Incidental Mutation 'R6105:Tgfb1i1'
ID |
485470 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tgfb1i1
|
Ensembl Gene |
ENSMUSG00000030782 |
Gene Name |
transforming growth factor beta 1 induced transcript 1 |
Synonyms |
hic-5, ARA55, TSC-5 |
MMRRC Submission |
044255-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.378)
|
Stock # |
R6105 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
127845963-127852884 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 127847589 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132100
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044660]
[ENSMUST00000070656]
[ENSMUST00000163609]
[ENSMUST00000164710]
[ENSMUST00000165667]
[ENSMUST00000165667]
[ENSMUST00000167965]
[ENSMUST00000167965]
[ENSMUST00000169919]
[ENSMUST00000170115]
|
AlphaFold |
Q62219 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044660
|
SMART Domains |
Protein: ENSMUSP00000040568 Gene: ENSMUSG00000042178
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
low complexity region
|
62 |
104 |
N/A |
INTRINSIC |
ARM
|
137 |
179 |
2.89e-1 |
SMART |
ARM
|
180 |
221 |
3.32e-1 |
SMART |
ARM
|
222 |
263 |
2.93e-2 |
SMART |
Blast:ARM
|
265 |
306 |
1e-8 |
BLAST |
low complexity region
|
313 |
338 |
N/A |
INTRINSIC |
ARM
|
353 |
399 |
4.88e0 |
SMART |
low complexity region
|
418 |
431 |
N/A |
INTRINSIC |
low complexity region
|
670 |
690 |
N/A |
INTRINSIC |
Pfam:BTB
|
742 |
854 |
9.6e-7 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000070656
|
SMART Domains |
Protein: ENSMUSP00000068529 Gene: ENSMUSG00000030782
Domain | Start | End | E-Value | Type |
Pfam:Paxillin
|
19 |
183 |
1.7e-7 |
PFAM |
LIM
|
210 |
261 |
5.18e-22 |
SMART |
LIM
|
269 |
320 |
4.37e-20 |
SMART |
LIM
|
328 |
379 |
3.69e-18 |
SMART |
LIM
|
387 |
438 |
6.89e-18 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163553
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163609
|
SMART Domains |
Protein: ENSMUSP00000133134 Gene: ENSMUSG00000030782
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
44 |
N/A |
INTRINSIC |
low complexity region
|
64 |
76 |
N/A |
INTRINSIC |
LIM
|
116 |
167 |
5.18e-22 |
SMART |
LIM
|
175 |
226 |
4.37e-20 |
SMART |
LIM
|
234 |
285 |
3.69e-18 |
SMART |
LIM
|
293 |
344 |
6.89e-18 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000164710
|
SMART Domains |
Protein: ENSMUSP00000130964 Gene: ENSMUSG00000030782
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
13 |
N/A |
INTRINSIC |
low complexity region
|
28 |
48 |
N/A |
INTRINSIC |
Pfam:Paxillin
|
49 |
178 |
1.4e-10 |
PFAM |
low complexity region
|
197 |
209 |
N/A |
INTRINSIC |
LIM
|
249 |
300 |
5.18e-22 |
SMART |
LIM
|
308 |
359 |
4.37e-20 |
SMART |
LIM
|
367 |
418 |
3.69e-18 |
SMART |
LIM
|
426 |
477 |
6.89e-18 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000165667
|
SMART Domains |
Protein: ENSMUSP00000127695 Gene: ENSMUSG00000030782
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
20 |
N/A |
INTRINSIC |
low complexity region
|
27 |
37 |
N/A |
INTRINSIC |
low complexity region
|
83 |
116 |
N/A |
INTRINSIC |
low complexity region
|
136 |
148 |
N/A |
INTRINSIC |
LIM
|
188 |
239 |
5.18e-22 |
SMART |
LIM
|
247 |
298 |
4.37e-20 |
SMART |
LIM
|
306 |
357 |
3.69e-18 |
SMART |
LIM
|
365 |
416 |
6.89e-18 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000165667
|
SMART Domains |
Protein: ENSMUSP00000127695 Gene: ENSMUSG00000030782
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
20 |
N/A |
INTRINSIC |
low complexity region
|
27 |
37 |
N/A |
INTRINSIC |
low complexity region
|
83 |
116 |
N/A |
INTRINSIC |
low complexity region
|
136 |
148 |
N/A |
INTRINSIC |
LIM
|
188 |
239 |
5.18e-22 |
SMART |
LIM
|
247 |
298 |
4.37e-20 |
SMART |
LIM
|
306 |
357 |
3.69e-18 |
SMART |
LIM
|
365 |
416 |
6.89e-18 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166755
