Incidental Mutation 'R4067:Trhde'
ID |
368204 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trhde
|
Ensembl Gene |
ENSMUSG00000050663 |
Gene Name |
TRH-degrading enzyme |
Synonyms |
9330155P21Rik |
MMRRC Submission |
040853-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.103)
|
Stock # |
R4067 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
114234725-114638207 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 114280585 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 848
(R848*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000057449
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061632]
|
AlphaFold |
Q8K093 |
Predicted Effect |
probably null
Transcript: ENSMUST00000061632
AA Change: R848*
|
SMART Domains |
Protein: ENSMUSP00000057449 Gene: ENSMUSG00000050663 AA Change: R848*
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
Validation Efficiency |
98% (61/62) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700025G04Rik |
T |
A |
1: 151,769,150 (GRCm39) |
T121S |
possibly damaging |
Het |
4930503E14Rik |
T |
C |
14: 44,406,641 (GRCm39) |
E136G |
probably damaging |
Het |
Adgrg4 |
A |
G |
X: 56,005,320 (GRCm39) |
N2527S |
probably damaging |
Het |
Ak1 |
G |
A |
2: 32,519,593 (GRCm39) |
S7N |
probably benign |
Het |
Aktip |
A |
C |
8: 91,852,466 (GRCm39) |
I230R |
possibly damaging |
Het |
Alms1 |
A |
G |
6: 85,598,271 (GRCm39) |
I1032M |
probably damaging |
Het |
Asb4 |
T |
A |
6: 5,423,651 (GRCm39) |
V266E |
probably damaging |
Het |
Bace1 |
G |
A |
9: 45,765,962 (GRCm39) |
V130M |
probably damaging |
Het |
Bglap |
A |
T |
3: 88,291,744 (GRCm39) |
|
probably benign |
Het |
Brpf3 |
T |
C |
17: 29,040,233 (GRCm39) |
S885P |
probably benign |
Het |
Chd9 |
A |
T |
8: 91,750,202 (GRCm39) |
I1742F |
possibly damaging |
Het |
Col9a2 |
T |
A |
4: 120,909,586 (GRCm39) |
I415N |
probably damaging |
Het |
Cybc1 |
A |
T |
11: 121,115,528 (GRCm39) |
|
probably null |
Het |
Dnajc7 |
T |
C |
11: 100,492,607 (GRCm39) |
Y38C |
probably benign |
Het |
Dync2i2 |
A |
G |
2: 29,922,820 (GRCm39) |
L309P |
probably benign |
Het |
Enam |
A |
G |
5: 88,651,236 (GRCm39) |
Y840C |
probably damaging |
Het |
Etnppl |
T |
A |
3: 130,425,442 (GRCm39) |
C416S |
probably damaging |
Het |
Fgf20 |
A |
T |
8: 40,732,896 (GRCm39) |
S181T |
probably benign |
Het |
Fut8 |
T |
A |
12: 77,510,835 (GRCm39) |
Y421N |
probably damaging |
Het |
Gcn1 |
T |
G |
5: 115,737,147 (GRCm39) |
L1295R |
probably damaging |
Het |
Gm11437 |
A |
G |
11: 84,055,337 (GRCm39) |
V93A |
probably benign |
Het |
Gm9989 |
T |
C |
3: 81,829,549 (GRCm39) |
|
noncoding transcript |
Het |
Gsdmc4 |
A |
T |
15: 63,765,736 (GRCm39) |
|
probably null |
Het |
Gvin3 |
T |
A |
7: 106,198,772 (GRCm39) |
|
noncoding transcript |
Het |
Ighv10-1 |
A |
T |
12: 114,442,643 (GRCm39) |
M114K |
probably benign |
Het |
Il22b |
T |
C |
10: 118,126,115 (GRCm39) |
I161V |
probably damaging |
Het |
Itfg2 |
T |
A |
6: 128,387,413 (GRCm39) |
|
probably benign |
Het |
Kirrel1 |
G |
A |
3: 86,995,774 (GRCm39) |
Q387* |
probably null |
Het |
Klk1 |
C |
T |
7: 43,876,968 (GRCm39) |
R24* |
probably null |
Het |
Klra7 |
T |
C |
6: 130,208,612 (GRCm39) |
|
probably null |
Het |
Ltn1 |
T |
C |
16: 87,213,118 (GRCm39) |
Y481C |
possibly damaging |
Het |
Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
Mrps2 |
A |
G |
2: 28,359,782 (GRCm39) |
N213S |
probably benign |
Het |
Muc4 |
A |
T |
16: 32,569,869 (GRCm39) |
I310F |
possibly damaging |
Het |
Ntrk3 |
T |
A |
7: 78,167,185 (GRCm39) |
Y102F |
probably damaging |
Het |
Or8k24 |
A |
T |
2: 86,216,431 (GRCm39) |
C110* |
probably null |
Het |
Otof |
C |
T |
5: 30,556,635 (GRCm39) |
G282D |
probably damaging |
Het |
Pcdhb2 |
A |
T |
18: 37,430,367 (GRCm39) |
|
probably null |
Het |
Pign |
A |
T |
1: 105,515,703 (GRCm39) |
|
probably null |
Het |
Plekha6 |
G |
A |
1: 133,222,416 (GRCm39) |
E1001K |
probably benign |
Het |
Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
Ppm1d |
A |
G |
11: 85,236,678 (GRCm39) |
T486A |
probably benign |
Het |
Pudp |
A |
G |
18: 50,701,329 (GRCm39) |
F135L |
probably benign |
Het |
Rd3l |
T |
G |
12: 111,945,945 (GRCm39) |
N178T |
probably benign |
Het |
Rel |
A |
C |
11: 23,703,215 (GRCm39) |
|
probably null |
Het |
Sf3a1 |
T |
A |
11: 4,117,824 (GRCm39) |
F195L |
probably damaging |
Het |
Slc30a1 |
G |
C |
1: 191,639,401 (GRCm39) |
A95P |
probably damaging |
Het |
Slc47a2 |
T |
C |
11: 61,194,773 (GRCm39) |
T469A |
probably benign |
Het |
Slc4a10 |
A |
T |
2: 61,876,989 (GRCm39) |
M1L |
probably benign |
Het |
Slc8a1 |
T |
A |
17: 81,955,703 (GRCm39) |
D445V |
probably damaging |
Het |
Slc9a7 |
C |
T |
X: 20,071,793 (GRCm39) |
G113R |
probably damaging |
Het |
Spata31e5 |
T |
A |
1: 28,816,712 (GRCm39) |
D440V |
probably damaging |
Het |
Spic |
T |
C |
10: 88,511,545 (GRCm39) |
H237R |
possibly damaging |
Het |
Stk26 |
A |
G |
X: 49,977,910 (GRCm39) |
E317G |
probably benign |
Het |
Tex10 |
A |
T |
4: 48,459,355 (GRCm39) |
Y506* |
probably null |
Het |
Trpc5 |
T |
A |
X: 143,202,594 (GRCm39) |
R545* |
probably null |
Het |
Usp24 |
C |
T |
4: 106,216,286 (GRCm39) |
T379M |
possibly damaging |
Het |
Zfp783 |
A |
T |
6: 47,922,499 (GRCm39) |
|
noncoding transcript |
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 |
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'- TCCCAGGATGAGTGTGTTGCA -3'
(R):5'- GTCTGTCTCGGGCTTTCATA -3'
Sequencing Primer
(F):5'- GTGTGTTGCAACATCCAAGC -3'
(R):5'- GCATGCATCCAAAATGATTTGCTCTG -3'
|
Posted On |
2015-12-30 |