Incidental Mutation 'R6270:Tgif1'
| ID |
507301 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tgif1
|
| Ensembl Gene |
ENSMUSG00000047407 |
| Gene Name |
TGFB-induced factor homeobox 1 |
| Synonyms |
Tgif |
| MMRRC Submission |
044441-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6270 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
71151200-71160527 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 71151861 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059775]
[ENSMUST00000118283]
[ENSMUST00000127719]
[ENSMUST00000134654]
[ENSMUST00000135007]
[ENSMUST00000166395]
[ENSMUST00000172229]
[ENSMUST00000186358]
|
| AlphaFold |
P70284 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059775
AA Change: E217G
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000060512
Gene: ENSMUSG00000047407
AA Change: E217G
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
35 |
100 |
1.53e-13 |
SMART |
|
low complexity region
|
117 |
126 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118283
AA Change: E197G
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113192
Gene: ENSMUSG00000047407
AA Change: E197G
| 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 damaging
Transcript: ENSMUST00000127719
AA Change: E197G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115375
Gene: ENSMUSG00000047407
AA Change: E197G
| 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 damaging
Transcript: ENSMUST00000166395
AA Change: E250G
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000130930
Gene: ENSMUSG00000047407
AA Change: E250G
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
68 |
133 |
1.53e-13 |
SMART |
|
low complexity region
|
150 |
159 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172229
AA Change: E197G
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000127139
Gene: ENSMUSG00000047407
AA Change: E197G
| 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: ENSMUST00000186358
|
| SMART Domains |
Protein: ENSMUSP00000139438
Gene: ENSMUSG00000047407
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
35 |
84 |
1.7e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190687
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000156484
|
| SMART Domains |
Protein: ENSMUSP00000124970
Gene: ENSMUSG00000047407
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
6 |
57 |
2.23e-1 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.6%
|
| Validation Efficiency |
98% (51/52) |
| 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 |
|---|
| Acsl6 |
A |
G |
11: 54,242,933 (GRCm39) |
E648G |
probably benign |
Het |
| Ak7 |
A |
G |
12: 105,734,960 (GRCm39) |
H642R |
probably benign |
Het |
| Akap11 |
T |
C |
14: 78,756,239 (GRCm39) |
E53G |
probably damaging |
Het |
| Ark2n |
T |
C |
18: 77,762,117 (GRCm39) |
D65G |
probably damaging |
Het |
| Ddr2 |
T |
G |
1: 169,816,109 (GRCm39) |
T533P |
probably benign |
Het |
| Dhx40 |
A |
G |
11: 86,690,431 (GRCm39) |
S197P |
possibly damaging |
Het |
| Dolpp1 |
C |
A |
2: 30,282,281 (GRCm39) |
|
probably benign |
Het |
| Eng |
A |
G |
2: 32,563,655 (GRCm39) |
D347G |
probably benign |
Het |
| Esrra |
C |
T |
19: 6,891,488 (GRCm39) |
|
probably null |
Het |
| Fap |
T |
C |
2: 62,378,132 (GRCm39) |
I159V |
probably damaging |
Het |
| Fn1 |
C |
T |
1: 71,676,434 (GRCm39) |
C599Y |
probably damaging |
Het |
| Fnbp4 |
T |
C |
