Incidental Mutation 'IGL03385:Ttc4'
| ID |
420852 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ttc4
|
| Ensembl Gene |
ENSMUSG00000025413 |
| Gene Name |
tetratricopeptide repeat domain 4 |
| Synonyms |
L62, 2810002P21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
IGL03385
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
106519453-106536141 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106525397 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 246
(S246P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026480
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026480]
[ENSMUST00000106772]
[ENSMUST00000135676]
|
| AlphaFold |
Q8R3H9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026480
AA Change: S246P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000026480
Gene: ENSMUSG00000025413
AA Change: S246P
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
79 |
112 |
1.26e1 |
SMART |
|
TPR
|
117 |
150 |
7.27e0 |
SMART |
|
TPR
|
151 |
184 |
3.07e1 |
SMART |
|
low complexity region
|
235 |
246 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106772
|
| SMART Domains |
Protein: ENSMUSP00000102384
Gene: ENSMUSG00000025413
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
79 |
112 |
1.26e1 |
SMART |
|
TPR
|
117 |
150 |
7.27e0 |
SMART |
|
TPR
|
151 |
184 |
3.07e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127133
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127571
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132650
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135676
|
| SMART Domains |
Protein: ENSMUSP00000116620
Gene: ENSMUSG00000025413
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPR_11
|
77 |
148 |
1.1e-14 |
PFAM |
|
Pfam:TPR_1
|
79 |
109 |
8.2e-5 |
PFAM |
|
Pfam:TPR_2
|
79 |
110 |
1.2e-3 |
PFAM |
|
Blast:TPR
|
173 |
203 |
1e-12 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139687
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142342
|
| 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 contains tetratricopeptide (TPR) repeats, which often mediate protein-protein interactions and chaperone activity. The encoded protein interacts with heat shock proteins 70 and 90. Alternative splicing results in multiple transcript variants. Naturally-occuring readthrough transcription occurs from upstream gene MROH (maestro heat-like repeat family member 7) to this gene. [provided by RefSeq, Apr 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bbs9 |
A |
G |
9: 22,555,044 (GRCm39) |
T444A |
probably benign |
Het |
| Cdh20 |
A |
G |
1: 109,993,516 (GRCm39) |
T324A |
possibly damaging |
Het |
| Col14a1 |
C |
A |
15: 55,273,600 (GRCm39) |
T723K |
unknown |
Het |
| Col14a1 |
G |
A |
15: 55,335,104 (GRCm39) |
G1513S |
unknown |
Het |
| Col1a2 |
C |
A |
6: 4,539,612 (GRCm39) |
N1293K |
unknown |
Het |
| Ctdp1 |
T |
C |
18: 80,493,133 (GRCm39) |
D454G |
probably damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| G3bp2 |
A |
G |
5: 92,216,254 (GRCm39) |
V94A |
probably damaging |
Het |
| Gm973 |
A |
G |
1: 59,621,629 (GRCm39) |
S590G |
probably benign |
Het |
| Gon4l |
A |
T |
3: 88,814,850 (GRCm39) |
T1940S |
probably benign |
Het |
| Itk |
G |
A |
11: 46,222,688 (GRCm39) |
Q594* |
probably null |
Het |
| Kcnc2 |
G |
A |
10: 112,291,691 (GRCm39) |
C293Y |
probably damaging |
Het |
| Krit1 |
A |
G |
5: 3,857,452 (GRCm39) |
I86V |
possibly damaging |
Het |
| Lyst |
T |
A |
13: 13,831,565 (GRCm39) |
L1663* |
probably null |
Het |
| Moxd2 |
T |
C |
6: 40,855,952 (GRCm39) |
T546A |
probably damaging |
Het |
| Myo7b |
G |
T |
18: 32,122,630 (GRCm39) |
Q717K |
probably benign |
Het |
| Or2a51 |
T |
C |
6: 43,178,914 (GRCm39) |
V112A |
probably benign |
Het |
| Or2ad1 |
A |
G |
13: 21,326,657 (GRCm39) |
V190A |
probably benign |
Het |
| Ostm1 |
A |
C |
10: 42,574,140 (GRCm39) |
N123H |
probably damaging |
Het |
| Pcdh10 |
A |
C |
3: 45,335,947 (GRCm39) |
S754R |
possibly damaging |
Het |
| Pomt2 |
A |
T |
12: 87,163,330 (GRCm39) |
L613Q |
probably damaging |
Het |
| Samd9l |
T |
A |
6: 3,376,208 (GRCm39) |
N351I |
probably damaging |
Het |
| Serpinb9 |
T |
C |
13: 33,191,979 (GRCm39) |
|
probably benign |
Het |
| Slc12a4 |
T |
A |
8: 106,677,496 (GRCm39) |
|
probably benign |
Het |
| Smgc |
T |
A |
15: 91,726,181 (GRCm39) |
H42Q |
possibly damaging |
Het |
| Tor1a |
A |
G |
2: 30,853,739 (GRCm39) |
V197A |
possibly damaging |
Het |
| Tti1 |
G |
A |
2: 157,834,945 (GRCm39) |
A1005V |
possibly damaging |
Het |
| Ugt3a1 |
A |
T |
15: 9,338,824 (GRCm39) |
I63F |
probably damaging |
Het |
|
| Other mutations in Ttc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01075:Ttc4
|
APN |
4 |
106,528,845 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01109:Ttc4
|
APN |
4 |
106,520,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01825:Ttc4
|
APN |
4 |
106,528,816 (GRCm39) |
splice site |
probably null |
|
|
IGL02221:Ttc4
|
APN |
4 |
106,533,793 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03333:Ttc4
|
APN |
4 |
106,533,828 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0398:Ttc4
|
UTSW |
4 |
106,524,770 (GRCm39) |
splice site |
probably null |
|
|
R1300:Ttc4
|
UTSW |
4 |
106,524,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4250:Ttc4
|
UTSW |
4 |
106,522,880 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5047:Ttc4
|
UTSW |
4 |
106,525,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5911:Ttc4
|
UTSW |
4 |
106,525,240 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7313:Ttc4
|
UTSW |
4 |
106,536,017 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R7874:Ttc4
|
UTSW |
4 |
106,522,881 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8341:Ttc4
|
UTSW |
4 |
106,522,893 (GRCm39) |
missense |
probably benign |
|
|
R9311:Ttc4
|
UTSW |
4 |
106,535,963 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9689:Ttc4
|
UTSW |
4 |
106,528,919 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Ttc4
|
UTSW |
4 |
106,525,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation