Incidental Mutation 'IGL02627:Tfip11'
| ID |
301147 |
| 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: 0.968)
|
| Stock # |
IGL02627
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
112474235-112485939 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 112477679 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 145
(S145R)
|
| 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: S145R
PolyPhen 2
Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000031288
Gene: ENSMUSG00000029345
AA Change: S145R
| 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
AA Change: S5R
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000142844
Gene: ENSMUSG00000029345
AA Change: S5R
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
T |
A |
2: 30,685,777 (GRCm39) |
K353M |
probably damaging |
Het |
| Arhgap32 |
T |
C |
9: 32,157,302 (GRCm39) |
Y100H |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cfap418 |
G |
A |
4: 10,898,039 (GRCm39) |
C207Y |
probably damaging |
Het |
| Ckap5 |
A |
T |
2: 91,406,366 (GRCm39) |
N752I |
probably damaging |
Het |
| Dgkz |
T |
A |
2: 91,769,055 (GRCm39) |
|
probably benign |
Het |
| Egfr |
T |
A |
11: 16,819,346 (GRCm39) |
V292E |
probably damaging |
Het |
| Gnb3 |
T |
C |
6: 124,811,678 (GRCm39) |
T329A |
probably damaging |
Het |
| Igkv3-2 |
A |
T |
6: 70,675,810 (GRCm39) |
T40S |
probably damaging |
Het |
| Kcnq2 |
T |
C |
2: 180,724,120 (GRCm39) |
|
probably benign |
Het |
| Mbip |
T |
C |
12: 56,382,590 (GRCm39) |
Q292R |
probably benign |
Het |
| Mgat5b |
T |
C |
11: 116,874,442 (GRCm39) |
Y625H |
probably damaging |
Het |
| Ms4a4d |
A |
T |
19: 11,525,987 (GRCm39) |
E40D |
probably damaging |
Het |
| Naip1 |
T |
C |
13: 100,562,156 (GRCm39) |
E1003G |
possibly damaging |
Het |
| Ncf2 |
G |
A |
1: 152,686,759 (GRCm39) |
|
probably benign |
Het |
| Nfkbiz |
A |
G |
16: 55,636,714 (GRCm39) |
V529A |
probably damaging |
Het |
| Osr2 |
A |
G |
15: 35,300,600 (GRCm39) |
N52S |
possibly damaging |
Het |
| Prag1 |
A |
G |
8: 36,606,593 (GRCm39) |
D778G |
possibly damaging |
Het |
| Rsl1d1 |
G |
T |
16: 11,012,415 (GRCm39) |
A337E |
possibly damaging |
Het |
| Sall3 |
A |
T |
18: 81,015,576 (GRCm39) |
L784Q |
possibly damaging |
Het |
| Spen |
A |
G |
4: 141,200,326 (GRCm39) |
I2744T |
probably damaging |
Het |
| Tonsl |
T |
C |
15: 76,518,295 (GRCm39) |
D559G |
probably damaging |
Het |
| Trmt5 |
A |
T |
12: 73,328,229 (GRCm39) |
S325T |
probably damaging |
Het |
| Ubr1 |
A |
T |
2: 120,771,472 (GRCm39) |
V472D |
probably damaging |
Het |
| Vmn1r30 |
T |
A |
6: 58,412,746 (GRCm39) |
T29S |
probably benign |
Het |
| Vps29 |
T |
C |
5: 122,500,908 (GRCm39) |
S158P |
probably benign |
Het |
| Wdr82 |
T |
C |
9: 106,053,886 (GRCm39) |
V79A |
possibly damaging |
Het |
| Wfdc16 |
T |
A |
2: 164,480,383 (GRCm39) |
E37D |
possibly damaging |
Het |
|
| Other mutations in Tfip11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01141:Tfip11
|
APN |
5 |
112,477,369 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
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 |
2015-04-16 |
Incidental Mutation