Incidental Mutation 'IGL01996:Tgfb1i1'
| ID |
182931 |
| 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 # |
IGL01996
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
127845963-127852884 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 127848464 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129958
(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
|
| 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 benign
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 benign
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 |
noncoding transcript
Transcript: ENSMUST00000205654
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206691
|
| Predicted Effect |
probably benign
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 |
noncoding transcript
Transcript: ENSMUST00000171888
|
| 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 |
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
T |
C |
1: 120,078,430 (GRCm39) |
V29A |
possibly damaging |
Het |
| Adarb1 |
A |
G |
10: 77,158,051 (GRCm39) |
L132P |
probably damaging |
Het |
| Afg3l1 |
T |
G |
8: 124,228,633 (GRCm39) |
M733R |
probably damaging |
Het |
| Aox1 |
C |
T |
1: 58,121,225 (GRCm39) |
R899C |
probably benign |
Het |
| Arhgap44 |
T |
A |
11: 64,896,322 (GRCm39) |
|
probably benign |
Het |
| Asns |
T |
C |
6: 7,682,378 (GRCm39) |
D189G |
possibly damaging |
Het |
| Brap |
A |
G |
5: 121,816,910 (GRCm39) |
|
probably benign |
Het |
| Ccdc138 |
T |
A |
10: 58,397,852 (GRCm39) |
L564H |
probably damaging |
Het |
| Ccdc167 |
A |
G |
17: 29,924,461 (GRCm39) |
|
probably null |
Het |
| Ccdc178 |
A |
G |
18: 22,230,813 (GRCm39) |
Y353H |
probably damaging |
Het |
| Clca3b |
A |
T |
3: 144,554,924 (GRCm39) |
S41R |
probably benign |
Het |
| Dpep3 |
T |
C |
8: 106,701,358 (GRCm39) |
N397S |
probably damaging |
Het |
| Eif1 |
T |
C |
11: 100,211,826 (GRCm39) |
I83T |
probably benign |
Het |
| Enah |
A |
T |
1: 181,784,070 (GRCm39) |
W80R |
unknown |
Het |
| F2rl1 |
C |
T |
13: 95,650,432 (GRCm39) |
C150Y |
probably damaging |
Het |
| Fbxw24 |
T |
C |
9: 109,434,440 (GRCm39) |
R387G |
possibly damaging |
Het |
| Fsd1l |
A |
G |
4: 53,647,760 (GRCm39) |
T68A |
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,740,846 (GRCm39) |
K1412R |
possibly damaging |
Het |
| Grin2b |
T |
C |
6: 135,709,584 (GRCm39) |
S1321G |
probably damaging |
Het |
| H4c11 |
G |
A |
13: 21,919,308 (GRCm39) |
G15S |
unknown |
Het |
| Itgb7 |
C |
T |
15: 102,126,412 (GRCm39) |
G508D |
probably damaging |
Het |
| Kcnq3 |
A |
G |
15: 65,895,545 (GRCm39) |
I333T |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,934,542 (GRCm39) |
D2115G |
probably damaging |
Het |
| Lmtk3 |
G |
A |
7: 45,442,871 (GRCm39) |
|
probably null |
Het |
| Lrpprc |
A |
G |
17: 85,080,698 (GRCm39) |
Y176H |
probably benign |
Het |
| Mier1 |
T |
C |
4: 102,984,473 (GRCm39) |
S22P |
possibly damaging |
Het |
| Mme |
A |
T |
3: 63,250,970 (GRCm39) |
N337I |
probably benign |
Het |
| Mthfd1 |
A |
G |
12: 76,350,679 (GRCm39) |
Y687C |
probably damaging |
Het |
| Nrp2 |
T |
C |
1: 62,788,419 (GRCm39) |
M373T |
probably damaging |
Het |
| Nudcd1 |
A |
T |
15: 44,269,357 (GRCm39) |
F101Y |
probably benign |
Het |
| Nup133 |
T |
A |
8: 124,673,334 (GRCm39) |
I66L |
probably benign |
Het |
| Or10j7 |
T |
C |
1: 173,011,294 (GRCm39) |
T236A |
probably benign |
Het |
| Or11j4 |
T |
G |
14: 50,631,116 (GRCm39) |
M301R |
probably damaging |
Het |
| Or1e19 |
T |
A |
11: 73,316,794 (GRCm39) |
N5I |
probably damaging |
Het |
| Osbpl5 |
A |
G |
7: 143,261,081 (GRCm39) |
|
probably null |
Het |
| Paqr8 |
T |
C |
1: 21,005,628 (GRCm39) |
F261L |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,482,084 (GRCm39) |
E1452G |
probably damaging |
Het |
| Polh |
T |
C |
17: 46,483,927 (GRCm39) |
D446G |
probably benign |
Het |
| Psg19 |
A |
T |
7: 18,523,986 (GRCm39) |
M353K |
possibly damaging |
Het |
| Sap25 |
T |
C |
5: 137,640,080 (GRCm39) |
|
probably null |
Het |
| Sap30l |
C |
T |
11: 57,700,777 (GRCm39) |
R144* |
probably null |
Het |
| Sema6b |
C |
T |
17: 56,438,157 (GRCm39) |
V144M |
probably damaging |
Het |
| Sfmbt2 |
T |
C |
2: 10,444,837 (GRCm39) |
Y228H |
probably benign |
Het |
| Shank2 |
A |
G |
7: 143,965,230 (GRCm39) |
D946G |
probably damaging |
Het |
| Slc11a1 |
T |
A |
1: 74,415,965 (GRCm39) |
L52Q |
possibly damaging |
Het |
| Sptlc3 |
T |
C |
2: 139,423,424 (GRCm39) |
|
probably benign |
Het |
| Tifa |
T |
C |
3: 127,590,229 (GRCm39) |
|
probably benign |
Het |
| Tomm40l |
C |
T |
1: 171,047,224 (GRCm39) |
V265M |
possibly damaging |
Het |
| Trim45 |
C |
A |
3: 100,835,425 (GRCm39) |
Y469* |
probably null |
Het |
| Ttc21a |
G |
T |
9: 119,787,182 (GRCm39) |
A730S |
probably damaging |
Het |
| Vmn1r18 |
A |
T |
6: 57,367,001 (GRCm39) |
D184E |
possibly damaging |
Het |
| Vmn2r120 |
A |
T |
17: 57,832,222 (GRCm39) |
I189N |
possibly 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 |
|
|
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 |
|
|
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 |
2014-05-07 |
Incidental Mutation