Incidental Mutation 'R8301:Trhde'
| ID |
639273 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trhde
|
| Ensembl Gene |
ENSMUSG00000050663 |
| Gene Name |
TRH-degrading enzyme |
| Synonyms |
9330155P21Rik |
| MMRRC Submission |
067789-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R8301 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
114234725-114638207 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 114322911 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 667
(E667V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061632]
|
| AlphaFold |
Q8K093 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061632
AA Change: E667V
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000057449
Gene: ENSMUSG00000050663
AA Change: E667V
| 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: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (71/71) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
T |
5: 88,120,364 (GRCm39) |
I374F |
probably benign |
Het |
| Ak9 |
G |
A |
10: 41,300,712 (GRCm39) |
V1108I |
|
Het |
| Aldh16a1 |
C |
T |
7: 44,791,406 (GRCm39) |
A790T |
possibly damaging |
Het |
| Anks1 |
A |
T |
17: 28,278,554 (GRCm39) |
|
probably benign |
Het |
| Antxr2 |
T |
G |
5: 98,125,538 (GRCm39) |
T240P |
probably benign |
Het |
| Arfgef1 |
A |
T |
1: 10,250,058 (GRCm39) |
M945K |
probably damaging |
Het |
| Arhgef17 |
T |
C |
7: 100,528,866 (GRCm39) |
T1591A |
probably benign |
Het |
| Aurka |
A |
G |
2: 172,198,850 (GRCm39) |
S374P |
probably damaging |
Het |
| Bccip |
T |
C |
7: 133,320,933 (GRCm39) |
S236P |
probably benign |
Het |
| Cacna1s |
T |
A |
1: 136,001,179 (GRCm39) |
|
probably benign |
Het |
| Calm1 |
A |
G |
12: 100,171,944 (GRCm39) |
E132G |
probably benign |
Het |
| Casz1 |
A |
G |
4: 149,030,500 (GRCm39) |
D1173G |
probably damaging |
Het |
| Cdh17 |
A |
G |
4: 11,795,659 (GRCm39) |
D413G |
probably damaging |
Het |
| Cfap57 |
A |
G |
4: 118,450,271 (GRCm39) |
I617T |
possibly damaging |
Het |
| Creb5 |
A |
G |
6: 53,658,018 (GRCm39) |
D116G |
possibly damaging |
Het |
| Csnka2ip |
A |
C |
16: 64,299,354 (GRCm39) |
S337A |
unknown |
Het |
| Ddx60 |
A |
G |
8: 62,453,631 (GRCm39) |
E1250G |
probably benign |
Het |
| Dlgap2 |
T |
A |
8: 14,873,577 (GRCm39) |
S727T |
probably benign |
Het |
| Dpy19l1 |
T |
C |
9: 24,396,407 (GRCm39) |
|
probably benign |
Het |
| Ebf2 |
A |
G |
14: 67,476,431 (GRCm39) |
T134A |
possibly damaging |
Het |
| Echdc2 |
A |
T |
4: 108,030,106 (GRCm39) |
M136L |
probably benign |
Het |
| Enpp2 |
A |
G |
15: 54,714,803 (GRCm39) |
F598S |
probably benign |
Het |
| Extl3 |
A |
C |
14: 65,313,733 (GRCm39) |
L483R |
probably damaging |
Het |
| Gcat |
T |
C |
15: 78,920,089 (GRCm39) |
V227A |
possibly damaging |
Het |
| Hsf2 |
A |
G |
10: 57,381,442 (GRCm39) |
D344G |
probably damaging |
Het |
| Ighm |
C |
T |
12: 113,385,165 (GRCm39) |
G265D |
|
Het |
| Igsf9b |
T |
G |
9: 27,246,035 (GRCm39) |
|
probably benign |
Het |
| Ints6 |
A |
G |
14: 62,939,902 (GRCm39) |
V596A |
probably benign |
Het |
| Ints8 |
T |
C |
4: 11,246,120 (GRCm39) |
E182G |
probably damaging |
Het |
| Iqgap2 |
A |
G |
13: 95,818,659 (GRCm39) |
|
probably null |
Het |
| Kalrn |
G |
T |
16: 34,177,470 (GRCm39) |
Q250K |
probably benign |
Het |
| Lrrc1 |
T |
A |
9: 77,451,770 (GRCm39) |
N46Y |
