Incidental Mutation 'R2356:Trhde'
| ID |
246945 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trhde
|
| Ensembl Gene |
ENSMUSG00000050663 |
| Gene Name |
TRH-degrading enzyme |
| Synonyms |
9330155P21Rik |
| MMRRC Submission |
040338-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
R2356 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
114234725-114638207 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 114237421 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 986
(Y986C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061632]
|
| AlphaFold |
Q8K093 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061632
AA Change: Y986C
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000057449
Gene: ENSMUSG00000050663
AA Change: Y986C
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
G |
T |
16: 20,379,249 (GRCm39) |
R705L |
probably benign |
Het |
| Adcy6 |
A |
T |
15: 98,494,897 (GRCm39) |
|
probably null |
Het |
| Ank1 |
A |
T |
8: 23,575,688 (GRCm39) |
T145S |
probably damaging |
Het |
| Aph1a |
T |
C |
3: 95,801,544 (GRCm39) |
F21S |
probably benign |
Het |
| Apoa5 |
T |
A |
9: 46,181,341 (GRCm39) |
V139E |
probably damaging |
Het |
| Arhgap44 |
T |
C |
11: 64,900,851 (GRCm39) |
K595R |
probably damaging |
Het |
| Arhgap5 |
C |
T |
12: 52,565,930 (GRCm39) |
P967L |
probably benign |
Het |
| Atp13a5 |
A |
T |
16: 29,099,887 (GRCm39) |
I683N |
probably damaging |
Het |
| Cdc6 |
A |
G |
11: 98,810,118 (GRCm39) |
T476A |
probably benign |
Het |
| Cdk10 |
T |
C |
8: 123,955,908 (GRCm39) |
V199A |
probably damaging |
Het |
| Ces2h |
G |
A |
8: 105,742,570 (GRCm39) |
C94Y |
probably damaging |
Het |
| Clcn1 |
G |
A |
6: 42,268,559 (GRCm39) |
G155D |
probably damaging |
Het |
| Cxcr4 |
A |
G |
1: 128,517,251 (GRCm39) |
Y135H |
probably damaging |
Het |
| Dapp1 |
A |
G |
3: 137,643,510 (GRCm39) |
V184A |
possibly damaging |
Het |
| Dhrs7 |
A |
C |
12: 72,699,155 (GRCm39) |
S276A |
probably benign |
Het |
| Dlg5 |
A |
G |
14: 24,220,496 (GRCm39) |
|
probably null |
Het |
| Dnaaf1 |
T |
A |
8: 120,315,026 (GRCm39) |
F278Y |
probably damaging |
Het |
| Dnaaf2 |
A |
G |
12: 69,244,992 (GRCm39) |
F23S |
probably benign |
Het |
| En2 |
G |
T |
5: 28,371,330 (GRCm39) |
|
probably benign |
Het |
| Erbb4 |
T |
A |
1: 68,117,755 (GRCm39) |
M887L |
probably benign |
Het |
| Exoc5 |
T |
C |
14: 49,253,738 (GRCm39) |
M482V |
probably benign |
Het |
| Foxk1 |
A |
G |
5: 142,441,164 (GRCm39) |
I571V |
possibly damaging |
Het |
| Fry |
G |
A |
5: 150,394,897 (GRCm39) |
G650D |
probably benign |
Het |
| Gm8225 |
T |
C |
17: 26,762,378 (GRCm39) |
S190P |
probably damaging |
Het |
| Gpx5 |
G |
C |
13: 21,475,538 (GRCm39) |
H63D |
possibly damaging |
Het |
| Ipo9 |
A |
T |
1: 135,334,555 (GRCm39) |
S285T |
probably benign |
Het |
| Itga8 |
T |
C |
2: 12,204,952 (GRCm39) |
H495R |
probably benign |
Het |
| Klf11 |
T |
C |
12: 24,703,582 (GRCm39) |
S6P |
probably damaging |
Het |
| Krtap8-1 |
A |
T |
16: 89,284,789 (GRCm39) |
Y3N |
