Incidental Mutation 'IGL01141:Tfip11'
| ID |
51189 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tfip11
|
| Ensembl Gene |
ENSMUSG00000029345 |
| Gene Name |
tuftelin interacting protein 11 |
| Synonyms |
Tip39 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
IGL01141
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
112474235-112485939 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 112477369 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 117
(P117L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031288
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031288]
[ENSMUST00000129528]
[ENSMUST00000198238]
|
| AlphaFold |
Q9ERA6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031288
AA Change: P117L
PolyPhen 2
Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000031288
Gene: ENSMUSG00000029345
AA Change: P117L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TIP_N
|
17 |
114 |
1.4e-30 |
PFAM |
|
G_patch
|
148 |
194 |
3.3e-18 |
SMART |
|
low complexity region
|
212 |
218 |
N/A |
INTRINSIC |
|
low complexity region
|
228 |
242 |
N/A |
INTRINSIC |
|
Pfam:GCFC
|
398 |
667 |
3.4e-102 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129528
|
| SMART Domains |
Protein: ENSMUSP00000115225
Gene: ENSMUSG00000029345
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TIP_N
|
15 |
70 |
9.1e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198238
|
| SMART Domains |
Protein: ENSMUSP00000142844
Gene: ENSMUSG00000029345
| Domain | Start | End | E-Value | Type |
|---|
|
G_patch
|
8 |
54 |
1.9e-20 |
SMART |
|
low complexity region
|
72 |
78 |
N/A |
INTRINSIC |
|
| 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 protein component of the spliceosome that promotes the release of the lariat-intron during late-stage splicing through the recruitment of a pre-mRNA splicing factor called DEAH-box helicase 15. The encoded protein contains a G-patch domain, a hallmark of RNA-processing proteins, that binds DEAH-box helicase 15. This protein contains an atypical nuclear localization sequence as well as a nuclear speckle-targeting sequence, enabling it to localize to distinct speckled regions within the cell nucleus. Polymorphisms in this gene are associated with dental caries suggesting a role in amelogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
A |
T |
11: 109,828,556 (GRCm39) |
D1447E |
probably damaging |
Het |
| Atp2a3 |
T |
C |
11: 72,873,491 (GRCm39) |
I788T |
probably damaging |
Het |
| Axin1 |
G |
A |
17: 26,409,015 (GRCm39) |
E672K |
probably damaging |
Het |
| Ccno |
A |
G |
13: 113,125,561 (GRCm39) |
D175G |
probably damaging |
Het |
| Cep83 |
C |
A |
10: 94,624,619 (GRCm39) |
T632K |
probably benign |
Het |
| Ckmt1 |
A |
T |
2: 121,193,474 (GRCm39) |
I345F |
probably benign |
Het |
| Cntnap1 |
G |
A |
11: 101,069,633 (GRCm39) |
|
probably benign |
Het |
| Cstdc3 |
A |
G |
16: 36,128,426 (GRCm39) |
E7G |
probably benign |
Het |
| Edem2 |
A |
G |
2: 155,550,948 (GRCm39) |
Y340H |
probably benign |
Het |
| Erich3 |
A |
G |
3: 154,419,653 (GRCm39) |
K249R |
probably benign |
Het |
| Fndc9 |
T |
C |
11: 46,128,526 (GRCm39) |
I15T |
probably benign |
Het |
| Grip2 |
G |
T |
6: 91,759,878 (GRCm39) |
Q300K |
probably benign |
Het |
| Herc2 |
T |
C |
7: 55,862,589 (GRCm39) |
V4050A |
possibly damaging |
Het |
| Jup |
A |
T |
11: 100,277,075 (GRCm39) |
D44E |
probably benign |
Het |
| Lingo3 |
G |
T |
10: 80,671,147 (GRCm39) |
P261Q |
probably damaging |
Het |
| Lrrfip2 |
C |
T |
9: 111,048,783 (GRCm39) |
R311W |
probably damaging |
Het |
| Mansc1 |
C |
A |
6: 134,598,748 (GRCm39) |
L56F |
probably benign |
Het |
| Map1b |
A |
G |
13: 99,571,269 (GRCm39) |
I484T |
probably damaging |
Het |
| Mpeg1 |
T |
A |
19: 12,440,149 (GRCm39) |
F536I |
probably damaging |
Het |
| Mrgprb1 |
T |
G |
7: 48,097,775 (GRCm39) |
T46P |
probably benign |
Het |
| Mug1 |
A |
G |
6: 121,847,458 (GRCm39) |
