Incidental Mutation 'IGL00592:Trh'
| ID |
14564 |
| 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 # |
IGL00592
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
92219042-92221631 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 92219723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 198
(M198V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006046
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006046]
|
| AlphaFold |
Q62361 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000006046
AA Change: M198V
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000006046
Gene: ENSMUSG00000005892
AA Change: M198V
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh4 |
A |
G |
3: 138,126,397 (GRCm39) |
I91V |
probably damaging |
Het |
| Ak6 |
T |
C |
13: 100,800,599 (GRCm39) |
V74A |
probably benign |
Het |
| Antxr1 |
C |
A |
6: 87,265,784 (GRCm39) |
V110F |
probably damaging |
Het |
| Anxa1 |
T |
C |
19: 20,355,033 (GRCm39) |
D247G |
probably benign |
Het |
| Dgkg |
T |
C |
16: 22,298,112 (GRCm39) |
|
probably benign |
Het |
| Eva1b |
T |
C |
4: 126,043,443 (GRCm39) |
M161T |
probably benign |
Het |
| Fbxw22 |
C |
A |
9: 109,213,108 (GRCm39) |
V280F |
possibly damaging |
Het |
| Klhl9 |
A |
G |
4: 88,639,378 (GRCm39) |
S288P |
probably damaging |
Het |
| Masp2 |
C |
T |
4: 148,687,186 (GRCm39) |
P23S |
probably benign |
Het |
| Ncam1 |
T |
A |
9: 49,434,865 (GRCm39) |
D600V |
probably damaging |
Het |
| Pcnx4 |
A |
G |
12: 72,626,139 (GRCm39) |
N1115S |
probably damaging |
Het |
| Pdia2 |
A |
G |
17: 26,417,090 (GRCm39) |
V109A |
probably damaging |
Het |
| Pla1a |
G |
T |
16: 38,235,212 (GRCm39) |
H161N |
probably damaging |
Het |
| Prokr2 |
A |
T |
2: 132,223,424 (GRCm39) |
D39E |
probably benign |
Het |
| Sall4 |
T |
C |
2: 168,597,883 (GRCm39) |
D319G |
probably damaging |
Het |
| Sgms2 |
A |
G |
3: 131,135,482 (GRCm39) |
S131P |
possibly damaging |
Het |
| Slc22a2 |
A |
T |
17: 12,827,305 (GRCm39) |
Q319L |
possibly damaging |
Het |
| Slc27a5 |
A |
G |
7: 12,722,566 (GRCm39) |
I636T |
probably benign |
Het |
| Tas2r131 |
T |
G |
6: 132,934,159 (GRCm39) |
T217P |
probably damaging |
Het |
| Ube2b |
A |
C |
11: 51,877,546 (GRCm39) |
V141G |
probably damaging |
Het |
| Ube2l6 |
T |
A |
2: 84,639,373 (GRCm39) |
V112E |
probably damaging |
Het |
| Vmn1r79 |
T |
C |
7: 11,910,934 (GRCm39) |
I272T |
probably benign |
Het |
| Xylb |
C |
T |
9: 119,219,549 (GRCm39) |
Q513* |
probably null |
Het |
| Zbtb4 |
T |
A |
11: 69,667,557 (GRCm39) |
C287* |
probably null |
Het |
|
| Other mutations in Trh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00835:Trh
|
APN |
6 |
92,219,770 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL01978:Trh
|
APN |
6 |
92,219,596 (GRCm39) |
missense |
probably benign |
|
|
IGL02157:Trh
|
APN |
6 |
92,219,948 (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 |
2012-12-06 |
Incidental Mutation