possibly damaging |
Het |
| Krtap8-1 |
G |
T |
16: 89,284,790 (GRCm39) |
Y2* |
probably null |
Het |
| Lama1 |
T |
A |
17: 68,117,109 (GRCm39) |
L2468Q |
probably damaging |
Het |
| Lmo7 |
T |
C |
14: 102,124,381 (GRCm39) |
L280S |
probably damaging |
Het |
| Matk |
G |
A |
10: 81,097,377 (GRCm39) |
|
probably null |
Het |
| Mcmdc2 |
A |
G |
1: 10,001,026 (GRCm39) |
T434A |
possibly damaging |
Het |
| Mst1r |
T |
A |
9: 107,795,069 (GRCm39) |
L1283Q |
probably damaging |
Het |
| Muc21 |
A |
G |
17: 35,932,563 (GRCm39) |
|
probably benign |
Het |
| Nbn |
T |
A |
4: 15,970,863 (GRCm39) |
I282N |
probably damaging |
Het |
| Ncln |
A |
G |
10: 81,328,756 (GRCm39) |
V174A |
probably benign |
Het |
| Nipa2 |
G |
A |
7: 55,582,714 (GRCm39) |
H344Y |
probably benign |
Het |
| Nlrp4g |
A |
G |
9: 124,349,306 (GRCm38) |
|
noncoding transcript |
Het |
| Or56b1 |
G |
T |
7: 104,285,834 (GRCm39) |
E318* |
probably null |
Het |
| Or6c38 |
T |
C |
10: 128,929,761 (GRCm39) |
I27M |
probably benign |
Het |
| Pik3r5 |
T |
C |
11: 68,383,743 (GRCm39) |
S521P |
probably damaging |
Het |
| Pkhd1l1 |
C |
T |
15: 44,396,415 (GRCm39) |
T1979M |
probably benign |
Het |
| Plekhn1 |
T |
G |
4: 156,307,158 (GRCm39) |
D464A |
probably damaging |
Het |
| Ppp4r1 |
T |
A |
17: 66,140,045 (GRCm39) |
Y648N |
probably damaging |
Het |
| Prkaa2 |
C |
T |
4: 104,896,918 (GRCm39) |
|
probably null |
Het |
| Prkdc |
T |
A |
16: 15,502,068 (GRCm39) |
H828Q |
probably benign |
Het |
| Prss40 |
A |
T |
1: 34,598,984 (GRCm39) |
Y69* |
probably null |
Het |
| Prx |
C |
T |
7: 27,207,284 (GRCm39) |
|
probably benign |
Het |
| Psmd11 |
T |
A |
11: 80,319,530 (GRCm39) |
S7T |
possibly damaging |
Het |
| Psmd14 |
A |
T |
2: 61,630,351 (GRCm39) |
H287L |
probably benign |
Het |
| Rcor1 |
T |
C |
12: 111,076,226 (GRCm39) |
Y297H |
probably damaging |
Het |
| Rnf40 |
T |
G |
7: 127,190,748 (GRCm39) |
V272G |
probably damaging |
Het |
| Serpina3f |
G |
T |
12: 104,183,626 (GRCm39) |
E163* |
probably null |
Het |
| Setd4 |
G |
A |
16: 93,387,871 (GRCm39) |
T205I |
probably damaging |
Het |
| Shroom1 |
A |
T |
11: 53,357,274 (GRCm39) |
T646S |
probably benign |
Het |
| Smg8 |
G |
C |
11: 86,976,554 (GRCm39) |
S342R |
probably benign |
Het |
| Spata31h1 |
A |
G |
10: 82,119,789 (GRCm39) |
V4407A |
possibly damaging |
Het |
| Tulp2 |
A |
T |
7: 45,168,052 (GRCm39) |
T155S |
possibly damaging |
Het |
| Vmn1r212 |
A |
T |
13: 23,068,120 (GRCm39) |
L71* |
probably null |
Het |
| Wnk2 |
A |
T |
13: 49,192,644 (GRCm39) |
C2032* |
probably null |
Het |
| Zfp429 |
A |
G |
13: 67,538,746 (GRCm39) |
Y233H |
probably benign |
Het |
| Zfp809 |
C |
A |
9: 22,154,336 (GRCm39) |
T351K |
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 |
|
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'- AATCCTCTCTCATGTTAACACTGAC -3'
(R):5'- ACTTAAAGCACGTGGAGCTAG -3'
Sequencing Primer
(F):5'- GTTAACACTGACATTCTGGCGAGC -3'
(R):5'- AGCTAGAGGGCTTCTTCTTCAAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation