (GRCm39) |
E484G |
probably damaging |
Het |
| Rbmxl1 |
G |
T |
8: 79,233,286 (GRCm39) |
T19K |
probably damaging |
Het |
| Rora |
G |
A |
9: 69,103,365 (GRCm39) |
V31I |
possibly damaging |
Het |
| Skint5 |
C |
A |
4: 113,798,036 (GRCm39) |
W182C |
probably damaging |
Het |
| Spata31d1c |
A |
T |
13: 65,183,877 (GRCm39) |
Q473L |
probably damaging |
Het |
| Tesk2 |
G |
A |
4: 116,659,884 (GRCm39) |
W334* |
probably null |
Het |
| Tmem67 |
C |
A |
4: 12,075,484 (GRCm39) |
V277L |
probably benign |
Het |
| Tubb6 |
G |
A |
18: 67,534,981 (GRCm39) |
M293I |
probably benign |
Het |
| Ube2ql1 |
A |
T |
13: 69,886,873 (GRCm39) |
L196Q |
probably damaging |
Het |
| Ubn1 |
A |
T |
16: 4,873,188 (GRCm39) |
N70I |
probably damaging |
Het |
| Ubtf |
A |
T |
11: 102,205,806 (GRCm39) |
S40T |
probably benign |
Het |
| Virma |
C |
T |
4: 11,519,249 (GRCm39) |
A782V |
possibly damaging |
Het |
| Xdh |
G |
T |
17: 74,250,868 (GRCm39) |
T28K |
probably damaging |
Het |
| Xpo4 |
A |
G |
14: 57,834,508 (GRCm39) |
S691P |
probably benign |
Het |
| Zfat |
A |
C |
15: 68,052,301 (GRCm39) |
F491V |
probably damaging |
Het |
| Zfp623 |
T |
G |
15: 75,820,154 (GRCm39) |
V370G |
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 |
|
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 |
|
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'- TGCTGAAGTACGTAGCCTGC -3'
(R):5'- TCATCTCAAGGTAGAGGTAGATGG -3'
Sequencing Primer
(F):5'- GAAGTACGTAGCCTGCCTTAC -3'
(R):5'- TGACATTTGCAACCCCTAAGTG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation