Incidental Mutation 'R0023:Tfip11'
| ID |
15194 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tfip11
|
| Ensembl Gene |
ENSMUSG00000029345 |
| Gene Name |
tuftelin interacting protein 11 |
| Synonyms |
Tip39 |
| MMRRC Submission |
038318-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
R0023 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
112474235-112485939 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 112479875 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 265
(S265P)
|
| 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: S265P
PolyPhen 2
Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000031288
Gene: ENSMUSG00000029345
AA Change: S265P
| 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 |
noncoding transcript
Transcript: ENSMUST00000126736
|
| 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 |
|
| Meta Mutation Damage Score |
0.1020 |
| Coding Region Coverage |
- 1x: 78.2%
- 3x: 67.5%
- 10x: 40.9%
- 20x: 21.9%
|
| Validation Efficiency |
89% (77/87) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm1 |
A |
C |
4: 144,255,567 (GRCm39) |
D329A |
probably damaging |
Het |
| Abcc12 |
T |
A |
8: 87,264,962 (GRCm39) |
H661L |
probably damaging |
Het |
| Acsbg2 |
C |
G |
17: 57,154,710 (GRCm39) |
A481P |
probably damaging |
Het |
| Aknad1 |
T |
A |
3: 108,688,501 (GRCm39) |
C610S |
probably benign |
Het |
| Anapc1 |
T |
A |
2: 128,520,138 (GRCm39) |
K226N |
probably damaging |
Het |
| Aqp11 |
A |
T |
7: 97,375,896 (GRCm39) |
I251N |
possibly damaging |
Het |
| Arid1a |
G |
T |
4: 133,418,487 (GRCm39) |
T1032K |
unknown |
Het |
| Atg16l1 |
T |
C |
1: 87,717,187 (GRCm39) |
V538A |
probably benign |
Het |
| Atp7b |
A |
T |
8: 22,501,089 (GRCm39) |
L938Q |
probably damaging |
Het |
| Bbs1 |
C |
T |
19: 4,956,042 (GRCm39) |
A44T |
probably damaging |
Het |
| Btbd9 |
A |
T |
17: 30,749,188 (GRCm39) |
V42E |
probably damaging |
Het |
| Carmil3 |
C |
G |
14: 55,730,333 (GRCm39) |
S15R |
probably damaging |
Het |
| Cfap44 |
T |
A |
16: 44,241,583 (GRCm39) |
F651L |
probably benign |
Het |
| Clcn3 |
A |
T |
8: 61,386,104 (GRCm39) |
|
probably benign |
Het |
| Copb1 |
A |
T |
7: 113,849,329 (GRCm39) |
D91E |
probably benign |
Het |
| Ctr9 |
G |
A |
7: 110,643,154 (GRCm39) |
A509T |
possibly damaging |
Het |
| Dst |
C |
T |
1: 34,228,200 (GRCm39) |
P1606L |
probably damaging |
Het |
| Emc1 |
A |
G |
4: 139,098,320 (GRCm39) |
D767G |
probably damaging |
Het |
| Fads1 |
G |
A |
19: 10,164,261 (GRCm39) |
|
probably benign |
Het |
| Fcgbpl1 |
A |
G |
7: 27,852,837 (GRCm39) |
K1375E |
probably benign |
Het |
| Frrs1 |
T |
C |
3: 116,690,437 (GRCm39) |
F27L |
probably damaging |
Het |
| Itga2 |
G |
A |
13: 115,007,032 (GRCm39) |
S432L |
possibly damaging |
Het |
| Lrig3 |
A |
C |
10: 125,846,088 (GRCm39) |
D839A |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,382,107 (GRCm39) |
|
probably benign |
Het |
| Myo6 |
T |
C |
9: 80,190,816 (GRCm39) |
V789A |
possibly damaging |
Het |
| Nasp |
A |
G |
4: 116,462,968 (GRCm39) |
|
probably benign |
Het |
| Nsmaf |
A |
G |
4: 6,408,680 (GRCm39) |
Y700H |
probably damaging |
Het |
| Plekhs1 |
T |
G |
19: 56,466,948 (GRCm39) |
S260A |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| R3hdm1 |
T |
C |
1: 128,138,929 (GRCm39) |
|
probably benign |
Het |
| Rtcb |
A |
T |
10: 85,785,315 (GRCm39) |
|
probably benign |
Het |
| Suco |
A |
T |
1: 161,673,154 (GRCm39) |
|
probably null |
Het |
| Synrg |
G |
T |
11: 83,899,479 (GRCm39) |
D562Y |
probably damaging |
Het |
| Ucp3 |
G |
T |
7: 100,134,250 (GRCm39) |
V288L |
probably benign |
Het |
| Xylt1 |
G |
T |
7: 117,233,928 (GRCm39) |
G485V |
probably damaging |
Het |
| Yars1 |
A |
G |
4: 129,090,981 (GRCm39) |
T130A |
probably benign |
Het |
| Zfp652 |
A |
T |
11: 95,644,295 (GRCm39) |
R205* |
probably null |
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 |
|
IGL02627:Tfip11
|
APN |
5 |
112,477,679 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
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 |
2012-12-12 |
Incidental Mutation