Incidental Mutation 'R9477:Trhde'
| ID |
715879 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trhde
|
| Ensembl Gene |
ENSMUSG00000050663 |
| Gene Name |
TRH-degrading enzyme |
| Synonyms |
9330155P21Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
R9477 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
114234725-114638207 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 114338980 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 610
(E610V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061632]
|
| AlphaFold |
Q8K093 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061632
AA Change: E610V
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000057449
Gene: ENSMUSG00000050663
AA Change: E610V
| 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: 99.0%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap1 |
A |
T |
1: 89,765,485 (GRCm39) |
M618L |
probably benign |
Het |
| Anxa2r2 |
A |
T |
13: 120,488,282 (GRCm39) |
I89N |
probably damaging |
Het |
| App |
C |
A |
16: 84,853,392 (GRCm39) |
A229S |
unknown |
Het |
| B020011L13Rik |
G |
T |
1: 117,728,903 (GRCm39) |
E137* |
probably null |
Het |
| BC034090 |
C |
T |
1: 155,102,087 (GRCm39) |
G59E |
probably damaging |
Het |
| C1ra |
A |
G |
6: 124,499,455 (GRCm39) |
D547G |
probably benign |
Het |
| Cdh2 |
A |
T |
18: 16,755,212 (GRCm39) |
D774E |
probably damaging |
Het |
| Cdon |
A |
G |
9: 35,403,201 (GRCm39) |
N1104D |
probably damaging |
Het |
| Cecr2 |
G |
A |
6: 120,720,743 (GRCm39) |
|
probably null |
Het |
| Ces2b |
A |
T |
8: 105,560,556 (GRCm39) |
N124Y |
probably damaging |
Het |
| Cfap61 |
A |
G |
2: 145,985,032 (GRCm39) |
T959A |
probably benign |
Het |
| Chaf1a |
A |
T |
17: 56,369,244 (GRCm39) |
K492* |
probably null |
Het |
| Clec14a |
A |
G |
12: 58,314,620 (GRCm39) |
V334A |
probably benign |
Het |
| Col6a3 |
A |
G |
1: 90,706,621 (GRCm39) |
I2771T |
unknown |
Het |
| Creb3 |
T |
C |
4: 43,566,298 (GRCm39) |
L244P |
probably damaging |
Het |
| Crispld1 |
T |
C |
1: 17,816,956 (GRCm39) |
V171A |
probably benign |
Het |
| Crmp1 |
T |
C |
5: 37,446,182 (GRCm39) |
Y613H |
probably damaging |
Het |
| Csrnp3 |
G |
A |
2: 65,852,819 (GRCm39) |
V416I |
probably benign |
Het |
| Dhrs1 |
A |
G |
14: 55,976,868 (GRCm39) |
V272A |
probably benign |
Het |
| Dip2b |
T |
C |
15: 99,936,784 (GRCm39) |
S32P |
probably damaging |
Het |
| Dpp10 |
G |
T |
1: 123,304,370 (GRCm39) |
T510K |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,205,292 (GRCm39) |
Y820C |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,836,698 (GRCm39) |
H3562L |
unknown |
Het |
| Fam3c |
A |
T |
6: 22,308,479 (GRCm39) |
M238K |
probably damaging |
Het |
| Fcgbpl1 |
T |
C |
7: 27,852,265 (GRCm39) |
F1263L |
probably damaging |
Het |
| Fcrl2 |
A |
T |
3: 87,159,803 (GRCm39) |
C484S |
probably damaging |
Het |
| Fsd1 |
T |
C |
17: 56,295,720 (GRCm39) |
L97P |
possibly damaging |
Het |
| Gapdhs |
T |
C |
7: 30,431,682 (GRCm39) |
I310V |
probably damaging |
Het |
| Gimap4 |
A |
T |
6: 48,667,314 (GRCm39) |
N23I |
probably benign |
Het |
| Gpr21 |
T |
A |
2: 37,408,386 (GRCm39) |
F311I |
probably damaging |
Het |
| Grm1 |
T |
C |
10: 10,595,405 (GRCm39) |
E741G |
probably benign |
Het |
| Gsto2 |
G |
A |
19: 47,864,911 (GRCm39) |
R148H |
probably benign |
Het |
| Gzmd |
A |
G |
14: 56,368,813 (GRCm39) |
V27A |
