Incidental Mutation 'R5469:Tfip11'
| ID |
433402 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tfip11
|
| Ensembl Gene |
ENSMUSG00000029345 |
| Gene Name |
tuftelin interacting protein 11 |
| Synonyms |
Tip39 |
| MMRRC Submission |
043030-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
R5469 (G1)
|
| Quality Score |
119 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
112474235-112485939 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 112482191 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 483
(W483*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031288
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031288]
[ENSMUST00000031289]
[ENSMUST00000146510]
[ENSMUST00000198238]
|
| AlphaFold |
Q9ERA6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031288
AA Change: W483*
|
| SMART Domains |
Protein: ENSMUSP00000031288
Gene: ENSMUSG00000029345
AA Change: W483*
| 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: ENSMUST00000031289
|
| SMART Domains |
Protein: ENSMUSP00000031289
Gene: ENSMUSG00000029346
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
54 |
N/A |
INTRINSIC |
|
Pfam:SRR1
|
109 |
164 |
2.1e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125628
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126736
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146510
|
| SMART Domains |
Protein: ENSMUSP00000119870
Gene: ENSMUSG00000029346
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
53 |
N/A |
INTRINSIC |
|
Pfam:SRR1
|
109 |
162 |
1.8e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155756
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156083
|
| 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 |
- 1x: 98.2%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.4%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Allc |
A |
T |
12: 28,605,305 (GRCm39) |
N331K |
probably benign |
Het |
| Anapc1 |
G |
T |
2: 128,517,621 (GRCm39) |
S341* |
probably null |
Het |
| Cacna1e |
T |
C |
1: 154,319,683 (GRCm39) |
E1339G |
probably damaging |
Het |
| Cacna2d1 |
T |
A |
5: 16,557,676 (GRCm39) |
I702N |
probably damaging |
Het |
| Casp2 |
C |
A |
6: 42,246,268 (GRCm39) |
H209N |
probably benign |
Het |
| Casr |
A |
G |
16: 36,330,392 (GRCm39) |
V314A |
probably benign |
Het |
| Ccne2 |
A |
T |
4: 11,201,353 (GRCm39) |
R294* |
probably null |
Het |
| Cd180 |
T |
A |
13: 102,841,342 (GRCm39) |
H129Q |
probably benign |
Het |
| Chst10 |
A |
T |
1: 38,904,608 (GRCm39) |
Y362N |
probably damaging |
Het |
| Ctnna1 |
T |
A |
18: 35,372,573 (GRCm39) |
D509E |
probably benign |
Het |
| Ctsh |
G |
T |
9: 89,942,564 (GRCm39) |
|
probably null |
Het |
| Dhx29 |
C |
T |
13: 113,081,073 (GRCm39) |
A369V |
possibly damaging |
Het |
| Enox1 |
A |
G |
14: 77,830,414 (GRCm39) |
T340A |
probably benign |
Het |
| Fam135b |
T |
A |
15: 71,317,892 (GRCm39) |
T1357S |
probably benign |
Het |
| Flt3 |
A |
T |
5: 147,291,893 (GRCm39) |
S544T |
possibly damaging |
Het |
| Gm12689 |
T |
C |
4: 99,184,402 (GRCm39) |
I85T |
unknown |
Het |
| Gsap |
A |
T |
5: 21,495,542 (GRCm39) |
Y831F |
possibly damaging |
Het |
| Hnrnpr |
C |
T |
4: 136,046,745 (GRCm39) |
T142M |
probably damaging |
Het |
| Jak3 |
A |
G |
8: 72,131,417 (GRCm39) |
D94G |
probably benign |
Het |
| Ktn1 |
A |
T |
14: 47,928,377 (GRCm39) |
E579D |
probably damaging |
Het |
| Lama2 |
G |
A |
10: 26,917,185 (GRCm39) |
P2247S |
possibly damaging |
Het |
| Lrba |
C |
T |
3: 86,449,948 (GRCm39) |
S2089F |
probably damaging |
Het |
| Map1b |
C |
T |
13: 99,565,846 (GRCm39) |
V2292M |
unknown |
Het |
| Mphosph10 |
A |
T |
7: 64,039,193 (GRCm39) |
|
probably null |
Het |
| Pappa |
C |
T |
4: 65,123,389 (GRCm39) |
T908M |
probably benign |
Het |
| Pdcd10 |
T |
A |
3: 75,428,364 (GRCm39) |
K150* |
probably null |
Het |
| Piezo2 |
A |
T |
18: 63,160,935 (GRCm39) |
I2275N |
probably damaging |
Het |
| Pmvk |
T |
C |
3: 89,374,989 (GRCm39) |
|
probably null |
Het |
| Pold2 |
G |
A |
11: 5,823,048 (GRCm39) |
P376S |
probably damaging |
Het |
| Prtg |
A |
T |
9: 72,799,247 (GRCm39) |
Q759L |
probably damaging |
Het |
| Rad51ap1 |
C |
T |
6: 126,905,190 (GRCm39) |
S107N |
probably damaging |
Het |
| Rfk |
T |
A |
19: 17,372,566 (GRCm39) |
N29K |
probably damaging |
Het |
| Ror2 |
T |
C |
13: 53,271,375 (GRCm39) |
M315V |
probably benign |
Het |
| Rrn3 |
A |
G |
16: 13,630,964 (GRCm39) |
E600G |
probably benign |
Het |
| Ryk |
A |
G |
9: 102,784,153 (GRCm39) |
Y593C |
possibly damaging |
Het |
| Slc30a3 |
T |
A |
5: 31,246,004 (GRCm39) |
D193V |
probably damaging |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Srbd1 |
C |
A |
17: 86,427,370 (GRCm39) |
C421F |
possibly damaging |
Het |
| Sstr5 |
A |
C |
17: 25,711,043 (GRCm39) |
V62G |
probably damaging |
Het |
| Tlk1 |
T |
C |
2: 70,552,012 (GRCm39) |
H553R |
probably benign |
Het |
| Tnc |
T |
C |
4: 63,932,162 (GRCm39) |
|
probably null |
Het |
| Trav12-1 |
A |
G |
14: 53,775,930 (GRCm39) |
T27A |
probably damaging |
Het |
| Usp9y |
G |
A |
Y: 1,364,714 (GRCm39) |
T1033I |
probably benign |
Het |
| V1ra8 |
C |
T |
6: 90,180,186 (GRCm39) |
H130Y |
probably benign |
Het |
| Vmn2r77 |
A |
T |
7: 86,451,271 (GRCm39) |
M386L |
probably benign |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAACTGTGAACTGAGGCTCC -3'
(R):5'- AATGCCATACCTCCTTCTGCAG -3'
Sequencing Primer
(F):5'- TGTCACTGTCAGCACGTG -3'
(R):5'- CTCCTTCTGCAGCTTAGGGAAG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation