Incidental Mutation 'R1976:Trhde'
| ID |
221738 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trhde
|
| Ensembl Gene |
ENSMUSG00000050663 |
| Gene Name |
TRH-degrading enzyme |
| Synonyms |
9330155P21Rik |
| MMRRC Submission |
039989-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R1976 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
114234725-114638207 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 114424336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Threonine
at position 483
(N483T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061632]
|
| AlphaFold |
Q8K093 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061632
AA Change: N483T
PolyPhen 2
Score 0.575 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000057449
Gene: ENSMUSG00000050663
AA Change: N483T
| 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: ENSMUST00000152702
|
| Meta Mutation Damage Score |
0.1925 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
98% (65/66) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,347,815 (GRCm39) |
V3556A |
probably damaging |
Het |
| Abcb5 |
T |
C |
12: 118,854,417 (GRCm39) |
I833V |
probably benign |
Het |
| Adgrd1 |
A |
T |
5: 129,217,861 (GRCm39) |
H432L |
probably benign |
Het |
| Alppl2 |
T |
A |
1: 87,016,463 (GRCm39) |
I204F |
probably damaging |
Het |
| Ascc3 |
T |
A |
10: 50,525,262 (GRCm39) |
F486I |
probably damaging |
Het |
| Bcl9l |
T |
A |
9: 44,417,449 (GRCm39) |
L429Q |
possibly damaging |
Het |
| Ccdc33 |
A |
T |
9: 58,024,445 (GRCm39) |
Y227* |
probably null |
Het |
| Cd101 |
A |
G |
3: 100,915,377 (GRCm39) |
V730A |
probably damaging |
Het |
| Cdadc1 |
A |
T |
14: 59,811,217 (GRCm39) |
V431E |
probably damaging |
Het |
| Dazap1 |
T |
A |
10: 80,110,454 (GRCm39) |
|
probably null |
Het |
| Dbpht2 |
T |
A |
12: 74,342,635 (GRCm39) |
|
noncoding transcript |
Het |
| Dennd4b |
A |
T |
3: 90,180,362 (GRCm39) |
T742S |
probably damaging |
Het |
| Dhtkd1 |
T |
C |
2: 5,907,202 (GRCm39) |
E838G |
possibly damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,129,045 (GRCm39) |
D1823E |
probably benign |
Het |
| Enox1 |
T |
A |
14: 77,906,233 (GRCm39) |
N556K |
probably benign |
Het |
| Fam227a |
T |
C |
15: 79,510,477 (GRCm39) |
I392M |
possibly damaging |
Het |
| Fnip2 |
A |
T |
3: 79,388,238 (GRCm39) |
M831K |
probably benign |
Het |
| Foxn1 |
T |
C |
11: 78,256,763 (GRCm39) |
|
probably benign |
Het |
| Garre1 |
A |
C |
7: 33,956,805 (GRCm39) |
N353K |
probably damaging |
Het |
| Glis3 |
T |
C |
19: 28,240,077 (GRCm39) |
936 |
probably benign |
Het |
| Gm4953 |
T |
A |
1: 158,995,923 (GRCm39) |
|
noncoding transcript |
Het |
| Gsr |
T |
G |
8: 34,170,288 (GRCm39) |
|
probably null |
Het |
| Habp4 |
G |
T |
13: 64,332,420 (GRCm39) |
V344F |
probably benign |
Het |
| Hdac7 |
G |
A |
15: 97,704,386 (GRCm39) |
Q495* |
probably null |
Het |
| Helb |
T |
C |
10: 119,930,168 (GRCm39) |
D737G |
possibly damaging |
Het |
| Hltf |
A |
G |
3: 20,160,610 (GRCm39) |
D759G |
probably damaging |
Het |
| Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
| Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
| Itsn2 |
A |
G |
12: 4,722,733 (GRCm39) |
|
probably benign |
Het |
| Kank2 |
A |
T |
9: 21,705,857 (GRCm39) |
V387E |
probably damaging |
Het |
| Lefty1 |
T |
C |
1: 180,765,389 (GRCm39) |
V319A |
probably benign |
Het |
| Lonp1 |
T |
C |
17: 56,922,068 (GRCm39) |
T771A |
possibly damaging |
Het |
| Lpcat2b |
A |
T |
5: 107,581,716 (GRCm39) |
K348N |
possibly damaging |
Het |
| Lsamp |
T |
C |
16: 41,709,430 (GRCm39) |
V103A |
probably damaging |
Het |
| Ltbp4 |
A |
T |
7: 27,026,195 (GRCm39) |
C538S |
probably damaging |
Het |
| Micu1 |
T |
C |
10: 59,604,035 (GRCm39) |
S174P |
probably damaging |
Het |
| Mta1 |
A |
G |
12: 113,099,926 (GRCm39) |
N607S |
probably damaging |
Het |
| Muc5b |
C |
T |
7: 141,416,891 (GRCm39) |
S3279L |
probably benign |
Het |
| Naalad2 |
T |
C |
9: 18,289,995 (GRCm39) |
E211G |
probably damaging |
Het |
| Nup155 |
T |
A |
15: 8,165,311 (GRCm39) |
M649K |
probably benign |
Het |
| Pan2 |
T |
C |
10: 128,156,282 (GRCm39) |
V1171A |
probably damaging |
Het |
| Pisd |
A |
G |
5: 32,896,209 (GRCm39) |
V372A |
probably damaging |
Het |
| Prim1 |
T |
A |
10: 127,859,668 (GRCm39) |
C288S |
probably benign |
Het |
| Rab23 |
T |
A |
1: 33,763,019 (GRCm39) |
C30S |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,440,344 (GRCm39) |
T797A |
probably benign |
Het |
| Sall3 |
T |
C |
18: 81,015,108 (GRCm39) |
D940G |
probably benign |
Het |
| Scn1a |
T |
C |
2: 66,161,615 (GRCm39) |
E311G |
probably benign |
Het |
| Sdk1 |
T |
A |
5: 142,129,573 (GRCm39) |
I1598N |
probably damaging |
Het |
| Slc22a17 |
A |
T |
14: 55,145,957 (GRCm39) |
|
probably null |
Het |
| Slc36a4 |
T |
A |
9: 15,645,506 (GRCm39) |
V311D |
probably damaging |
Het |
| Sprr3 |
T |
A |
3: 92,364,253 (GRCm39) |
Q197L |
possibly damaging |
Het |
| Stab2 |
A |
C |
10: 86,732,360 (GRCm39) |
|
probably null |
Het |
| Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
| Tas2r123 |
T |
A |
6: 132,824,295 (GRCm39) |
V64D |
probably damaging |
Het |
| Trp53 |
C |
T |
11: 69,479,323 (GRCm39) |
T167M |
probably damaging |
Het |
| Tspan8 |
A |
G |
10: 115,680,035 (GRCm39) |
I217V |
probably benign |
Het |
| Tut4 |
T |
C |
4: 108,336,720 (GRCm39) |
L148P |
probably benign |
Het |
| Usp17la |
A |
G |
7: 104,509,527 (GRCm39) |
E44G |
possibly damaging |
Het |
| Usp40 |
T |
G |
1: 87,906,258 (GRCm39) |
Q659P |
probably benign |
Het |
| Vmn1r4 |
T |
C |
6: 56,933,723 (GRCm39) |
C76R |
probably damaging |
Het |
| Vmn2r118 |
C |
T |
17: 55,899,925 (GRCm39) |
G660R |
probably damaging |
Het |
| Zfp786 |
T |
A |
6: 47,796,691 (GRCm39) |
H749L |
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 |
|
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 |
|
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'- TCTTGGAAGCAATACTGTGTCC -3'
(R):5'- ATCACTCTGAGATAGATGATGCTG -3'
Sequencing Primer
(F):5'- GAAGCAATACTGTGTCCTTATTTTTC -3'
(R):5'- CTTGTGACTCCAGTTTGG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation