Incidental Mutation 'IGL01098:Tgfb1i1'
| ID |
51524 |
| 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 # |
IGL01098
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
127845963-127852884 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 127851693 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 311
(F311S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132100
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070656]
[ENSMUST00000163609]
[ENSMUST00000164710]
[ENSMUST00000165667]
[ENSMUST00000167965]
[ENSMUST00000169919]
[ENSMUST00000170115]
|
| AlphaFold |
Q62219 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070656
AA Change: F294S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000068529
Gene: ENSMUSG00000030782
AA Change: F294S
| 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: F200S
PolyPhen 2
Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000133134
Gene: ENSMUSG00000030782
AA Change: F200S
| 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: F333S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000130964
Gene: ENSMUSG00000030782
AA Change: F333S
| 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: F272S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127695
Gene: ENSMUSG00000030782
AA Change: F272S
| 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 damaging
Transcript: ENSMUST00000167965
AA Change: F311S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132100
Gene: ENSMUSG00000030782
AA Change: F311S
| 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 |
noncoding transcript
Transcript: ENSMUST00000205654
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206691
|
| 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: 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: 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
T |
C |
2: 151,315,453 (GRCm39) |
D75G |
possibly damaging |
Het |
| Brip1 |
G |
T |
11: 85,999,688 (GRCm39) |
R765S |
possibly damaging |
Het |
| Btbd16 |
T |
C |
7: 130,424,975 (GRCm39) |
I452T |
probably damaging |
Het |
| Cdc42ep4 |
T |
G |
11: 113,620,328 (GRCm39) |
D21A |
probably damaging |
Het |
| Cdx2 |
T |
A |
5: 147,243,792 (GRCm39) |
M1L |
possibly damaging |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Csmd2 |
C |
T |
4: 127,952,845 (GRCm39) |
T98M |
probably damaging |
Het |
| Cyp26a1 |
A |
T |
19: 37,688,450 (GRCm39) |
Q324L |
probably benign |
Het |
| Etaa1 |
A |
G |
11: 17,896,059 (GRCm39) |
V686A |
probably damaging |
Het |
| Gpr6 |
G |
A |
10: 40,946,739 (GRCm39) |
T281I |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,369,204 (GRCm39) |
|
probably null |
Het |
| Lama2 |
A |
T |
10: 26,907,108 (GRCm39) |
I2351N |
possibly damaging |
Het |
| Lman1 |
A |
G |
18: 66,124,711 (GRCm39) |
F343L |
probably damaging |
Het |
| Lmo1 |
A |
G |
7: 108,742,657 (GRCm39) |
|
probably benign |
Het |
| Lrrc17 |
T |
A |
5: 21,780,269 (GRCm39) |
F414L |
probably benign |
Het |
| Man2b2 |
A |
T |
5: 36,972,900 (GRCm39) |
L538Q |
probably damaging |
Het |
| Map3k9 |
A |
G |
12: 81,770,928 (GRCm39) |
S910P |
probably damaging |
Het |
| Mapk1ip1 |
G |
A |
7: 138,438,191 (GRCm39) |
P80S |
probably damaging |
Het |
| Mindy4 |
G |
T |
6: 55,261,727 (GRCm39) |
|
probably benign |
Het |
| Msh4 |
A |
T |
3: 153,583,619 (GRCm39) |
|
probably benign |
Het |
| Mta2 |
A |
G |
19: 8,924,081 (GRCm39) |
D187G |
probably damaging |
Het |
| Olfml2a |
A |
G |
2: 38,837,226 (GRCm39) |
|
probably null |
Het |
| Pink1 |
A |
T |
4: 138,047,408 (GRCm39) |
|
probably null |
Het |
| Plekha6 |
T |
C |
1: 133,209,903 (GRCm39) |
F575L |
possibly damaging |
Het |
| Rpe |
C |
A |
1: 66,745,674 (GRCm39) |
D71E |
probably benign |
Het |
| Slc5a7 |
C |
T |
17: 54,599,988 (GRCm39) |
A142T |
probably benign |
Het |
| Sptbn1 |
C |
T |
11: 30,109,385 (GRCm39) |
R70K |
probably damaging |
Het |
| Taf1c |
G |
T |
8: 120,329,580 (GRCm39) |
Q159K |
probably damaging |
Het |
| Tmc8 |
T |
C |
11: 117,683,389 (GRCm39) |
V648A |
possibly damaging |
Het |
| Tmed8 |
G |
T |
12: 87,223,445 (GRCm39) |
A98E |
probably benign |
Het |
| Tmem200a |
A |
G |
10: 25,870,041 (GRCm39) |
I76T |
probably damaging |
Het |
| Vmn2r104 |
T |
C |
17: 20,268,358 (GRCm39) |
E37G |
probably benign |
Het |
| Vmn2r18 |
A |
T |
5: 151,496,296 (GRCm39) |
V474E |
probably damaging |
Het |
| Vps52 |
C |
T |
17: 34,181,704 (GRCm39) |
T510I |
possibly damaging |
Het |
| Wwox |
G |
T |
8: 115,172,118 (GRCm39) |
G71* |
probably null |
Het |
| Zer1 |
C |
T |
2: 29,998,232 (GRCm39) |
|
probably null |
Het |
| Zfp296 |
A |
T |
7: 19,311,845 (GRCm39) |
K117N |
possibly damaging |
Het |
|
| Other mutations in Tgfb1i1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2013-06-21 |
Incidental Mutation