Incidental Mutation 'IGL02157:Trh'
| ID |
282263 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trh
|
| Ensembl Gene |
ENSMUSG00000005892 |
| Gene Name |
thyrotropin releasing hormone |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02157
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
92219042-92221631 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 92219948 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 123
(S123T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006046
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006046]
|
| AlphaFold |
Q62361 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006046
AA Change: S123T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000006046
Gene: ENSMUSG00000005892
AA Change: S123T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TRH
|
6 |
125 |
5.4e-16 |
PFAM |
|
Pfam:TRH
|
140 |
224 |
2.2e-20 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the thyrotropin-releasing hormone family. Cleavage of the encoded proprotein releases mature thyrotropin-releasing hormone, which is a tripeptide hypothalamic regulatory hormone. The mouse proprotein contains five thyrotropin-releasing hormone tripeptides. Thyrotropin-releasing hormone is involved in the regulation and release of thyroid-stimulating hormone, as well as prolactin. Disruption of this gene results in hypothyroidism, elevated thyroid-stimulating hormone levels, and hyperglycemia. [provided by RefSeq, Apr 2013]
PHENOTYPE: Homozygotes for targeted null mutations exhibit high postnatal mortality, impaired thermoregulation, and loss of white fat. Survivors show ketosis, microvesicular fat accumulation, elevated serum lipids, and behavioral abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
C |
5: 8,855,487 (GRCm39) |
|
probably benign |
Het |
| Amotl1 |
A |
T |
9: 14,483,011 (GRCm39) |
|
probably benign |
Het |
| Amph |
A |
T |
13: 19,288,401 (GRCm39) |
T297S |
possibly damaging |
Het |
| Arhgap31 |
A |
G |
16: 38,444,263 (GRCm39) |
V198A |
probably damaging |
Het |
| Bop1 |
T |
C |
15: 76,339,772 (GRCm39) |
D216G |
possibly damaging |
Het |
| Cdh13 |
T |
C |
8: 119,232,410 (GRCm39) |
I38T |
possibly damaging |
Het |
| Clmn |
T |
C |
12: 104,748,177 (GRCm39) |
T457A |
probably benign |
Het |
| Clstn2 |
A |
C |
9: 97,423,928 (GRCm39) |
M279R |
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Fam83h |
A |
T |
15: 75,876,904 (GRCm39) |
V208E |
probably damaging |
Het |
| Fer |
A |
G |
17: 64,445,894 (GRCm39) |
N785S |
probably benign |
Het |
| Fnip1 |
T |
C |
11: 54,378,589 (GRCm39) |
L225P |
probably damaging |
Het |
| Gbp11 |
C |
T |
5: 105,475,374 (GRCm39) |
V325M |
possibly damaging |
Het |
| Glis1 |
A |
G |
4: 107,484,758 (GRCm39) |
T418A |
probably benign |
Het |
| Hook2 |
C |
T |
8: 85,727,779 (GRCm39) |
|
probably benign |
Het |
| Hoxa6 |
C |
A |
6: 52,185,171 (GRCm39) |
C145F |
possibly damaging |
Het |
| Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
| Mbd5 |
T |
C |
2: 49,168,987 (GRCm39) |
V1156A |
probably benign |
Het |
| Mon2 |
G |
A |
10: 122,849,377 (GRCm39) |
P1308S |
probably damaging |
Het |
| Mta2 |
T |
A |
19: 8,924,613 (GRCm39) |
|
probably benign |
Het |
| Nup188 |
T |
A |
2: 30,219,385 (GRCm39) |
L867* |
probably null |
Het |
| Oca2 |
G |
A |
7: 55,974,545 (GRCm39) |
|
probably null |
Het |
| Or13a22 |
T |
A |
7: 140,072,847 (GRCm39) |
C99S |
probably damaging |
Het |
| Or6c88 |
A |
G |
10: 129,407,019 (GRCm39) |
E165G |
probably damaging |
Het |
| Or7e166 |
T |
A |
9: 19,624,585 (GRCm39) |
V154E |
probably benign |
Het |
| Plekhh2 |
A |
G |
17: 84,874,370 (GRCm39) |
|
probably benign |
Het |
| Pramel22 |
A |
T |
4: 143,380,947 (GRCm39) |
C359S |
probably damaging |
Het |
| Rhbdd3 |
T |
C |
11: 5,055,424 (GRCm39) |
|
probably benign |
Het |
| Timeless |
T |
A |
10: 128,078,255 (GRCm39) |
V255E |
probably benign |
Het |
| Tmt1b |
T |
G |
10: 128,796,486 (GRCm39) |
T108P |
possibly damaging |
Het |
| Ugdh |
C |
T |
5: 65,580,035 (GRCm39) |
A252T |
probably damaging |
Het |
| Zfp619 |
A |
G |
7: 39,184,288 (GRCm39) |
Y106C |
probably damaging |
Het |
| Zic5 |
G |
A |
14: 122,696,924 (GRCm39) |
P564S |
unknown |
Het |
|
| Other mutations in Trh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00592:Trh
|
APN |
6 |
92,219,723 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL00835:Trh
|
APN |
6 |
92,219,770 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL01978:Trh
|
APN |
6 |
92,219,596 (GRCm39) |
missense |
probably benign |
|
|
IGL02997:Trh
|
APN |
6 |
92,220,115 (GRCm39) |
splice site |
probably benign |
|
|
IGL03039:Trh
|
APN |
6 |
92,220,709 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03132:Trh
|
APN |
6 |
92,220,755 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02991:Trh
|
UTSW |
6 |
92,220,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0464:Trh
|
UTSW |
6 |
92,220,649 (GRCm39) |
splice site |
probably null |
|
|
R3079:Trh
|
UTSW |
6 |
92,219,551 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3874:Trh
|
UTSW |
6 |
92,220,679 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R3875:Trh
|
UTSW |
6 |
92,220,679 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5357:Trh
|
UTSW |
6 |
92,219,815 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6463:Trh
|
UTSW |
6 |
92,219,824 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8245:Trh
|
UTSW |
6 |
92,220,050 (GRCm39) |
missense |
probably benign |
|
|
R9191:Trh
|
UTSW |
6 |
92,219,602 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9341:Trh
|
UTSW |
6 |
92,220,823 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9343:Trh
|
UTSW |
6 |
92,220,823 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9441:Trh
|
UTSW |
6 |
92,219,939 (GRCm39) |
missense |
probably benign |
|
|
R9613:Trh
|
UTSW |
6 |
92,219,840 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation