Incidental Mutation 'R6467:Trhde'
| ID |
516658 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trhde
|
| Ensembl Gene |
ENSMUSG00000050663 |
| Gene Name |
TRH-degrading enzyme |
| Synonyms |
9330155P21Rik |
| MMRRC Submission |
044600-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R6467 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
114234725-114638207 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 114340103 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 567
(D567E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061632]
|
| AlphaFold |
Q8K093 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061632
AA Change: D567E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000057449
Gene: ENSMUSG00000050663
AA Change: D567E
| 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 |
0.3352 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
| Validation Efficiency |
99% (72/73) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1b |
T |
C |
15: 101,092,722 (GRCm39) |
W122R |
possibly damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,592,657 (GRCm39) |
R4294H |
probably benign |
Het |
| Afdn |
A |
G |
17: 14,024,315 (GRCm39) |
T74A |
probably damaging |
Het |
| Aff3 |
T |
A |
1: 38,247,098 (GRCm39) |
D829V |
probably benign |
Het |
| Akr1c12 |
T |
C |
13: 4,325,772 (GRCm39) |
Q107R |
probably benign |
Het |
| Apc |
T |
A |
18: 34,402,252 (GRCm39) |
F131I |
probably benign |
Het |
| Atosb |
A |
T |
4: 43,033,687 (GRCm39) |
F489I |
probably damaging |
Het |
| Atp13a1 |
T |
A |
8: 70,259,424 (GRCm39) |
L1036H |
probably damaging |
Het |
| BC035044 |
A |
C |
6: 128,867,855 (GRCm39) |
|
probably benign |
Het |
| C1rl |
A |
G |
6: 124,485,535 (GRCm39) |
D302G |
probably benign |
Het |
| C2cd6 |
A |
C |
1: 59,117,093 (GRCm39) |
D133E |
probably benign |
Het |
| Cacna1c |
T |
A |
6: 118,629,671 (GRCm39) |
Y1061F |
probably damaging |
Het |
| Cav1 |
A |
G |
6: 17,308,034 (GRCm39) |
D62G |
probably damaging |
Het |
| Ccdc77 |
T |
C |
6: 120,327,242 (GRCm39) |
M68V |
probably damaging |
Het |
| Cd55 |
A |
T |
1: 130,375,348 (GRCm39) |
|
probably benign |
Het |
| Cdc27 |
C |
A |
11: 104,413,602 (GRCm39) |
A380S |
probably damaging |
Het |
| Cenpb |
A |
T |
2: 131,021,477 (GRCm39) |
I107K |
probably damaging |
Het |
| Cep135 |
T |
G |
5: 76,769,187 (GRCm39) |
H612Q |
possibly damaging |
Het |
| Chd1l |
A |
T |
3: 97,470,849 (GRCm39) |
N815K |
probably damaging |
Het |
| Cldn20 |
C |
T |
17: 3,582,992 (GRCm39) |
T55M |
possibly damaging |
Het |
| Depdc1a |
A |
T |
3: 159,221,679 (GRCm39) |
I208L |
probably benign |
Het |
| Dgkb |
C |
T |
12: 38,134,223 (GRCm39) |
A43V |
possibly damaging |
Het |
| Dgkb |
C |
T |
12: 38,654,104 (GRCm39) |
T741I |
probably damaging |
Het |
| Dhx16 |
A |
G |
17: 36,197,076 (GRCm39) |
N653S |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,438,329 (GRCm39) |
S3987T |
probably benign |
Het |
| Dnai4 |
T |
C |
4: 102,906,758 (GRCm39) |
D685G |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,334,277 (GRCm39) |
I4835N |
probably damaging |
Het |
| Esrrb |
A |
G |
12: 86,561,114 (GRCm39) |
I288V |
probably damaging |
Het |
| Fnta |
C |
T |
8: 26,497,341 (GRCm39) |
W169* |
probably null |
Het |
| Golga4 |
T |
C |
9: 118,365,860 (GRCm39) |
L304P |
probably damaging |
Het |
| Hace1 |
A |
G |
10: 45,466,362 (GRCm39) |
|
probably null |
Het |
| Ino80b |
G |
T |
6: 83,101,112 (GRCm39) |
|
probably null |
Het |
| Kcmf1 |
G |
A |
6: 72,820,082 (GRCm39) |
R306C |
probably damaging |
Het |
| Lrrc46 |
G |
A |
11: 96,927,305 (GRCm39) |
T92I |
possibly damaging |
Het |
| Man2b1 |
T |
C |
8: 85,824,076 (GRCm39) |
V991A |
possibly damaging |
Het |
| Mga |
A |
G |
2: 119,776,776 (GRCm39) |
N1770S |
probably damaging |
Het |
| Mgat4e |
T |
C |
1: 134,468,944 (GRCm39) |
T367A |
probably benign |
Het |
| Mtr |
A |
G |
13: 12,202,992 (GRCm39) |
S1204P |
probably damaging |
Het |
| Myo15a |
G |
A |
11: 60,417,487 (GRCm39) |
|
probably null |
Het |
| Nktr |
T |
C |
9: 121,560,585 (GRCm39) |
S74P |
probably damaging |
Het |
| Noct |
T |
C |
3: 51,157,508 (GRCm39) |
V282A |
possibly damaging |
Het |
| Nol11 |
A |
T |
11: 107,071,912 (GRCm39) |
I227K |
possibly damaging |
Het |
| Nsd3 |
T |
A |
8: 26,130,646 (GRCm39) |
S4T |
probably damaging |
Het |
| Or5m10b |
T |
A |
2: 85,699,714 (GRCm39) |
Y259* |
probably null |
Het |
| Or5p64 |
A |
G |
7: 107,855,109 (GRCm39) |
S79P |
probably damaging |
Het |
| Pds5a |
T |
A |
5: 65,809,782 (GRCm39) |
L393F |
probably damaging |
Het |
| Prex2 |
C |
T |
1: 11,336,259 (GRCm39) |
R1486C |
probably damaging |
Het |
| Rc3h2 |
T |
C |
2: 37,272,028 (GRCm39) |
T768A |
probably damaging |
Het |
| Rin3 |
A |
T |
12: 102,335,584 (GRCm39) |
E418D |
probably benign |
Het |
| Rnf214 |
G |
T |
9: 45,778,886 (GRCm39) |
T586N |
probably damaging |
Het |
| Samd4b |
A |
G |
7: 28,101,285 (GRCm39) |
S667P |
probably damaging |
Het |
| Sec14l2 |
T |
C |
11: 4,061,161 (GRCm39) |
Y100C |
probably damaging |
Het |
| Slc46a2 |
T |
C |
4: 59,914,077 (GRCm39) |
E282G |
probably benign |
Het |
| Themis |
A |
C |
10: 28,657,762 (GRCm39) |
N110T |
possibly damaging |
Het |
| Tln1 |
C |
A |
4: 43,543,165 (GRCm39) |
S1333I |
probably benign |
Het |
| Tmem53 |
T |
C |
4: 117,125,625 (GRCm39) |
V224A |
possibly damaging |
Het |
| Tmtc4 |
T |
A |
14: 123,163,391 (GRCm39) |
K664N |
possibly damaging |
Het |
| Tnni3k |
T |
C |
3: 154,674,922 (GRCm39) |
D201G |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,912,898 (GRCm39) |
E1681G |
probably damaging |
Het |
| Tsc2 |
T |
C |
17: 24,828,101 (GRCm39) |
M788V |
probably benign |
Het |
| Ube3a |
A |
G |
7: 58,926,650 (GRCm39) |
Y476C |
probably damaging |
Het |
| Ubiad1 |
T |
C |
4: 148,520,682 (GRCm39) |
N314S |
possibly damaging |
Het |
| Unc79 |
T |
A |
12: 103,139,771 (GRCm39) |
N2375K |
probably damaging |
Het |
| Vmn2r107 |
A |
T |
17: 20,595,939 (GRCm39) |
I831F |
probably damaging |
Het |
| Vwa3b |
T |
A |
1: 37,124,367 (GRCm39) |
C322S |
probably benign |
Het |
| Wnk1 |
A |
T |
6: 119,939,916 (GRCm39) |
H238Q |
probably benign |
Het |
| Wnk2 |
A |
G |
13: 49,300,081 (GRCm39) |
Y210H |
probably damaging |
Het |
| Wwc2 |
T |
C |
8: 48,304,943 (GRCm39) |
D894G |
unknown |
Het |
| Yes1 |
T |
A |
5: 32,810,381 (GRCm39) |
F180Y |
probably damaging |
Het |
| Yju2b |
T |
C |
8: 84,985,318 (GRCm39) |
E317G |
probably benign |
Het |
| Zbtb46 |
T |
C |
2: 181,033,062 (GRCm39) |
Y533C |
probably damaging |
Het |
| Zfp57 |
T |
C |
17: 37,316,942 (GRCm39) |
S7P |
possibly damaging |
Het |
| Zzef1 |
T |
C |
11: 72,802,090 (GRCm39) |
|
probably null |
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 |
|
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'- TATCACTCTCGAAAGTAGACAAGAA -3'
(R):5'- TTGGGTGAACTAGGAAATATGTTATCG -3'
Sequencing Primer
(F):5'- CGAAAGTAGACAAGAAATTTTTAGCC -3'
(R):5'- CCACACATGGAAATGGTTA -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation