Incidental Mutation 'IGL03333:Ttc4'
| ID |
416925 |
| 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 # |
IGL03333
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
106519453-106536141 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106533828 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 120
(Y120H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116620
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026480]
[ENSMUST00000106770]
[ENSMUST00000106772]
[ENSMUST00000135676]
|
| AlphaFold |
Q8R3H9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026480
AA Change: Y120H
PolyPhen 2
Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000026480
Gene: ENSMUSG00000025413
AA Change: Y120H
| 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 benign
Transcript: ENSMUST00000106772
AA Change: Y120H
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000102384
Gene: ENSMUSG00000025413
AA Change: Y120H
| 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 benign
Transcript: ENSMUST00000135676
AA Change: Y120H
PolyPhen 2
Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000116620
Gene: ENSMUSG00000025413
AA Change: Y120H
| 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: ENSMUST00000135000
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145374
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap39 |
T |
C |
15: 76,610,932 (GRCm39) |
M893V |
probably benign |
Het |
| Ccdc185 |
C |
A |
1: 182,576,398 (GRCm39) |
G97V |
probably damaging |
Het |
| Cep170 |
T |
C |
1: 176,597,092 (GRCm39) |
T422A |
possibly damaging |
Het |
| Ckap2l |
A |
C |
2: 129,138,228 (GRCm39) |
|
probably null |
Het |
| Cpa3 |
A |
G |
3: 20,269,992 (GRCm39) |
Y411H |
possibly damaging |
Het |
| Dnah2 |
C |
A |
11: 69,385,949 (GRCm39) |
R1011L |
probably damaging |
Het |
| Efnb2 |
T |
A |
8: 8,689,275 (GRCm39) |
K30* |
probably null |
Het |
| Ep400 |
C |
T |
5: 110,851,432 (GRCm39) |
R1350H |
unknown |
Het |
| Epha6 |
T |
C |
16: 59,503,051 (GRCm39) |
D952G |
probably damaging |
Het |
| Exoc7 |
C |
A |
11: 116,191,987 (GRCm39) |
V195L |
probably benign |
Het |
| Fbxw8 |
T |
C |
5: 118,233,660 (GRCm39) |
M324V |
possibly damaging |
Het |
| Fchsd2 |
T |
C |
7: 100,847,703 (GRCm39) |
S198P |
probably damaging |
Het |
| Gcdh |
T |
C |
8: 85,617,700 (GRCm39) |
T202A |
probably benign |
Het |
| Gm6619 |
G |
A |
6: 131,467,471 (GRCm39) |
|
probably benign |
Het |
| Itpr1 |
A |
T |
6: 108,357,871 (GRCm39) |
|
probably benign |
Het |
| Kif2c |
A |
C |
4: 117,037,833 (GRCm39) |
V31G |
possibly damaging |
Het |
| Kpna7 |
T |
C |
5: 144,942,765 (GRCm39) |
I74V |
possibly damaging |
Het |
| Lvrn |
G |
A |
18: 46,997,731 (GRCm39) |
|
probably benign |
Het |
| Man2b2 |
T |
A |
5: 36,973,483 (GRCm39) |
I499F |
probably damaging |
Het |
| Mmd2 |
G |
T |
5: 142,553,693 (GRCm39) |
|
probably benign |
Het |
| Or11h7 |
C |
T |
14: 50,890,855 (GRCm39) |
Q54* |
probably null |
Het |
| Or2r11 |
T |
C |
6: 42,437,773 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or6b1 |
T |
A |
6: 42,815,637 (GRCm39) |
I274N |
possibly damaging |
Het |
| Or8g2b |
T |
A |
9: 39,751,308 (GRCm39) |
Y193N |
probably damaging |
Het |
| Parp14 |
A |
G |
16: 35,661,800 (GRCm39) |
S1412P |
probably benign |
Het |
| Prr30 |
A |
T |
14: 101,435,827 (GRCm39) |
V245E |
possibly damaging |
Het |
| Ros1 |
T |
A |
10: 52,031,267 (GRCm39) |
D458V |
probably damaging |
Het |
| Sec22c |
A |
G |
9: 121,517,284 (GRCm39) |
L138P |
probably damaging |
Het |
| Sema6d |
C |
A |
2: 124,506,290 (GRCm39) |
H699Q |
possibly damaging |
Het |
| Spata17 |
A |
T |
1: 186,872,667 (GRCm39) |
M1K |
probably null |
Het |
| Tpr |
T |
A |
1: 150,302,718 (GRCm39) |
D1331E |
probably benign |
Het |
| Tubgcp4 |
A |
G |
2: 121,026,654 (GRCm39) |
|
probably null |
Het |
| Usp19 |
T |
A |
9: 108,371,348 (GRCm39) |
M285K |
probably benign |
Het |
| Vmn1r222 |
A |
T |
13: 23,417,177 (GRCm39) |
F12Y |
probably benign |
Het |
| Vmn2r72 |
T |
C |
7: 85,400,075 (GRCm39) |
K325E |
probably benign |
Het |
| Vps33b |
T |
C |
7: 79,923,973 (GRCm39) |
|
probably benign |
Het |
| Zfp784 |
C |
T |
7: 5,039,351 (GRCm39) |
|
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 |
|
|
IGL02221:Ttc4
|
APN |
4 |
106,533,793 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
2016-08-02 |
Incidental Mutation