Incidental Mutation 'IGL02596:Tgfb1i1'
| ID |
299866 |
| 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 # |
IGL02596
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
127845963-127852884 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to A
at 127848068 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133134
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044660]
[ENSMUST00000070656]
[ENSMUST00000163609]
[ENSMUST00000164710]
[ENSMUST00000165667]
[ENSMUST00000167965]
[ENSMUST00000170115]
[ENSMUST00000169919]
|
| 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 |
possibly damaging
Transcript: ENSMUST00000070656
AA Change: M95K
PolyPhen 2
Score 0.739 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000068529
Gene: ENSMUSG00000030782
AA Change: M95K
| 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 null
Transcript: ENSMUST00000163609
AA Change: M1K
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000133134
Gene: ENSMUSG00000030782
AA Change: M1K
| 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 damaging
Transcript: ENSMUST00000164710
AA Change: M134K
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000130964
Gene: ENSMUSG00000030782
AA Change: M134K
| 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 damaging
Transcript: ENSMUST00000165667
AA Change: M73K
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000127695
Gene: ENSMUSG00000030782
AA Change: M73K
| 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 |
possibly damaging
Transcript: ENSMUST00000167965
AA Change: M112K
PolyPhen 2
Score 0.739 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000132100
Gene: ENSMUSG00000030782
AA Change: M112K
| 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 |
unknown
Transcript: ENSMUST00000168825
AA Change: M73K
|
| SMART Domains |
Protein: ENSMUSP00000132685
Gene: ENSMUSG00000030782
AA Change: M73K
| 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 |
noncoding transcript
Transcript: ENSMUST00000171888
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205654
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206691
|
| 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: 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 |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310002L09Rik |
T |
G |
4: 73,868,904 (GRCm39) |
Q11H |
possibly damaging |
Het |
| Armcx5 |
T |
A |
X: 134,647,268 (GRCm39) |
I448K |
probably damaging |
Het |
| Atp4b |
T |
A |
8: 13,443,471 (GRCm39) |
Y69F |
possibly damaging |
Het |
| Ccdc7b |
T |
A |
8: 129,798,959 (GRCm39) |
V12E |
probably benign |
Het |
| Cdc5l |
C |
A |
17: 45,735,530 (GRCm39) |
|
probably benign |
Het |
| Clptm1l |
C |
T |
13: 73,761,785 (GRCm39) |
R330C |
probably benign |
Het |
| Cpq |
C |
T |
15: 33,213,160 (GRCm39) |
R60W |
probably damaging |
Het |
| Cpvl |
T |
C |
6: 53,908,995 (GRCm39) |
Y256C |
probably damaging |
Het |
| Cryzl2 |
A |
T |
1: 157,292,539 (GRCm39) |
D107V |
probably damaging |
Het |
| Cyp2e1 |
G |
A |
7: 140,350,031 (GRCm39) |
V239M |
probably damaging |
Het |
| Cyp2j7 |
T |
A |
4: 96,103,659 (GRCm39) |
D292V |
possibly damaging |
Het |
| Dcaf1 |
A |
G |
9: 106,740,220 (GRCm39) |
Y1202C |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,538,137 (GRCm39) |
N3616S |
probably benign |
Het |
| Enam |
A |
G |
5: 88,650,885 (GRCm39) |
D723G |
probably benign |
Het |
| Eps8l1 |
G |
A |
7: 4,473,871 (GRCm39) |
R226H |
probably damaging |
Het |
| Erich2 |
A |
G |
2: 70,343,147 (GRCm39) |
|
probably benign |
Het |
| Esyt3 |
A |
C |
9: 99,210,068 (GRCm39) |
L271V |
probably benign |
Het |
| Fer1l4 |
T |
C |
2: 155,881,052 (GRCm39) |
N838S |
probably benign |
Het |
| Gad1 |
T |
C |
2: 70,425,028 (GRCm39) |
Y441H |
probably damaging |
Het |
| Gja1 |
G |
T |
10: 56,264,348 (GRCm39) |
V236F |
possibly damaging |
Het |
| Gpr156 |
T |
C |
16: 37,799,086 (GRCm39) |
I100T |
probably benign |
Het |
| Hace1 |
A |
G |
10: 45,576,736 (GRCm39) |
T803A |
possibly damaging |
Het |
| Jagn1 |
G |
A |
6: 113,424,562 (GRCm39) |
V145I |
probably benign |
Het |
| Kdm4b |
C |
A |
17: 56,706,706 (GRCm39) |
T899K |
probably benign |
Het |
| Klk1b8 |
G |
A |
7: 43,602,187 (GRCm39) |
V40M |
probably damaging |
Het |
| Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
| Mast1 |
G |
T |
8: 85,644,400 (GRCm39) |
A843E |
probably benign |
Het |
| Mbd1 |
T |
A |
18: 74,409,868 (GRCm39) |
|
probably benign |
Het |
| Mdga1 |
A |
G |
17: 30,051,379 (GRCm39) |
|
probably benign |
Het |
| Mlh3 |
A |
G |
12: 85,287,732 (GRCm39) |
|
probably null |
Het |
| Or10ag53 |
C |
A |
2: 87,082,473 (GRCm39) |
T64K |
probably damaging |
Het |
| Or5b109 |
A |
T |
19: 13,211,763 (GRCm39) |
I50F |
probably damaging |
Het |
| Pwp1 |
A |
G |
10: 85,707,882 (GRCm39) |
|
probably null |
Het |
| Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
| Slc12a7 |
T |
A |
13: 73,933,242 (GRCm39) |
V100E |
probably benign |
Het |
| Spata31e2 |
T |
A |
1: 26,723,083 (GRCm39) |
H699L |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tubgcp6 |
T |
A |
15: 88,985,117 (GRCm39) |
E1657V |
probably damaging |
Het |
| Zfp770 |
A |
G |
2: 114,026,308 (GRCm39) |
V587A |
probably benign |
Het |
| Zxdc |
A |
G |
6: 90,350,691 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation