Incidental Mutation 'R8178:Trhde'
| ID |
634499 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trhde
|
| Ensembl Gene |
ENSMUSG00000050663 |
| Gene Name |
TRH-degrading enzyme |
| Synonyms |
9330155P21Rik |
| MMRRC Submission |
067603-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R8178 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
114234725-114638207 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 114244598 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 963
(I963V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061632]
|
| AlphaFold |
Q8K093 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061632
AA Change: I963V
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000057449
Gene: ENSMUSG00000050663
AA Change: I963V
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 99.0%
|
| Validation Efficiency |
99% (68/69) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921513D11Rik |
A |
G |
17: 79,935,699 (GRCm39) |
I276V |
|
Het |
| Acsm5 |
C |
A |
7: 119,141,618 (GRCm39) |
H538N |
probably damaging |
Het |
| Adamts17 |
A |
G |
7: 66,499,464 (GRCm39) |
I4V |
possibly damaging |
Het |
| Adgrg3 |
T |
C |
8: 95,761,675 (GRCm39) |
V146A |
probably damaging |
Het |
| Ankrd52 |
T |
A |
10: 128,225,170 (GRCm39) |
L877Q |
probably damaging |
Het |
| Aox3 |
A |
T |
1: 58,189,481 (GRCm39) |
D394V |
possibly damaging |
Het |
| Arhgap45 |
G |
A |
10: 79,863,706 (GRCm39) |
A819T |
probably damaging |
Het |
| Arhgef4 |
A |
G |
1: 34,761,983 (GRCm39) |
E413G |
unknown |
Het |
| Arhgef5 |
T |
C |
6: 43,252,119 (GRCm39) |
S957P |
probably benign |
Het |
| Arsk |
G |
T |
13: 76,239,861 (GRCm39) |
T114K |
probably damaging |
Het |
| Bpifb2 |
T |
C |
2: 153,733,876 (GRCm39) |
V406A |
probably damaging |
Het |
| Cbr3 |
C |
A |
16: 93,480,393 (GRCm39) |
Q61K |
probably benign |
Het |
| Ccdc73 |
C |
T |
2: 104,821,557 (GRCm39) |
S502L |
probably benign |
Het |
| Cdhr3 |
A |
T |
12: 33,098,931 (GRCm39) |
|
probably null |
Het |
| Cep170b |
T |
A |
12: 112,705,719 (GRCm39) |
M1159K |
possibly damaging |
Het |
| Cep295 |
A |
T |
9: 15,244,836 (GRCm39) |
S1159T |
|
Het |
| Cit |
C |
T |
5: 116,107,131 (GRCm39) |
R1088W |
probably damaging |
Het |
| Col16a1 |
A |
T |
4: 129,947,270 (GRCm39) |
H205L |
unknown |
Het |
| Cpt1c |
T |
G |
7: 44,609,077 (GRCm39) |
H748P |
probably damaging |
Het |
| Cstdc4 |
T |
G |
16: 36,006,772 (GRCm39) |
Y35* |
probably null |
Het |
| Dcaf8 |
A |
T |
1: 172,013,886 (GRCm39) |
D359V |
probably benign |
Het |
| Dcstamp |
A |
G |
15: 39,618,422 (GRCm39) |
Y277C |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,832,790 (GRCm39) |
K898R |
probably benign |
Het |
| Dnah6 |
T |
A |
6: 73,037,208 (GRCm39) |
T3345S |
probably benign |
Het |
| Dpp6 |
A |
T |
5: 27,803,815 (GRCm39) |
N254Y |
probably damaging |
Het |
| F2 |
A |
T |
2: 91,460,618 (GRCm39) |
|
probably null |
Het |
| Fam216b |
G |
C |
14: 78,322,504 (GRCm39) |
H67D |
possibly damaging |
Het |
| Fbxl17 |
A |
C |
17: 63,794,967 (GRCm39) |
|
probably null |
Het |
| Gas2 |
T |
A |
7: 51,547,026 (GRCm39) |
M59K |
probably damaging |
Het |
| Glud1 |
G |
A |
14: 34,065,664 (GRCm39) |
G554D |
probably damaging |
Het |
| Gys2 |
C |
T |
6: 142,402,138 (GRCm39) |
G234R |
probably damaging |
Het |
| Ifngr1 |
A |
G |
10: 19,485,241 (GRCm39) |
I413M |
probably benign |
Het |
| Inpp5a |
C |
T |
7: 139,118,153 (GRCm39) |
R236C |
probably damaging |
Het |
| Kcnip3 |
A |
G |
2: 127,323,934 (GRCm39) |
S32P |
probably benign |
Het |
| Lingo3 |
T |
A |
10: 80,670,464 (GRCm39) |
T489S |
possibly damaging |
Het |
| Lrpprc |
A |
G |
17: 85,079,575 (GRCm39) |
L227P |
probably damaging |
Het |
| Morn1 |
A |
G |
4: 155,213,160 (GRCm39) |
Q356R |
probably benign |
Het |
| Naxd |
A |
C |
8: 11,561,987 (GRCm39) |
K275Q |
probably benign |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Nck1 |
A |
T |
9: 100,379,790 (GRCm39) |
W154R |
probably damaging |
Het |
| Or10d5 |
G |
A |
9: 39,861,708 (GRCm39) |
R120C |
probably benign |
Het |
| Or1ad8 |
T |
A |
11: 50,898,437 (GRCm39) |
C213S |
probably damaging |
Het |
| Or5aq6 |
C |
T |
2: 86,923,220 (GRCm39) |
V174M |
possibly damaging |
Het |
| Or7e175 |
T |
C |
9: 20,048,571 (GRCm39) |
V53A |
possibly damaging |
Het |
| Pdxk |
C |
T |
10: 78,289,338 (GRCm39) |
V38M |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Pes1 |
T |
C |
11: 3,927,718 (GRCm39) |
S482P |
probably benign |
Het |
| Pglyrp1 |
T |
A |
7: 18,618,657 (GRCm39) |
F3I |
unknown |
Het |
| Pira13 |
T |
C |
7: 3,824,260 (GRCm39) |
K631R |
unknown |
Het |
| Plce1 |
T |
A |
19: 38,761,423 (GRCm39) |
F2092I |
possibly damaging |
Het |
| Pms1 |
A |
G |
1: 53,246,505 (GRCm39) |
S345P |
probably benign |
Het |
| Pom121l12 |
C |
A |
11: 14,550,011 (GRCm39) |
P239H |
probably damaging |
Het |
| Prdm2 |
A |
G |
4: 142,859,018 (GRCm39) |
I1424T |
probably benign |
Het |
| Prmt6 |
A |
G |
3: 110,158,140 (GRCm39) |
Y50H |
probably damaging |
Het |
| Rbm39 |
T |
C |
2: 155,996,195 (GRCm39) |
I397V |
probably benign |
Het |
| Rnf157 |
A |
G |
11: 116,238,307 (GRCm39) |
V519A |
possibly damaging |
Het |
| Sec23a |
T |
C |
12: 59,053,980 (GRCm39) |
E6G |
possibly damaging |
Het |
| Shank1 |
T |
C |
7: 43,962,748 (GRCm39) |
|
probably null |
Het |
| Slfn3 |
A |
G |
11: 83,105,505 (GRCm39) |
I378V |
probably benign |
Het |
| Smn1 |
T |
A |
13: 100,267,303 (GRCm39) |
|
probably null |
Het |
| Snd1 |
T |
C |
6: 28,874,975 (GRCm39) |
F632S |
possibly damaging |
Het |
| Sun5 |
T |
C |
2: 153,698,131 (GRCm39) |
|
probably null |
Het |
| Tial1 |
T |
C |
7: 128,046,614 (GRCm39) |
R209G |
probably benign |
Het |
| Tssc4 |
G |
T |
7: 142,623,932 (GRCm39) |
R80L |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,642,852 (GRCm39) |
N13261K |
probably damaging |
Het |
| Ugdh |
A |
T |
5: 65,581,005 (GRCm39) |
|
probably null |
Het |
| Vmn1r218 |
A |
T |
13: 23,321,472 (GRCm39) |
E273V |
probably benign |
Het |
| Vmn2r92 |
T |
A |
17: 18,386,988 (GRCm39) |
F109Y |
possibly damaging |
Het |
| Zcchc7 |
A |
G |
4: 44,931,398 (GRCm39) |
S196G |
probably benign |
Het |
| Zfp788 |
T |
A |
7: 41,298,335 (GRCm39) |
C324S |
probably damaging |
Het |
| Zfp976 |
T |
C |
7: 42,262,959 (GRCm39) |
T294A |
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 |
|
|
R7842:Trhde
|
UTSW |
10 |
114,532,003 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
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'- CTCTGCAGGTAATGGGTTAAGG -3'
(R):5'- TCTCGCTCCTGAAAAGCCTAAC -3'
Sequencing Primer
(F):5'- TGAGTATGTGCAAAAATGTGTGAATG -3'
(R):5'- TGAAAAGCCTAACCAGCACTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation