Incidental Mutation 'R0457:Trhde'
ID |
41235 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trhde
|
Ensembl Gene |
ENSMUSG00000050663 |
Gene Name |
TRH-degrading enzyme |
Synonyms |
9330155P21Rik |
MMRRC Submission |
038657-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.103)
|
Stock # |
R0457 (G1)
|
Quality Score |
136 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
114234725-114638207 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 114284167 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 772
(M772K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000057449
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061632]
|
AlphaFold |
Q8K093 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000061632
AA Change: M772K
PolyPhen 2
Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000057449 Gene: ENSMUSG00000050663 AA Change: M772K
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: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.9%
|
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 |
Aadacl2fm1 |
A |
G |
3: 59,844,054 (GRCm39) |
I249M |
possibly damaging |
Het |
Adcy5 |
T |
C |
16: 35,094,915 (GRCm39) |
S691P |
probably benign |
Het |
Ajm1 |
G |
T |
2: 25,468,358 (GRCm39) |
R518S |
possibly damaging |
Het |
Aspscr1 |
A |
G |
11: 120,568,444 (GRCm39) |
E12G |
probably benign |
Het |
Atp2a2 |
T |
C |
5: 122,607,777 (GRCm39) |
Q244R |
probably benign |
Het |
Birc6 |
A |
G |
17: 74,959,023 (GRCm39) |
M3818V |
probably benign |
Het |
Birc6 |
C |
T |
17: 74,969,620 (GRCm39) |
A4230V |
probably damaging |
Het |
Bub1b |
T |
C |
2: 118,440,340 (GRCm39) |
F148S |
probably damaging |
Het |
C1ra |
T |
C |
6: 124,499,712 (GRCm39) |
S633P |
probably benign |
Het |
Cacna2d1 |
A |
G |
5: 16,472,414 (GRCm39) |
T274A |
probably damaging |
Het |
Cmya5 |
A |
G |
13: 93,232,095 (GRCm39) |
W998R |
possibly damaging |
Het |
Crbn |
T |
C |
6: 106,758,018 (GRCm39) |
K404R |
probably benign |
Het |
Cryga |
T |
C |
1: 65,142,204 (GRCm39) |
Y63C |
probably damaging |
Het |
Csmd1 |
C |
A |
8: 16,551,407 (GRCm39) |
|
probably null |
Het |
Defa-ps1 |
A |
T |
8: 22,185,758 (GRCm39) |
|
noncoding transcript |
Het |
Dnajc10 |
T |
A |
2: 80,175,290 (GRCm39) |
V559D |
possibly damaging |
Het |
Dock1 |
A |
T |
7: 134,739,874 (GRCm39) |
E1423D |
possibly damaging |
Het |
Dpf3 |
A |
T |
12: 83,319,179 (GRCm39) |
S44T |
probably damaging |
Het |
Dyrk3 |
A |
T |
1: 131,064,094 (GRCm39) |
V31D |
possibly damaging |
Het |
F5 |
T |
C |
1: 164,021,769 (GRCm39) |
S1415P |
probably benign |
Het |
Fam186b |
A |
C |
15: 99,169,166 (GRCm39) |
I927S |
probably benign |
Het |
Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
Fer1l6 |
G |
A |
15: 58,509,943 (GRCm39) |
|
probably null |
Het |
Fndc7 |
G |
T |
3: 108,783,861 (GRCm39) |
S249R |
probably benign |
Het |
Ganab |
A |
G |
19: 8,884,614 (GRCm39) |
E139G |
possibly damaging |
Het |
Gbp5 |
A |
G |
3: 142,213,518 (GRCm39) |
D478G |
probably damaging |
Het |
Gm17324 |
T |
A |
9: 78,355,580 (GRCm39) |
M1K |
probably null |
Het |
Gtpbp6 |
T |
A |
5: 110,254,608 (GRCm39) |
R126S |
probably damaging |
Het |
Hapln4 |
G |
A |
8: 70,541,122 (GRCm39) |
W385* |
probably null |
Het |
Hmcn2 |
T |
A |
2: 31,305,296 (GRCm39) |
|
probably null |
Het |
Hsp90ab1 |
A |
G |
17: 45,879,914 (GRCm39) |
V534A |
probably damaging |
Het |
Kat6b |
C |
A |
14: 21,720,598 (GRCm39) |
T1650K |
probably damaging |
Het |
Kpna1 |
T |
A |
16: 35,823,275 (GRCm39) |
D42E |
probably benign |
Het |
Lrrc14b |
A |
G |
13: 74,509,279 (GRCm39) |
M376T |
probably benign |
Het |
Lrrc40 |
A |
G |
3: 157,760,201 (GRCm39) |
|
probably null |
Het |
Ltv1 |
T |
C |
10: 13,067,887 (GRCm39) |
T34A |
probably benign |
Het |
Mga |
T |
A |
2: 119,746,969 (GRCm39) |
N373K |
probably damaging |
Het |
Msh3 |
A |
T |
13: 92,357,505 (GRCm39) |
M101K |
probably damaging |
Het |
Mthfd2l |
T |
C |
5: 91,168,065 (GRCm39) |
M320T |
possibly damaging |
Het |
Mug1 |
G |
A |
6: 121,838,514 (GRCm39) |
E506K |
probably benign |
Het |
Ngb |
T |
C |
12: 87,147,503 (GRCm39) |
D54G |
probably damaging |
Het |
Ntrk1 |
A |
G |
3: 87,699,014 (GRCm39) |
F84L |
probably benign |
Het |
Or1j18 |
A |
T |
2: 36,624,545 (GRCm39) |
I71F |
probably benign |
Het |
Or52n2b |
T |
A |
7: 104,566,180 (GRCm39) |
T108S |
probably benign |
Het |
Phf12 |
T |
A |
11: 77,908,994 (GRCm39) |
I358N |
possibly damaging |
Het |
Plec |
A |
G |
15: 76,061,801 (GRCm39) |
F2577S |
probably damaging |
Het |
Polr1c |
T |
A |
17: 46,558,689 (GRCm39) |
Y36F |
probably benign |
Het |
Prkd1 |
A |
T |
12: 50,413,155 (GRCm39) |
M672K |
probably damaging |
Het |
Prob1 |
T |
C |
18: 35,785,539 (GRCm39) |
Y905C |
probably damaging |
Het |
Ptpn23 |
T |
A |
9: 110,215,361 (GRCm39) |
H1433L |
possibly damaging |
Het |
Rnf11 |
A |
T |
4: 109,314,149 (GRCm39) |
L80Q |
probably damaging |
Het |
Sbp |
G |
A |
17: 24,164,286 (GRCm39) |
G183D |
probably benign |
Het |
Scgb2b7 |
A |
T |
7: 31,403,437 (GRCm39) |
C90S |
possibly damaging |
Het |
Slc4a9 |
T |
C |
18: 36,668,471 (GRCm39) |
L710P |
probably damaging |
Het |
Spire1 |
T |
A |
18: 67,685,670 (GRCm39) |
I35F |
probably damaging |
Het |
Sptbn2 |
T |
C |
19: 4,795,966 (GRCm39) |
V1715A |
possibly damaging |
Het |
St7 |
T |
C |
6: 17,819,281 (GRCm39) |
F62L |
probably damaging |
Het |
Svep1 |
C |
T |
4: 58,118,136 (GRCm39) |
G862D |
probably damaging |
Het |
Syne1 |
A |
T |
10: 4,972,041 (GRCm39) |
M8789K |
probably damaging |
Het |
Synpo2 |
A |
G |
3: 122,906,421 (GRCm39) |
L965P |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,608,851 (GRCm39) |
K15976* |
probably null |
Het |
Unc13a |
A |
C |
8: 72,110,645 (GRCm39) |
|
probably null |
Het |
Vcan |
T |
C |
13: 89,851,318 (GRCm39) |
E1214G |
possibly damaging |
Het |
Vmn1r29 |
T |
C |
6: 58,285,072 (GRCm39) |
V264A |
probably benign |
Het |
Vmn1r60 |
T |
A |
7: 5,548,118 (GRCm39) |
|
probably benign |
Het |
Wdr90 |
C |
T |
17: 26,079,459 (GRCm39) |
R225H |
probably benign |
Het |
Wnk1 |
G |
A |
6: 119,946,293 (GRCm39) |
T620I |
probably damaging |
Het |
Zan |
C |
T |
5: 137,405,968 (GRCm39) |
|
probably benign |
Het |
Zfp37 |
A |
T |
4: 62,109,902 (GRCm39) |
C387* |
probably null |
Het |
Zfp521 |
T |
C |
18: 13,977,897 (GRCm39) |
T839A |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGTGAACACAGAGCCCTTTAACTCTGA -3'
(R):5'- TGACTCTGGCACCCTAATAAGCCAT -3'
Sequencing Primer
(F):5'- AGAGCCCTTTAACTCTGAAGAAG -3'
(R):5'- AAGTGTCCTTTCCTCAGACTATGATG -3'
|
Posted On |
2013-05-23 |