probably benign |
Het |
| Hbp1 |
A |
G |
12: 31,980,766 (GRCm39) |
C446R |
probably damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,286,031 (GRCm39) |
|
probably null |
Het |
| Ifi205 |
G |
A |
1: 173,854,155 (GRCm39) |
T166I |
probably benign |
Het |
| Il23a |
T |
A |
10: 128,133,922 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Jag1 |
A |
T |
2: 136,936,409 (GRCm39) |
C362S |
probably damaging |
Het |
| Jmjd1c |
A |
T |
10: 66,993,734 (GRCm39) |
R72* |
probably null |
Het |
| Kcna6 |
A |
G |
6: 126,716,361 (GRCm39) |
I176T |
probably damaging |
Het |
| Marchf1 |
T |
C |
8: 66,871,542 (GRCm39) |
V102A |
probably damaging |
Het |
| Mast1 |
T |
C |
8: 85,638,779 (GRCm39) |
K1517E |
probably benign |
Het |
| Mbnl1 |
A |
G |
3: 60,520,769 (GRCm39) |
D119G |
probably damaging |
Het |
| Mfsd8 |
A |
G |
3: 40,785,057 (GRCm39) |
|
probably null |
Het |
| Mtus2 |
T |
G |
5: 148,014,740 (GRCm39) |
V511G |
probably benign |
Het |
| Myot |
A |
C |
18: 44,470,333 (GRCm39) |
Q103H |
probably benign |
Het |
| Nrip2 |
G |
A |
6: 128,377,145 (GRCm39) |
D24N |
probably benign |
Het |
| Ntm |
T |
A |
9: 29,322,922 (GRCm39) |
S33C |
probably benign |
Het |
| Nus1 |
C |
T |
10: 52,294,001 (GRCm39) |
T55M |
possibly damaging |
Het |
| Or4c112 |
G |
A |
2: 88,853,615 (GRCm39) |
T244I |
probably benign |
Het |
| Pik3cb |
C |
T |
9: 98,922,973 (GRCm39) |
|
probably null |
Het |
| Pogk |
T |
C |
1: 166,227,404 (GRCm39) |
N249S |
probably damaging |
Het |
| Pou1f1 |
C |
T |
16: 65,320,503 (GRCm39) |
T66I |
possibly damaging |
Het |
| Ppp1r42 |
T |
G |
1: 10,055,854 (GRCm39) |
K211N |
probably damaging |
Het |
| Ppp2r3d |
C |
A |
9: 124,476,857 (GRCm38) |
D2Y |
|
Het |
| Prdm5 |
A |
T |
6: 65,771,342 (GRCm39) |
N51I |
possibly damaging |
Het |
| Rif1 |
G |
A |
2: 52,001,342 (GRCm39) |
A1599T |
probably benign |
Het |
| Sema3c |
G |
A |
5: 17,921,981 (GRCm39) |
A520T |
|
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Spice1 |
T |
A |
16: 44,197,183 (GRCm39) |
N489K |
possibly damaging |
Het |
| Sptbn4 |
A |
G |
7: 27,132,624 (GRCm39) |
M116T |
possibly damaging |
Het |
| Supt5 |
T |
A |
7: 28,025,500 (GRCm39) |
N249Y |
probably damaging |
Het |
| Tex2 |
A |
G |
11: 106,410,706 (GRCm39) |
|
probably null |
Het |
| Trmt12 |
T |
C |
15: 58,745,471 (GRCm39) |
S290P |
possibly damaging |
Het |
| Trpm2 |
C |
T |
10: 77,747,224 (GRCm39) |
V1425M |
probably benign |
Het |
| Uaca |
T |
C |
9: 60,778,108 (GRCm39) |
S832P |
probably benign |
Het |
| Vcan |
T |
A |
13: 89,841,128 (GRCm39) |
D1472V |
probably damaging |
Het |
| Virma |
A |
G |
4: 11,528,753 (GRCm39) |
E1330G |
probably damaging |
Het |
| Vmn1r125 |
T |
G |
7: 21,006,261 (GRCm39) |
V53G |
possibly damaging |
Het |
| Vmn2r27 |
A |
T |
6: 124,168,910 (GRCm39) |
I740N |
probably damaging |
Het |
| Vmn2r70 |
C |
T |
7: 85,218,244 (GRCm39) |
C18Y |
possibly damaging |
Het |
| Zfp35 |
A |
G |
18: 24,136,188 (GRCm39) |
I177M |
possibly damaging |
Het |
| Zfp532 |
T |
C |
18: 65,777,428 (GRCm39) |
I895T |
probably benign |
Het |
| Zfp58 |
C |
A |
13: 67,640,158 (GRCm39) |
C111F |
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 |
|
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 |
|
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'
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| Posted On |
2022-06-15 |
Incidental Mutation