|
Predicted Effect |
probably null
Transcript: ENSMUST00000167965
|
SMART Domains |
Protein: ENSMUSP00000132100 Gene: ENSMUSG00000030782
Domain | Start | End | E-Value | Type |
Pfam:Paxillin
|
34 |
200 |
7.3e-8 |
PFAM |
LIM
|
227 |
278 |
5.18e-22 |
SMART |
LIM
|
286 |
337 |
4.37e-20 |
SMART |
LIM
|
345 |
396 |
3.69e-18 |
SMART |
LIM
|
404 |
455 |
6.89e-18 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000167965
|
SMART Domains |
Protein: ENSMUSP00000132100 Gene: ENSMUSG00000030782
Domain | Start | End | E-Value | Type |
Pfam:Paxillin
|
34 |
200 |
7.3e-8 |
PFAM |
LIM
|
227 |
278 |
5.18e-22 |
SMART |
LIM
|
286 |
337 |
4.37e-20 |
SMART |
LIM
|
345 |
396 |
3.69e-18 |
SMART |
LIM
|
404 |
455 |
6.89e-18 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168825
|
SMART Domains |
Protein: ENSMUSP00000132685 Gene: ENSMUSG00000030782
Domain | Start | End | E-Value | Type |
low complexity region
|
76 |
92 |
N/A |
INTRINSIC |
low complexity region
|
113 |
125 |
N/A |
INTRINSIC |
LIM
|
165 |
216 |
5.18e-22 |
SMART |
LIM
|
224 |
275 |
4.37e-20 |
SMART |
LIM
|
283 |
334 |
3.69e-18 |
SMART |
LIM
|
342 |
393 |
6.89e-18 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169919
|
SMART Domains |
Protein: ENSMUSP00000131705 Gene: ENSMUSG00000030782
Domain | Start | End | E-Value | Type |
low complexity region
|
24 |
37 |
N/A |
INTRINSIC |
low complexity region
|
44 |
54 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170115
|
SMART Domains |
Protein: ENSMUSP00000129958 Gene: ENSMUSG00000030782
Domain | Start | End | E-Value | Type |
Pfam:Paxillin
|
17 |
112 |
1.9e-12 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171888
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206691
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205654
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 94.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a coactivator of the androgen receptor, a transcription factor which is activated by androgen and has a key role in male sexual differentiation. The encoded protein is thought to regulate androgen receptor activity and may have a role to play in the treatment of prostate cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal response to wire injury of femoral arteries and increased VSMC apoptosis in response to wire injury or mechanical stress. Mice homozygous for a different knock-out allele show normal platelet integrin function both in vitro and in vivo. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
C |
11: 9,347,812 (GRCm39) |
M3555T |
probably damaging |
Het |
Adam9 |
A |
T |
8: 25,460,775 (GRCm39) |
C570S |
probably damaging |
Het |
Adh6b |
T |
A |
3: 138,063,471 (GRCm39) |
I350K |
possibly damaging |
Het |
Ahnak |
G |
A |
19: 8,981,463 (GRCm39) |
V916I |
probably benign |
Het |
Aldh4a1 |
C |
T |
4: 139,365,806 (GRCm39) |
P266S |
possibly damaging |
Het |
Cnot7 |
C |
T |
8: 40,963,078 (GRCm39) |
R32Q |
probably benign |
Het |
Cyb5a |
G |
A |
18: 84,889,718 (GRCm39) |
R49Q |
possibly damaging |
Het |
Fbxo6 |
A |
T |
4: 148,233,979 (GRCm39) |
I39N |
probably damaging |
Het |
Glul |
T |
A |
1: 153,782,177 (GRCm39) |
Y137* |
probably null |
Het |
Ipo8 |
A |
G |
6: 148,700,168 (GRCm39) |
Y570H |
probably damaging |
Het |
Kif2b |
A |
G |
11: 91,466,814 (GRCm39) |
S490P |
probably benign |
Het |
Kxd1 |
A |
T |
8: 70,972,589 (GRCm39) |
N33K |
probably benign |
Het |
Man2a2 |
T |
C |
7: 80,016,749 (GRCm39) |
D355G |
probably damaging |
Het |
Map6 |
T |
C |
7: 98,917,314 (GRCm39) |
V29A |
probably damaging |
Het |
Mtmr3 |
T |
C |
11: 4,435,432 (GRCm39) |
D1116G |
probably damaging |
Het |
Or4p23 |
T |
A |
2: 88,577,184 (GRCm39) |
H16L |
probably benign |
Het |
Or8b52 |
A |
G |
9: 38,576,916 (GRCm39) |
S75P |
probably damaging |
Het |
Or8d2b |