2: 90,587,807 (GRCm39) |
V395A |
probably damaging |
Het |
| Foxn3 |
T |
C |
12: 99,354,676 (GRCm39) |
R163G |
probably damaging |
Het |
| Gphn |
T |
G |
12: 78,569,724 (GRCm39) |
L306R |
probably benign |
Het |
| Gse1 |
T |
C |
8: 121,295,902 (GRCm39) |
|
probably benign |
Het |
| Habp2 |
A |
G |
19: 56,295,295 (GRCm39) |
D62G |
possibly damaging |
Het |
| Hdac7 |
AGGG |
AGGGG |
15: 97,706,376 (GRCm39) |
|
probably null |
Het |
| Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
| Kit |
A |
G |
5: 75,770,169 (GRCm39) |
T194A |
probably benign |
Het |
| Krt16 |
C |
A |
11: 100,138,029 (GRCm39) |
A316S |
possibly damaging |
Het |
| Krt7 |
A |
G |
15: 101,317,439 (GRCm39) |
D244G |
probably damaging |
Het |
| Lhfpl3 |
T |
A |
5: 23,478,349 (GRCm39) |
Y77* |
probably null |
Het |
| Lrrc18 |
A |
T |
14: 32,731,078 (GRCm39) |
M206L |
probably benign |
Het |
| Magel2 |
C |
A |
7: 62,030,406 (GRCm39) |
C1103* |
probably null |
Het |
| Mcf2l |
T |
C |
8: 13,068,701 (GRCm39) |
V1058A |
probably damaging |
Het |
| Nbas |
G |
A |
12: 13,374,294 (GRCm39) |
A541T |
probably damaging |
Het |
| Nrap |
C |
T |
19: 56,308,630 (GRCm39) |
M1485I |
probably benign |
Het |
| Nudt18 |
T |
C |
14: 70,816,830 (GRCm39) |
Y145H |
probably benign |
Het |
| Or51b6b |
T |
C |
7: 103,309,620 (GRCm39) |
Y279C |
possibly damaging |
Het |
| Or51f1d |
T |
C |
7: 102,700,538 (GRCm39) |
L11P |
probably benign |
Het |
| Or5k8 |
A |
T |
16: 58,644,782 (GRCm39) |
C97S |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcdhb12 |
A |
T |
18: 37,569,838 (GRCm39) |
Q328L |
possibly damaging |
Het |
| Pde6c |
T |
C |
19: 38,146,884 (GRCm39) |
W431R |
probably damaging |
Het |
| Pga5 |
T |
C |
19: 10,652,225 (GRCm39) |
E139G |
probably benign |
Het |
| Pkdrej |
G |
T |
15: 85,705,306 (GRCm39) |
S210* |
probably null |
Het |
| Pnpla1 |
G |
A |
17: 29,100,342 (GRCm39) |
G403E |
probably benign |
Het |
| Sema3d |
A |
T |
5: 12,498,074 (GRCm39) |
M27L |
probably benign |
Het |
| Serinc5 |
T |
C |
13: 92,825,170 (GRCm39) |
S200P |
probably damaging |
Het |
| Sf3b3 |
T |
C |
8: 111,568,452 (GRCm39) |
D174G |
probably damaging |
Het |
| Sult1b1 |
A |
T |
5: 87,665,413 (GRCm39) |
|
probably null |
Het |
| Tasor2 |
C |
T |
13: 3,631,891 (GRCm39) |
R870H |
possibly damaging |
Het |
| Tcaf3 |
T |
C |
6: 42,570,725 (GRCm39) |
I342M |
probably benign |
Het |
| Tenm3 |
G |
A |
8: 48,820,429 (GRCm39) |
T136M |
probably damaging |
Het |
| Tet3 |
T |
C |
6: 83,352,773 (GRCm39) |
T1008A |
possibly damaging |
Het |
| Trav15-2-dv6-2 |
A |
G |
14: 53,887,323 (GRCm39) |
D81G |
probably benign |
Het |
| Trpv5 |
T |
A |
6: 41,651,293 (GRCm39) |
H251L |
possibly damaging |
Het |
| Ttc14 |
C |
A |
3: 33,854,537 (GRCm39) |
T37K |
possibly damaging |
Het |
| Vmn2r80 |
A |
T |
10: 79,030,159 (GRCm39) |
I662L |
probably benign |
Het |
| Vmn2r81 |
A |
G |
10: 79,129,649 (GRCm39) |
I847V |
probably benign |
Het |
| Zfp474 |
A |
G |
18: 52,771,436 (GRCm39) |
T30A |
probably benign |
Het |
| Zswim4 |
C |
T |
8: 84,957,580 (GRCm39) |
V163M |
probably damaging |
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 |
|
R0050:Tgif1
|
UTSW |
17 |
71,157,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAACGGTTAAGCTGTGAGTTTG -3'
(R):5'- AGAGCCCATTTCATTCCTGC -3'
Sequencing Primer
(F):5'- GAGTTTGGCCTGAAGCTCCATC -3'
(R):5'- ATTCCTGCGTAGTTGGACC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation