Incidental Mutation 'IGL02414:Ttc1'
| ID |
292377 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ttc1
|
| Ensembl Gene |
ENSMUSG00000041278 |
| Gene Name |
tetratricopeptide repeat domain 1 |
| Synonyms |
4833412C19Rik, TPR1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.945)
|
| Stock # |
IGL02414
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
43620833-43638835 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 43630664 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104901
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048578]
[ENSMUST00000109278]
|
| AlphaFold |
Q91Z38 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048578
|
| SMART Domains |
Protein: ENSMUSP00000040779
Gene: ENSMUSG00000041278
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
85 |
101 |
N/A |
INTRINSIC |
|
TPR
|
116 |
149 |
9.39e-1 |
SMART |
|
TPR
|
155 |
188 |
1.23e-4 |
SMART |
|
TPR
|
189 |
222 |
7.06e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109278
|
| SMART Domains |
Protein: ENSMUSP00000104901
Gene: ENSMUSG00000041278
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
85 |
101 |
N/A |
INTRINSIC |
|
TPR
|
116 |
149 |
9.39e-1 |
SMART |
|
TPR
|
155 |
188 |
1.23e-4 |
SMART |
|
TPR
|
189 |
222 |
7.06e-5 |
SMART |
|
| 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 that belongs to the tetratrico peptide repeat superfamily of proteins. The encoded protein plays a role in protein-protein interactions, and binds to the Galpha subunit of G protein-coupled receptors to activate the Ras signaling pathway. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ada |
C |
T |
2: 163,571,960 (GRCm39) |
D273N |
probably benign |
Het |
| Btbd9 |
A |
C |
17: 30,439,533 (GRCm39) |
C551W |
possibly damaging |
Het |
| Casp2 |
T |
A |
6: 42,257,380 (GRCm39) |
L443H |
probably damaging |
Het |
| Cdhr3 |
A |
G |
12: 33,092,503 (GRCm39) |
Y703H |
possibly damaging |
Het |
| Clta |
T |
C |
4: 44,030,274 (GRCm39) |
|
probably benign |
Het |
| Cstdc2 |
T |
G |
2: 148,692,598 (GRCm39) |
K68T |
possibly damaging |
Het |
| Dnah8 |
A |
G |
17: 30,919,387 (GRCm39) |
D1120G |
probably benign |
Het |
| Ece2 |
A |
G |
16: 20,459,456 (GRCm39) |
D597G |
probably damaging |
Het |
| Etfdh |
A |
G |
3: 79,511,403 (GRCm39) |
V526A |
probably damaging |
Het |
| Gm14496 |
T |
A |
2: 181,633,198 (GRCm39) |
D60E |
probably benign |
Het |
| Gpr85 |
A |
T |
6: 13,836,909 (GRCm39) |
|
probably benign |
Het |
| Hivep1 |
C |
A |
13: 42,308,385 (GRCm39) |
S208R |
probably damaging |
Het |
| Kif1b |
A |
G |
4: 149,283,771 (GRCm39) |
I1252T |
probably damaging |
Het |
| Knl1 |
T |
C |
2: 118,900,804 (GRCm39) |
V835A |
possibly damaging |
Het |
| Or2d4 |
A |
T |
7: 106,543,965 (GRCm39) |
M81K |
probably benign |
Het |
| Or5ac25 |
C |
T |
16: 59,182,077 (GRCm39) |
C168Y |
probably damaging |
Het |
| Ppwd1 |
T |
G |
13: 104,359,645 (GRCm39) |
I119L |
probably benign |
Het |
| Prex1 |
T |
C |
2: 166,451,748 (GRCm39) |
K410R |
probably damaging |
Het |
| Prm2 |
C |
T |
16: 10,609,754 (GRCm39) |
|
probably benign |
Het |
| Psip1 |
T |
C |
4: 83,386,874 (GRCm39) |
T166A |
probably benign |
Het |
| Rtel1 |
T |
C |
2: 180,977,765 (GRCm39) |
V98A |
probably benign |
Het |
| Sdsl |
G |
A |
5: 120,600,124 (GRCm39) |
T91I |
probably damaging |
Het |
| Tas2r136 |
A |
G |
6: 132,754,494 (GRCm39) |
M211T |
possibly damaging |
Het |
| Trim43c |
A |
T |
9: 88,723,885 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ttc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01017:Ttc1
|
APN |
11 |
43,621,320 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01449:Ttc1
|
APN |
11 |
43,629,630 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01980:Ttc1
|
APN |
11 |
43,621,291 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02541:Ttc1
|
APN |
11 |
43,629,648 (GRCm39) |
missense |
probably benign |
|
|
IGL03006:Ttc1
|
APN |
11 |
43,636,147 (GRCm39) |
missense |
probably benign |
|
|
IGL03253:Ttc1
|
APN |
11 |
43,629,650 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4434001:Ttc1
|
UTSW |
11 |
43,635,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0113:Ttc1
|
UTSW |
11 |
43,636,115 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0391:Ttc1
|
UTSW |
11 |
43,629,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1037:Ttc1
|
UTSW |
11 |
43,621,326 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4667:Ttc1
|
UTSW |
11 |
43,636,144 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7493:Ttc1
|
UTSW |
11 |
43,636,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7956:Ttc1
|
UTSW |
11 |
43,627,240 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8032:Ttc1
|
UTSW |
11 |
43,628,806 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9515:Ttc1
|
UTSW |
11 |
43,621,305 (GRCm39) |
missense |
|
|
|
| Posted On |
2015-04-16 |
Incidental Mutation