Incidental Mutation 'R0050:Tgif1'
| ID |
15841 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tgif1
|
| Ensembl Gene |
ENSMUSG00000047407 |
| Gene Name |
TGFB-induced factor homeobox 1 |
| Synonyms |
Tgif |
| MMRRC Submission |
038344-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0050 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
71151200-71160527 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 71157879 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamine
at position 2
(K2Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060512
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059775]
[ENSMUST00000118283]
[ENSMUST00000127719]
[ENSMUST00000134654]
[ENSMUST00000135007]
[ENSMUST00000166395]
[ENSMUST00000186358]
[ENSMUST00000172229]
|
| AlphaFold |
P70284 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059775
AA Change: K2Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000060512
Gene: ENSMUSG00000047407
AA Change: K2Q
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
35 |
100 |
1.53e-13 |
SMART |
|
low complexity region
|
117 |
126 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118283
|
| SMART Domains |
Protein: ENSMUSP00000113192
Gene: ENSMUSG00000047407
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
15 |
80 |
1.53e-13 |
SMART |
|
low complexity region
|
97 |
106 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125329
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127719
|
| SMART Domains |
Protein: ENSMUSP00000115375
Gene: ENSMUSG00000047407
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
15 |
80 |
1.53e-13 |
SMART |
|
low complexity region
|
97 |
106 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132825
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134654
|
| SMART Domains |
Protein: ENSMUSP00000125247
Gene: ENSMUSG00000047407
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
20 |
N/A |
INTRINSIC |
|
Pfam:Homeobox_KN
|
33 |
58 |
7.3e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135007
|
| SMART Domains |
Protein: ENSMUSP00000124168
Gene: ENSMUSG00000047407
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
15 |
80 |
1.53e-13 |
SMART |
|
low complexity region
|
97 |
106 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166395
|
| SMART Domains |
Protein: ENSMUSP00000130930
Gene: ENSMUSG00000047407
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
68 |
133 |
1.53e-13 |
SMART |
|
low complexity region
|
150 |
159 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000186358
AA Change: K2Q
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139438
Gene: ENSMUSG00000047407
AA Change: K2Q
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
35 |
84 |
1.7e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176549
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190687
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156484
|
| SMART Domains |
Protein: ENSMUSP00000124970
Gene: ENSMUSG00000047407
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
6 |
57 |
2.23e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172229
|
| SMART Domains |
Protein: ENSMUSP00000127139
Gene: ENSMUSG00000047407
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
15 |
80 |
1.53e-13 |
SMART |
|
low complexity region
|
97 |
106 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0864 |
| Coding Region Coverage |
- 1x: 88.6%
- 3x: 85.4%
- 10x: 76.7%
- 20x: 62.7%
|
| Validation Efficiency |
90% (86/96) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the three-amino acid loop extension (TALE) superclass of atypical homeodomains. TALE homeobox proteins are highly conserved transcription regulators. This particular homeodomain binds to a previously characterized retinoid X receptor responsive element from the cellular retinol-binding protein II promoter. In addition to its role in inhibiting 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element, the protein is an active transcriptional co-repressor of SMAD2 and may participate in the transmission of nuclear signals during development and in the adult. Mutations in this gene are associated with holoprosencephaly type 4, which is a structural anomaly of the brain. Alternative splicing has been observed at this locus and multiple splice variants encoding distinct isoforms are described. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous null mice display normal growth, behavior and fertility. [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 |
|---|
| Abca1 |
A |
G |
4: 53,069,910 (GRCm39) |
|
probably benign |
Het |
| Abca9 |
C |
T |
11: 110,036,417 (GRCm39) |
C564Y |
probably damaging |
Het |
| Abhd14a |
A |
T |
9: 106,318,082 (GRCm39) |
|
probably benign |
Het |
| Acnat2 |
G |
A |
4: 49,380,586 (GRCm39) |
T264I |
probably benign |
Het |
| Adamts2 |
T |
C |
11: 50,666,222 (GRCm39) |
V406A |
probably damaging |
Het |
| Adcy5 |
A |
G |
16: 35,124,673 (GRCm39) |
|
probably benign |
Het |
| Akr1c13 |
T |
C |
13: 4,244,669 (GRCm39) |
|
probably benign |
Het |
| Ankar |
T |
A |
1: 72,695,323 (GRCm39) |
E1093D |
probably damaging |
Het |
| Arhgef38 |
C |
A |
3: 132,837,957 (GRCm39) |
D75Y |
probably damaging |
Het |
| Asns |
T |
C |
6: 7,676,019 (GRCm39) |
I484V |
probably benign |
Het |
| Astn1 |
T |
C |
1: 158,407,294 (GRCm39) |
|
probably benign |
Het |
| Atg4b |
T |
A |
1: 93,715,440 (GRCm39) |
|
probably benign |
Het |
| Cadm2 |
A |
G |
16: 66,750,154 (GRCm39) |
|
probably benign |
Het |
| Ces2c |
T |
A |
8: 105,574,831 (GRCm39) |
M96K |
probably benign |
Het |
| Cpd |
T |
A |
11: 76,683,685 (GRCm39) |
T1025S |
possibly damaging |
Het |
| Daw1 |
T |
C |
1: 83,158,086 (GRCm39) |
V45A |
probably benign |
Het |
| Dmrt3 |
C |
A |
19: 25,599,953 (GRCm39) |
P266H |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,907,808 (GRCm39) |
T4416A |
probably benign |
Het |
| Dock9 |
A |
G |
14: 121,844,637 (GRCm39) |
V1124A |
probably benign |
Het |
| Ermp1 |
C |
A |
19: 29,606,184 (GRCm39) |
A190S |
probably damaging |
Het |
| Gm10267 |
T |
A |
18: 44,289,520 (GRCm39) |
|
probably benign |
Het |
| Golga2 |
T |
A |
2: 32,182,139 (GRCm39) |
V29D |
probably damaging |
Het |
| Gprc6a |
T |
A |
10: 51,491,485 (GRCm39) |
M755L |
probably damaging |
Het |
| H1f8 |
G |
T |
6: 115,924,729 (GRCm39) |
K78N |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 68,089,051 (GRCm39) |
D1574V |
possibly damaging |
Het |
| Lama3 |
T |
A |
18: 12,537,160 (GRCm39) |
H268Q |
probably damaging |
Het |
| Lmntd1 |
T |
C |
6: 145,363,202 (GRCm39) |
D107G |
probably damaging |
Het |
| Lrriq1 |
A |
G |
10: 102,904,792 (GRCm39) |
V1614A |
probably damaging |
Het |
| Mmp12 |
A |
G |
9: 7,350,152 (GRCm39) |
|
probably benign |
Het |
| Mre11a |
A |
G |
9: 14,742,269 (GRCm39) |
|
probably benign |
Het |
| Mtrf1l |
T |
C |
10: 5,765,553 (GRCm39) |
|
silent |
Het |
| Oaz2 |
A |
G |
9: 65,595,084 (GRCm39) |
E61G |
probably damaging |
Het |
| Parp3 |
A |
T |
9: 106,348,600 (GRCm39) |
D473E |
possibly damaging |
Het |
| Pear1 |
G |
T |
3: 87,663,294 (GRCm39) |
Y441* |
probably null |
Het |
| Pkhd1l1 |
A |
T |
15: 44,437,203 (GRCm39) |
T3493S |
possibly damaging |
Het |
| Ppp3cb |
A |
G |
14: 20,581,820 (GRCm39) |
V65A |
possibly damaging |
Het |
| Rheb |
A |
T |
5: 25,022,832 (GRCm39) |
|
probably benign |
Het |
| Ros1 |
G |
A |
10: 51,977,899 (GRCm39) |
T1449M |
probably damaging |
Het |
| Scn4a |
C |
G |
11: 106,211,682 (GRCm39) |
R1445P |
probably damaging |
Het |
| Sema3d |
T |
A |
5: 12,634,920 (GRCm39) |
M662K |
probably benign |
Het |
| Skp2 |
A |
G |
15: 9,125,178 (GRCm39) |
F134L |
probably benign |
Het |
| Slc6a12 |
T |
C |
6: 121,337,378 (GRCm39) |
|
probably benign |
Het |
| Slc8a3 |
T |
C |
12: 81,362,039 (GRCm39) |
Y260C |
probably damaging |
Het |
| Spin1 |
T |
A |
13: 51,304,454 (GRCm39) |
|
probably benign |
Het |
| Stx2 |
A |
G |
5: 129,076,572 (GRCm39) |
|
probably null |
Het |
| Sycp2 |
A |
T |
2: 178,006,504 (GRCm39) |
V863D |
probably damaging |
Het |
| Tgfb3 |
T |
A |
12: 86,116,658 (GRCm39) |
I127F |
possibly damaging |
Het |
| Trmt2a |
A |
T |
16: 18,068,707 (GRCm39) |
E234D |
probably damaging |
Het |
| Trps1 |
A |
T |
15: 50,628,921 (GRCm39) |
S696T |
probably benign |
Het |
| Ucp1 |
A |
G |
8: 84,020,857 (GRCm39) |
E191G |
probably damaging |
Het |
| Usp48 |
C |
A |
4: 137,341,114 (GRCm39) |
D371E |
probably damaging |
Het |
| Usp54 |
A |
T |
14: 20,623,823 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tgif1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00757:Tgif1
|
APN |
17 |
71,153,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03169:Tgif1
|
APN |
17 |
71,151,836 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03179:Tgif1
|
APN |
17 |
71,151,942 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4569:Tgif1
|
UTSW |
17 |
71,151,912 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4877:Tgif1
|
UTSW |
17 |
71,156,700 (GRCm39) |
splice site |
probably null |
|
|
R4914:Tgif1
|
UTSW |
17 |
71,152,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4985:Tgif1
|
UTSW |
17 |
71,151,867 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5272:Tgif1
|
UTSW |
17 |
71,153,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5760:Tgif1
|
UTSW |
17 |
71,151,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6270:Tgif1
|
UTSW |
17 |
71,151,861 (GRCm39) |
splice site |
probably null |
|
|
R6528:Tgif1
|
UTSW |
17 |
71,153,555 (GRCm39) |
intron |
probably benign |
|
|
R6693:Tgif1
|
UTSW |
17 |
71,157,885 (GRCm39) |
start gained |
probably benign |
|
|
R7231:Tgif1
|
UTSW |
17 |
71,153,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7319:Tgif1
|
UTSW |
17 |
71,151,847 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7776:Tgif1
|
UTSW |
17 |
71,158,452 (GRCm39) |
unclassified |
probably benign |
|
|
R7818:Tgif1
|
UTSW |
17 |
71,156,603 (GRCm39) |
splice site |
probably null |
|
|
R8100:Tgif1
|
UTSW |
17 |
71,153,544 (GRCm39) |
intron |
probably benign |
|
|
R9051:Tgif1
|
UTSW |
17 |
71,151,882 (GRCm39) |
missense |
|
|
|
| Posted On |
2013-01-08 |
Incidental Mutation