Incidental Mutation 'R7207:Thra'
| ID |
560713 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.914)
|
| Stock # |
R7207 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
98631539-98659832 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 98651802 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 108
(Q108R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068281
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064187]
[ENSMUST00000103139]
[ENSMUST00000124072]
[ENSMUST00000153043]
|
| AlphaFold |
P63058 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064187
AA Change: Q108R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000068281
Gene: ENSMUSG00000058756
AA Change: Q108R
| 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: Q108R
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099428
Gene: ENSMUSG00000058756
AA Change: Q108R
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
50 |
123 |
3.09e-36 |
SMART |
|
HOLI
|
220 |
378 |
7.26e-33 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124072
AA Change: Q108R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000115323
Gene: ENSMUSG00000058756
AA Change: Q108R
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
50 |
123 |
3.09e-36 |
SMART |
|
HOLI
|
220 |
378 |
2.36e-32 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153043
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
G |
6: 128,527,734 (GRCm39) |
Y1019H |
probably benign |
Het |
| Adam11 |
C |
A |
11: 102,662,883 (GRCm39) |
A212D |
probably benign |
Het |
| Adamts13 |
C |
A |
2: 26,868,707 (GRCm39) |
H230Q |
probably damaging |
Het |
| Adgrl3 |
G |
A |
5: 81,457,874 (GRCm39) |
M1I |
probably null |
Het |
| Agap1 |
A |
T |
1: 89,770,821 (GRCm39) |
H657L |
possibly damaging |
Het |
| Ano3 |
T |
C |
2: 110,611,768 (GRCm39) |
D238G |
probably damaging |
Het |
| Atp8b5 |
A |
T |
4: 43,357,018 (GRCm39) |
I589F |
probably damaging |
Het |
| Bmp1 |
C |
T |
14: 70,717,000 (GRCm39) |
A859T |
possibly damaging |
Het |
| Cdh20 |
C |
A |
1: 104,921,702 (GRCm39) |
D666E |
probably damaging |
Het |
| Cep135 |
T |
G |
5: 76,780,090 (GRCm39) |
D807E |
probably benign |
Het |
| Cldn13 |
G |
A |
5: 134,943,766 (GRCm39) |
H140Y |
probably benign |
Het |
| Cnksr1 |
G |
T |
4: 133,962,434 (GRCm39) |
Q155K |
possibly damaging |
Het |
| Col1a1 |
G |
A |
11: 94,829,352 (GRCm39) |
R121Q |
unknown |
Het |
| Coro6 |
G |
A |
11: 77,358,089 (GRCm39) |
A225T |
possibly damaging |
Het |
| Ctse |
C |
A |
1: 131,592,112 (GRCm39) |
T146K |
possibly damaging |
Het |
| Dhrs7b |
C |
A |
11: 60,746,623 (GRCm39) |
Y237* |
probably null |
Het |
| Dnah3 |
A |
G |
7: 119,570,312 (GRCm39) |
F2303L |
probably damaging |
Het |
| Dsg2 |
T |
A |
18: 20,734,516 (GRCm39) |
D831E |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,202,418 (GRCm39) |
S575P |
probably damaging |
Het |
| Epg5 |
T |
C |
18: 77,992,170 (GRCm39) |
L289P |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,714,387 (GRCm39) |
N162S |
probably damaging |
Het |
| Fbf1 |
A |
T |
11: 116,040,300 (GRCm39) |
Y602N |
probably benign |
Het |
| Fgd4 |
A |
T |
16: 16,302,420 (GRCm39) |
M45K |
probably benign |
Het |
| Fryl |
C |
T |
5: 73,222,438 (GRCm39) |
V2048I |
probably benign |
Het |
| Gulp1 |
T |
C |
1: 44,805,292 (GRCm39) |
V127A |
possibly damaging |
Het |
| H2-DMb1 |
T |
A |
17: 34,376,490 (GRCm39) |
I203N |
probably damaging |
Het |
| Harbi1 |
T |
C |
2: 91,542,790 (GRCm39) |
S84P |
probably damaging |
Het |
| Hrh2 |
T |
C |
13: 54,368,266 (GRCm39) |
S81P |
possibly damaging |
Het |
| Iars1 |
T |
C |
13: 49,841,791 (GRCm39) |
|
probably null |
Het |
| Kcnma1 |
T |
C |
14: 23,359,083 (GRCm39) |
*1087W |
probably null |
Het |
| Lama5 |
T |
A |
2: 179,848,877 (GRCm39) |
N241I |
probably damaging |
Het |
| Lig4 |
T |
A |
8: 10,022,101 (GRCm39) |
K560* |
probably null |
Het |
| Lpin3 |
G |
T |
2: 160,735,923 (GRCm39) |
E68* |
probably null |
Het |
| Mrtfb |
A |
T |
16: 13,144,300 (GRCm39) |
I7L |
probably benign |
Het |
| Msrb3 |
A |
T |
10: 120,627,305 (GRCm39) |
|
probably null |
Het |
| Muc5b |
A |
G |
7: 141,416,602 (GRCm39) |
T3183A |
probably benign |
Het |
| Mx1 |
T |
A |
16: 97,253,398 (GRCm39) |
D342V |
probably benign |
Het |
| Nrap |
G |
T |
19: 56,333,953 (GRCm39) |
T1003K |
probably damaging |
Het |
| Or8u10 |
A |
G |
2: 85,915,159 (GRCm39) |
S321P |
possibly damaging |
Het |
| Plxna2 |
C |
T |
1: 194,326,327 (GRCm39) |
P87L |
probably damaging |
Het |
| Pms2 |
C |
T |
5: 143,850,452 (GRCm39) |
T89I |
probably damaging |
Het |
| Ppp1r12c |
C |
A |
7: 4,492,867 (GRCm39) |
R203L |
probably damaging |
Het |
| Pramel31 |
A |
G |
4: 144,088,473 (GRCm39) |
T90A |
probably benign |
Het |
| Rab44 |
C |
T |
17: 29,357,013 (GRCm39) |
Q48* |
probably null |
Het |
| Rgs14 |
T |
C |
13: 55,531,047 (GRCm39) |
V417A |
probably benign |
Het |
| Sgms1 |
T |
A |
19: 32,120,147 (GRCm39) |
K253M |
probably null |
Het |
| Sidt2 |
T |
C |
9: 45,856,449 (GRCm39) |
Y492C |
probably damaging |
Het |
| Slco1a5 |
G |
T |
6: 142,194,475 (GRCm39) |
Y389* |
probably null |
Het |
| Slfn14 |
G |
A |
11: 83,170,214 (GRCm39) |
Q477* |
probably null |
Het |
| Sorbs3 |
T |
C |
14: 70,438,934 (GRCm39) |
K142R |
probably damaging |
Het |
| Sphk1 |
A |
T |
11: 116,426,590 (GRCm39) |
D182V |
probably damaging |
Het |
| Srsf9 |
C |
G |
5: 115,465,481 (GRCm39) |
Y38* |
probably null |
Het |
| Stk40 |
A |
C |
4: 126,019,547 (GRCm39) |
E107A |
probably damaging |
Het |
| Syngr4 |
T |
C |
7: 45,538,101 (GRCm39) |
Y89C |
possibly damaging |
Het |
| Tead1 |
G |
A |
7: 112,441,287 (GRCm39) |
R109H |
possibly damaging |
Het |
| Tnni3k |
G |
A |
3: 154,580,782 (GRCm39) |
T621I |
probably damaging |
Het |
| Trim3 |
A |
C |
7: 105,262,583 (GRCm39) |
V525G |
possibly damaging |
Het |
| Usp49 |
T |
C |
17: 47,989,802 (GRCm39) |
V529A |
probably benign |
Het |
| Vill |
A |
T |
9: 118,900,281 (GRCm39) |
Q849L |
possibly damaging |
Het |
| Vps36 |
T |
A |
8: 22,701,623 (GRCm39) |
S237T |
probably benign |
Het |
| Zar1l |
A |
T |
5: 150,430,558 (GRCm39) |
C284* |
probably null |
Het |
| Zfp948 |
T |
C |
17: 21,808,602 (GRCm39) |
V598A |
possibly damaging |
Het |
| Zfp952 |
T |
C |
17: 33,222,489 (GRCm39) |
Y323H |
possibly damaging |
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 |
|
R0959:Thra
|
UTSW |
11 |
98,644,455 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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 |
|
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'- TCACCTGTGTAGTTGGCTCAGG -3'
(R):5'- AGTCTTCAAACGGCAAGAAGC -3'
Sequencing Primer
(F):5'- CTCAGGAGAGGAAGCCTTACTG -3'
(R):5'- GCTTAGCAGTTAAGAGCACCATCTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation