Incidental Mutation 'IGL01749:Ttc22'
ID |
153093 |
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 # |
IGL01749
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
106479646-106497393 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 106495800 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 385
(T385A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035773
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047922]
|
AlphaFold |
Q8C159 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047922
AA Change: T385A
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000035773 Gene: ENSMUSG00000034919 AA Change: T385A
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: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
T |
C |
11: 110,135,050 (GRCm39) |
E245G |
probably damaging |
Het |
Bach2 |
A |
G |
4: 32,580,261 (GRCm39) |
T829A |
probably damaging |
Het |
Car1 |
T |
A |
3: 14,832,519 (GRCm39) |
H205L |
probably benign |
Het |
Cmya5 |
T |
C |
13: 93,225,807 (GRCm39) |
T3094A |
probably benign |
Het |
Dctn2 |
G |
A |
10: 127,117,286 (GRCm39) |
R380H |
possibly damaging |
Het |
Flt3 |
T |
C |
5: 147,294,838 (GRCm39) |
K411R |
probably benign |
Het |
Gm5263 |
T |
G |
1: 146,296,302 (GRCm39) |
|
noncoding transcript |
Het |
Hook2 |
T |
C |
8: 85,719,865 (GRCm39) |
|
probably null |
Het |
Iqsec1 |
G |
A |
6: 90,657,486 (GRCm39) |
R571C |
probably benign |
Het |
Lig3 |
T |
G |
11: 82,680,693 (GRCm39) |
L421R |
probably damaging |
Het |
Mtcl2 |
G |
T |
2: 156,863,461 (GRCm39) |
|
probably benign |
Het |
Nipbl |
A |
G |
15: 8,391,305 (GRCm39) |
V223A |
probably benign |
Het |
Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
Or2y12 |
A |
T |
11: 49,426,944 (GRCm39) |
R311W |
probably damaging |
Het |
Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
Reln |
C |
A |
5: 22,549,244 (GRCm39) |
E55* |
probably null |
Het |
Tlr1 |
A |
T |
5: 65,083,290 (GRCm39) |
L429* |
probably null |
Het |
Vmn1r48 |
A |
G |
6: 90,012,934 (GRCm39) |
V297A |
possibly 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 |
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 |
IGL02982:Ttc22
|
APN |
4 |
106,495,783 (GRCm39) |
missense |
probably damaging |
0.97 |
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 |
2014-02-04 |