Incidental Mutation 'IGL02221:Ttc4'
| ID |
285163 |
| 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: 0.947)
|
| Stock # |
IGL02221
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
106519453-106536141 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 106533793 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116620
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026480]
[ENSMUST00000106770]
[ENSMUST00000106772]
[ENSMUST00000135676]
|
| AlphaFold |
Q8R3H9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000026480
|
| SMART Domains |
Protein: ENSMUSP00000026480
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 |
|
low complexity region
|
235 |
246 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106770
|
| SMART Domains |
Protein: ENSMUSP00000102382
Gene: ENSMUSG00000047502
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
318 |
332 |
N/A |
INTRINSIC |
|
low complexity region
|
563 |
573 |
N/A |
INTRINSIC |
|
SCOP:d1b3ua_
|
634 |
1218 |
6e-9 |
SMART |
|
| Predicted Effect |
probably null
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: ENSMUST00000132572
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134160
|
| Predicted Effect |
probably null
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: ENSMUST00000142342
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145374
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135000
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013D24Rik |
T |
C |
6: 124,333,907 (GRCm39) |
I24M |
probably benign |
Het |
| Ano5 |
G |
A |
7: 51,220,071 (GRCm39) |
D390N |
probably damaging |
Het |
| Atp2c2 |
A |
G |
8: 120,471,073 (GRCm39) |
Y407C |
probably damaging |
Het |
| B430306N03Rik |
T |
C |
17: 48,631,223 (GRCm39) |
|
probably benign |
Het |
| Cd44 |
A |
T |
2: 102,676,858 (GRCm39) |
M269K |
probably benign |
Het |
| Cdin1 |
T |
C |
2: 115,469,547 (GRCm39) |
|
probably null |
Het |
| Cpped1 |
G |
T |
16: 11,646,392 (GRCm39) |
P144Q |
probably damaging |
Het |
| Epas1 |
C |
T |
17: 87,135,275 (GRCm39) |
T636M |
possibly damaging |
Het |
| Hsd17b3 |
G |
T |
13: 64,236,865 (GRCm39) |
H26Q |
probably benign |
Het |
| Ighv8-9 |
A |
G |
12: 115,431,947 (GRCm39) |
|
probably benign |
Het |
| Itih1 |
A |
T |
14: 30,651,544 (GRCm39) |
C883S |
probably damaging |
Het |
| Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
| Lcn3 |
A |
T |
2: 25,656,172 (GRCm39) |
M76L |
probably benign |
Het |
| Lin9 |
A |
T |
1: 180,478,399 (GRCm39) |
M53L |
probably benign |
Het |
| Mast1 |
A |
G |
8: 85,645,384 (GRCm39) |
V687A |
possibly damaging |
Het |
| Mmd2 |
C |
T |
5: 142,555,212 (GRCm39) |
|
probably benign |
Het |
| Mroh2b |
T |
C |
15: 4,953,123 (GRCm39) |
L619S |
probably damaging |
Het |
| Ngef |
T |
C |
1: 87,468,418 (GRCm39) |
T114A |
probably benign |
Het |
| Nlrp12 |
T |
C |
7: 3,289,597 (GRCm39) |
D305G |
possibly damaging |
Het |
| Nlrp1a |
A |
T |
11: 71,013,944 (GRCm39) |
F435L |
possibly damaging |
Het |
| Nup188 |
A |
G |
2: 30,220,653 (GRCm39) |
I909V |
possibly damaging |
Het |
| Osbpl3 |
A |
C |
6: 50,304,347 (GRCm39) |
|
probably benign |
Het |
| P2ry2 |
G |
T |
7: 100,647,321 (GRCm39) |
P328H |
possibly damaging |
Het |
| Prex2 |
A |
T |
1: 11,131,569 (GRCm39) |
N46I |
probably benign |
Het |
| Prss42 |
T |
C |
9: 110,632,243 (GRCm39) |
F325L |
possibly damaging |
Het |
| Reep5 |
A |
G |
18: 34,482,850 (GRCm39) |
F120L |
probably damaging |
Het |
| Scg3 |
G |
T |
9: 75,590,939 (GRCm39) |
F23L |
probably damaging |
Het |
| Scx |
A |
G |
15: 76,343,295 (GRCm39) |
D200G |
probably benign |
Het |
| Setd5 |
C |
T |
6: 113,098,131 (GRCm39) |
|
probably benign |
Het |
| Tcf4 |
T |
A |
18: 69,480,438 (GRCm39) |
S23R |
probably damaging |
Het |
| Tyro3 |
T |
A |
2: 119,643,071 (GRCm39) |
C627S |
probably benign |
Het |
| Yipf2 |
T |
C |
9: 21,502,764 (GRCm39) |
N106S |
possibly damaging |
Het |
| Zfp619 |
T |
C |
7: 39,186,334 (GRCm39) |
L788P |
probably benign |
Het |
| Zfp831 |
G |
A |
2: 174,485,519 (GRCm39) |
V65I |
probably benign |
Het |
| Zgpat |
T |
C |
2: 181,020,651 (GRCm39) |
S275P |
probably benign |
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 |
|
|
IGL03333:Ttc4
|
APN |
4 |
106,533,828 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL03385:Ttc4
|
APN |
4 |
106,525,397 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2015-04-16 |
Incidental Mutation