Incidental Mutation 'IGL02982:Ttc22'
ID |
406601 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ttc22
|
Ensembl Gene |
ENSMUSG00000034919 |
Gene Name |
tetratricopeptide repeat domain 22 |
Synonyms |
4732467L16Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.061)
|
Stock # |
IGL02982
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
106479646-106497393 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 106495783 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 379
(V379A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035773
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047922]
|
AlphaFold |
Q8C159 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047922
AA Change: V379A
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000035773 Gene: ENSMUSG00000034919 AA Change: V379A
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
19 |
N/A |
INTRINSIC |
low complexity region
|
46 |
59 |
N/A |
INTRINSIC |
TPR
|
66 |
99 |
2.3e1 |
SMART |
Pfam:TPR_8
|
100 |
128 |
2.5e-3 |
PFAM |
TPR
|
295 |
328 |
2.99e1 |
SMART |
TPR
|
432 |
465 |
6.19e-1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136505
|
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 with seven tetratricopeptide (TPR) repeats. Tetratricopeptide repeat containing motifs are found in a variety of proteins and may mediate protein-protein interactions and chaperone activity. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam5 |
G |
T |
8: 25,294,447 (GRCm39) |
A384D |
probably benign |
Het |
Adamts19 |
T |
A |
18: 59,157,590 (GRCm39) |
C961S |
probably damaging |
Het |
Agbl2 |
G |
A |
2: 90,636,159 (GRCm39) |
C565Y |
probably damaging |
Het |
Aox3 |
G |
A |
1: 58,166,846 (GRCm39) |
E190K |
probably benign |
Het |
Arf2 |
T |
G |
11: 103,872,602 (GRCm39) |
D74E |
probably damaging |
Het |
Bptf |
T |
G |
11: 106,967,500 (GRCm39) |
D960A |
probably damaging |
Het |
Ccdc180 |
G |
T |
4: 45,903,840 (GRCm39) |
|
probably benign |
Het |
Ces1a |
A |
G |
8: 93,771,603 (GRCm39) |
F65L |
probably damaging |
Het |
Def8 |
T |
C |
8: 124,183,278 (GRCm39) |
|
probably benign |
Het |
Fat4 |
T |
C |
3: 38,944,992 (GRCm39) |
L1295P |
probably damaging |
Het |
Filip1l |
A |
G |
16: 57,392,595 (GRCm39) |
H1061R |
probably damaging |
Het |
Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
Gldc |
A |
G |
19: 30,122,545 (GRCm39) |
|
probably null |
Het |
Golgb1 |
A |
C |
16: 36,746,172 (GRCm39) |
D2917A |
probably damaging |
Het |
Gpc5 |
G |
A |
14: 115,607,400 (GRCm39) |
C334Y |
probably damaging |
Het |
Gpsm1 |
T |
A |
2: 26,214,871 (GRCm39) |
L252Q |
probably damaging |
Het |
Iars1 |
C |
T |
13: 49,863,185 (GRCm39) |
R546C |
probably benign |
Het |
Kbtbd8 |
G |
T |
6: 95,103,547 (GRCm39) |
V399L |
probably benign |
Het |
Kcnd2 |
A |
T |
6: 21,217,148 (GRCm39) |
D284V |
probably damaging |
Het |
Kcnj6 |
T |
C |
16: 94,633,376 (GRCm39) |
K227R |
possibly damaging |
Het |
Lhx9 |
A |
T |
1: 138,766,349 (GRCm39) |
H155Q |
probably damaging |
Het |
Mcm9 |
A |
G |
10: 53,501,922 (GRCm39) |
V221A |
probably damaging |
Het |
Myo9a |
A |
T |
9: 59,815,491 (GRCm39) |
K2237* |
probably null |
Het |
Ntf3 |
A |
T |
6: 126,079,340 (GRCm39) |
D55E |
probably damaging |
Het |
Or13a28 |
A |
T |
7: 140,217,865 (GRCm39) |
I84F |
probably benign |
Het |
Or4c15b |
G |
T |
2: 89,113,453 (GRCm39) |
T29K |
probably damaging |
Het |
Plek |
T |
A |
11: 16,931,826 (GRCm39) |
I342F |
probably damaging |
Het |
Polrmt |
A |
G |
10: 79,574,182 (GRCm39) |
Y853H |
probably damaging |
Het |
Psg29 |
A |
G |
7: 16,945,632 (GRCm39) |
T401A |
probably damaging |
Het |
Ptprb |
A |
G |
10: 116,158,533 (GRCm39) |
T822A |
probably benign |
Het |
Ptprq |
A |
C |
10: 107,422,545 (GRCm39) |
F1616V |
probably damaging |
Het |
Rpe65 |
T |
A |
3: 159,305,998 (GRCm39) |
V19E |
probably damaging |
Het |
Scamp2 |
G |
A |
9: 57,488,832 (GRCm39) |
A178T |
probably benign |