N612S |
probably benign |
Het |
| Or5p56 |
T |
C |
7: 107,589,758 (GRCm39) |
F62S |
probably damaging |
Het |
| Or6c212 |
T |
A |
10: 129,558,814 (GRCm39) |
I200L |
probably benign |
Het |
| Pax8 |
A |
G |
2: 24,331,162 (GRCm39) |
S178P |
probably damaging |
Het |
| Peak1 |
A |
G |
9: 56,165,811 (GRCm39) |
F706L |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,544,568 (GRCm39) |
T1853A |
probably damaging |
Het |
| Reln |
A |
C |
5: 22,174,031 (GRCm39) |
F2024C |
probably damaging |
Het |
| Reln |
G |
T |
5: 22,124,067 (GRCm39) |
P2813Q |
probably damaging |
Het |
| Riox1 |
A |
G |
12: 83,998,568 (GRCm39) |
Q368R |
probably damaging |
Het |
| Rspry1 |
T |
C |
8: 95,376,483 (GRCm39) |
V335A |
probably benign |
Het |
| Scn3a |
T |
C |
2: 65,325,457 (GRCm39) |
N1020S |
possibly damaging |
Het |
| Scyl2 |
A |
G |
10: 89,476,497 (GRCm39) |
V876A |
probably benign |
Het |
| Sdhaf3 |
T |
A |
6: 6,956,141 (GRCm39) |
F39I |
probably damaging |
Het |
| Sfxn4 |
T |
C |
19: 60,839,452 (GRCm39) |
E202G |
possibly damaging |
Het |
| Slc1a4 |
A |
T |
11: 20,258,644 (GRCm39) |
|
probably benign |
Het |
| Sln |
A |
G |
9: 53,760,784 (GRCm39) |
I10V |
probably benign |
Het |
| Ssh2 |
A |
G |
11: 77,340,552 (GRCm39) |
E568G |
probably damaging |
Het |
| Supt7l |
G |
A |
5: 31,675,779 (GRCm39) |
P270S |
probably benign |
Het |
| Tanc2 |
A |
G |
11: 105,777,300 (GRCm39) |
|
probably benign |
Het |
| Tatdn1 |
A |
T |
15: 58,781,416 (GRCm39) |
|
probably benign |
Het |
| Vpreb1a |
T |
C |
16: 16,686,951 (GRCm39) |
M9V |
probably benign |
Het |
|
| Other mutations in Tfip11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02627:Tfip11
|
APN |
5 |
112,477,679 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0023:Tfip11
|
UTSW |
5 |
112,479,875 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0254:Tfip11
|
UTSW |
5 |
112,483,521 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0465:Tfip11
|
UTSW |
5 |
112,481,130 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0569:Tfip11
|
UTSW |
5 |
112,475,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1411:Tfip11
|
UTSW |
5 |
112,480,899 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1751:Tfip11
|
UTSW |
5 |
112,482,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1767:Tfip11
|
UTSW |
5 |
112,482,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1792:Tfip11
|
UTSW |
5 |
112,477,263 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2125:Tfip11
|
UTSW |
5 |
112,483,529 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4781:Tfip11
|
UTSW |
5 |
112,481,265 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4975:Tfip11
|
UTSW |
5 |
112,483,613 (GRCm39) |
unclassified |
probably benign |
|
|
R5348:Tfip11
|
UTSW |
5 |
112,483,534 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5385:Tfip11
|
UTSW |
5 |
112,479,086 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5469:Tfip11
|
UTSW |
5 |
112,482,191 (GRCm39) |
nonsense |
probably null |
|
|
R6540:Tfip11
|
UTSW |
5 |
112,482,263 (GRCm39) |
splice site |
probably null |
|
|
R6810:Tfip11
|
UTSW |
5 |
112,481,463 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7199:Tfip11
|
UTSW |
5 |
112,479,044 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7342:Tfip11
|
UTSW |
5 |
112,475,838 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R7352:Tfip11
|
UTSW |
5 |
112,481,134 (GRCm39) |
missense |
probably benign |
|
|
R7921:Tfip11
|
UTSW |
5 |
112,483,442 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8070:Tfip11
|
UTSW |
5 |
112,482,796 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8987:Tfip11
|
UTSW |
5 |
112,484,921 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9038:Tfip11
|
UTSW |
5 |
112,481,214 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9567:Tfip11
|
UTSW |
5 |
112,479,029 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-06-21 |
Incidental Mutation