Incidental Mutation 'IGL03132:Trh'
ID |
410370 |
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 # |
IGL03132
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
92219042-92221631 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 92220755 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 36
(T36A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000006046
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006046]
|
AlphaFold |
Q62361 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000006046
AA Change: T36A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000006046 Gene: ENSMUSG00000005892 AA Change: T36A
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb1 |
G |
A |
6: 88,815,941 (GRCm39) |
R177C |
probably benign |
Het |
Adam21 |
C |
A |
12: 81,607,148 (GRCm39) |
G205* |
probably null |
Het |
Baz2b |
T |
A |
2: 59,738,097 (GRCm39) |
|
probably benign |
Het |
Col6a3 |
C |
T |
1: 90,731,615 (GRCm39) |
G939D |
probably damaging |
Het |
Csf1r |
A |
G |
18: 61,261,171 (GRCm39) |
E749G |
probably benign |
Het |
Dnm3 |
C |
T |
1: 161,838,674 (GRCm39) |
|
probably null |
Het |
Dsg3 |
A |
G |
18: 20,657,653 (GRCm39) |
D241G |
probably damaging |
Het |
Dst |
T |
C |
1: 34,295,722 (GRCm39) |
S6015P |
probably benign |
Het |
Dvl2 |
T |
C |
11: 69,896,514 (GRCm39) |
S183P |
probably benign |
Het |
Exoc6b |
T |
C |
6: 84,768,246 (GRCm39) |
N699S |
possibly damaging |
Het |
Fat2 |
T |
C |
11: 55,144,746 (GRCm39) |
R4043G |
probably benign |
Het |
Gbp9 |
T |
A |
5: 105,232,819 (GRCm39) |
T278S |
possibly damaging |
Het |
Gm2a |
T |
A |
11: 54,994,474 (GRCm39) |
I48N |
probably damaging |
Het |
Gorasp2 |
T |
C |
2: 70,514,379 (GRCm39) |
V232A |
probably benign |
Het |
Gpa33 |
G |
A |
1: 165,980,218 (GRCm39) |
D94N |
probably benign |
Het |
Il1rap |
A |
T |
16: 26,498,869 (GRCm39) |
S123C |
probably damaging |
Het |
Kctd17 |
T |
C |
15: 78,319,887 (GRCm39) |
S102P |
probably damaging |
Het |
Lamb1 |
A |
G |
12: 31,350,333 (GRCm39) |
|
probably null |
Het |
Mfsd1 |
T |
A |
3: 67,495,273 (GRCm39) |
I131K |
possibly damaging |
Het |
Pkhd1l1 |
G |
A |
15: 44,438,013 (GRCm39) |
C3576Y |
probably damaging |
Het |
Pla2g4a |
A |
T |
1: 149,778,035 (GRCm39) |
|
probably benign |
Het |
Ptpn11 |
T |
A |
5: 121,272,878 (GRCm39) |
D575V |
possibly damaging |
Het |
Reck |
A |
T |
4: 43,938,898 (GRCm39) |
R755* |
probably null |
Het |
Scgb2b21 |
A |
G |
7: 33,219,299 (GRCm39) |
V35A |
possibly damaging |
Het |
Srpra |
G |
A |
9: 35,125,574 (GRCm39) |
|
probably null |
Het |
Stk11ip |
T |
C |
1: 75,512,733 (GRCm39) |
S1025P |
probably benign |
Het |
Tmprss9 |
G |
A |
10: 80,730,699 (GRCm39) |
V742M |
probably damaging |
Het |
Trim35 |
A |
G |
14: 66,546,595 (GRCm39) |
E454G |
probably damaging |
Het |
Vmn2r99 |
C |
T |
17: 19,598,485 (GRCm39) |
Q170* |
probably null |
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 |
|
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 |
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 |
2016-08-02 |