Incidental Mutation 'IGL02372:Tulp3'
| ID |
290967 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tulp3
|
| Ensembl Gene |
ENSMUSG00000001521 |
| Gene Name |
tubby-like protein 3 |
| Synonyms |
2310022L06Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02372
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
128298124-128332814 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 128304561 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 231
(M231K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001562
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001562]
|
| AlphaFold |
O88413 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001562
AA Change: M231K
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000001562
Gene: ENSMUSG00000001521
AA Change: M231K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tub_N
|
30 |
84 |
1.7e-23 |
PFAM |
|
Pfam:Tub_N
|
76 |
198 |
5.5e-16 |
PFAM |
|
Pfam:Tub
|
213 |
454 |
1e-87 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128708
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138313
|
| 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 member of the tubby gene family of bipartite transcription factors. Members of this family have been identified in plants, vertebrates, and invertebrates, and they share a conserved N-terminal transcription activation region and a conserved C-terminal DNA and phosphatidylinositol-phosphate binding region. The encoded protein binds to phosphoinositides in the plasma membrane via its C-terminal region and probably functions as a membrane-bound transcription regulator that translocates to the nucleus in response to phosphoinositide hydrolysis, for instance, induced by G-protein-coupled-receptor signaling. It plays an important role in neuronal development and function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2009]
PHENOTYPE: Homozygous mutant mice exhibit failed neural tube closure followed by neuroepithelial apoptosis and ultimately embryonic death around E14.5. Heterozygotes are largely phenotypically normal, however some exhibit neuroepithelial apoptosis and die as embryos. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(35) : Targeted, other(3) Gene trapped(31) Chemically induced(1) |
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alyref |
A |
G |
11: 120,485,701 (GRCm39) |
|
probably benign |
Het |
| Ankrd27 |
A |
G |
7: 35,332,461 (GRCm39) |
|
probably null |
Het |
| Arc |
A |
G |
15: 74,543,954 (GRCm39) |
S90P |
probably damaging |
Het |
| Atp6v1e1 |
T |
A |
6: 120,778,084 (GRCm39) |
K150N |
probably benign |
Het |
| Atrn |
T |
C |
2: 130,844,674 (GRCm39) |
|
probably benign |
Het |
| Ccnb1 |
A |
G |
13: 100,917,824 (GRCm39) |
Y259H |
probably damaging |
Het |
| Celsr1 |
A |
G |
15: 85,814,108 (GRCm39) |
V1938A |
probably benign |
Het |
| Ckmt2 |
A |
G |
13: 92,013,343 (GRCm39) |
V37A |
probably benign |
Het |
| Dpys |
G |
T |
15: 39,656,667 (GRCm39) |
P467T |
probably benign |
Het |
| Ehbp1l1 |
T |
C |
19: 5,760,862 (GRCm39) |
T1535A |
possibly damaging |
Het |
| Eif4enif1 |
T |
C |
11: 3,179,986 (GRCm39) |
L302P |
probably benign |
Het |
| Faf1 |
T |
G |
4: 109,792,779 (GRCm39) |
F584V |
probably benign |
Het |
| Glb1l2 |
G |
A |
9: 26,707,772 (GRCm39) |
R72C |
probably damaging |
Het |
| Gm9892 |
T |
C |
8: 52,649,871 (GRCm39) |
|
noncoding transcript |
Het |
| Hecw1 |
G |
T |
13: 14,438,706 (GRCm39) |
D892E |
probably damaging |
Het |
| Hr |
A |
G |
14: 70,795,790 (GRCm39) |
E474G |
possibly damaging |
Het |
| Ltbp1 |
T |
G |
17: 75,559,401 (GRCm39) |
F297V |
probably damaging |
Het |
| Myc |
A |
G |
15: 61,859,707 (GRCm39) |
N127D |
probably damaging |
Het |
| Nbn |
T |
A |
4: 15,986,613 (GRCm39) |
N671K |
probably benign |
Het |
| Nup210l |
C |
A |
3: 90,109,278 (GRCm39) |
T1607N |
possibly damaging |
Het |
| Or8s8 |
A |
T |
15: 98,354,709 (GRCm39) |
T173S |
probably damaging |
Het |
| Osbpl1a |
T |
A |
18: 12,974,370 (GRCm39) |
K22* |
probably null |
Het |
| Phf20l1 |
T |
C |
15: 66,513,650 (GRCm39) |
L942P |
probably damaging |
Het |
| Plekhg5 |
C |
T |
4: 152,186,537 (GRCm39) |
R40W |
probably damaging |
Het |
| Pomt2 |
C |
T |
12: 87,169,609 (GRCm39) |
|
probably benign |
Het |
| Rab3gap1 |
A |
G |
1: 127,847,298 (GRCm39) |
|
probably benign |
Het |
| Sbk1 |
T |
C |
7: 125,890,230 (GRCm39) |
L81P |
probably damaging |
Het |
| Scrib |
G |
A |
15: 75,920,104 (GRCm39) |
P1524S |
probably damaging |
Het |
| Smpdl3a |
T |
A |
10: 57,683,611 (GRCm39) |
N240K |
probably benign |
Het |
| Smyd4 |
A |
T |
11: 75,281,111 (GRCm39) |
K195* |
probably null |
Het |
| Spmap1 |
A |
T |
11: 97,666,525 (GRCm39) |
Y54N |
probably damaging |
Het |
| Zfp87 |
A |
G |
13: 67,668,739 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tulp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01025:Tulp3
|
APN |
6 |
128,302,847 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01327:Tulp3
|
APN |
6 |
128,304,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01382:Tulp3
|
APN |
6 |
128,302,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01633:Tulp3
|
APN |
6 |
128,302,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02228:Tulp3
|
APN |
6 |
128,311,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
D4043:Tulp3
|
UTSW |
6 |
128,301,113 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0243:Tulp3
|
UTSW |
6 |
128,302,921 (GRCm39) |
nonsense |
probably null |
|
|
R1181:Tulp3
|
UTSW |
6 |
128,302,915 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1673:Tulp3
|
UTSW |
6 |
128,310,906 (GRCm39) |
splice site |
probably null |
|
|
R1749:Tulp3
|
UTSW |
6 |
128,314,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1984:Tulp3
|
UTSW |
6 |
128,303,769 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1985:Tulp3
|
UTSW |
6 |
128,303,769 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2568:Tulp3
|
UTSW |
6 |
128,304,601 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4660:Tulp3
|
UTSW |
6 |
128,300,017 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4779:Tulp3
|
UTSW |
6 |
128,300,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5001:Tulp3
|
UTSW |
6 |
128,302,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6192:Tulp3
|
UTSW |
6 |
128,332,703 (GRCm39) |
splice site |
probably null |
|
|
R6242:Tulp3
|
UTSW |
6 |
128,300,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7464:Tulp3
|
UTSW |
6 |
128,303,792 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7782:Tulp3
|
UTSW |
6 |
128,301,943 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7883:Tulp3
|
UTSW |
6 |
128,303,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8027:Tulp3
|
UTSW |
6 |
128,311,436 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8235:Tulp3
|
UTSW |
6 |
128,304,640 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8919:Tulp3
|
UTSW |
6 |
128,310,966 (GRCm39) |
missense |
probably benign |
0.12 |
|
| Posted On |
2015-04-16 |
Incidental Mutation