Incidental Mutation 'R0959:Thra'
| ID |
81786 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Thra
|
| Ensembl Gene |
ENSMUSG00000058756 |
| Gene Name |
thyroid hormone receptor alpha |
| Synonyms |
Rvr, T3Ralpha, Nr1a1, Thra1, Erba, T3R[a], 6430529J03Rik, TR alpha 2, c-erbAalpha, Thra2, TR alpha 1 |
| MMRRC Submission |
039088-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.914)
|
| Stock # |
R0959 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
98631539-98659832 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 98644455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 15
(E15G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099428
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064187]
[ENSMUST00000103139]
[ENSMUST00000124072]
[ENSMUST00000153043]
|
| AlphaFold |
P63058 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064187
AA Change: E15G
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000068281
Gene: ENSMUSG00000058756
AA Change: E15G
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
50 |
123 |
3.09e-36 |
SMART |
|
HOLI
|
220 |
378 |
1.43e-31 |
SMART |
|
low complexity region
|
461 |
484 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103139
AA Change: E15G
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099428
Gene: ENSMUSG00000058756
AA Change: E15G
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
50 |
123 |
3.09e-36 |
SMART |
|
HOLI
|
220 |
378 |
7.26e-33 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000124072
AA Change: E15G
PolyPhen 2
Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000115323
Gene: ENSMUSG00000058756
AA Change: E15G
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
50 |
123 |
3.09e-36 |
SMART |
|
HOLI
|
220 |
378 |
2.36e-32 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124130
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142944
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150693
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152195
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000153043
AA Change: E15G
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153468
|
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.7%
- 10x: 95.8%
- 20x: 89.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is one of several nuclear hormone receptors that bind thyroid hormones such as triiodothyronine and thyroxine with high affinity. The encoded protein is a transcription factor that can activate or repress transcription. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mutations in this gene result in diverse phenotypes depending on the location and severity of the mutation. Observed phenotypes may include alterations in thyroid physiology, intestinal remodeling, cerebellum development, bone growth, cardiac function, thermogenesis, and fertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl11 |
T |
C |
9: 107,808,434 (GRCm39) |
V919A |
probably damaging |
Het |
| Adam28 |
G |
A |
14: 68,845,387 (GRCm39) |
P761L |
possibly damaging |
Het |
| Aoc1l3 |
T |
A |
6: 48,965,566 (GRCm39) |
C525S |
possibly damaging |
Het |
| Aplf |
G |
A |
6: 87,623,065 (GRCm39) |
P338L |
probably benign |
Het |
| Arl5b |
T |
A |
2: 15,077,942 (GRCm39) |
I89N |
probably damaging |
Het |
| Asap2 |
T |
C |
12: 21,297,320 (GRCm39) |
V596A |
probably damaging |
Het |
| Baz1b |
T |
G |
5: 135,273,076 (GRCm39) |
F1400C |
probably damaging |
Het |
| Ccdc149 |
A |
T |
5: 52,542,497 (GRCm39) |
L365Q |
probably damaging |
Het |
| Ccdc60 |
A |
G |
5: 116,318,870 (GRCm39) |
S149P |
probably damaging |
Het |
| Ces1b |
A |
G |
8: 93,794,775 (GRCm39) |
C275R |
probably damaging |
Het |
| Creb3 |
T |
C |
4: 43,563,509 (GRCm39) |
L163P |
probably damaging |
Het |
| Dhx37 |
T |
G |
5: 125,500,496 (GRCm39) |
N570T |
probably benign |
Het |
| Epc1 |
T |
C |
18: 6,453,657 (GRCm39) |
N223D |
probably damaging |
Het |
| Gbp5 |
C |
T |
3: 142,208,885 (GRCm39) |
H143Y |
possibly damaging |
Het |
| Gfod1 |
A |
T |
13: 43,456,905 (GRCm39) |
D23E |
probably benign |
Het |
| Gm7361 |
A |
T |
5: 26,467,051 (GRCm39) |
E223D |
possibly damaging |
Het |
| Izumo1 |
A |
G |
7: 45,274,415 (GRCm39) |
K161E |
probably damaging |
Het |
| Kcnh2 |
C |
T |
5: 24,527,670 (GRCm39) |
R894H |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,158,366 (GRCm39) |
N1617S |
possibly damaging |
Het |
| Med13l |
A |
T |
5: 118,892,350 (GRCm39) |
E1924D |
possibly damaging |
Het |
| Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
| Mtg2 |
T |
G |
2: 179,725,221 (GRCm39) |
S145A |
probably benign |
Het |
| Mug2 |
G |
A |
6: 122,062,454 (GRCm39) |
S1442N |
probably benign |
Het |
| Myo1b |
A |
T |
1: 51,836,246 (GRCm39) |
I315N |
probably damaging |
Het |
| Naip2 |
G |
A |
13: 100,291,386 (GRCm39) |
T1184M |
probably benign |
Het |
| Naip2 |
T |
A |
13: 100,291,419 (GRCm39) |
H1173L |
probably benign |
Het |
| Nsrp1 |
G |
A |
11: 76,937,285 (GRCm39) |
R304* |
probably null |
Het |
| Or2a56 |
G |
T |
6: 42,932,686 (GRCm39) |
V85L |
probably benign |
Het |
| Oxtr |
C |
T |
6: 112,454,138 (GRCm39) |
R42Q |
probably benign |
Het |
| Parp4 |
T |
C |
14: 56,885,576 (GRCm39) |
F1552L |
unknown |
Het |
| Pigw |
G |
A |
11: 84,769,033 (GRCm39) |
H99Y |
probably benign |
Het |
| Ppp6r2 |
G |
A |
15: 89,158,379 (GRCm39) |
M444I |
possibly damaging |
Het |
| Rchy1 |
A |
G |
5: 92,105,476 (GRCm39) |
F82L |
probably damaging |
Het |
| Reln |
A |
C |
5: 22,432,626 (GRCm39) |
F125V |
probably damaging |
Het |
| Riok1 |
G |
A |
13: 38,241,149 (GRCm39) |
E435K |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,343,407 (GRCm39) |
R3590G |
probably damaging |
Het |
| Scart2 |
A |
G |
7: 139,874,704 (GRCm39) |
E394G |
probably damaging |
Het |
| Scrib |
G |
C |
15: 75,923,310 (GRCm39) |
P1249A |
probably benign |
Het |
| Shc4 |
C |
T |
2: 125,520,607 (GRCm39) |
|
probably null |
Het |
| Slc12a2 |
T |
A |
18: 58,037,450 (GRCm39) |
I520N |
probably damaging |
Het |
| Slc26a5 |
A |
G |
5: 22,021,959 (GRCm39) |
I484T |
probably benign |
Het |
| Slc39a11 |
G |
T |
11: 113,354,899 (GRCm39) |
T110K |
probably benign |
Het |
| Snd1 |
T |
A |
6: 28,884,970 (GRCm39) |
S774T |
probably benign |
Het |
| Spata31d1c |
C |
T |
13: 65,184,129 (GRCm39) |
P557L |
probably damaging |
Het |
| Tada1 |
A |
G |
1: 166,216,198 (GRCm39) |
D133G |
probably benign |
Het |
| Tg |
A |
T |
15: 66,579,859 (GRCm39) |
T1555S |
probably damaging |
Het |
| Timd5 |
A |
T |
11: 46,427,247 (GRCm39) |
R187* |
probably null |
Het |
| Ttn |
T |
A |
2: 76,625,440 (GRCm39) |
I15128F |
probably damaging |
Het |
| Ube2r2 |
A |
G |
4: 41,174,066 (GRCm39) |
Y68C |
probably damaging |
Het |
| Uncx |
A |
T |
5: 139,532,442 (GRCm39) |
N169I |
probably damaging |
Het |
| Vmn2r100 |
A |
G |
17: 19,743,786 (GRCm39) |
Y483C |
possibly damaging |
Het |
| Xkr4 |
T |
C |
1: 3,286,897 (GRCm39) |
D431G |
probably damaging |
Het |
| Xylb |
C |
A |
9: 119,209,091 (GRCm39) |
A311E |
possibly damaging |
Het |
| Zbtb39 |
C |
G |
10: 127,578,175 (GRCm39) |
Q250E |
probably benign |
Het |
| Zbtb39 |
C |
A |
10: 127,578,931 (GRCm39) |
H502N |
probably damaging |
Het |
| Zfp82 |
A |
G |
7: 29,755,876 (GRCm39) |
L402P |
probably damaging |
Het |
| Zpbp2 |
G |
A |
11: 98,448,451 (GRCm39) |
R256Q |
probably benign |
Het |
|
| Other mutations in Thra |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01021:Thra
|
APN |
11 |
98,653,754 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01544:Thra
|
APN |
11 |
98,647,754 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02377:Thra
|
APN |
11 |
98,652,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02738:Thra
|
APN |
11 |
98,655,185 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL03111:Thra
|
APN |
11 |
98,651,855 (GRCm39) |
unclassified |
probably benign |
|
|
California
|
UTSW |
11 |
98,655,134 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Crissal
|
UTSW |
11 |
98,653,777 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0033_Thra_272
|
UTSW |
11 |
98,655,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0033:Thra
|
UTSW |
11 |
98,655,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0033:Thra
|
UTSW |
11 |
98,655,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1659:Thra
|
UTSW |
11 |
98,647,805 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1839:Thra
|
UTSW |
11 |
98,646,969 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1859:Thra
|
UTSW |
11 |
98,646,977 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1935:Thra
|
UTSW |
11 |
98,653,899 (GRCm39) |
splice site |
probably benign |
|
|
R1956:Thra
|
UTSW |
11 |
98,654,567 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4584:Thra
|
UTSW |
11 |
98,655,310 (GRCm39) |
missense |
probably benign |
0.42 |
|
R4782:Thra
|
UTSW |
11 |
98,646,990 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5414:Thra
|
UTSW |
11 |
98,651,783 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5790:Thra
|
UTSW |
11 |
98,653,777 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5927:Thra
|
UTSW |
11 |
98,654,514 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7207:Thra
|
UTSW |
11 |
98,651,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7234:Thra
|
UTSW |
11 |
98,654,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7307:Thra
|
UTSW |
11 |
98,655,134 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7825:Thra
|
UTSW |
11 |
98,653,774 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7875:Thra
|
UTSW |
11 |
98,659,257 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8385:Thra
|
UTSW |
11 |
98,659,177 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8669:Thra
|
UTSW |
11 |
98,654,476 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8955:Thra
|
UTSW |
11 |
98,644,449 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9549:Thra
|
UTSW |
11 |
98,653,772 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9615:Thra
|
UTSW |
11 |
98,651,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Thra
|
UTSW |
11 |
98,644,307 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCAGTACCTTTGACCAGCTTGC -3'
(R):5'- CATCCCAATCTAAGTGCCCGATTCC -3'
Sequencing Primer
(F):5'- CTCCCATTTTTTTGGGGAGCAG -3'
(R):5'- ATCTAAGTGCCCGATTCCCTAAG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation