Incidental Mutation 'IGL03139:Tgfb1i1'
ID |
410634 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tgfb1i1
|
Ensembl Gene |
ENSMUSG00000030782 |
Gene Name |
transforming growth factor beta 1 induced transcript 1 |
Synonyms |
hic-5, ARA55, TSC-5 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.430)
|
Stock # |
IGL03139
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
127845963-127852884 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 127848476 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Glutamine
at position 197
(P197Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130964
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044660]
[ENSMUST00000070656]
[ENSMUST00000163609]
[ENSMUST00000164710]
[ENSMUST00000165667]
[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 benign
Transcript: ENSMUST00000070656
AA Change: P158Q
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000068529 Gene: ENSMUSG00000030782 AA Change: P158Q
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
AA Change: P64Q
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000133134 Gene: ENSMUSG00000030782 AA Change: P64Q
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 |
possibly damaging
Transcript: ENSMUST00000164710
AA Change: P197Q
PolyPhen 2
Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000130964 Gene: ENSMUSG00000030782 AA Change: P197Q
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 |
possibly damaging
Transcript: ENSMUST00000165667
AA Change: P136Q
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000127695 Gene: ENSMUSG00000030782 AA Change: P136Q
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 benign
Transcript: ENSMUST00000167965
AA Change: P175Q
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000132100 Gene: ENSMUSG00000030782 AA Change: P175Q
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 |
noncoding transcript
Transcript: ENSMUST00000166755
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205654
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206691
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171888
|
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 |
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 |
|
Coding Region Coverage |
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930011G23Rik |
A |
T |
5: 99,391,067 (GRCm39) |
F97L |
probably benign |
Het |
Acad10 |
T |
C |
5: 121,764,145 (GRCm39) |
Y928C |
probably benign |
Het |
Aqp7 |
A |
G |
4: 41,045,326 (GRCm39) |
M18T |
probably benign |
Het |
Atxn7 |
T |
C |
14: 14,052,994 (GRCm38) |
V144A |
probably damaging |
Het |
Baiap2l2 |
T |
A |
15: 79,155,753 (GRCm39) |
N107I |
probably damaging |
Het |
Cd180 |
A |
G |
13: 102,842,924 (GRCm39) |
K657E |
probably damaging |
Het |
Cep192 |
T |
C |
18: 67,961,547 (GRCm39) |
|
probably null |
Het |
Cma2 |
A |
G |
14: 56,211,256 (GRCm39) |
I183V |
probably damaging |
Het |
Col18a1 |
C |
A |
10: 76,949,177 (GRCm39) |
A112S |
possibly damaging |
Het |
Ctu2 |
A |
G |
8: 123,205,446 (GRCm39) |
D100G |
possibly damaging |
Het |
Defb29 |
T |
C |
2: 152,380,812 (GRCm39) |
K66E |
probably damaging |
Het |
Dis3l |
T |
A |
9: 64,219,232 (GRCm39) |
D566V |
probably damaging |
Het |
Dtx1 |
C |
A |
5: 120,832,955 (GRCm39) |
R161L |
probably damaging |
Het |
Efcab6 |
T |
A |
15: 83,836,422 (GRCm39) |
L436F |
probably benign |
Het |
Fip1l1 |
A |
G |
5: 74,731,776 (GRCm39) |
I254V |
possibly damaging |
Het |
Gid8 |
C |
A |
2: 180,356,501 (GRCm39) |
A46E |
probably damaging |
Het |
Grm8 |
G |
T |
6: 27,618,649 (GRCm39) |
Q398K |
probably damaging |
Het |
Hsd17b7 |
C |
T |
1: 169,780,649 (GRCm39) |
E320K |
probably damaging |
Het |
Iigp1c |
T |
C |
18: 60,379,221 (GRCm39) |
V252A |
probably benign |
Het |
Kcnt1 |
T |
C |
2: 25,784,480 (GRCm39) |
|
probably benign |
Het |
Lrrc8a |
T |
C |
2: 30,145,683 (GRCm39) |
S166P |
probably damaging |
Het |
Map2k6 |
A |
T |
11: 110,387,299 (GRCm39) |
|
probably benign |
Het |
Mmab |
A |
G |
5: 114,571,405 (GRCm39) |
L157P |
probably damaging |
Het |
Mmrn1 |
A |
T |
6: 60,953,324 (GRCm39) |
E535V |
probably damaging |
Het |
Mup4 |
T |
C |
4: 59,958,482 (GRCm39) |
|
probably benign |
Het |
Nup210 |
A |
G |
6: 90,997,221 (GRCm39) |
S820P |
probably benign |
Het |
Or52b4 |
A |
G |
7: 102,184,517 (GRCm39) |
K188E |
possibly damaging |
Het |
Pik3cg |
T |
C |
12: 32,242,222 (GRCm39) |
I963V |
probably damaging |
Het |
Plcg1 |
T |
C |
2: 160,590,049 (GRCm39) |
|
probably null |
Het |
Plscr1 |
T |
C |
9: 92,148,438 (GRCm39) |
|
probably benign |
Het |
Prss36 |
C |
T |
7: 127,532,783 (GRCm39) |
G202E |
probably damaging |
Het |
Psen2 |
A |
T |
1: 180,068,350 (GRCm39) |
V101E |
probably damaging |
Het |
Saxo1 |
T |
C |
4: 86,405,999 (GRCm39) |
M67V |
possibly damaging |
Het |
Sfrp4 |
G |
A |
13: 19,807,728 (GRCm39) |
M42I |
probably damaging |
Het |
Strn3 |
C |
A |
12: 51,699,633 (GRCm39) |
|
probably benign |
Het |
Thsd4 |
A |
G |
9: 59,904,456 (GRCm39) |
V580A |
probably benign |
Het |
Tjp1 |
C |
A |
7: 64,990,182 (GRCm39) |
|
probably benign |
Het |
Tprn |
C |
T |
2: 25,154,066 (GRCm39) |
A456V |
probably benign |
Het |
Ttc34 |
T |
C |
4: 154,945,727 (GRCm39) |
Y763H |
probably benign |
Het |
Ttn |
T |
C |
2: 76,601,507 (GRCm39) |
T18686A |
probably benign |
Het |
Uggt2 |
T |
A |
14: 119,332,722 (GRCm39) |
T71S |
probably benign |
Het |
Vmn2r120 |
T |
A |
17: 57,831,742 (GRCm39) |
Y349F |
probably benign |
Het |
Zbtb41 |
A |
G |
1: 139,351,576 (GRCm39) |
T230A |
probably benign |
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 |
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 |
|
R6105:Tgfb1i1
|
UTSW |
7 |
127,847,589 (GRCm39) |
splice site |
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 |
|
Posted On |
2016-08-02 |