Incidental Mutation 'R8953:Trhde'
| ID |
681774 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trhde
|
| Ensembl Gene |
ENSMUSG00000050663 |
| Gene Name |
TRH-degrading enzyme |
| Synonyms |
9330155P21Rik |
| MMRRC Submission |
068789-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R8953 (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 114338966 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 615
(I615F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061632]
|
| AlphaFold |
Q8K093 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061632
AA Change: I615F
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000057449
Gene: ENSMUSG00000050663
AA Change: I615F
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (64/64) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
T |
C |
6: 91,892,002 (GRCm39) |
V88A |
probably benign |
Het |
| Abca17 |
C |
A |
17: 24,518,015 (GRCm39) |
V765L |
probably benign |
Het |
| Atp2b2 |
T |
A |
6: 113,737,630 (GRCm39) |
T915S |
possibly damaging |
Het |
| Cacna1s |
C |
T |
1: 136,025,170 (GRCm39) |
H992Y |
possibly damaging |
Het |
| Castor1 |
A |
T |
11: 4,171,249 (GRCm39) |
I244F |
probably benign |
Het |
| Clpp |
T |
A |
17: 57,298,373 (GRCm39) |
M113K |
probably damaging |
Het |
| Cmklr2 |
A |
G |
1: 63,222,272 (GRCm39) |
L321P |
probably damaging |
Het |
| Csn3 |
A |
G |
5: 88,077,809 (GRCm39) |
Q105R |
possibly damaging |
Het |
| Dcaf1 |
G |
A |
9: 106,735,542 (GRCm39) |
R830Q |
possibly damaging |
Het |
| Dnah17 |
A |
T |
11: 118,016,238 (GRCm39) |
|
probably benign |
Het |
| Etv4 |
A |
G |
11: 101,662,513 (GRCm39) |
|
probably null |
Het |
| Fos |
A |
G |
12: 85,522,826 (GRCm39) |
D246G |
probably benign |
Het |
| Foxo1 |
T |
C |
3: 52,253,675 (GRCm39) |
S613P |
probably damaging |
Het |
| Gabra2 |
A |
T |
5: 71,163,525 (GRCm39) |
C261S |
probably damaging |
Het |
| Garem1 |
A |
T |
18: 21,264,388 (GRCm39) |
|
probably null |
Het |
| Gmip |
T |
G |
8: 70,269,427 (GRCm39) |
L533R |
probably damaging |
Het |
| Havcr1 |
A |
G |
11: 46,647,006 (GRCm39) |
T147A |
possibly damaging |
Het |
| Helz2 |
C |
T |
2: 180,874,884 (GRCm39) |
R1870Q |
probably damaging |
Het |
| Itprid2 |
T |
C |
2: 79,490,839 (GRCm39) |
Y986H |
probably damaging |
Het |
| Kcnk3 |
A |
C |
5: 30,779,382 (GRCm39) |
K144T |
probably damaging |
Het |
| Lama5 |
A |
G |
2: 179,835,313 (GRCm39) |
V1293A |
probably damaging |
Het |
| Man2b1 |
A |
G |
8: 85,818,539 (GRCm39) |
I498V |
probably benign |
Het |
| Map6 |
T |
C |
7: 98,965,078 (GRCm39) |
L289P |
probably damaging |
Het |
| Mapk7 |
G |
T |
11: 61,383,792 (GRCm39) |
D43E |
possibly damaging |
Het |
| Medag |
A |
G |
5: 149,350,765 (GRCm39) |
Y194C |
probably damaging |
Het |
| Mertk |
A |
G |
2: 128,620,716 (GRCm39) |
|
probably benign |
Het |
| Mier3 |
C |
A |
13: 111,842,587 (GRCm39) |
T136K |
probably benign |
Het |
| Ndc1 |
T |
A |
4: 107,238,890 (GRCm39) |
W242R |
probably damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,052,632 (GRCm39) |
V932A |
probably damaging |