probably damaging |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Naa50 |
A |
G |
16: 43,977,494 (GRCm39) |
N74S |
probably benign |
Het |
| Neb |
T |
C |
2: 52,178,847 (GRCm39) |
N1303S |
probably benign |
Het |
| Nfs1 |
A |
T |
2: 155,976,413 (GRCm39) |
C160* |
probably null |
Het |
| Or11g7 |
T |
A |
14: 50,691,021 (GRCm39) |
S171T |
probably benign |
Het |
| Or52s1b |
T |
G |
7: 102,822,280 (GRCm39) |
K188T |
probably damaging |
Het |
| Or5p52 |
A |
G |
7: 107,502,833 (GRCm39) |
K303R |
probably benign |
Het |
| Or6c76 |
T |
C |
10: 129,612,709 (GRCm39) |
S309P |
probably benign |
Het |
| Orm2 |
T |
C |
4: 63,281,263 (GRCm39) |
F67S |
possibly damaging |
Het |
| Pex5 |
A |
G |
6: 124,382,142 (GRCm39) |
S180P |
probably benign |
Het |
| Phf14 |
G |
C |
6: 11,992,061 (GRCm39) |
G746R |
probably damaging |
Het |
| Pkm |
T |
A |
9: 59,575,914 (GRCm39) |
V110E |
probably damaging |
Het |
| Plekha6 |
T |
G |
1: 133,192,425 (GRCm39) |
N78K |
probably damaging |
Het |
| Plxna2 |
G |
A |
1: 194,472,483 (GRCm39) |
V1076I |
probably benign |
Het |
| Polq |
C |
A |
16: 36,882,181 (GRCm39) |
D1448E |
probably damaging |
Het |
| Pot1b |
T |
C |
17: 55,994,895 (GRCm39) |
T256A |
probably benign |
Het |
| Prkch |
C |
T |
12: 73,749,538 (GRCm39) |
T377I |
possibly damaging |
Het |
| Prl3c1 |
A |
C |
13: 27,383,168 (GRCm39) |
|
probably benign |
Het |
| Prl7b1 |
A |
C |
13: 27,786,755 (GRCm39) |
V158G |
possibly damaging |
Het |
| Prss22 |
T |
C |
17: 24,212,955 (GRCm39) |
S261G |
probably damaging |
Het |
| Psd |
T |
C |
19: 46,309,541 (GRCm39) |
|
probably benign |
Het |
| Psg18 |
A |
T |
7: 18,087,302 (GRCm39) |
Y119N |
probably damaging |
Het |
| Rbm6 |
T |
G |
9: 107,729,993 (GRCm39) |
R218S |
probably damaging |
Het |
| Rnf213 |
T |
A |
11: 119,325,568 (GRCm39) |
S1491T |
|
Het |
| Rsf1 |
T |
C |
7: 97,311,132 (GRCm39) |
S621P |
|
Het |
| Runx1 |
C |
A |
16: 92,402,544 (GRCm39) |
*466L |
probably null |
Het |
| Samd4 |
A |
G |
14: 47,254,135 (GRCm39) |
I200V |
probably benign |
Het |
| Sdsl |
C |
T |
5: 120,597,584 (GRCm39) |
C241Y |
probably benign |
Het |
| Selenon |
T |
C |
4: 134,278,725 (GRCm39) |
|
probably benign |
Het |
| Setx |
C |
T |
2: 29,035,702 (GRCm39) |
P729L |
possibly damaging |
Het |
| Sf1 |
C |
T |
19: 6,418,396 (GRCm39) |
Q55* |
probably null |
Het |
| Slc12a5 |
A |
T |
2: 164,835,611 (GRCm39) |
N833I |
probably damaging |
Het |
| Slc1a4 |
T |
C |
11: 20,282,286 (GRCm39) |
R63G |
probably damaging |
Het |
| Tmeff2 |
G |
T |
1: 51,220,996 (GRCm39) |
A324S |
probably benign |
Het |
| Tmem217 |
A |
G |
17: 29,745,466 (GRCm39) |
I88T |
possibly damaging |
Het |
| Tnfsf8 |
A |
T |
4: 63,779,115 (GRCm39) |
I61N |
probably benign |
Het |
| Tpbgl |
G |
T |
7: 99,274,774 (GRCm39) |
A361E |
probably damaging |
Het |
| Unc13b |
A |
G |
4: 43,263,568 (GRCm39) |
T1598A |
probably benign |
Het |
| Vmn2r73 |
A |
T |
7: 85,507,510 (GRCm39) |
C601S |
probably benign |
Het |
| Zfp873 |
C |
A |
10: 81,896,713 (GRCm39) |
H481Q |
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 |
|
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 |
|
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'- TGCCAAACAGACAACGGATG -3'
(R):5'- TTAACAGCCATGCGAACATAGTG -3'
Sequencing Primer
(F):5'- CGGATGAGTAGATCAAGGATGTACC -3'
(R):5'- CCATGCGAACATAGTGGGGTAATTC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation