Incidental Mutation 'R1569:Trhde'
| ID |
177130 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trhde
|
| Ensembl Gene |
ENSMUSG00000050663 |
| Gene Name |
TRH-degrading enzyme |
| Synonyms |
9330155P21Rik |
| MMRRC Submission |
039608-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R1569 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
114234725-114638207 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 114282093 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 795
(W795R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061632]
|
| AlphaFold |
Q8K093 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061632
AA Change: W795R
PolyPhen 2
Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000057449
Gene: ENSMUSG00000050663
AA Change: W795R
| 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 |
0.2656 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.3%
|
| Validation Efficiency |
96% (72/75) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
A |
9: 124,056,427 (GRCm39) |
K166* |
probably null |
Het |
| Abca2 |
T |
A |
2: 25,329,197 (GRCm39) |
N1012K |
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,981,458 (GRCm39) |
V914A |
possibly damaging |
Het |
| Akap1 |
T |
A |
11: 88,724,006 (GRCm39) |
M833L |
probably benign |
Het |
| Atp2b1 |
T |
A |
10: 98,823,188 (GRCm39) |
H249Q |
probably benign |
Het |
| Atp6v0a4 |
A |
G |
6: 38,027,560 (GRCm39) |
V750A |
probably damaging |
Het |
| Car6 |
T |
C |
4: 150,285,499 (GRCm39) |
Y23C |
probably damaging |
Het |
| Celsr3 |
A |
G |
9: 108,706,267 (GRCm39) |
T917A |
probably damaging |
Het |
| Clmn |
C |
A |
12: 104,747,340 (GRCm39) |
D736Y |
probably damaging |
Het |
| Dclk2 |
C |
T |
3: 86,712,946 (GRCm39) |
R503Q |
possibly damaging |
Het |
| Dennd4c |
G |
A |
4: 86,704,331 (GRCm39) |
R282H |
possibly damaging |
Het |
| Dsg1b |
T |
A |
18: 20,529,537 (GRCm39) |
N327K |
probably damaging |
Het |
| Eftud2 |
A |
T |
11: 102,745,597 (GRCm39) |
|
probably benign |
Het |
| Esyt1 |
G |
T |
10: 128,354,863 (GRCm39) |
S512R |
possibly damaging |
Het |
| Fam124b |
T |
C |
1: 80,190,852 (GRCm39) |
Y177C |
possibly damaging |
Het |
| Fbxl5 |
A |
T |
5: 43,922,803 (GRCm39) |
I205K |
probably damaging |
Het |
| Fcrl1 |
A |
G |
3: 87,292,012 (GRCm39) |
Y57C |
probably damaging |
Het |
| Gabpb1 |
A |
T |
2: 126,494,171 (GRCm39) |
D151E |
probably benign |
Het |
| Gcc2 |
C |
T |
10: 58,105,993 (GRCm39) |
L310F |
probably benign |
Het |
| Hsd11b1 |
C |
G |
1: 192,922,635 (GRCm39) |
E141Q |
probably damaging |
Het |
| Htr1b |
A |
G |
9: 81,514,340 (GRCm39) |
V89A |
probably benign |
Het |
| Ibsp |
A |
T |
5: 104,458,017 (GRCm39) |
T185S |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,896,771 (GRCm39) |
D1265G |
probably benign |
Het |
| Ints9 |
T |
C |
14: 65,217,571 (GRCm39) |
Y33H |
possibly damaging |
Het |
| Kif1a |
A |
T |
1: 92,986,532 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
A |
T |
17: 68,087,613 (GRCm39) |
|
probably null |
Het |
| Lbp |
A |
T |
2: 158,161,607 (GRCm39) |
D223V |
probably damaging |
Het |
| Lck |
C |
A |
4: 129,449,449 (GRCm39) |
D283Y |
probably damaging |
Het |
| Lcmt2 |
A |
G |
2: 120,970,309 (GRCm39) |
F258S |
probably damaging |
Het |
| Lsg1 |
G |
T |
16: 30,399,823 (GRCm39) |
|
probably null |
Het |
| Maip1 |
T |
C |
1: 57,452,554 (GRCm39) |
|
probably benign |
Het |
| Mark3 |
T |
G |
12: 111,600,180 (GRCm39) |
I465S |
probably benign |
Het |
| Marveld2 |
C |
T |
13: 100,737,506 (GRCm39) |
V128I |
probably benign |
Het |
| Mcm3ap |
A |
G |
10: 76,319,022 (GRCm39) |
H750R |
possibly damaging |
Het |
| Mdn1 |
A |
T |
4: 32,723,501 (GRCm39) |
Q2479L |
probably null |
Het |
| Met |
A |
T |
6: 17,531,503 (GRCm39) |
K594* |
probably null |
Het |
| Pak2 |
G |
T |
16: 31,856,113 (GRCm39) |
S241R |
probably damaging |
Het |
| Plxna4 |
T |
C |
6: 32,162,410 (GRCm39) |
I1368V |
possibly damaging |
Het |
| Pparg |
T |
C |
6: 115,416,960 (GRCm39) |
I51T |
probably benign |
Het |
| Ppp1r18 |
A |
G |
17: 36,179,595 (GRCm39) |
E62G |
probably damaging |
Het |
| Prkag2 |
T |
C |
5: 25,152,475 (GRCm39) |
S86G |
possibly damaging |
Het |
| Rabgap1l |
A |
T |
1: 160,529,960 (GRCm39) |
I347K |
probably benign |
Het |
| Rdh1 |
A |
T |
10: 127,598,941 (GRCm39) |
M141L |
probably benign |
Het |
| Rfx2 |
A |
T |
17: 57,111,326 (GRCm39) |
I82N |
possibly damaging |
Het |
| Sh2b2 |
G |
A |
5: 136,260,589 (GRCm39) |
A209V |
possibly damaging |
Het |
| Sh3d19 |
G |
A |
3: 86,033,951 (GRCm39) |
R768H |
possibly damaging |
Het |
| Sh3rf1 |
C |
T |
8: 61,837,896 (GRCm39) |
P814S |
probably damaging |
Het |
| Shbg |
T |
A |
11: 69,508,415 (GRCm39) |
|
probably benign |
Het |
| Slc15a2 |
T |
C |
16: 36,576,745 (GRCm39) |
T430A |
probably benign |
Het |
| Slc17a3 |
A |
T |
13: 24,039,591 (GRCm39) |
I250F |
probably benign |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Spg11 |
A |
G |
2: 121,932,187 (GRCm39) |
S552P |
probably damaging |
Het |
| Srpk2 |
A |
G |
5: 23,719,024 (GRCm39) |
I597T |
probably damaging |
Het |
| St6galnac1 |
T |
G |
11: 116,660,097 (GRCm39) |
N72T |
possibly damaging |
Het |
| Tecpr2 |
T |
A |
12: 110,911,321 (GRCm39) |
|
probably null |
Het |
| Tmem208 |
T |
A |
8: 106,061,462 (GRCm39) |
C163S |
possibly damaging |
Het |
| Tpte |
T |
C |
8: 22,835,047 (GRCm39) |
V401A |
probably damaging |
Het |
| Trpm3 |
G |
A |
19: 22,866,809 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,626,063 (GRCm39) |
T14999S |
possibly damaging |
Het |
| Txndc2 |
A |
T |
17: 65,945,921 (GRCm39) |
N85K |
probably benign |
Het |
| Yes1 |
A |
G |
5: 32,810,507 (GRCm39) |
Y192C |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,427,392 (GRCm39) |
V2415A |
unknown |
Het |
| Zfp410 |
T |
A |
12: 84,379,726 (GRCm39) |
C311S |
probably damaging |
Het |
| Zfp51 |
A |
T |
17: 21,676,642 (GRCm39) |
M38L |
probably benign |
Het |
| Zfp560 |
A |
T |
9: 20,260,011 (GRCm39) |
C284S |
possibly damaging |
Het |
| Zfp808 |
C |
T |
13: 62,320,714 (GRCm39) |
R648* |
probably null |
Het |
| Zfp976 |
G |
T |
7: 42,262,806 (GRCm39) |
H344N |
probably 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 |
|
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'- GTGCAGGTTCTGATCCCAAGATCAC -3'
(R):5'- TGGCATCTACTCACATAGGCACCC -3'
Sequencing Primer
(F):5'- GCAGCAAAAACTGTGTTGCTC -3'
(R):5'- cacccagacctatgcaaaaac -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation