Incidental Mutation 'PIT4514001:Tgfb1i1'
| ID |
556272 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.378)
|
| Stock # |
PIT4514001 (G1)
|
| Quality Score |
156.008 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
127845963-127852884 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 127848353 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 191
(R191C)
|
| 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 damaging
Transcript: ENSMUST00000070656
AA Change: R152C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000068529
Gene: ENSMUSG00000030782
AA Change: R152C
| 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 |
probably damaging
Transcript: ENSMUST00000163609
AA Change: R58C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133134
Gene: ENSMUSG00000030782
AA Change: R58C
| 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: R191C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130964
Gene: ENSMUSG00000030782
AA Change: R191C
| 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: R130C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127695
Gene: ENSMUSG00000030782
AA Change: R130C
| 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 damaging
Transcript: ENSMUST00000167965
AA Change: R169C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132100
Gene: ENSMUSG00000030782
AA Change: R169C
| 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 |
|
| Coding Region Coverage |
- 1x: 93.1%
- 3x: 90.6%
- 10x: 84.2%
- 20x: 70.3%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
A |
G |
13: 61,001,328 (GRCm39) |
|
probably null |
Het |
| Aadacl4fm2 |
T |
C |
4: 144,282,081 (GRCm39) |
Y237C |
probably damaging |
Het |
| Abcc10 |
T |
A |
17: 46,616,574 (GRCm39) |
I1247F |
probably benign |
Het |
| Acap3 |
G |
A |
4: 155,987,835 (GRCm39) |
A524T |
probably benign |
Het |
| Adcy10 |
T |
A |
1: 165,384,360 (GRCm39) |
N1040K |
probably benign |
Het |
| Adrb2 |
T |
C |
18: 62,312,798 (GRCm39) |
D9G |
probably benign |
Het |
| Aldh1a7 |
T |
C |
19: 20,679,604 (GRCm39) |
T391A |
probably benign |
Het |
| Bcam |
A |
G |
7: 19,497,991 (GRCm39) |
V344A |
probably benign |
Het |
| Birc7 |
T |
A |
2: 180,573,099 (GRCm39) |
I172N |
possibly damaging |
Het |
| Cfap126 |
G |
A |
1: 170,952,881 (GRCm39) |
D45N |
probably damaging |
Het |
| Cfap299 |
T |
A |
5: 98,949,730 (GRCm39) |
H221Q |
probably benign |
Het |
| Cit |
G |
A |
5: 116,135,913 (GRCm39) |
|
probably null |
Het |
| Col26a1 |
A |
G |
5: 136,780,579 (GRCm39) |
V295A |
probably benign |
Het |
| Efcab15 |
T |
C |
11: 103,091,960 (GRCm39) |
D27G |
probably benign |
Het |
| Epha7 |
C |
T |
4: 28,961,355 (GRCm39) |
Q867* |
probably null |
Het |
| Fn1 |
A |
G |
1: 71,667,615 (GRCm39) |
S793P |
probably benign |
Het |
| Foxb1 |
T |
A |
9: 69,667,503 (GRCm39) |
Y9F |
probably damaging |
Het |
| Gpc1 |
T |
A |
1: 92,785,279 (GRCm39) |
M406K |
probably benign |
Het |
| Gsg1 |
T |
C |
6: 135,214,574 (GRCm39) |
T312A |
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,545,238 (GRCm39) |
I2790F |
possibly damaging |
Het |
| Kcnma1 |
C |
T |
14: 23,359,103 (GRCm39) |
|
probably null |
Het |
| Lmntd1 |
AGACTGTAAGTTTCTCAAATGTGTACCTGGA |
AGA |
6: 145,372,979 (GRCm39) |
|
probably null |
Het |
| Mcph1 |
A |
G |
8: 18,681,906 (GRCm39) |
K348E |
probably damaging |
Het |
| Or10al6 |
T |
A |
17: 38,082,758 (GRCm39) |
N71K |
probably damaging |
Het |
| Or8d4 |
T |
C |
9: 40,038,595 (GRCm39) |
I221V |
probably damaging |
Het |
| Pik3cg |
T |
A |
12: 32,254,902 (GRCm39) |
R362W |
probably damaging |
Het |
| Pkp3 |
T |
C |
7: 140,669,623 (GRCm39) |
L765P |
probably damaging |
Het |
| Plxna2 |
A |
T |
1: 194,477,245 (GRCm39) |
I1252F |
probably benign |
Het |
| Prpf8 |
T |
C |
11: 75,387,181 (GRCm39) |
F1154S |
possibly damaging |
Het |
| Scn7a |
A |
G |
2: 66,514,523 (GRCm39) |
F1084L |
probably damaging |
Het |
| Shmt1 |
G |
A |
11: 60,695,173 (GRCm39) |
S47L |
probably damaging |
Het |
| Snap91 |
T |
C |
9: 86,761,486 (GRCm39) |
K40R |
possibly damaging |
Het |
| Spag17 |
A |
T |
3: 99,920,527 (GRCm39) |
T421S |
possibly damaging |
Het |
| Speer4f1 |
T |
A |
5: 17,683,754 (GRCm39) |
N139K |
possibly damaging |
Het |
| Syne2 |
T |
G |
12: 76,151,789 (GRCm39) |
N1883K |
probably damaging |
Het |
| Tmem39b |
A |
C |
4: 129,578,290 (GRCm39) |
N310K |
possibly damaging |
Het |
| Trim3 |
T |
C |
7: 105,267,417 (GRCm39) |
T321A |
probably benign |
Het |
| Vmn2r124 |
T |
C |
17: 18,293,974 (GRCm39) |
I687T |
probably benign |
Het |
| Zbtb8a |
T |
C |
4: 129,251,523 (GRCm39) |
D316G |
probably benign |
Het |
| Zfp639 |
A |
G |
3: 32,574,409 (GRCm39) |
I345V |
possibly damaging |
Het |
| Zfp764 |
T |
C |
7: 127,003,913 (GRCm39) |
H406R |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCACTGTGTGAGTTTGGTAG -3'
(R):5'- TGGAGATGGGCATCCTTCAC -3'
Sequencing Primer
(F):5'- CTGGGAAGCGGATGATGGGTC -3'
(R):5'- ATCCTTCACGGGTGGGG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation