Incidental Mutation 'R6326:Trhde'
ID |
510423 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trhde
|
Ensembl Gene |
ENSMUSG00000050663 |
Gene Name |
TRH-degrading enzyme |
Synonyms |
9330155P21Rik |
MMRRC Submission |
044480-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.103)
|
Stock # |
R6326 (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 T
at 114403129 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 498
(M498K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000057449
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061632]
|
AlphaFold |
Q8K093 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000061632
AA Change: M498K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000057449 Gene: ENSMUSG00000050663 AA Change: M498K
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152702
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts17 |
A |
T |
7: 66,770,636 (GRCm39) |
Y915F |
probably benign |
Het |
Adap2 |
T |
A |
11: 80,045,848 (GRCm39) |
F43I |
probably damaging |
Het |
Adprs |
A |
T |
4: 126,210,406 (GRCm39) |
L358Q |
possibly damaging |
Het |
Akap9 |
A |
C |
5: 4,012,061 (GRCm39) |
Q921H |
probably damaging |
Het |
Amigo2 |
A |
G |
15: 97,143,256 (GRCm39) |
S389P |
probably benign |
Het |
Atg2b |
A |
T |
12: 105,627,351 (GRCm39) |
C545* |
probably null |
Het |
C2cd3 |
A |
G |
7: 100,065,635 (GRCm39) |
E807G |
probably benign |
Het |
Ccdc110 |
A |
G |
8: 46,395,078 (GRCm39) |
E323G |
probably damaging |
Het |
Cdk5rap2 |
T |
A |
4: 70,153,691 (GRCm39) |
S1711C |
probably damaging |
Het |
Cebpzos |
T |
G |
17: 79,226,486 (GRCm39) |
D39E |
probably damaging |
Het |
Cenpe |
A |
G |
3: 134,945,539 (GRCm39) |
N1018D |
probably benign |
Het |
Cfap68 |
T |
G |
9: 50,676,057 (GRCm39) |
N87T |
probably damaging |
Het |
Clspn |
C |
A |
4: 126,459,532 (GRCm39) |
H141Q |
probably damaging |
Het |
Cluh |
C |
T |
11: 74,557,068 (GRCm39) |
A1010V |
probably benign |
Het |
Col27a1 |
G |
T |
4: 63,242,678 (GRCm39) |
|
probably benign |
Het |
Cpt2 |
T |
C |
4: 107,771,513 (GRCm39) |
M61V |
probably benign |
Het |
Ddr2 |
T |
A |
1: 169,814,709 (GRCm39) |
H578L |
probably damaging |
Het |
Dnah14 |
T |
A |
1: 181,611,121 (GRCm39) |
I3749N |
probably damaging |
Het |
Dnajc18 |
T |
C |
18: 35,813,978 (GRCm39) |
T264A |
possibly damaging |
Het |
Ecpas |
T |
A |
4: 58,827,068 (GRCm39) |
T1022S |
probably benign |
Het |
Eml6 |
T |
C |
11: 29,769,066 (GRCm39) |
N693S |
probably damaging |
Het |
Ephx4 |
A |
G |
5: 107,553,977 (GRCm39) |
E9G |
probably damaging |
Het |
Eps15l1 |
G |
A |
8: 73,095,278 (GRCm39) |
Q747* |
probably null |
Het |
Flrt1 |
C |
T |
19: 7,073,974 (GRCm39) |
S191N |
probably damaging |
Het |
Gm5114 |
C |
T |
7: 39,057,579 (GRCm39) |
R680H |
probably benign |
Het |
Gm5431 |
T |
C |
11: 48,780,172 (GRCm39) |
H250R |
probably damaging |
Het |
Gm7233 |
T |
C |
14: 43,040,342 (GRCm39) |
C198R |
possibly damaging |
Het |
Herc2 |
C |
G |
7: 55,872,682 (GRCm39) |
Q4407E |
probably damaging |
Het |
Hmx3 |
C |
G |
7: 131,144,734 (GRCm39) |
|
probably benign |
Het |
Hoxb7 |
C |
A |
11: 96,177,909 (GRCm39) |
A119E |
probably benign |
Het |
Ifi207 |
A |
T |
1: 173,557,532 (GRCm39) |
M402K |
probably benign |
Het |
Ints14 |
T |
C |
9: 64,871,719 (GRCm39) |
V19A |
probably benign |
Het |
Itgae |
T |
A |
11: 73,022,519 (GRCm39) |
N911K |
possibly damaging |
Het |
Kif1a |
T |
C |
1: 93,004,048 (GRCm39) |
S145G |
probably damaging |
Het |
Klhdc4 |
A |
G |
8: 122,531,793 (GRCm39) |
W187R |
probably damaging |
Het |
Krt1 |
A |
T |
15: 101,758,684 (GRCm39) |
I160N |
probably damaging |
Het |
Krt12 |
T |
C |
11: 99,307,745 (GRCm39) |
T448A |
probably benign |
Het |
Lcmt2 |
G |
A |
2: 120,969,938 (GRCm39) |
R382* |
probably null |
Het |
Map3k8 |
C |
T |
18: 4,340,651 (GRCm39) |
S221N |
probably damaging |
Het |
Med17 |
T |
C |
9: 15,190,854 (GRCm39) |
D79G |
probably benign |
Het |
Mlf1 |
A |
T |
3: 67,307,060 (GRCm39) |
I257F |
probably damaging |
Het |
Mov10l1 |
T |
A |
15: 88,879,098 (GRCm39) |
F153I |
probably damaging |
Het |
Msto1 |
A |
C |
3: 88,819,405 (GRCm39) |
V149G |
probably damaging |
Het |
Mybl1 |
T |
C |
1: 9,748,732 (GRCm39) |
|
probably null |
Het |
Myoc |
A |
G |
1: 162,476,580 (GRCm39) |
Y428C |
probably damaging |
Het |
Nin |
A |
G |
12: 70,091,955 (GRCm39) |
S785P |
possibly damaging |
Het |
Oit3 |
A |
T |
10: 59,264,061 (GRCm39) |
F358I |
probably damaging |
Het |
Or5t15 |
C |
T |
2: 86,681,338 (GRCm39) |
V235I |
probably benign |
Het |
Or6c88 |
A |
G |
10: 129,406,571 (GRCm39) |
T16A |
possibly damaging |
Het |
Paip1 |
A |
G |
13: 119,566,753 (GRCm39) |
N29S |
probably benign |
Het |
Pcdhgb4 |
T |
C |
18: 37,855,509 (GRCm39) |
S635P |
probably benign |
Het |
Pcsk1 |
A |
G |
13: 75,280,298 (GRCm39) |
N708D |
possibly damaging |
Het |
Plch1 |
C |
T |
3: 63,688,811 (GRCm39) |
W131* |
probably null |
Het |
Prag1 |
A |
T |
8: 36,569,860 (GRCm39) |
M148L |
possibly damaging |
Het |
Ptch1 |
A |
G |
13: 63,691,359 (GRCm39) |
L176P |
probably damaging |
Het |
Ralgapa1 |
A |
T |
12: 55,793,931 (GRCm39) |
V568D |
probably damaging |
Het |
Rb1 |
A |
T |
14: 73,435,974 (GRCm39) |
M897K |
probably benign |
Het |
Resf1 |
T |
A |
6: 149,230,493 (GRCm39) |
Y1180N |
probably damaging |
Het |
Robo3 |
T |
A |
9: 37,338,323 (GRCm39) |
Q386L |
probably damaging |
Het |
Rtn4rl1 |
T |
C |
11: 75,156,828 (GRCm39) |
V420A |
possibly damaging |
Het |
Sall1 |
A |
T |
8: 89,756,896 (GRCm39) |
N1069K |
probably benign |
Het |
Sipa1l1 |
A |
G |
12: 82,419,242 (GRCm39) |
E640G |
probably damaging |
Het |
Slc22a2 |
C |
A |
17: 12,831,297 (GRCm39) |
Y362* |
probably null |
Het |
Slc5a9 |
T |
C |
4: 111,737,450 (GRCm39) |
E603G |
probably benign |
Het |
Slc6a17 |
A |
T |
3: 107,407,722 (GRCm39) |
I83N |
probably damaging |
Het |
Snx29 |
G |
T |
16: 11,221,430 (GRCm39) |
M285I |
probably benign |
Het |
Spata2 |
T |
C |
2: 167,326,094 (GRCm39) |
T242A |
possibly damaging |
Het |
Stard13 |
A |
G |
5: 150,970,384 (GRCm39) |
L733P |
possibly damaging |
Het |
Svep1 |
A |
G |
4: 58,073,045 (GRCm39) |
V2088A |
possibly damaging |
Het |
Tdp2 |
A |
G |
13: 25,024,540 (GRCm39) |
E279G |
probably damaging |
Het |
Tnfrsf8 |
T |
G |
4: 144,995,794 (GRCm39) |
I422L |
probably damaging |
Het |
Tpk1 |
T |
A |
6: 43,323,736 (GRCm39) |
T189S |
possibly damaging |
Het |
Trim35 |
T |
A |
14: 66,540,653 (GRCm39) |
H168Q |
possibly damaging |
Het |
Tubb5 |
T |
C |
17: 36,147,347 (GRCm39) |
|
probably benign |
Het |
Tut4 |
C |
T |
4: 108,336,177 (GRCm39) |
T6I |
probably benign |
Het |
Vmn1r181 |
G |
A |
7: 23,684,183 (GRCm39) |
R216Q |
probably benign |
Het |
Vmn2r77 |
G |
A |
7: 86,451,031 (GRCm39) |
G306R |
probably benign |
Het |
Xkr4 |
C |
T |
1: 3,741,261 (GRCm39) |
R104H |
possibly damaging |
Het |
Zfp398 |
T |
C |
6: 47,843,355 (GRCm39) |
I337T |
possibly 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 |
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'- AGCAGGCCTATTCATAAGATGC -3'
(R):5'- TGAGGCTCACCGTGTAAGAC -3'
Sequencing Primer
(F):5'- ACAACCCATTTTCATTCACTAGAAAG -3'
(R):5'- CTCACCGTGTAAGACTGATGAGC -3'
|
Posted On |
2018-04-02 |