Incidental Mutation 'R9486:Trhde'
ID |
716599 |
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 # |
R9486 (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 G
at 114532014 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 362
(I362T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000057449
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061632]
|
AlphaFold |
Q8K093 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061632
AA Change: I362T
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000057449 Gene: ENSMUSG00000050663 AA Change: I362T
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 |
|
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 |
A2ml1 |
A |
G |
6: 128,546,942 (GRCm39) |
F396L |
probably damaging |
Het |
Abca13 |
T |
C |
11: 9,240,621 (GRCm39) |
I828T |
possibly damaging |
Het |
Ace3 |
A |
T |
11: 105,896,219 (GRCm39) |
T722S |
probably benign |
Het |
Acot2 |
A |
G |
12: 84,039,426 (GRCm39) |
T312A |
probably benign |
Het |
Adra2a |
A |
G |
19: 54,035,963 (GRCm39) |
I440V |
probably damaging |
Het |
Arhgap22 |
T |
A |
14: 33,073,303 (GRCm39) |
M4K |
probably benign |
Het |
Atp8b3 |
C |
T |
10: 80,366,821 (GRCm39) |
C259Y |
probably damaging |
Het |
Bcl2 |
T |
A |
1: 106,471,109 (GRCm39) |
Y199F |
probably benign |
Het |
Brca1 |
A |
T |
11: 101,414,520 (GRCm39) |
C1205S |
probably benign |
Het |
Col7a1 |
T |
C |
9: 108,811,396 (GRCm39) |
V2743A |
unknown |
Het |
Crybg1 |
A |
G |
10: 43,880,145 (GRCm39) |
|
probably benign |
Het |
Cyp2c40 |
T |
A |
19: 39,755,808 (GRCm39) |
H502L |
probably benign |
Het |
Cyp2c40 |
A |
T |
19: 39,796,050 (GRCm39) |
Y109* |
probably null |
Het |
Cyp4a29 |
T |
C |
4: 115,106,916 (GRCm39) |
M191T |
probably damaging |
Het |
Dcaf1 |
A |
G |
9: 106,735,916 (GRCm39) |
R955G |
possibly damaging |
Het |
Dcaf4 |
G |
T |
12: 83,582,726 (GRCm39) |
A274S |
probably damaging |
Het |
Dlx1 |
A |
G |
2: 71,362,828 (GRCm39) |
H245R |
probably damaging |
Het |
Dnah14 |
A |
G |
1: 181,508,494 (GRCm39) |
N1891D |
possibly damaging |
Het |
Dock10 |
A |
T |
1: 80,479,452 (GRCm39) |
V2167D |
unknown |
Het |
Epyc |
A |
G |
10: 97,511,697 (GRCm39) |
Q230R |
probably benign |
Het |
Etnk1 |
G |
A |
6: 143,130,310 (GRCm39) |
R143H |
probably damaging |
Het |
Fhip2b |
T |
C |
14: 70,826,479 (GRCm39) |
D203G |
probably benign |
Het |
Fmo2 |
T |
C |
1: 162,708,292 (GRCm39) |
E281G |
probably damaging |
Het |
Gm2042 |
T |
A |
12: 87,925,963 (GRCm39) |
Y304N |
possibly damaging |
Het |
Hecw2 |
T |
C |
1: 53,852,466 (GRCm39) |
D1551G |
probably damaging |
Het |
Hgd |
A |
T |
16: 37,413,811 (GRCm39) |
D91V |
probably benign |
Het |
Hspa12a |
A |
G |
19: 58,797,891 (GRCm39) |
F276L |
probably benign |
Het |
Ifitm10 |
C |
T |
7: 141,909,812 (GRCm39) |
V95M |
probably damaging |
Het |
Ints3 |
G |
A |
3: 90,313,579 (GRCm39) |
R350* |
probably null |
Het |
Kdm4c |
T |
A |
4: 74,252,966 (GRCm39) |
I511K |
probably benign |
Het |
Kif27 |
A |
G |
13: 58,492,348 (GRCm39) |
S264P |
probably damaging |
Het |
L1td1 |
A |
G |
4: 98,624,899 (GRCm39) |
T365A |
probably benign |
Het |
Ltbp2 |
T |
A |
12: 84,878,648 (GRCm39) |
T304S |
possibly damaging |
Het |
Mamdc4 |
T |
A |
2: 25,455,164 (GRCm39) |
Y962F |
probably benign |
Het |
Map3k4 |
C |
T |
17: 12,489,860 (GRCm39) |
A524T |
probably damaging |
Het |
Mfsd8 |
C |
T |
3: 40,789,627 (GRCm39) |
R140H |
probably damaging |
Het |
Mmp3 |
A |
G |
9: 7,451,256 (GRCm39) |
I331V |
possibly damaging |
Het |
Mpdz |
T |
A |
4: 81,254,043 (GRCm39) |
I1030F |
probably damaging |
Het |
Mtx1 |
A |
T |
3: 89,120,163 (GRCm39) |
C62S |
|
Het |
Muc20 |
A |
T |
16: 32,615,248 (GRCm39) |
V43E |
possibly damaging |
Het |
Naa25 |
A |
G |
5: 121,577,958 (GRCm39) |
E955G |
probably damaging |
Het |
Nelfcd |
A |
G |
2: 174,268,635 (GRCm39) |
Y562C |
probably damaging |
Het |
Nsd2 |
T |
A |
5: 34,018,493 (GRCm39) |
M509K |
probably benign |
Het |
Obscn |
T |
C |
11: 58,918,272 (GRCm39) |
T207A |
|
Het |
Or1ad1 |
T |
A |
11: 50,875,691 (GRCm39) |
H54Q |
possibly damaging |
Het |
Or4a39 |
C |
T |
2: 89,236,959 (GRCm39) |
V155M |
possibly damaging |
Het |
Or4k5 |
T |
A |
14: 50,385,672 (GRCm39) |
I220L |
probably benign |
Het |
Osbpl11 |
A |
T |
16: 33,006,283 (GRCm39) |
N37I |
possibly damaging |
Het |
Pcdh9 |
A |
G |
14: 93,797,956 (GRCm39) |
S1032P |
possibly damaging |
Het |
Pde6b |
T |
A |
5: 108,551,241 (GRCm39) |
I175N |
probably damaging |
Het |
Pfkl |
T |
A |
10: 77,824,184 (GRCm39) |
M735L |
probably benign |
Het |
Pkp4 |
T |
C |
2: 59,138,722 (GRCm39) |
V324A |
probably benign |
Het |
Ptprb |
T |
A |
10: 116,155,494 (GRCm39) |
C462* |
probably null |
Het |
Rasal3 |
T |
C |
17: 32,617,910 (GRCm39) |
N221S |
probably benign |
Het |
Reep1 |
A |
T |
6: 71,684,969 (GRCm39) |
I6F |
probably benign |
Het |
Rhobtb1 |
T |
A |
10: 69,106,621 (GRCm39) |
F457L |
probably damaging |
Het |
Ryr1 |
T |
C |
7: 28,777,965 (GRCm39) |
N2184S |
probably benign |
Het |
Scn11a |
T |
G |
9: 119,624,774 (GRCm39) |
H516P |
possibly damaging |
Het |
Sipa1l1 |
T |
C |
12: 82,404,139 (GRCm39) |
|
probably null |
Het |
Slc17a7 |
A |
G |
7: 44,821,606 (GRCm39) |
N381S |
possibly damaging |
Het |
Slc38a3 |
C |
T |
9: 107,536,322 (GRCm39) |
V25M |
probably benign |
Het |
Spag1 |
T |
G |
15: 36,181,954 (GRCm39) |
D37E |
probably damaging |
Het |
Spib |
G |
T |
7: 44,178,815 (GRCm39) |
D114E |
possibly damaging |
Het |
Tpx2 |
A |
T |
2: 152,726,933 (GRCm39) |
Y400F |
probably damaging |
Het |
Usp17ld |
C |
T |
7: 102,899,381 (GRCm39) |
G517E |
probably benign |
Het |
Vmn1r22 |
A |
T |
6: 57,877,404 (GRCm39) |
M191K |
probably damaging |
Het |
Wdr6 |
G |
A |
9: 108,453,182 (GRCm39) |
R234C |
probably damaging |
Het |
Zdhhc22 |
C |
T |
12: 87,030,398 (GRCm39) |
M183I |
probably benign |
Het |
Zfp1007 |
C |
A |
5: 109,824,062 (GRCm39) |
G463* |
probably null |
Het |
Zfp949 |
C |
A |
9: 88,452,182 (GRCm39) |
T584N |
probably benign |
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 |
R9477:Trhde
|
UTSW |
10 |
114,338,980 (GRCm39) |
missense |
probably benign |
0.03 |
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'- GATGCCTCAGCTAGTGATAAAGAAG -3'
(R):5'- AATTGTGACTTGCTCGACTCAG -3'
Sequencing Primer
(F):5'- TCAGCTAGTGATAAAGAAGAAATCCC -3'
(R):5'- GACTCAGCCACATCAATTGTTTC -3'
|
Posted On |
2022-07-18 |