Incidental Mutation 'IGL02496:Trhde'
ID |
295811 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Trhde
|
Ensembl Gene |
ENSMUSG00000050663 |
Gene Name |
TRH-degrading enzyme |
Synonyms |
9330155P21Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.103)
|
Stock # |
IGL02496
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
114234725-114638207 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 114636466 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 247
(L247*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000057449
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061632]
|
AlphaFold |
Q8K093 |
Predicted Effect |
probably null
Transcript: ENSMUST00000061632
AA Change: L247*
|
SMART Domains |
Protein: ENSMUSP00000057449 Gene: ENSMUSG00000050663 AA Change: L247*
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: ENSMUST00000139331
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152282
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152702
|
Coding Region Coverage |
|
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
G |
1: 71,327,712 (GRCm39) |
H1456P |
possibly damaging |
Het |
Abcg1 |
C |
A |
17: 31,324,578 (GRCm39) |
H274Q |
probably damaging |
Het |
Adamts4 |
G |
A |
1: 171,078,512 (GRCm39) |
R44Q |
probably benign |
Het |
Amigo2 |
A |
T |
15: 97,143,494 (GRCm39) |
C309* |
probably null |
Het |
Ccdc88c |
A |
C |
12: 100,919,552 (GRCm39) |
S446A |
probably benign |
Het |
Cd9 |
A |
T |
6: 125,449,458 (GRCm39) |
V28E |
probably damaging |
Het |
Cops2 |
A |
T |
2: 125,678,163 (GRCm39) |
|
probably benign |
Het |
Csn1s1 |
C |
T |
5: 87,825,453 (GRCm39) |
|
probably benign |
Het |
Cul9 |
G |
T |
17: 46,851,302 (GRCm39) |
R373S |
possibly damaging |
Het |
D630045J12Rik |
G |
T |
6: 38,126,640 (GRCm39) |
H1457N |
probably damaging |
Het |
Dennd2b |
C |
A |
7: 109,155,442 (GRCm39) |
R436L |
possibly damaging |
Het |
Dnah9 |
A |
G |
11: 65,920,189 (GRCm39) |
S2235P |
probably damaging |
Het |
Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
Fbxo10 |
A |
T |
4: 45,043,883 (GRCm39) |
W647R |
probably damaging |
Het |
Flnb |
T |
A |
14: 7,930,919 (GRCm38) |
|
probably benign |
Het |
Flnc |
G |
T |
6: 29,440,684 (GRCm39) |
V301L |
probably damaging |
Het |
Hfm1 |
T |
C |
5: 107,049,627 (GRCm39) |
S445G |
probably benign |
Het |
Hif3a |
A |
G |
7: 16,773,603 (GRCm39) |
|
probably benign |
Het |
Hsd17b4 |
T |
C |
18: 50,288,220 (GRCm39) |
Y217H |
probably damaging |
Het |
Iba57 |
T |
C |
11: 59,049,772 (GRCm39) |
T192A |
probably benign |
Het |
Igkv5-48 |
A |
T |
6: 69,703,671 (GRCm39) |
I78N |
probably damaging |
Het |
Inhbe |
A |
T |
10: 127,186,797 (GRCm39) |
W128R |
probably damaging |
Het |
Ism1 |
T |
C |
2: 139,599,121 (GRCm39) |
C365R |
probably damaging |
Het |
Kif19a |
A |
T |
11: 114,670,470 (GRCm39) |
T127S |
probably damaging |
Het |
Kmt2d |
C |
A |
15: 98,755,439 (GRCm39) |
|
probably benign |
Het |
Mmp20 |
A |
G |
9: 7,654,042 (GRCm39) |
R321G |
probably damaging |
Het |
Msl2 |
T |
C |
9: 100,977,854 (GRCm39) |
M76T |
possibly damaging |
Het |
Nme9 |
T |
C |
9: 99,351,684 (GRCm39) |
C223R |
probably damaging |
Het |
Nucb1 |
G |
T |
7: 45,144,467 (GRCm39) |
|
probably benign |
Het |
Ocrl |
G |
A |
X: 47,022,315 (GRCm39) |
D262N |
probably benign |
Het |
Or13a18 |
A |
C |
7: 140,190,081 (GRCm39) |
M1L |
probably benign |
Het |
Or5b98 |
T |
A |
19: 12,931,556 (GRCm39) |
I201N |
possibly damaging |
Het |
Or6b1 |
A |
C |
6: 42,815,738 (GRCm39) |
I308L |
probably benign |
Het |
P4ha1 |
A |
G |
10: 59,206,824 (GRCm39) |
|
probably null |
Het |
Parp8 |
T |
C |
13: 116,998,838 (GRCm39) |
|
probably benign |
Het |
Pcdhb6 |
A |
G |
18: 37,468,507 (GRCm39) |
D476G |
probably damaging |
Het |
Pikfyve |
A |
G |
1: 65,303,535 (GRCm39) |
E1685G |
possibly damaging |
Het |
Plod2 |
T |
A |
9: 92,489,147 (GRCm39) |
L714Q |
probably damaging |
Het |
Plscr2 |
A |
G |
9: 92,171,716 (GRCm39) |
I103V |
probably benign |
Het |
Plscr3 |
C |
A |
11: 69,738,209 (GRCm39) |
|
probably benign |
Het |
Pmaip1 |
A |
G |
18: 66,596,370 (GRCm39) |
R80G |
probably damaging |
Het |
Ppm1d |
C |
T |
11: 85,230,492 (GRCm39) |
P370L |
possibly damaging |
Het |
Prr36 |
C |
A |
8: 4,266,407 (GRCm39) |
E48* |
probably null |
Het |
Ptgir |
G |
A |
7: 16,641,409 (GRCm39) |
V234I |
possibly damaging |
Het |
Ptk7 |
A |
T |
17: 46,901,070 (GRCm39) |
V219E |
probably benign |
Het |
Rab39b |
T |
A |
X: 74,618,609 (GRCm39) |
I74F |
probably damaging |
Het |
Rasal2 |
A |
T |
1: 156,977,449 (GRCm39) |
M1075K |
possibly damaging |
Het |
Rpl37a |
G |
A |
1: 72,750,885 (GRCm39) |
A20T |
probably null |
Het |
Serpinb10 |
A |
C |
1: 107,466,155 (GRCm39) |
|
probably null |
Het |
Sipa1l1 |
T |
A |
12: 82,471,868 (GRCm39) |
Y1283N |
probably damaging |
Het |
Slc22a23 |
T |
A |
13: 34,528,468 (GRCm39) |
I105F |
possibly damaging |
Het |
Slc25a20 |
T |
A |
9: 108,559,599 (GRCm39) |
I221N |
probably damaging |
Het |
Smarcal1 |
A |
T |
1: 72,659,247 (GRCm39) |
H691L |
probably damaging |
Het |
Smo |
A |
C |
6: 29,758,480 (GRCm39) |
T542P |
probably damaging |
Het |
Spats2 |
T |
A |
15: 99,071,329 (GRCm39) |
I51N |
probably damaging |
Het |
Spon1 |
G |
T |
7: 113,635,897 (GRCm39) |
V704L |
probably benign |
Het |
Tex9 |
T |
A |
9: 72,389,774 (GRCm39) |
Q112L |
probably benign |
Het |
Tgfbr2 |
T |
C |
9: 115,919,486 (GRCm39) |
E580G |
probably benign |
Het |
Top2b |
T |
A |
14: 16,387,335 (GRCm38) |
V141E |
probably benign |
Het |
Umodl1 |
G |
T |
17: 31,217,628 (GRCm39) |
V1145F |
probably damaging |
Het |
Vasp |
C |
A |
7: 18,992,748 (GRCm39) |
|
probably benign |
Het |
Vmn1r8 |
G |
T |
6: 57,013,556 (GRCm39) |
L202F |
probably damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,787,837 (GRCm39) |
T505A |
probably benign |
Het |
Wdr27 |
A |
G |
17: 15,112,693 (GRCm39) |
|
probably benign |
Het |
Wfdc1 |
T |
G |
8: 120,406,909 (GRCm39) |
V109G |
probably damaging |
Het |
Zan |
C |
A |
5: 137,463,056 (GRCm39) |
E708* |
probably null |
Het |
Zbtb1 |
T |
A |
12: 76,432,169 (GRCm39) |
F52I |
possibly damaging |
Het |
Zfp236 |
A |
G |
18: 82,648,117 (GRCm39) |
S1015P |
probably damaging |
Het |
Zfp532 |
T |
C |
18: 65,757,113 (GRCm39) |
S349P |
probably damaging |
Het |
Znfx1 |
A |
T |
2: 166,889,550 (GRCm39) |
C731S |
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 |
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 |
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 |
|
|
Posted On |
2015-04-16 |