Het |
Spata31e5 |
T |
C |
1: 28,817,135 (GRCm39) |
H299R |
probably damaging |
Het |
Spta1 |
A |
G |
1: 174,014,854 (GRCm39) |
I445V |
probably benign |
Het |
Tas2r135 |
A |
G |
6: 42,383,187 (GRCm39) |
E242G |
probably benign |
Het |
Unc5d |
C |
T |
8: 29,142,881 (GRCm39) |
G857E |
probably damaging |
Het |
Usp28 |
A |
G |
9: 48,929,739 (GRCm39) |
I43V |
probably benign |
Het |
Vmn2r68 |
A |
T |
7: 84,883,649 (GRCm39) |
M152K |
probably benign |
Het |
Wrn |
C |
T |
8: 33,833,094 (GRCm39) |
G133R |
probably damaging |
Het |
Zfyve26 |
G |
A |
12: 79,310,644 (GRCm39) |
T187M |
probably damaging |
Het |
Zic2 |
A |
G |
14: 122,715,979 (GRCm39) |
E367G |
probably damaging |
Het |
|
Other mutations in Ttc22 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01718:Ttc22
|
APN |
4 |
106,495,773 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01749:Ttc22
|
APN |
4 |
106,495,800 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02189:Ttc22
|
APN |
4 |
106,496,354 (GRCm39) |
missense |
probably benign |
0.21 |
IGL02206:Ttc22
|
APN |
4 |
106,493,186 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02219:Ttc22
|
APN |
4 |
106,495,687 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02348:Ttc22
|
APN |
4 |
106,480,135 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02754:Ttc22
|
APN |
4 |
106,495,669 (GRCm39) |
missense |
probably benign |
0.22 |
R0044:Ttc22
|
UTSW |
4 |
106,494,003 (GRCm39) |
missense |
probably benign |
|
R0607:Ttc22
|
UTSW |
4 |
106,496,510 (GRCm39) |
missense |
possibly damaging |
0.72 |
R0611:Ttc22
|
UTSW |
4 |
106,491,381 (GRCm39) |
missense |
probably damaging |
1.00 |
R1148:Ttc22
|
UTSW |
4 |
106,480,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R1148:Ttc22
|
UTSW |
4 |
106,480,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R1466:Ttc22
|
UTSW |
4 |
106,479,977 (GRCm39) |
missense |
probably damaging |
1.00 |
R1466:Ttc22
|
UTSW |
4 |
106,479,977 (GRCm39) |
missense |
probably damaging |
1.00 |
R1584:Ttc22
|
UTSW |
4 |
106,479,977 (GRCm39) |
missense |
probably damaging |
1.00 |
R1654:Ttc22
|
UTSW |
4 |
106,491,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R1776:Ttc22
|
UTSW |
4 |
106,496,237 (GRCm39) |
missense |
possibly damaging |
0.64 |
R1864:Ttc22
|
UTSW |
4 |
106,494,003 (GRCm39) |
missense |
probably benign |
|
R1886:Ttc22
|
UTSW |
4 |
106,494,063 (GRCm39) |
critical splice donor site |
probably null |
|
R2136:Ttc22
|
UTSW |
4 |
106,479,869 (GRCm39) |
missense |
possibly damaging |
0.49 |
R2156:Ttc22
|
UTSW |
4 |
106,496,237 (GRCm39) |
missense |
probably benign |
0.43 |
R2267:Ttc22
|
UTSW |
4 |
106,496,282 (GRCm39) |
missense |
possibly damaging |
0.60 |
R2698:Ttc22
|
UTSW |
4 |
106,496,435 (GRCm39) |
missense |
probably benign |
|
R3162:Ttc22
|
UTSW |
4 |
106,480,276 (GRCm39) |
missense |
probably damaging |
0.97 |
R3162:Ttc22
|
UTSW |
4 |
106,480,276 (GRCm39) |
missense |
probably damaging |
0.97 |
R3754:Ttc22
|
UTSW |
4 |
106,496,278 (GRCm39) |
missense |
probably damaging |
0.99 |
R5399:Ttc22
|
UTSW |
4 |
106,493,954 (GRCm39) |
missense |
probably damaging |
1.00 |
R5839:Ttc22
|
UTSW |
4 |
106,495,717 (GRCm39) |
missense |
probably damaging |
0.99 |
R6156:Ttc22
|
UTSW |
4 |
106,495,780 (GRCm39) |
missense |
probably benign |
0.00 |
R6678:Ttc22
|
UTSW |
4 |
106,480,242 (GRCm39) |
missense |
probably benign |
0.17 |
R6912:Ttc22
|
UTSW |
4 |
106,495,800 (GRCm39) |
missense |
probably benign |
0.04 |
R7094:Ttc22
|
UTSW |
4 |
106,493,104 (GRCm39) |
nonsense |
probably null |
|
R8166:Ttc22
|
UTSW |
4 |
106,491,673 (GRCm39) |
missense |
probably damaging |
0.99 |
R8253:Ttc22
|
UTSW |
4 |
106,495,717 (GRCm39) |
missense |
probably damaging |
0.99 |
R8334:Ttc22
|
UTSW |
4 |
106,496,115 (GRCm39) |
splice site |
probably null |
|
Z1177:Ttc22
|
UTSW |
4 |
106,479,720 (GRCm39) |
start gained |
probably benign |
|
|
Posted On |
2016-08-02 |