Het |
| Or2m12 |
T |
A |
16: 19,105,269 (GRCm39) |
M75L |
probably benign |
Het |
| Or5p55 |
G |
A |
7: 107,567,251 (GRCm39) |
V216I |
probably benign |
Het |
| Or5w15 |
A |
T |
2: 87,568,371 (GRCm39) |
M99K |
probably benign |
Het |
| Or9a4 |
G |
T |
6: 40,548,676 (GRCm39) |
A119S |
possibly damaging |
Het |
| Otub2 |
A |
T |
12: 103,370,585 (GRCm39) |
D289V |
probably damaging |
Het |
| P2rx3 |
A |
G |
2: 84,853,842 (GRCm39) |
V133A |
possibly damaging |
Het |
| Pde4a |
C |
A |
9: 21,122,030 (GRCm39) |
T585K |
probably damaging |
Het |
| Pik3c2a |
A |
T |
7: 115,987,320 (GRCm39) |
Y534N |
probably benign |
Het |
| Pip5kl1 |
A |
G |
2: 32,469,991 (GRCm39) |
D232G |
possibly damaging |
Het |
| Pklr |
C |
T |
3: 89,049,612 (GRCm39) |
S234L |
probably damaging |
Het |
| Pkn1 |
T |
C |
8: 84,410,815 (GRCm39) |
K271E |
probably damaging |
Het |
| Plch1 |
T |
G |
3: 63,639,126 (GRCm39) |
H449P |
possibly damaging |
Het |
| Pparg |
T |
C |
6: 115,418,507 (GRCm39) |
L92P |
possibly damaging |
Het |
| Pramel51 |
A |
G |
12: 88,144,070 (GRCm39) |
C248R |
probably benign |
Het |
| Ptgdr2 |
C |
T |
19: 10,917,786 (GRCm39) |
T101I |
probably benign |
Het |
| Rad54l2 |
A |
T |
9: 106,570,461 (GRCm39) |
H1286Q |
probably benign |
Het |
| Ralgapa1 |
A |
G |
12: 55,867,546 (GRCm39) |
S3P |
probably damaging |
Het |
| Rictor |
G |
A |
15: 6,823,928 (GRCm39) |
V1598I |
probably benign |
Het |
| Rph3al |
G |
T |
11: 75,797,401 (GRCm39) |
C98* |
probably null |
Het |
| Rpn2 |
A |
G |
2: 157,163,746 (GRCm39) |
T613A |
probably damaging |
Het |
| Rps20 |
T |
A |
4: 3,834,617 (GRCm39) |
M82L |
probably benign |
Het |
| Rusf1 |
T |
G |
7: 127,872,678 (GRCm39) |
Q423H |
probably benign |
Het |
| Sh3bp4 |
A |
G |
1: 89,072,159 (GRCm39) |
I336V |
probably damaging |
Het |
| Slc6a20b |
T |
C |
9: 123,438,254 (GRCm39) |
N174S |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,058,241 (GRCm39) |
N1903S |
probably benign |
Het |
| Tacc2 |
T |
C |
7: 130,227,487 (GRCm39) |
S1391P |
probably benign |
Het |
| Terb1 |
T |
A |
8: 105,195,431 (GRCm39) |
D570V |
probably damaging |
Het |
| Ttc13 |
T |
C |
8: 125,402,088 (GRCm39) |
N556S |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,568,228 (GRCm39) |
D19228V |
probably damaging |
Het |
| Unc13c |
T |
A |
9: 73,840,044 (GRCm39) |
Y269F |
probably benign |
Het |
| Usp33 |
T |
A |
3: 152,080,420 (GRCm39) |
V517E |
possibly damaging |
Het |
| Wee1 |
A |
G |
7: 109,723,691 (GRCm39) |
D202G |
probably benign |
Het |
| Zfp318 |
T |
A |
17: 46,731,356 (GRCm39) |
S1120T |
probably benign |
Het |
| Zfr2 |
C |
A |
10: 81,084,271 (GRCm39) |
N650K |
probably damaging |
Het |
| Znfx1 |
G |
A |
2: 166,897,421 (GRCm39) |
T501I |
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 |
|
|
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'- TACAAGGATTAAAACAGTGGTCCAC -3'
(R):5'- AACCATATAAGACTCTCGAGGC -3'
Sequencing Primer
(F):5'- ACAGTGGTCCACATATATTTTAGAAC -3'
(R):5'- AATGTTAACCATGCTTTCAAGAAGTG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation