Incidental Mutation 'R7842:Trhde'
ID |
606388 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trhde
|
Ensembl Gene |
ENSMUSG00000050663 |
Gene Name |
TRH-degrading enzyme |
Synonyms |
9330155P21Rik |
MMRRC Submission |
045896-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.103)
|
Stock # |
R7842 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
114234725-114638207 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 114532003 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 366
(S366T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000057449
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061632]
|
AlphaFold |
Q8K093 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061632
AA Change: S366T
PolyPhen 2
Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000057449 Gene: ENSMUSG00000050663 AA Change: S366T
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 |
0.0937 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
99% (77/78) |
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 |
1700034J05Rik |
T |
C |
6: 146,855,034 (GRCm39) |
T3A |
unknown |
Het |
4933412E24Rik |
T |
C |
15: 59,888,422 (GRCm39) |
E6G |
probably damaging |
Het |
Abca6 |
A |
G |
11: 110,087,523 (GRCm39) |
L1135P |
possibly damaging |
Het |
Agps |
A |
G |
2: 75,681,876 (GRCm39) |
D113G |
probably damaging |
Het |
Ankhd1 |
G |
T |
18: 36,780,881 (GRCm39) |
V1978L |
probably benign |
Het |
Ankrd31 |
T |
A |
13: 96,957,966 (GRCm39) |
|
probably null |
Het |
Arhgap5 |
T |
A |
12: 52,565,480 (GRCm39) |
M817K |
possibly damaging |
Het |
Bdp1 |
C |
A |
13: 100,235,637 (GRCm39) |
V105F |
probably damaging |
Het |
Brdt |
A |
G |
5: 107,496,454 (GRCm39) |
N189D |
possibly damaging |
Het |
Ccdc180 |
A |
T |
4: 45,909,428 (GRCm39) |
N532I |
probably benign |
Het |
Ccnc |
A |
C |
4: 21,730,480 (GRCm39) |
K39T |
probably damaging |
Het |
Cfap251 |
T |
C |
5: 123,392,487 (GRCm39) |
V207A |
unknown |
Het |
Cfap57 |
C |
A |
4: 118,411,952 (GRCm39) |
G1231* |
probably null |
Het |
Chd7 |
A |
T |
4: 8,854,115 (GRCm39) |
T1896S |
probably benign |
Het |
Clk4 |
A |
T |
11: 51,171,956 (GRCm39) |
H412L |
probably benign |
Het |
Creld1 |
T |
C |
6: 113,465,100 (GRCm39) |
L109P |
probably damaging |
Het |
Cxxc4 |
A |
T |
3: 133,946,093 (GRCm39) |
I225L |
possibly damaging |
Het |
Cyp4f39 |
A |
T |
17: 32,702,291 (GRCm39) |
R263W |
probably benign |
Het |
Dennd10 |
G |
A |
19: 60,819,317 (GRCm39) |
A263T |
not run |
Het |
Dip2c |
T |
C |
13: 9,656,569 (GRCm39) |
|
probably null |
Het |
Dnah14 |
A |
G |
1: 181,455,463 (GRCm39) |
T863A |
probably damaging |
Het |
Dnah17 |
C |
A |
11: 117,970,508 (GRCm39) |
|
probably null |
Het |
Dnajc10 |
A |
G |
2: 80,175,409 (GRCm39) |
K599E |
probably benign |
Het |
Dnajc7 |
C |
A |
11: 100,489,544 (GRCm39) |
R101L |
probably benign |
Het |
Dnttip2 |
G |
A |
3: 122,069,990 (GRCm39) |
E402K |
probably benign |
Het |
Dusp22 |
T |
A |
13: 30,852,774 (GRCm39) |
|
probably null |
Het |
Egflam |
C |
A |
15: 7,280,675 (GRCm39) |
R450M |
probably null |
Het |
Eml5 |
C |
T |
12: 98,760,394 (GRCm39) |
R1785Q |
probably damaging |
Het |
Fam78b |
G |
T |
1: 166,829,178 (GRCm39) |
R15L |
probably damaging |
Het |
Fbxl5 |
A |
T |
5: 43,915,945 (GRCm39) |
I489N |
probably damaging |
Het |
Flt3 |
G |
A |
5: 147,271,263 (GRCm39) |
P893S |
probably damaging |
Het |
Gm17019 |
T |
C |
5: 15,081,049 (GRCm39) |
M131V |
possibly damaging |
Het |
Gm21560 |
T |
A |
14: 6,216,262 (GRCm38) |
I194F |
probably benign |
Het |
Gm28729 |
T |
C |
9: 96,399,705 (GRCm39) |
D158G |
probably damaging |
Het |
Gucy2c |
C |
T |
6: 136,746,814 (GRCm39) |
|
probably null |
Het |
Hectd1 |
C |
T |
12: 51,819,343 (GRCm39) |
G1247S |
probably damaging |
Het |
Ireb2 |
T |
A |
9: 54,816,970 (GRCm39) |
I946K |
probably benign |
Het |
Itgb4 |
A |
T |
11: 115,873,531 (GRCm39) |
D249V |
probably benign |
Het |
Klhdc7a |
A |
G |
4: 139,694,549 (GRCm39) |
S133P |
probably damaging |
Het |
Lsr |
A |
T |
7: 30,665,437 (GRCm39) |
D172E |
possibly damaging |
Het |
Macf1 |
T |
C |
4: 123,420,702 (GRCm39) |
E184G |
probably benign |
Het |
Map2 |
T |
A |
1: 66,455,570 (GRCm39) |
D1421E |
probably benign |
Het |
Map3k4 |
A |
T |
17: 12,490,030 (GRCm39) |
L467H |
possibly damaging |
Het |
Mogat1 |
T |
C |
1: 78,499,502 (GRCm39) |
|
probably null |
Het |
Mxra8 |
A |
G |
4: 155,927,367 (GRCm39) |
D384G |
probably damaging |
Het |
Myo15b |
A |
G |
11: 115,762,321 (GRCm39) |
T1214A |
|
Het |
Naip1 |
T |
C |
13: 100,563,506 (GRCm39) |
Y553C |
probably damaging |
Het |
Nln |
A |
T |
13: 104,189,137 (GRCm39) |
I278K |
probably benign |
Het |
Nsmaf |
T |
A |
4: 6,435,109 (GRCm39) |
|
probably null |
Het |
Nynrin |
A |
G |
14: 56,102,553 (GRCm39) |
R741G |
probably damaging |
Het |
Or4p8 |
A |
G |
2: 88,727,305 (GRCm39) |
V212A |
possibly damaging |
Het |
Or52e19b |
A |
G |
7: 103,032,783 (GRCm39) |
V142A |
probably benign |
Het |
Or5d38 |
C |
T |
2: 87,955,330 (GRCm39) |
|
probably benign |
Het |
Or8j3 |
G |
T |
2: 86,028,516 (GRCm39) |
Y193* |
probably null |
Het |
Orc1 |
A |
G |
4: 108,462,744 (GRCm39) |
H607R |
probably benign |
Het |
Pate2 |
A |
T |
9: 35,581,829 (GRCm39) |
Y41F |
probably damaging |
Het |
Pcdhb20 |
A |
T |
18: 37,638,112 (GRCm39) |
T213S |
possibly damaging |
Het |
Pcm1 |
G |
A |
8: 41,780,621 (GRCm39) |
E1858K |
possibly damaging |
Het |
Pla2g2d |
A |
G |
4: 138,506,089 (GRCm39) |
T59A |
probably damaging |
Het |
Ppl |
C |
T |
16: 4,906,725 (GRCm39) |
R1190H |
probably damaging |
Het |
Prl2c2 |
A |
G |
13: 13,179,907 (GRCm39) |
L2P |
probably benign |
Het |
Proz |
G |
A |
8: 13,113,406 (GRCm39) |
V76I |
probably benign |
Het |
Prr36 |
A |
G |
8: 4,260,953 (GRCm39) |
S955P |
probably benign |
Het |
Pter |
T |
C |
2: 12,983,352 (GRCm39) |
V119A |
probably damaging |
Het |
Qrich1 |
T |
A |
9: 108,433,567 (GRCm39) |
|
probably null |
Het |
Rbm15b |
T |
C |
9: 106,763,088 (GRCm39) |
E360G |
probably damaging |
Het |
Skint11 |
G |
A |
4: 114,101,968 (GRCm39) |
C327Y |
possibly damaging |
Het |
Spag17 |
T |
A |
3: 99,961,174 (GRCm39) |
S987T |
probably benign |
Het |
Spata31f3 |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
4: 42,871,823 (GRCm39) |
|
probably benign |
Het |
Tbx1 |
T |
C |
16: 18,405,365 (GRCm39) |
S100G |
unknown |
Het |
Tiam2 |
C |
T |
17: 3,568,399 (GRCm39) |
S1515L |
possibly damaging |
Het |
Togaram1 |
C |
A |
12: 65,013,233 (GRCm39) |
D161E |
probably damaging |
Het |
Ttc12 |
A |
G |
9: 49,349,724 (GRCm39) |
I691T |
possibly damaging |
Het |
Ube4a |
A |
G |
9: 44,861,025 (GRCm39) |
|
probably null |
Het |
Uggt2 |
A |
T |
14: 119,235,516 (GRCm39) |
I1453N |
probably damaging |
Het |
Unc79 |
T |
C |
12: 103,058,313 (GRCm39) |
S972P |
probably damaging |
Het |
Wdr20 |
G |
A |
12: 110,704,649 (GRCm39) |
D63N |
probably benign |
Het |
Wls |
T |
A |
3: 159,578,816 (GRCm39) |
I126N |
probably benign |
Het |
Xirp2 |
A |
G |
2: 67,355,289 (GRCm39) |
D3350G |
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 |
|
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'- TTATGCCACTAGATGCCTCAGC -3'
(R):5'- TTGTGACTTGCTCGACTCAGC -3'
Sequencing Primer
(F):5'- CTAGATGCCTCAGCTAGTGATAAAG -3'
(R):5'- GACTCAGCCACATCAATTGTTTC -3'
|
Posted On |
2019-12-20 |