T |
C |
9: 38,788,604 (GRCm39) |
L44P |
possibly damaging |
Het |
Pak1ip1 |
T |
A |
13: 41,158,361 (GRCm39) |
L78Q |
probably damaging |
Het |
Phf10 |
C |
T |
17: 15,174,387 (GRCm39) |
|
probably null |
Het |
Pikfyve |
A |
G |
1: 65,303,504 (GRCm39) |
|
probably null |
Het |
Pkd1l3 |
A |
G |
8: 110,367,478 (GRCm39) |
D1225G |
probably damaging |
Het |
Postn |
A |
G |
3: 54,279,641 (GRCm39) |
|
probably null |
Het |
Slc22a30 |
T |
C |
19: 8,315,232 (GRCm39) |
|
probably null |
Het |
Specc1l |
T |
C |
10: 75,084,466 (GRCm39) |
S730P |
probably damaging |
Het |
Steap2 |
T |
A |
5: 5,725,891 (GRCm39) |
I378F |
possibly damaging |
Het |
Sult4a1 |
T |
A |
15: 83,970,821 (GRCm39) |
K195* |
probably null |
Het |
Thbs4 |
G |
T |
13: 92,911,993 (GRCm39) |
Q246K |
possibly damaging |
Het |
Tnfsf10 |
A |
G |
3: 27,389,698 (GRCm39) |
Y253C |
probably damaging |
Het |
Tnpo3 |
G |
T |
6: 29,588,042 (GRCm39) |
C125* |
probably null |
Het |
Trappc8 |
A |
G |
18: 20,979,504 (GRCm39) |
|
probably null |
Het |
Trpm6 |
C |
T |
19: 18,831,112 (GRCm39) |
R1326* |
probably null |
Het |
Vmn2r19 |
A |
C |
6: 123,293,054 (GRCm39) |
E365D |
possibly damaging |
Het |
Vps18 |
A |
G |
2: 119,119,543 (GRCm39) |
Y8C |
probably damaging |
Het |
Zc3hav1l |
A |
G |
6: 38,270,012 (GRCm39) |
V279A |
probably benign |
Het |
Zfp111 |
T |
C |
7: 23,902,791 (GRCm39) |
|
probably null |
Het |
Zfp618 |
A |
T |
4: 63,051,478 (GRCm39) |
Q753L |
probably benign |
Het |
Zkscan17 |
A |
T |
11: 59,394,401 (GRCm39) |
C67S |
probably damaging |
Het |
|
Other mutations in Tgfb1i1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01098:Tgfb1i1
|
APN |
7 |
127,851,693 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01919:Tgfb1i1
|
APN |
7 |
127,847,654 (GRCm39) |
splice site |
probably benign |
|
IGL01996:Tgfb1i1
|
APN |
7 |
127,848,464 (GRCm39) |
splice site |
probably benign |
|
IGL02527:Tgfb1i1
|
APN |
7 |
127,851,734 (GRCm39) |
splice site |
probably benign |
|
IGL02596:Tgfb1i1
|
APN |
7 |
127,848,068 (GRCm39) |
start codon destroyed |
probably null |
0.05 |
IGL03139:Tgfb1i1
|
APN |
7 |
127,848,476 (GRCm39) |
missense |
possibly damaging |
0.79 |
PIT4431001:Tgfb1i1
|
UTSW |
7 |
127,848,353 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4514001:Tgfb1i1
|
UTSW |
7 |
127,848,353 (GRCm39) |
missense |
probably damaging |
1.00 |
R0114:Tgfb1i1
|
UTSW |
7 |
127,848,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R1833:Tgfb1i1
|
UTSW |
7 |
127,848,670 (GRCm39) |
splice site |
probably benign |
|
R2116:Tgfb1i1
|
UTSW |
7 |
127,851,977 (GRCm39) |
missense |
probably damaging |
1.00 |
R2508:Tgfb1i1
|
UTSW |
7 |
127,848,085 (GRCm39) |
splice site |
probably null |
|
R4695:Tgfb1i1
|
UTSW |
7 |
127,848,348 (GRCm39) |
missense |
probably damaging |
1.00 |
R4756:Tgfb1i1
|
UTSW |
7 |
127,848,571 (GRCm39) |
missense |
probably damaging |
1.00 |
R4853:Tgfb1i1
|
UTSW |
7 |
127,847,840 (GRCm39) |
nonsense |
probably null |
|
R5024:Tgfb1i1
|
UTSW |
7 |
127,847,389 (GRCm39) |
start codon destroyed |
probably null |
0.33 |
R5770:Tgfb1i1
|
UTSW |
7 |
127,847,719 (GRCm39) |
intron |
probably benign |
|
R5839:Tgfb1i1
|
UTSW |
7 |
127,852,537 (GRCm39) |
makesense |
probably null |
|
R6178:Tgfb1i1
|
UTSW |
7 |
127,852,517 (GRCm39) |
missense |
probably damaging |
0.98 |
R6310:Tgfb1i1
|
UTSW |
7 |
127,852,009 (GRCm39) |
missense |
probably damaging |
1.00 |
R8790:Tgfb1i1
|
UTSW |
7 |
127,852,049 (GRCm39) |
missense |
probably damaging |
0.99 |
R8845:Tgfb1i1
|
UTSW |
7 |
127,851,690 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9455:Tgfb1i1
|
UTSW |
7 |
127,852,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACGGTTAGGGGCTCCAAAAG -3'
(R):5'- AAACGGTCTAGCTCACAGAGG -3'
Sequencing Primer
(F):5'- GAGCGCCCACCAGAGAC -3'
(R):5'- TCTAGCTCACAGAGGCCATTG -3'
|
Posted On |
2017-08-16 |