Incidental Mutation 'R6310:Tgfb1i1'
| ID |
509541 |
| 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 |
| MMRRC Submission |
044414-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.378)
|
| Stock # |
R6310 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
127845963-127852884 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 127852009 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 303
(F303L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127695
(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: F325L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000068529
Gene: ENSMUSG00000030782
AA Change: F325L
| 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 damaging
Transcript: ENSMUST00000163609
AA Change: F231L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000133134
Gene: ENSMUSG00000030782
AA Change: F231L
| 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: F364L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000130964
Gene: ENSMUSG00000030782
AA Change: F364L
| 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: F303L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127695
Gene: ENSMUSG00000030782
AA Change: F303L
| 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: F342L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000132100
Gene: ENSMUSG00000030782
AA Change: F342L
| 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 |
noncoding transcript
Transcript: ENSMUST00000205654
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000206691
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.5%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acly |
C |
G |
11: 100,373,046 (GRCm39) |
G856A |
possibly damaging |
Het |
| Adgrb3 |
T |
A |
1: 25,150,799 (GRCm39) |
M1145L |
probably benign |
Het |
| Akap13 |
A |
T |
7: 75,398,941 (GRCm39) |
H2673L |
probably damaging |
Het |
| Bmpr1b |
A |
G |
3: 141,570,297 (GRCm39) |
S131P |
probably damaging |
Het |
| Cep72 |
A |
C |
13: 74,201,144 (GRCm39) |
S175A |
possibly damaging |
Het |
| Chd2 |
C |
T |
7: 73,102,912 (GRCm39) |
E1358K |
probably damaging |
Het |
| Cmip |
T |
C |
8: 118,156,549 (GRCm39) |
I308T |
possibly damaging |
Het |
| Cps1 |
A |
T |
1: 67,182,140 (GRCm39) |
N118I |
probably benign |
Het |
| Cux1 |
C |
T |
5: 136,304,018 (GRCm39) |
G1265D |
probably benign |
Het |
| Ddx24 |
C |
A |
12: 103,390,166 (GRCm39) |
R275L |
probably damaging |
Het |
| Dhx58 |
T |
C |
11: 100,590,193 (GRCm39) |
S364G |
probably benign |
Het |
| Dis3l |
A |
C |
9: 64,229,857 (GRCm39) |
V274G |
probably benign |
Het |
| Fryl |
A |
T |
5: 73,349,104 (GRCm39) |
|
probably benign |
Het |
| Gbf1 |
A |
G |
19: 46,268,444 (GRCm39) |
H1272R |
probably damaging |
Het |
| Gjb3 |
A |
G |
4: 127,220,433 (GRCm39) |
V33A |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gm9964 |
T |
C |
11: 79,187,476 (GRCm39) |
|
probably benign |
Het |
| Grk5 |
T |
C |
19: 61,069,349 (GRCm39) |
I342T |
probably damaging |
Het |
| Hnf1b |
T |
A |
11: 83,795,737 (GRCm39) |
C527S |
probably damaging |
Het |
| Hoxd4 |
G |
T |
2: 74,558,734 (GRCm39) |
A186S |
possibly damaging |
Het |
| Ighv1-78 |
G |
A |
12: 115,832,584 (GRCm39) |
H54Y |
probably benign |
Het |
| Intu |
T |
A |
3: 40,655,721 (GRCm39) |
L936* |
probably null |
Het |
| Kcp |
G |
A |
6: 29,493,257 (GRCm39) |
R89W |
probably damaging |
Het |
| Kctd3 |
T |
C |
1: 188,704,435 (GRCm39) |
T779A |
probably benign |
Het |
| Muc16 |
G |
A |
9: 18,553,246 (GRCm39) |
P4349L |
probably benign |
Het |
| Nedd9 |
T |
C |
13: 41,471,928 (GRCm39) |
T178A |
probably benign |
Het |
| Nuak2 |
G |
T |
1: 132,257,699 (GRCm39) |
A204S |
probably damaging |
Het |
| Or51f1 |
T |
A |
7: 102,506,412 (GRCm39) |
I26F |
probably benign |
Het |
| Or6c214 |
T |
C |
10: 129,590,528 (GRCm39) |
R264G |
probably benign |
Het |
| Pcdhac2 |
C |
A |
18: 37,278,824 (GRCm39) |
Y601* |
probably null |
Het |
| Pla2g4a |
T |
A |
1: 149,717,977 (GRCm39) |
D624V |
possibly damaging |
Het |
| Plxnb1 |
T |
C |
9: 108,938,796 (GRCm39) |
V1386A |
probably damaging |
Het |
| Plxnd1 |
T |
A |
6: 115,953,697 (GRCm39) |
L623F |
possibly damaging |
Het |
| Pms2 |
T |
A |
5: 143,860,401 (GRCm39) |
S71R |
probably benign |
Het |
| Prkg1 |
T |
C |
19: 30,546,651 (GRCm39) |
D683G |
probably damaging |
Het |
| Rasgrp3 |
T |
A |
17: 75,801,204 (GRCm39) |
Y45N |
probably damaging |
Het |
| Rfc4 |
T |
C |
16: 22,933,459 (GRCm39) |
I233M |
probably benign |
Het |
| Sema3a |
G |
A |
5: 13,606,986 (GRCm39) |
G274S |
probably damaging |
Het |
| Sesn1 |
T |
C |
10: 41,772,074 (GRCm39) |
L201P |
probably damaging |
Het |
| Setx |
G |
A |
2: 29,066,947 (GRCm39) |
V2363I |
possibly damaging |
Het |
| Sh3glb1 |
A |
G |
3: 144,403,228 (GRCm39) |
S81P |
probably damaging |
Het |
| Sik3 |
A |
G |
9: 46,089,784 (GRCm39) |
S218G |
probably damaging |
Het |
| Slc12a2 |
C |
G |
18: 58,048,578 (GRCm39) |
F781L |
probably damaging |
Het |
| Slc12a6 |
A |
T |
2: 112,166,184 (GRCm39) |
I188F |
probably damaging |
Het |
| Slc34a2 |
A |
G |
5: 53,222,139 (GRCm39) |
|
probably null |
Het |
| Slc35f4 |
A |
G |
14: 49,559,914 (GRCm39) |
C44R |
probably damaging |
Het |
| Sytl1 |
G |
A |
4: 132,988,309 (GRCm39) |
P16S |
probably benign |
Het |
| Taok3 |
C |
T |
5: 117,394,003 (GRCm39) |
T592M |
possibly damaging |
Het |
| Txk |
T |
C |
5: 72,893,760 (GRCm39) |
S7G |
probably benign |
Het |
| Utp4 |
T |
C |
8: 107,645,253 (GRCm39) |
V550A |
probably benign |
Het |
| Vmn1r229 |
G |
A |
17: 21,034,976 (GRCm39) |
D74N |
probably benign |
Het |
| Zfp638 |
A |
G |
6: 83,844,212 (GRCm39) |
D25G |
possibly damaging |
Het |
| Zfp646 |
T |
C |
7: 127,483,079 (GRCm39) |
V1752A |
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 |
|
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 |
|
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'- AAGCTACAGGTCCACTTTTCTC -3'
(R):5'- CTTTGCAGCAAAAGTGAAGCG -3'
Sequencing Primer
(F):5'- ATCCGTGGGTCCCAACTC -3'
(R):5'- GTGAAGCGACTAATCAACGAATC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation